Becky Steck Chrysta Lienczewski Deborah Hoshizaki Evren Azeloglu George Oliver John F. Bertram John O'Toole Jonathan Himmelfarb Laura Mariani Matthias Kretzler Michael Todd Valerius Ravi Iyengar Sean Mooney The KPMP Consortium Ulysses Balis Edison Ong Ghida Arnous Jennifer Schaub Lia Papageorge Ling Wan Yingtong Liu Yongqun "Oliver" He 2024-03-16 KTAO (Kidney Tissue Atlas Ontology) is a community-based biomedical ontology. Its development is supported by the NIH-NIDDK supported Kidney Precision Medicine Project (KPMP). OWL-DL KTAO: A biomedical ontology that represents kidney tissue atlas. KTAO: Kidney Tissue Atlas Ontology Vision Release: 1.0.121 BFO OWL specification label 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 BFO OWL specification label BFO CLIF 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 BFO CLIF specification label editor preferred label editor preferred label editor preferred term editor preferred term editor preferred term~editor preferred label The concise, meaningful, and human-friendly name for a class or property preferred by the ontology developers. (US-English) PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> editor preferred label editor preferred label editor preferred term editor preferred term editor preferred term~editor preferred label 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 example of usage has curation status PERSON:Alan Ruttenberg PERSON:Bill Bug PERSON:Melanie Courtot OBI_0000281 has curation status has curation status definition definition textual definition English language definitions of what NCI means by the concept. These are limited to 1024 characters. They may also include information about the definition's source and attribution in a form that can easily be interpreted by software. 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. 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. 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 editor note 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. PERSON:Daniel Schober GROUP:OBI:<http://purl.obfoundry.org/obo/obi> GROUP:OBI:<http://purl.obofoundry.org/obo/obi> IAO:0000116 uberon editor_note 1 true editor_note editor note editor note definition editor term editor 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 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. PERSON:Daniel Schober GROUP:OBI:<http://purl.obolibrary.org/obo/obi> definition editor definition editor term editor term editor 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 alternative term definition source 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 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 PERSON:Daniel Schober Discussion on obo-discuss mailing-list, see http://bit.ly/hgm99w Discussion on obo-discuss mailing-list, see http://bit.ly/hgm99w GROUP:OBI:<http://purl.obolibrary.org/obo/obi> definition source definition source has obsolescence reason Relates an annotation property to an obsolescence reason. The values of obsolescence reasons come from a list of predefined terms, instances of the class obsolescence reason specification. PERSON:Alan Ruttenberg PERSON:Melanie Courtot has obsolescence reason 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 curator_notes curator note curator note curator notes term tracker item term tracker item the URI for an OBI Terms ticket at sourceforge, such as https://sourceforge.net/p/obi/obi-terms/772/ the URI for an OBI Terms ticket at sourceforge, such as https://sourceforge.net/p/obi/obi-terms/772/ An IRI or similar locator for a request or discussion of an ontology term. An IRI or similar locator for a request or discussion of an ontology term. Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg IAO:0000233 external uberon term_tracker_item true true term_tracker_item The 'tracker item' can associate a tracker with a specific ontology term. The 'tracker item' can associate a tracker with a specific ontology term. term tracker item term tracker item ontology term requester The name of the person, project, or organization that motivated inclusion of an ontology term by requesting its addition. Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg The 'term requester' can credit the person, organization or project who request the ontology term. ontology term requester imported from For external terms/classes, the ontology from which the term was imported PERSON:Alan Ruttenberg PERSON:Melanie Courtot GROUP:OBI:<http://purl.obolibrary.org/obo/obi> imported from imported from expand expression to ObjectProperty: RO_0002104 Label: has plasma membrane part Annotations: IAO_0000424 "http://purl.obolibrary.org/obo/BFO_0000051 some (http://purl.org/obo/owl/GO#GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)" A macro expansion tag applied to an object property (or possibly a data property) which can be used by a macro-expansion engine to generate more complex expressions from simpler ones Chris Mungall expand expression to expand expression to expand assertion to OBO foundry unique label An alternative name for a class or property which is unique across the OBO Foundry. The intended usage of that property is as follow: OBO foundry unique labels are automatically generated based on regular expressions provided by each ontology, so that SO could specify unique label = 'sequence ' + [label], etc. , MA could specify 'mouse + [label]' etc. Upon importing terms, ontology developers can choose to use the 'OBO foundry unique label' for an imported term or not. The same applies to tools . PERSON:Alan Ruttenberg PERSON:Bjoern Peters PERSON:Chris Mungall PERSON:Melanie Courtot GROUP:OBO Foundry <http://obofoundry.org/> OBO foundry unique label 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 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(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) has associated axiom(fol) has ontology root term Ontology annotation property. Relates an ontology to a term that is a designated root term of the ontology. Display tools like OLS can use terms annotated with this property as the starting point for rendering the ontology class hierarchy. There can be more than one root. Nicolas Matentzoglu IAO:0000700 external uberon has_ontology_root_term true true has_ontology_root_term has ontology root term has ontology root term preferred_root term replaced by C3829466 NCIT_C106180 term_mapping_to_UMLS term_mapping_to_NCIT A property 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 the contributing source. A11 Conceptual Entity Has_NICHD_Parent Has_NICHD_Parent Has_NICHD_Parent true NHC0 code code code The semantic type describes 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 Provides an alternative Preferred Name for use in some NCI systems. P107 Conceptual Entity Display Name Display_Name Display Name Display_Name Display_Name 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 Concept Unique Identifiers, or CUIs, are concept numbers 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 Contains a Concept Unique Identifier for those concepts that appear in NCI Metathesaurus but not in the NLM UMLS. P208 Conceptual Entity NCI Metathesaurus CUI NCI_META_CUI NCI_META_CUI NCI_META_CUI An NCI Thesaurus 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 This 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 English language definitions of what a source other than NCI means by the concept. These are limited to 1024 characters. They include information about the definition's source in a form that can easily be interpreted by software. P325 Conceptual Entity [source] Definition ALT_DEFINITION ALT_DEFINITION ALT_DEFINITION true 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 P371 Conceptual Entity NICHD_Hierarchy_Term NICHD NICHD_Hierarchy_Term NICHD_Hierarchy_Term Design notes are 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 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 NIAID GSCID-BRC alternative term An alternative term used by the National Institute of Allergy and Infectious Diseases (NIAID) Genomic Sequencing Centers for Infectious Diseases (GSCID) and Bioinformatics Resource Centers (BRC). PERSON: Chris Stoeckert, Jie Zheng NIAID GSCID-BRC metadata working group NIAID GSCID-BRC alternative term IEDB alternative term An alternative term used by the IEDB. PERSON:Randi Vita, Jason Greenbaum, Bjoern Peters IEDB IEDB alternative term the symbol assigned by the nomenclature authority Oliver He, Yue Liu symbol from nomenclature authority the full name assigned by the nomenclature authority Oliver He, Yue Liu full name from nomenclature authority A GeneID in the NCBI Gene database Oliver He, Yue Liu NCBI GeneID the NCBI LocusTag name of a gene Oliver He, Yue Liu NCBI LocusTag the map location of a gene Oliver He, Yue Liu gene map location a date of content modification Oliver He, Yue Liu modification date The NCBITaxon ontology ID of an organism. Oliver He, Yue Liu organism NCBITaxon ID A chromosome ID where a gene is located. Oliver He chromosome ID of gene an annotation property that specifies the type of a gene Oliver He type of gene an annotation property that specifies a nomenclature status Oliver He nomenclature status an annotation property that shows the GO information associated with a specific gene. Yongqun He YH: use the convention: GO_ID (EC: xx; Qualifier: xx; PMID: xxxxx;) where GO_ID is a GO ID, EC is the Evidence Code, Qualifier is a specific association type, and PMID is a PubMed ID of a paper that supports the gene-GO association. has GO association An annotation property that represents a gene's association with PubMed publication(s). Yongqun He YH: use the format: PMID: pmid1, pmid2, ... where pmid1 and pmid2 are specfic PubMed IDs (PMIDs). has PubMed association 'part disjoint with' 'defined by construct' """ PREFIX owl: <http://www.w3.org/2002/07/owl#> PREFIX : <http://example.org/ CONSTRUCT { [ a owl:Restriction ; owl:onProperty :part_of ; owl:someValuesFrom ?a ; a owl:Restriction ; owl:onProperty :part_of ; owl:someValuesFrom ?b ] ] } WHERE { ?a :part_disjoint_with ?b . } Links an annotation property to a SPARQL CONSTRUCT query which is meant to provide semantics for a shortcut relation. defined by construct A subproperty of seeAlso that represents a NCIT identifier mapped to the specified term Oliver He term mapping to NCIT ID A subproperty of seeAlso that represents a UMLS CUI identifier mapped to the specified term Oliver He term mapping to UMLS CUI An annotation property that refers to a code defined by NCIT NCIT code alternative term in Chinese An assertion that holds between an OWL Object Property and a temporal interpretation that elucidates how OWL Class Axioms that use this property are to be interpreted in a temporal context. temporal interpretation temporal interpretation https://oborel.github.io/obo-relations/temporal-semantics/ https://code.google.com/p/obo-relations/wiki/ROAndTime https://github.com/oborel/obo-relations/wiki/ROAndTime tooth SubClassOf 'never in taxon' value 'Aves' S never_in_taxon T iff: S SubClassOf in_taxon only not T. x never in taxon T if and only if T is a class, and x does not instantiate the class expression "in taxon some T". Note that this is a shortcut relation, and should be used as a hasValue restriction in OWL. Chris Mungall ?X DisjointWith RO_0002162 some ?Y Class: <http://www.w3.org/2002/07/owl#Nothing> EquivalentTo: ?X and (RO_0002162 some ?Y) Class: ?X DisjointWith: RO_0002162 some ?Y PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#> PREFIX owl: <http://www.w3.org/2002/07/owl#> PREFIX in_taxon: <http://purl.obolibrary.org/obo/RO_0002162> PREFIX never_in_taxon: <http://purl.obolibrary.org/obo/RO_0002161> CONSTRUCT { in_taxon: a owl:ObjectProperty . a owl:Restriction ; owl:onProperty in_taxon: ; owl:someValuesFrom ?taxon ] . ?x rdfs:subClassOf [ a owl:Restriction ; owl:onProperty in_taxon: ; owl:someValuesFrom [ a owl:Class ; owl:complementOf ?taxon ] ] . } WHERE { ?x never_in_taxon: ?taxon . } RO:0002161 uberon never_in_taxon true true never_in_taxon never in taxon never_in_taxon An assertion that holds between an ontology class and an organism taxon class, which is intepreted to yield some relationship between instances of the ontology class and the taxon. taxonomic class assertion 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 1 1 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 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. PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#> PREFIX owl: <http://www.w3.org/2002/07/owl#> PREFIX in_taxon: <http://purl.obolibrary.org/obo/RO_0002162> PREFIX present_in_taxon: <http://purl.obolibrary.org/obo/RO_0002175> CONSTRUCT { in_taxon: a owl:ObjectProperty . ?witness rdfs:label ?label . ?witness rdfs:subClassOf ?x . ?witness rdfs:subClassOf [ a owl:Restriction ; owl:onProperty in_taxon: ; owl:someValuesFrom ?taxon ] . } WHERE { ?x present_in_taxon: ?taxon . BIND(IRI(CONCAT( "http://purl.obolibrary.org/obo/RO_0002175#", MD5(STR(?x)), "-", MD5(STR(?taxon)) )) as ?witness) BIND(CONCAT(STR(?x), " in taxon ", STR(?taxon)) AS ?label) } RO:0002175 applicable for taxon uberon present_in_taxon 1 true 1 true present_in_taxon The SPARQL expansion for this relation introduces new named classes into the ontology. For this reason it is likely that the expansion should only be performed during a QC pipeline; the expanded output should usually not be included in a published version of the ontology. present in taxon present_in_taxon An assertion that involves at least one OWL object that is intended to be expanded into one or more logical axioms. The logical expansion can yield axioms expressed using any formal logical system, including, but not limited to OWL2-DL. logical macro assertion logical macro assertion https://github.com/oborel/obo-relations/wiki/ShortcutRelations A logical macro assertion whose domain is an IRI for a class The domain for this class can be considered to be owl:Class, but we cannot assert this in OWL2-DL logical macro assertion on a class A logical macro assertion whose domain is an IRI for a property logical macro assertion on a property logical macro assertion on a property Used to annotate object properties to describe a logical meta-property or characteristic of the object property. logical macro assertion on an object property logical macro assertion on an object property logical macro assertion on an annotation property relation p is the direct form of relation q iff p is a subPropertyOf q, p does not have the Transitive characteristic, q does have the Transitive characteristic, and for all x, y: x q y -> exists z1, z2, ..., zn such that x p z1 ... z2n y If we have the annotation P is-direct-form-of Q, and we have inverses P' and Q', then it follows that P' is-direct-form-of Q' Chris Mungall is direct form of If R <- P o Q is a defining property chain axiom, then it also holds that R -> P o Q. Note that this cannot be expressed directly in OWL is a defining property chain axiom 2018-03-14T00:03:24Z is negative form 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 1 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 1 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 1 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 1 has_relational_adjective has_relational_adjective Notes on the how instances of this class vary across species. UBPROP:0000008 uberon taxon_notes 1 taxon_notes taxon_notes Notes on the structure, composition or histology of instances of this class. This annotation property may be replaced with an annotation property from an external ontology such as IAO UBPROP:0000010 uberon structure_notes 1 structure_notes structure_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 1 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 1 external_ontology_notes external_ontology_notes Notes on how lexical conventions regarding this class, in particular any issues that may arise due to homonyny or synonymy. This annotation property may be replaced with an annotation property from an external ontology such as IAO UBPROP:0000013 uberon terminology_notes 1 terminology_notes terminology_notes An annotation property that represents the trade name of a product. YH trade name trade name The vaccine Prevnar (trade name) has a FDA-defined proper name: Pneumococcal 7-valent Conjugate Vaccine (Diphtheria CRM197 Protein). Reference: https://www.fda.gov/biologicsbloodvaccines/vaccines/approvedproducts/ucm180017.htm An annotation property that represents the proper name of a vaccine, which is defined in an official way such as one defined by FDA. Oliver He, Kallan Roan vaccine proper name vaccine proper name The vaccine Prevnar has the manufacturer: Wyeth Pharmaceuticals Inc. Reference: https://www.fda.gov/biologicsbloodvaccines/vaccines/approvedproducts/ucm180017.htm An annotation property that represents the manufacturer of a product such as vaccine Oliver He, Kallan Roan manufacturer manufacturer The vaccine Prevnar has the indications: - Immunization of infants 2, 4, 6 and 12-15 months of age to prevent invasive pneumococcal disease. - Immunization of infants and toddlers against otitis media caused by vaccine serotypes. Reference: https://www.fda.gov/biologicsbloodvaccines/vaccines/approvedproducts/ucm180017.htm An annotation property that represents the indications of a vaccine defined by the USA FDA. Oliver He, Kallan Roan FDA vaccine indications FDA vaccine indications Prevnar has the package insert PDF URL: https://www.fda.gov/downloads/BiologicsBloodVaccines/Vaccines/ApprovedProducts/UCM137038.pdf . Recorded on 11/26/2018. An annotation property that represents a URL of the package insert PDF document of a licensed vaccine Oliver He, Kallan Roan vaccine package insert PDF URL vaccine package insert PDF URL A number that is generated by FDA based on a request from an applicant of a product licensing. Oliver He, Kallan Roan vaccine submission’s tracking number https://www.fda.gov/downloads/BiologicsBloodVaccines/GuidanceComplianceRegulatoryInformation/ProceduresSOPPs/UCM461225.pdf BLA 101094 vaccine STN excluded_from_qc_check true excluded from QC check excluded_subClassOf true excluded subClassOf A metadata relation between a class and its taxonomic rank (eg species, family) ncbi_taxonomy has_rank Examples of a Contributor include a person, an organisation, or a service. Typically, the name of a Contributor should be used to indicate the entity. uberon dc-contributor 1 true dc-contributor An entity responsible for making contributions to the content of the resource. Contributor Contributor contributor Examples of a Creator include a person, an organisation, or a service. Typically, the name of a Creator should be used to indicate the entity. http://purl.org/dc/elements/1.1/creator dc-creator dc-creator An entity primarily responsible for making the content of the resource. Creator Creator creator Typically, Date will be associated with the creation or availability of the resource. Recommended best practice for encoding the date value is defined in a profile of ISO 8601 [W3CDTF] and follows the YYYY-MM-DD format. A date associated with an event in the life cycle of the resource. Date Date Description may include but is not limited to: an abstract, table of contents, reference to a graphical representation of content or a free-text account of the content. http://purl.org/dc/elements/1.1/description uberon dc-description true dc-description An account of the content of the resource. Description Description description Typically, Format may include the media-type or dimensions of the resource. Format may be used to determine the software, hardware or other equipment needed to display or operate the resource. Examples of dimensions include size and duration. Recommended best practice is to select a value from a controlled vocabulary (for example, the list of Internet Media Types [MIME] defining computer media formats). The physical or digital manifestation of the resource. Format Format The present resource may be derived from the Source resource in whole or in part. Recommended best practice is to reference the resource by means of a string or number conforming to a formal identification system. A reference to a resource from which the present resource is derived. Source Source Typically, a Subject will be expressed as keywords, key phrases or classification codes that describe a topic of the resource. Recommended best practice is to select a value from a controlled vocabulary or formal classification scheme. The topic of the content of the resource. Subject and Keywords Subject and Keywords http://purl.org/dc/elements/1.1/title uberon dc-title true dc-title title http://purl.org/dc/terms/contributor uberon dc-contributor true dc-contributor contributor http://purl.org/dc/terms/date uberon dcterms-date true dcterms-date date Mark Miller 2018-05-11T13:47:29Z http://purl.org/dc/terms/license uberon dcterms-license true dcterms-license license consider created by creation date has_alternative_id An alternative label for a class or property which has a more general meaning than the preferred name/primary label. https://github.com/information-artifact-ontology/ontology-metadata/issues/18 has broad synonym has_broad_synonym https://github.com/information-artifact-ontology/ontology-metadata/issues/18 database_cross_reference An alternative label for a class or property which has the exact same meaning than the preferred name/primary label. 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. https://github.com/information-artifact-ontology/ontology-metadata/issues/20 FULL_SYN Synonym with Source Data has exact synonym has exact synonym has_exact_synonym https://github.com/information-artifact-ontology/ontology-metadata/issues/20 An alternative label for a class or property which has a more specific meaning than the preferred name/primary label. https://github.com/information-artifact-ontology/ontology-metadata/issues/19 has narrow synonym has_narrow_synonym https://github.com/information-artifact-ontology/ontology-metadata/issues/19 has_obo_format_version has_obo_namespace An alternative label for a class or property that has been used synonymously with the primary term name, but the usage is not strictly correct. https://github.com/information-artifact-ontology/ontology-metadata/issues/21 has related synonym has_related_synonym https://github.com/information-artifact-ontology/ontology-metadata/issues/21 id Used to associate the concept defining a particular terminology subset with concepts that belong to this subset. Concept_In_Subset in subset in_subset shorthand label label label http://www.w3.org/2000/01/rdf-schema#seeAlso uberon seeAlso true true seeAlso see also seeAlso uberon foaf-depicted_by 1 foaf-depicted_by depicted_by http://xmlns.com/foaf/0.1/depiction uberon depiction true depiction depiction C26 CI_ChemClass C36 CI_with C24 has_Ingredient C28 has_MoA C20 has_PE C32 has_PK C40 induces C38 may_prevent C34 may_treat is part of my brain is part of my body (continuant parthood, two material entities) my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity) this day is part of this year (occurrent parthood) a core relation that holds between a part and its whole Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other. Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/ Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See https://code.google.com/p/obo-relations/wiki/ROAndTime Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.) A continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'. part_of BFO:0000050 external protein quality uberon part_of part_of part of part of part_of http://www.obofoundry.org/ro/#OBO_REL:part_of https://wiki.geneontology.org/Part_of has part my body has part my brain (continuant parthood, two material entities) my stomach has part my stomach cavity (continuant parthood, material entity has part immaterial entity) this year has part this day (occurrent parthood) Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2. a core relation that holds between a whole and its part Everything has itself as a part. Any part of any part of a thing is itself part of that thing. Two distinct things cannot have each other as a part. Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/ Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See https://code.google.com/p/obo-relations/wiki/ROAndTime Parthood requires the part and the whole to have compatible classes: only an occurrent have an occurrent as part; only a process can have a process as part; only a continuant can have a continuant as part; only an independent continuant can have an independent continuant as part; only a specifically dependent continuant can have a specifically dependent continuant as part; only a generically dependent continuant can have a generically dependent continuant as part. (This list is not exhaustive.) A continuant cannot have an occurrent as part: use 'participates in'. An occurrent cannot have a continuant as part: use 'has participant'. An immaterial entity cannot have a material entity as part: use 'location of'. An independent continuant cannot have a specifically dependent continuant as part: use 'bearer of'. A specifically dependent continuant cannot have an independent continuant as part: use 'inheres in'. has_part BFO:0000051 external protein quality uberon has_part has_part has part has part has_part inheres-in_at inheresInAt b inheres_in c at t =Def. b is a dependent continuant & c is an independent continuant that is not a spatial region & b s-depends_on c at t. (axiom label in BFO2 Reference: [051-002]) Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance-level, relation. The BFO reading of the binary relation 'inheres in at all times@en' is: forall(t) exists_at(x,t) -> exists_at(y,t) and 'inheres in@en(x,y,t)'. BFO 2 Reference: Inherence is a subrelation of s-depends_on which holds between a dependent continuant and an independent continuant that is not a spatial region. Since dependent continuants cannot migrate from one independent continuant bearer to another, it follows that if b s-depends_on independent continuant c at some time, then b s-depends_on c at all times at which a exists. Inherence is in this sense redundantly time-indexed.For example, consider the particular instance of openness inhering in my mouth at t as I prepare to take a bite out of a donut, followed by a closedness at t+1 when I bite the donut and start chewing. The openness instance is then shortlived, and to say that it s-depends_on my mouth at all times at which this openness exists, means: at all times during this short life. Every time you make a fist, you make a new (instance of the universal) fist. (Every time your hand has the fist-shaped quality, there is created a new instance of the universal fist-shaped quality.) BFO2 Reference: independent continuant that is not a spatial region BFO2 Reference: specifically dependent continuant (iff (inheresInAt a b t) (and (DependentContinuant a) (IndependentContinuant b) (not (SpatialRegion b)) (specificallyDependsOnAt a b t))) // axiom label in BFO2 CLIF: [051-002] inheres in at all times bearer of bearer_of http://purl.obolibrary.org/obo/omrse.owl is bearer of is_bearer_of realized in this disease is realized in this disease course this fragility is realized in this shattering this investigator role is realized in this investigation is realized by realized_in http://purl.obolibrary.org/obo/ro.owl [copied from inverse property 'realizes'] to say that b realizes c at t is to assert that there is some material entity d & b is a process which has participant d at t & c is a disposition or role of which d is bearer_of at t& the type instantiated by b is correlated with the type instantiated by c. (axiom label in BFO2 Reference: [059-003]) BFO:0000054 realized_in realized_in Paraphrase of elucidation: a relation between a realizable entity and a process, where there is some material entity that is bearer of the realizable entity and participates in the process, and the realizable entity comes to be realized in the course of the process realized in realized in BFO_0000055 BFO_0000055s BFO_0000055ed realizes this disease course realizes this disease this investigation realizes this investigator role this shattering realizes this fragility to say that b realizes c at t is to assert that there is some material entity d & b is a process which has participant d at t & c is a disposition or role of which d is bearer_of at t& the type instantiated by b is correlated with the type instantiated by c. (axiom label in BFO2 Reference: [059-003]) Paraphrase of elucidation: a relation between a process and a realizable entity, where there is some material entity that is bearer of the realizable entity and participates in the process, and the realizable entity comes to be realized in the course of the process realizes concretized-by_st [copied from inverse property 'concretizes at some time'] You may concretize a piece of software by installing it in your computer [copied from inverse property 'concretizes at some time'] You may concretize a recipe that you find in a cookbook by turning it into a plan which exists as a realizable dependent continuant in your head. [copied from inverse property 'concretizes at some time'] you may concretize a poem as a pattern of memory traces in your head [copied from inverse property 'concretizes at some time'] Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance level, relation. The BFO reading of the binary relation 'concretizes at some time@en' is: exists t, exists_at(x,t) & exists_at(y,t) & 'concretizes@en'(x,y,t) [copied from inverse property 'concretizes at some time'] b concretizes c at t means: b is a specifically dependent continuant & c is a generically dependent continuant & for some independent continuant that is not a spatial region d, b s-depends_on d at t & c g-depends on d at t & if c migrates from bearer d to another bearer e than a copy of b will be created in e. (axiom label in BFO2 Reference: [075-002]) concretized by at some time concretizes_st concretizesAt You may concretize a piece of software by installing it in your computer You may concretize a recipe that you find in a cookbook by turning it into a plan which exists as a realizable dependent continuant in your head. you may concretize a poem as a pattern of memory traces in your head Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance level, relation. The BFO reading of the binary relation 'concretizes at some time@en' is: exists t, exists_at(x,t) & exists_at(y,t) & 'concretizes@en'(x,y,t) b concretizes c at t means: b is a specifically dependent continuant & c is a generically dependent continuant & for some independent continuant that is not a spatial region d, b s-depends_on d at t & c g-depends on d at t & if c migrates from bearer d to another bearer e than a copy of b will be created in e. (axiom label in BFO2 Reference: [075-002]) if b g-depends on c at some time t, then there is some d, such that d concretizes b at t and d s-depends_on c at t. (axiom label in BFO2 Reference: [076-001]) (forall (x y t) (if (concretizesAt x y t) (and (SpecificallyDependentContinuant x) (GenericallyDependentContinuant y) (exists (z) (and (IndependentContinuant z) (specificallyDependsOnAt x z t) (genericallyDependsOnAt y z t)))))) // axiom label in BFO2 CLIF: [075-002] (forall (x y t) (if (genericallyDependsOnAt x y t) (exists (z) (and (concretizesAt z x t) (specificallyDependsOnAt z y t))))) // axiom label in BFO2 CLIF: [076-001] concretizes at some time preceded by X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X) x is preceded by y if and only if the time point at which y ends is before or equivalent to the time point at which x starts. Formally: x preceded by y iff ω(y) <= α(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. An example is: translation preceded_by transcription; aging preceded_by development (not however death preceded_by aging). Where derives_from links classes of continuants, preceded_by links classes of processes. Clearly, however, these two relations are not independent of each other. Thus if cells of type C1 derive_from cells of type C, then any cell division involving an instance of C1 in a given lineage is preceded_by cellular processes involving an instance of C. The assertion P preceded_by P1 tells us something about Ps in general: that is, it tells us something about what happened earlier, given what we know about what happened later. Thus it does not provide information pointing in the opposite direction, concerning instances of P1 in general; that is, that each is such as to be succeeded by some instance of P. Note that an assertion to the effect that P preceded_by P1 is rather weak; it tells us little about the relations between the underlying instances in virtue of which the preceded_by relation obtains. Typically we will be interested in stronger relations, for example in the relation immediately_preceded_by, or in relations which combine preceded_by with a condition to the effect that the corresponding instances of P and P1 share participants, or that their participants are connected by relations of derivation, or (as a first step along the road to a treatment of causality) that the one process in some way affects (for example, initiates or regulates) the other. is preceded by preceded_by http://www.obofoundry.org/ro/#OBO_REL:preceded_by http://www.obofoundry.org/ro/#OBO_REL:preceded_by BFO:0000062 is preceded by takes place after external uberon preceded_by preceded_by preceded by preceded by preceded_by precedes x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. BFO:0000063 external uberon precedes precedes precedes precedes occurs in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t occurs_in unfolds in unfolds_in BFO:0000066 external occurs_in occurs_in Paraphrase of definition: a relation between a process and an independent continuant, in which the process takes place entirely within the independent continuant occurs in occurs in https://wiki.geneontology.org/Occurs_in site of [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t BFO:0000067 uberon contains_process contains_process Paraphrase of definition: a relation between an independent continuant and a process, in which the process takes place entirely within the independent continuant contains process contains process s-depends-on_at specificallyDependsOn A pain s-depends_on the organism that is experiencing the pain a gait s-depends_on the walking object. (All at some specific time.) a shape s-depends_on the shaped object one-sided s-dependence of a dependent continuant on an independent continuant: an instance of headache s-depends_on some head one-sided s-dependence of a dependent continuant on an independent continuant: an instance of temperature s-depends_on some organism one-sided s-dependence of a process on something: a process of cell death s-depends_on a cell one-sided s-dependence of a process on something: an instance of seeing (a relational process) s-depends_on some organism and on some seen entity, which may be an occurrent or a continuant one-sided s-dependence of one occurrent on another: a process of answering a question is dependent on a prior process of asking a question one-sided s-dependence of one occurrent on another: a process of obeying a command is dependent on a prior process of issuing a command one-sided s-dependence of one occurrent on multiple independent continuants: a relational process of hitting a ball with a cricket bat one-sided s-dependence of one occurrent on multiple independent continuants: a relational process of paying cash to a merchant in exchange for a bag of figs reciprocal s-dependence between occurrents: a process of buying and the associated process of selling reciprocal s-dependence between occurrents: a process of increasing the volume of a portion of gas while temperature remains constant and the associated process of decreasing the pressure exerted by the gas reciprocal s-dependence between occurrents: in a game of chess the process of playing with the white pieces is mutually dependent on the process of playing with the black pieces the one-sided dependence of an occurrent on an independent continuant: football match on the players, the ground, the ball the one-sided dependence of an occurrent on an independent continuant: handwave on a hand the three-sided reciprocal s-dependence of the hue, saturation and brightness of a color [45 the three-sided reciprocal s-dependence of the pitch, timbre and volume of a tone [45 the two-sided reciprocal s-dependence of the roles of husband and wife [20 Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance-level, relation. The BFO reading of the binary relation 'specifically depends on at all times@en' is: forall(t) exists_at(x,t) -> exists_at(y,t) and 'specifically depends on@en(x,y,t)'. BFO 2 Reference: An entity – for example an act of communication or a game of football – can s-depends_on more than one entity. Complex phenomena for example in the psychological and social realms (such as inferring, commanding and requesting) or in the realm of multi-organismal biological processes (such as infection and resistance), will involve multiple families of dependence relations, involving both continuants and occurrents [1, 4, 28 BFO 2 Reference: S-dependence is just one type of dependence among many; it is what, in the literature, is referred to as ‘existential dependence’ [87, 46, 65, 20 BFO 2 Reference: the relation of s-depends_on does not in every case require simultaneous existence of its relata. Note the difference between such cases and the cases of continuant universals defined historically: the act of answering depends existentially on the prior act of questioning; the human being who was baptized or who answered a question does not himself depend existentially on the prior act of baptism or answering. He would still exist even if these acts had never taken place. BFO2 Reference: specifically dependent continuant\; process; process boundary To say that b s-depends_on a at t is to say that b and c do not share common parts & b is of its nature such that it cannot exist unless c exists & b is not a boundary of c and b is not a site of which c is the host [64 If b is s-depends_on something at some time, then b is not a material entity. (axiom label in BFO2 Reference: [052-001]) If b s-depends_on something at t, then there is some c, which is an independent continuant and not a spatial region, such that b s-depends_on c at t. (axiom label in BFO2 Reference: [136-001]) If occurrent b s-depends_on some independent continuant c at t, then b s-depends_on c at every time at which b exists. (axiom label in BFO2 Reference: [015-002]) an entity does not s-depend_on any of its (continuant or occurrent) parts or on anything it is part of. (axiom label in BFO2 Reference: [013-002]) if b s-depends_on c at t & c s-depends_on d at t then b s-depends_on d at t. (axiom label in BFO2 Reference: [054-002]) (forall (x y t) (if (and (Entity x) (or (continuantPartOfAt y x t) (continuantPartOfAt x y t) (occurrentPartOf x y) (occurrentPartOf y x))) (not (specificallyDependsOnAt x y t)))) // axiom label in BFO2 CLIF: [013-002] (forall (x y t) (if (and (Occurrent x) (IndependentContinuant y) (specificallyDependsOnAt x y t)) (forall (t_1) (if (existsAt x t_1) (specificallyDependsOnAt x y t_1))))) // axiom label in BFO2 CLIF: [015-002] (forall (x y t) (if (specificallyDependsOnAt x y t) (exists (z) (and (IndependentContinuant z) (not (SpatialRegion z)) (specificallyDependsOnAt x z t))))) // axiom label in BFO2 CLIF: [136-001] (forall (x y z t) (if (and (specificallyDependsOnAt x y t) (specificallyDependsOnAt y z t)) (specificallyDependsOnAt x z t))) // axiom label in BFO2 CLIF: [054-002] (forall (x) (if (exists (y t) (specificallyDependsOnAt x y t)) (not (MaterialEntity x)))) // axiom label in BFO2 CLIF: [052-001] specifically depends on at all times located-at-r_st occupiesSpatialRegionAt Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance level, relation. The BFO reading of the binary relation 'occupies spatial region at some time@en' is: exists t, exists_at(x,t) & exists_at(y,t) & 'occupies spatial region@en'(x,y,t) BFO2 Reference: independent continuant BFO2 Reference: spatial region b occupies_spatial_region r at t means that r is a spatial region in which independent continuant b is exactly located (axiom label in BFO2 Reference: [041-002]) every region r is occupies_spatial_region r at all times. (axiom label in BFO2 Reference: [042-002]) if b occupies_spatial_region r at t & b continuant_part_of b at t, then there is some r which is continuant_part_of r at t such that b occupies_spatial_region r at t. (axiom label in BFO2 Reference: [043-001]) (forall (r t) (if (Region r) (occupiesSpatialRegionAt r r t))) // axiom label in BFO2 CLIF: [042-002] (forall (x r t) (if (occupiesSpatialRegionAt x r t) (and (SpatialRegion r) (IndependentContinuant x)))) // axiom label in BFO2 CLIF: [041-002] (forall (x y r_1 t) (if (and (occupiesSpatialRegionAt x r_1 t) (continuantPartOfAt y x t)) (exists (r_2) (and (continuantPartOfAt r_2 r_1 t) (occupiesSpatialRegionAt y r_2 t))))) // axiom label in BFO2 CLIF: [043-001] occupies spatial region at some time exists-at existsAt BFO2 Reference: entity BFO2 Reference: temporal region b exists_at t means: b is an entity which exists at some temporal region t. (axiom label in BFO2 Reference: [118-002]) exists at BFO_0000117 BFO_0000117s BFO_0000117ed o-has-part hasOccurrentPart [copied from inverse property 'part of occurrent'] Mary’s 5th birthday occurrent_part_of Mary’s life [copied from inverse property 'part of occurrent'] The process of a footballer’s heart beating once is an occurrent part but not a temporal_part of a game of football. [copied from inverse property 'part of occurrent'] the first set of the tennis match occurrent_part_of the tennis match. b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) [copied from inverse property 'part of occurrent'] BFO 2 Reference: a (continuant or occurrent) part of itself. We appreciate that this is counterintuitive for some users, since it implies for example that President Obama is a part of himself. However it brings benefits in simplifying the logical formalism, and it captures an important feature of identity, namely that it is the limit case of mereological inclusion. [copied from inverse property 'part of occurrent'] BFO2 Reference: occurrent [copied from inverse property 'part of occurrent'] b occurrent_part_of c =Def. b is a part of c & b and c are occurrents. (axiom label in BFO2 Reference: [003-002]) (iff (hasOccurrentPart a b) (occurrentPartOf b a)) // axiom label in BFO2 CLIF: [007-001] has occurrent part o-has-ppart hasProperOccurrentPart [copied from inverse property 'proper part of occurrent'] b proper_occurrent_part_of c =Def. b occurrent_part_of c & b and c are not identical. (axiom label in BFO2 Reference: [005-001]) b has_proper_occurrent_part c = Def. c proper_occurrent_part_of b. [XXX-001 has proper occurrent part r-location-of_st [copied from inverse property 'occupies spatial region at some time'] Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance level, relation. The BFO reading of the binary relation 'occupies spatial region at some time@en' is: exists t, exists_at(x,t) & exists_at(y,t) & 'occupies spatial region@en'(x,y,t) [copied from inverse property 'occupies spatial region at some time'] BFO2 Reference: independent continuant [copied from inverse property 'occupies spatial region at some time'] BFO2 Reference: spatial region [copied from inverse property 'occupies spatial region at some time'] b occupies_spatial_region r at t means that r is a spatial region in which independent continuant b is exactly located (axiom label in BFO2 Reference: [041-002]) has spatial occupant at some time has-s-dep_st [copied from inverse property 'specifically depends on at some time'] A pain s-depends_on the organism that is experiencing the pain [copied from inverse property 'specifically depends on at some time'] a gait s-depends_on the walking object. (All at some specific time.) [copied from inverse property 'specifically depends on at some time'] a shape s-depends_on the shaped object [copied from inverse property 'specifically depends on at some time'] one-sided s-dependence of a dependent continuant on an independent continuant: an instance of headache s-depends_on some head [copied from inverse property 'specifically depends on at some time'] one-sided s-dependence of a dependent continuant on an independent continuant: an instance of temperature s-depends_on some organism [copied from inverse property 'specifically depends on at some time'] one-sided s-dependence of a process on something: a process of cell death s-depends_on a cell [copied from inverse property 'specifically depends on at some time'] one-sided s-dependence of a process on something: an instance of seeing (a relational process) s-depends_on some organism and on some seen entity, which may be an occurrent or a continuant [copied from inverse property 'specifically depends on at some time'] one-sided s-dependence of one occurrent on another: a process of answering a question is dependent on a prior process of asking a question [copied from inverse property 'specifically depends on at some time'] one-sided s-dependence of one occurrent on another: a process of obeying a command is dependent on a prior process of issuing a command [copied from inverse property 'specifically depends on at some time'] one-sided s-dependence of one occurrent on multiple independent continuants: a relational process of hitting a ball with a cricket bat [copied from inverse property 'specifically depends on at some time'] one-sided s-dependence of one occurrent on multiple independent continuants: a relational process of paying cash to a merchant in exchange for a bag of figs [copied from inverse property 'specifically depends on at some time'] reciprocal s-dependence between occurrents: a process of buying and the associated process of selling [copied from inverse property 'specifically depends on at some time'] reciprocal s-dependence between occurrents: a process of increasing the volume of a portion of gas while temperature remains constant and the associated process of decreasing the pressure exerted by the gas [copied from inverse property 'specifically depends on at some time'] reciprocal s-dependence between occurrents: in a game of chess the process of playing with the white pieces is mutually dependent on the process of playing with the black pieces [copied from inverse property 'specifically depends on at some time'] the one-sided dependence of an occurrent on an independent continuant: football match on the players, the ground, the ball [copied from inverse property 'specifically depends on at some time'] the one-sided dependence of an occurrent on an independent continuant: handwave on a hand [copied from inverse property 'specifically depends on at some time'] the three-sided reciprocal s-dependence of the hue, saturation and brightness of a color [45 [copied from inverse property 'specifically depends on at some time'] the three-sided reciprocal s-dependence of the pitch, timbre and volume of a tone [45 [copied from inverse property 'specifically depends on at some time'] the two-sided reciprocal s-dependence of the roles of husband and wife [20 [copied from inverse property 'specifically depends on at some time'] Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance level, relation. The BFO reading of the binary relation 'specifically depends on at some time@en' is: exists t, exists_at(x,t) & exists_at(y,t) & 'specifically depends on@en'(x,y,t) [copied from inverse property 'specifically depends on at some time'] BFO 2 Reference: An entity – for example an act of communication or a game of football – can s-depends_on more than one entity. Complex phenomena for example in the psychological and social realms (such as inferring, commanding and requesting) or in the realm of multi-organismal biological processes (such as infection and resistance), will involve multiple families of dependence relations, involving both continuants and occurrents [1, 4, 28 [copied from inverse property 'specifically depends on at some time'] BFO 2 Reference: S-dependence is just one type of dependence among many; it is what, in the literature, is referred to as ‘existential dependence’ [87, 46, 65, 20 [copied from inverse property 'specifically depends on at some time'] BFO 2 Reference: the relation of s-depends_on does not in every case require simultaneous existence of its relata. Note the difference between such cases and the cases of continuant universals defined historically: the act of answering depends existentially on the prior act of questioning; the human being who was baptized or who answered a question does not himself depend existentially on the prior act of baptism or answering. He would still exist even if these acts had never taken place. [copied from inverse property 'specifically depends on at some time'] BFO2 Reference: specifically dependent continuant\; process; process boundary [copied from inverse property 'specifically depends on at some time'] To say that b s-depends_on a at t is to say that b and c do not share common parts & b is of its nature such that it cannot exist unless c exists & b is not a boundary of c and b is not a site of which c is the host [64 has specific dependent at some time occupied-by [copied from inverse property 'occupies spatiotemporal region'] BFO 2 Reference: The occupies_spatiotemporal_region and occupies_temporal_region relations are the counterpart, on the occurrent side, of the relation occupies_spatial_region. [copied from inverse property 'occupies spatiotemporal region'] p occupies_spatiotemporal_region s. This is a primitive relation between an occurrent p and the spatiotemporal region s which is its spatiotemporal extent. (axiom label in BFO2 Reference: [082-003]) has spatiotemporal occupant occupies occupiesSpatiotemporalRegion BFO 2 Reference: The occupies_spatiotemporal_region and occupies_temporal_region relations are the counterpart, on the occurrent side, of the relation occupies_spatial_region. p occupies_spatiotemporal_region s. This is a primitive relation between an occurrent p and the spatiotemporal region s which is its spatiotemporal extent. (axiom label in BFO2 Reference: [082-003]) occupies spatiotemporal region BFO_0000132 BFO_0000132s BFO_0000132ed o-part-of occurrentPartOf Mary’s 5th birthday occurrent_part_of Mary’s life The process of a footballer’s heart beating once is an occurrent part but not a temporal_part of a game of football. the first set of the tennis match occurrent_part_of the tennis match. [copied from inverse property 'has occurrent part'] b has_occurrent_part c = Def. c occurrent_part_of b. (axiom label in BFO2 Reference: [007-001]) BFO 2 Reference: a (continuant or occurrent) part of itself. We appreciate that this is counterintuitive for some users, since it implies for example that President Obama is a part of himself. However it brings benefits in simplifying the logical formalism, and it captures an important feature of identity, namely that it is the limit case of mereological inclusion. BFO2 Reference: occurrent b occurrent_part_of c =Def. b is a part of c & b and c are occurrents. (axiom label in BFO2 Reference: [003-002]) occurrent_part_of is antisymmetric. (axiom label in BFO2 Reference: [123-001]) occurrent_part_of is reflexive (every occurrent entity is an occurrent_part_of itself). (axiom label in BFO2 Reference: [113-002]) occurrent_part_of is transitive. (axiom label in BFO2 Reference: [112-001]) occurrent_part_of satisfies unique product. (axiom label in BFO2 Reference: [125-001]) occurrent_part_of satisfies weak supplementation. (axiom label in BFO2 Reference: [124-001]) (forall (x y t) (if (and (occurrentPartOf x y t) (not (= x y))) (exists (z) (and (occurrentPartOf z y t) (not (exists (w) (and (occurrentPartOf w x t) (occurrentPartOf w z t)))))))) // axiom label in BFO2 CLIF: [124-001] (forall (x y t) (if (and (occurrentPartOf x y t) (occurrentPartOf y x t)) (= x y))) // axiom label in BFO2 CLIF: [123-001] (forall (x y t) (if (exists (v) (and (occurrentPartOf v x t) (occurrentPartOf v y t))) (exists (z) (forall (u w) (iff (iff (occurrentPartOf w u t) (and (occurrentPartOf w x t) (occurrentPartOf w y t))) (= z u)))))) // axiom label in BFO2 CLIF: [125-001] (forall (x y z) (if (and (occurrentPartOf x y) (occurrentPartOf y z)) (occurrentPartOf x z))) // axiom label in BFO2 CLIF: [112-001] (forall (x) (if (Occurrent x) (occurrentPartOf x x))) // axiom label in BFO2 CLIF: [113-002] part of occurrent o-ppart-of properOccurrentPartOf [copied from inverse property 'has proper occurrent part'] b has_proper_occurrent_part c = Def. c proper_occurrent_part_of b. [XXX-001 b proper_occurrent_part_of c =Def. b occurrent_part_of c & b and c are not identical. (axiom label in BFO2 Reference: [005-001]) (iff (properOccurrentPartOf a b) (and (occurrentPartOf a b) (not (= a b)))) // axiom label in BFO2 CLIF: [005-001] proper part of occurrent t-part-of temporalPartOf the 4th year of your life is a temporal part of your life\. The first quarter of a game of football is a temporal part of the whole game\. The process of your heart beating from 4pm to 5pm today is a temporal part of the entire process of your heart beating.\ The 4th year of your life is a temporal part of your life the process boundary which separates the 3rd and 4th years of your life. your heart beating from 4pm to 5pm today is a temporal part of the process of your heart beating b proper_temporal_part_of c =Def. b temporal_part_of c & not (b = c). (axiom label in BFO2 Reference: [116-001]) b temporal_part_of c =Def.b occurrent_part_of c & & for some temporal region t, b occupies_temporal_region t & for all occurrents d, t (if d occupies_temporal_region t & t? occurrent_part_of t then (d occurrent_part_of a iff d occurrent_part_of b)). (axiom label in BFO2 Reference: [078-003]) if b proper_temporal_part_of c, then there is some d which is a proper_temporal_part_of c and which shares no parts with b. (axiom label in BFO2 Reference: [117-002]) (forall (x y) (if (properTemporalPartOf x y) (exists (z) (and (properTemporalPartOf z y) (not (exists (w) (and (temporalPartOf w x) (temporalPartOf w z)))))))) // axiom label in BFO2 CLIF: [117-002] (iff (properTemporalPartOf a b) (and (temporalPartOf a b) (not (= a b)))) // axiom label in BFO2 CLIF: [116-001] (iff (temporalPartOf a b) (and (occurrentPartOf a b) (exists (t) (and (TemporalRegion t) (occupiesSpatioTemporalRegion a t))) (forall (c t_1) (if (and (Occurrent c) (occupiesSpatioTemporalRegion c t_1) (occurrentPartOf t_1 r)) (iff (occurrentPartOf c a) (occurrentPartOf c b)))))) // axiom label in BFO2 CLIF: [078-003] temporal part of st-projects-onto-s_st projects onto spatial region at some time s-projection-of-st_st spatial projection of spatiotemporal at some time st-projects-onto-t projects onto temporal region t-projection-of-st temporal projection of spatiotemporal spans occupiesTemporalRegion p occupies_temporal_region t. This is a primitive relation between an occurrent p and the temporal region t upon which the spatiotemporal region p occupies_spatiotemporal_region projects. (axiom label in BFO2 Reference: [132-001]) occupies temporal region span-of spanOf [copied from inverse property 'occupies temporal region'] p occupies_temporal_region t. This is a primitive relation between an occurrent p and the temporal region t upon which the spatiotemporal region p occupies_spatiotemporal_region projects. (axiom label in BFO2 Reference: [132-001]) has temporal occupant during-which-exists [copied from inverse property 'exists at'] BFO2 Reference: entity [copied from inverse property 'exists at'] BFO2 Reference: temporal region [copied from inverse property 'exists at'] b exists_at t means: b is an entity which exists at some temporal region t. (axiom label in BFO2 Reference: [118-002]) during which exists bearer-of_at bearerOfAt b bearer_of c at t =Def. c s-depends_on b at t & b is an independent continuant that is not a spatial region. (axiom label in BFO2 Reference: [053-004]) Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance-level, relation. The BFO reading of the binary relation 'bearer of at all times@en' is: forall(t) exists_at(x,t) -> exists_at(y,t) and 'bearer of@en(x,y,t)'. BFO2 Reference: independent continuant that is not a spatial region BFO2 Reference: specifically dependent continuant (iff (bearerOfAt a b t) (and (specificallyDependsOnAt b a t) (IndependentContinuant a) (not (SpatialRegion a)) (existsAt b t))) // axiom label in BFO2 CLIF: [053-004] bearer of at all times has-d_at hasDispositionAt a has_disposition b at t =Def. b disposition_of a at t. (axiom label in BFO2 Reference: [069-001]) Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance-level, relation. The BFO reading of the binary relation 'has disposition at all times@en' is: forall(t) exists_at(x,t) -> exists_at(y,t) and 'has disposition@en(x,y,t)'. (iff (hasDispositionAt a b t) (dispositionOf b a t)) // axiom label in BFO2 CLIF: [069-001] has disposition at all times BFO_0000167 BFO_0000167s BFO_0000167ed has participant at all times has-s-dep_at has specific dependent at all times s-depends-on_st specificallyDependsOn A pain s-depends_on the organism that is experiencing the pain a gait s-depends_on the walking object. (All at some specific time.) a shape s-depends_on the shaped object one-sided s-dependence of a dependent continuant on an independent continuant: an instance of headache s-depends_on some head one-sided s-dependence of a dependent continuant on an independent continuant: an instance of temperature s-depends_on some organism one-sided s-dependence of a process on something: a process of cell death s-depends_on a cell one-sided s-dependence of a process on something: an instance of seeing (a relational process) s-depends_on some organism and on some seen entity, which may be an occurrent or a continuant one-sided s-dependence of one occurrent on another: a process of answering a question is dependent on a prior process of asking a question one-sided s-dependence of one occurrent on another: a process of obeying a command is dependent on a prior process of issuing a command one-sided s-dependence of one occurrent on multiple independent continuants: a relational process of hitting a ball with a cricket bat one-sided s-dependence of one occurrent on multiple independent continuants: a relational process of paying cash to a merchant in exchange for a bag of figs reciprocal s-dependence between occurrents: a process of buying and the associated process of selling reciprocal s-dependence between occurrents: a process of increasing the volume of a portion of gas while temperature remains constant and the associated process of decreasing the pressure exerted by the gas reciprocal s-dependence between occurrents: in a game of chess the process of playing with the white pieces is mutually dependent on the process of playing with the black pieces the one-sided dependence of an occurrent on an independent continuant: football match on the players, the ground, the ball the one-sided dependence of an occurrent on an independent continuant: handwave on a hand the three-sided reciprocal s-dependence of the hue, saturation and brightness of a color [45 the three-sided reciprocal s-dependence of the pitch, timbre and volume of a tone [45 the two-sided reciprocal s-dependence of the roles of husband and wife [20 Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance level, relation. The BFO reading of the binary relation 'specifically depends on at some time@en' is: exists t, exists_at(x,t) & exists_at(y,t) & 'specifically depends on@en'(x,y,t) BFO 2 Reference: An entity – for example an act of communication or a game of football – can s-depends_on more than one entity. Complex phenomena for example in the psychological and social realms (such as inferring, commanding and requesting) or in the realm of multi-organismal biological processes (such as infection and resistance), will involve multiple families of dependence relations, involving both continuants and occurrents [1, 4, 28 BFO 2 Reference: S-dependence is just one type of dependence among many; it is what, in the literature, is referred to as ‘existential dependence’ [87, 46, 65, 20 BFO 2 Reference: the relation of s-depends_on does not in every case require simultaneous existence of its relata. Note the difference between such cases and the cases of continuant universals defined historically: the act of answering depends existentially on the prior act of questioning; the human being who was baptized or who answered a question does not himself depend existentially on the prior act of baptism or answering. He would still exist even if these acts had never taken place. BFO2 Reference: specifically dependent continuant\; process; process boundary To say that b s-depends_on a at t is to say that b and c do not share common parts & b is of its nature such that it cannot exist unless c exists & b is not a boundary of c and b is not a site of which c is the host [64 If b is s-depends_on something at some time, then b is not a material entity. (axiom label in BFO2 Reference: [052-001]) If b s-depends_on something at t, then there is some c, which is an independent continuant and not a spatial region, such that b s-depends_on c at t. (axiom label in BFO2 Reference: [136-001]) If occurrent b s-depends_on some independent continuant c at t, then b s-depends_on c at every time at which b exists. (axiom label in BFO2 Reference: [015-002]) an entity does not s-depend_on any of its (continuant or occurrent) parts or on anything it is part of. (axiom label in BFO2 Reference: [013-002]) if b s-depends_on c at t & c s-depends_on d at t then b s-depends_on d at t. (axiom label in BFO2 Reference: [054-002]) (forall (x y t) (if (and (Entity x) (or (continuantPartOfAt y x t) (continuantPartOfAt x y t) (occurrentPartOf x y) (occurrentPartOf y x))) (not (specificallyDependsOnAt x y t)))) // axiom label in BFO2 CLIF: [013-002] (forall (x y t) (if (and (Occurrent x) (IndependentContinuant y) (specificallyDependsOnAt x y t)) (forall (t_1) (if (existsAt x t_1) (specificallyDependsOnAt x y t_1))))) // axiom label in BFO2 CLIF: [015-002] (forall (x y t) (if (specificallyDependsOnAt x y t) (exists (z) (and (IndependentContinuant z) (not (SpatialRegion z)) (specificallyDependsOnAt x z t))))) // axiom label in BFO2 CLIF: [136-001] (forall (x y z t) (if (and (specificallyDependsOnAt x y t) (specificallyDependsOnAt y z t)) (specificallyDependsOnAt x z t))) // axiom label in BFO2 CLIF: [054-002] (forall (x) (if (exists (y t) (specificallyDependsOnAt x y t)) (not (MaterialEntity x)))) // axiom label in BFO2 CLIF: [052-001] specifically depends on at some time c-part-of_st continuantPartOfAt Mary’s arm continuant_part_of Mary in the time of her life prior to her operation the Northern hemisphere of the planet Earth is a part of the planet Earth at all times at which the planet Earth exists. [copied from inverse property 'has continuant part at some time'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance level, relation. The BFO reading of the binary relation 'part of continuant at some time@en' is: exists t, exists_at(x,t) & exists_at(y,t) & 'part of continuant@en'(x,y,t) BFO 2 Reference: Immaterial entities are in some cases continuant parts of their material hosts. Thus the hold of a ship, for example, is a part of the ship; it may itself have parts, which may have names (used for example by ship stow planners, customs inspectors, and the like). Immaterial entities under both 1. and 2. can be of zero, one, two or three dimensions. We define:a(immaterial entity)[Definition: a is an immaterial entity = Def. a is an independent continuant that has no material entities as parts. (axiom label in BFO2 Reference: [028-001]) BFO 2 Reference: a (continuant or occurrent) part of itself. We appreciate that this is counterintuitive for some users, since it implies for example that President Obama is a part of himself. However it brings benefits in simplifying the logical formalism, and it captures an important feature of identity, namely that it is the limit case of mereological inclusion. BFO2 Reference: continuant BFO2 Reference: continuantThe range for ‘t’ (as in all cases throughout this document unless otherwise specified) is: temporal region. [copied from inverse property 'has continuant part at some time'] Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance level, relation. The BFO reading of the binary relation 'has continuant part at some time@en' is: exists t, exists_at(x,t) & exists_at(y,t) & 'has continuant part@en'(x,y,t) b continuant_part_of c at t =Def. b is a part of c at t & t is a time & b and c are continuants. (axiom label in BFO2 Reference: [002-001]) continuant_part_of is antisymmetric. (axiom label in BFO2 Reference: [120-001]) continuant_part_of is reflexive (every continuant entity is a continuant_part_of itself). (axiom label in BFO2 Reference: [111-002]) continuant_part_of is transitive. (axiom label in BFO2 Reference: [110-001]) continuant_part_of satisfies unique product. (axiom label in BFO2 Reference: [122-001]) continuant_part_of satisfies weak supplementation. (axiom label in BFO2 Reference: [121-001]) if b continuant_part_of c at t and b is an independent continuant, then b is located_in c at t. (axiom label in BFO2 Reference: [047-002]) (forall (x t) (if (Continuant x) (continuantPartOfAt x x t))) // axiom label in BFO2 CLIF: [111-002] (forall (x y t) (if (and (continuantPartOfAt x y t) (IndependentContinuant x)) (locatedInAt x y t))) // axiom label in BFO2 CLIF: [047-002] (forall (x y t) (if (and (continuantPartOfAt x y t) (continuantPartOfAt y x t)) (= x y))) // axiom label in BFO2 CLIF: [120-001] (forall (x y t) (if (and (continuantPartOfAt x y t) (not (= x y))) (exists (z) (and (continuantPartOfAt z y t) (not (exists (w) (and (continuantPartOfAt w x t) (continuantPartOfAt w z t)))))))) // axiom label in BFO2 CLIF: [121-001] (forall (x y t) (if (exists (v) (and (continuantPartOfAt v x t) (continuantPartOfAt v y t))) (exists (z) (forall (u w) (iff (iff (continuantPartOfAt w u t) (and (continuantPartOfAt w x t) (continuantPartOfAt w y t))) (= z u)))))) // axiom label in BFO2 CLIF: [122-001] (forall (x y z t) (if (and (continuantPartOfAt x y t) (continuantPartOfAt y z t)) (continuantPartOfAt x z t))) // axiom label in BFO2 CLIF: [110-001] (iff (ImmaterialEntity a) (and (IndependentContinuant a) (not (exists (b t) (and (MaterialEntity b) (continuantPartOfAt b a t)))))) // axiom label in BFO2 CLIF: [028-001] part of continuant at some time c-has-part_st hasContinuantPartAt [copied from inverse property 'part of continuant at some time'] Mary’s arm continuant_part_of Mary in the time of her life prior to her operation [copied from inverse property 'part of continuant at some time'] the Northern hemisphere of the planet Earth is a part of the planet Earth at all times at which the planet Earth exists. b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance level, relation. The BFO reading of the binary relation 'has continuant part at some time@en' is: exists t, exists_at(x,t) & exists_at(y,t) & 'has continuant part@en'(x,y,t) [copied from inverse property 'part of continuant at some time'] Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance level, relation. The BFO reading of the binary relation 'part of continuant at some time@en' is: exists t, exists_at(x,t) & exists_at(y,t) & 'part of continuant@en'(x,y,t) [copied from inverse property 'part of continuant at some time'] BFO 2 Reference: Immaterial entities are in some cases continuant parts of their material hosts. Thus the hold of a ship, for example, is a part of the ship; it may itself have parts, which may have names (used for example by ship stow planners, customs inspectors, and the like). Immaterial entities under both 1. and 2. can be of zero, one, two or three dimensions. We define:a(immaterial entity)[Definition: a is an immaterial entity = Def. a is an independent continuant that has no material entities as parts. (axiom label in BFO2 Reference: [028-001]) [copied from inverse property 'part of continuant at some time'] BFO 2 Reference: a (continuant or occurrent) part of itself. We appreciate that this is counterintuitive for some users, since it implies for example that President Obama is a part of himself. However it brings benefits in simplifying the logical formalism, and it captures an important feature of identity, namely that it is the limit case of mereological inclusion. [copied from inverse property 'part of continuant at some time'] BFO2 Reference: continuant [copied from inverse property 'part of continuant at some time'] BFO2 Reference: continuantThe range for ‘t’ (as in all cases throughout this document unless otherwise specified) is: temporal region. [copied from inverse property 'part of continuant at some time'] b continuant_part_of c at t =Def. b is a part of c at t & t is a time & b and c are continuants. (axiom label in BFO2 Reference: [002-001]) (iff (hasContinuantPartAt a b t) (continuantPartOfAt b a t)) // axiom label in BFO2 CLIF: [006-001] has continuant part at some time c-part-of-object_at [copied from inverse property 'has continuant part at all times'] b has_continuant_part c at t = Def. c continuant_part_of b at t. (axiom label in BFO2 Reference: [006-001]) forall(t) exists_at(y,t) -> exists_at(x,t) and 'part of continuant'(x,y,t) This is a binary version of a ternary time-indexed, instance level, relation. Unlike the rest of the temporalized relations which temporally quantify over existence of the subject of the relation, this relation temporally quantifies over the existence of the object of the relation. The relation is provided tentatively, to assess whether the GO needs such a relation. It is inverse of 'has continuant part at all times' [copied from inverse property 'has continuant part at all times'] Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance-level, relation. The BFO reading of the binary relation 'has continuant part at all times@en' is: forall(t) exists_at(x,t) -> exists_at(y,t) and 'has continuant part@en(x,y,t)'. part of continuant at all times that whole exists c-has-part-object_at [copied from inverse property 'part of continuant at all times'] Mary’s arm continuant_part_of Mary in the time of her life prior to her operation [copied from inverse property 'part of continuant at all times'] the Northern hemisphere of the planet Earth is a part of the planet Earth at all times at which the planet Earth exists. forall(t) exists_at(y,t) -> exists_at(x,t) and 'has continuant part'(x,y,t) This is a binary version of a ternary time-indexed, instance level, relation. Unlike the rest of the temporalized relations which temporally quantify over existence of the subject of the relation, this relation temporally quantifies over the existence of the object of the relation. The relation is provided tentatively, to assess whether the GO needs such a relation. It is inverse of 'part of continuant at all times' [copied from inverse property 'part of continuant at all times'] Alan Ruttenberg: This is a binary version of a ternary time-indexed, instance-level, relation. The BFO reading of the binary relation 'part of continuant at all times@en' is: forall(t) exists_at(x,t) -> exists_at(y,t) and 'part of continuant@en(x,y,t)'. [copied from inverse property 'part of continuant at all times'] BFO 2 Reference: Immaterial entities are in some cases continuant parts of their material hosts. Thus the hold of a ship, for example, is a part of the ship; it may itself have parts, which may have names (used for example by ship stow planners, customs inspectors, and the like). Immaterial entities under both 1. and 2. can be of zero, one, two or three dimensions. We define:a(immaterial entity)[Definition: a is an immaterial entity = Def. a is an independent continuant that has no material entities as parts. (axiom label in BFO2 Reference: [028-001]) [copied from inverse property 'part of continuant at all times'] BFO 2 Reference: a (continuant or occurrent) part of itself. We appreciate that this is counterintuitive for some users, since it implies for example that President Obama is a part of himself. However it brings benefits in simplifying the logical formalism, and it captures an important feature of identity, namely that it is the limit case of mereological inclusion. [copied from inverse property 'part of continuant at all times'] BFO2 Reference: continuant [copied from inverse property 'part of continuant at all times'] BFO2 Reference: continuantThe range for ‘t’ (as in all cases throughout this document unless otherwise specified) is: temporal region. [copied from inverse property 'part of continuant at all times'] b continuant_part_of c at t =Def. b is a part of c at t & t is a time & b and c are continuants. (axiom label in BFO2 Reference: [002-001]) has continuant part at all times that part exists x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer cjm 2009-07-31T02:15:46Z BSPO:0000096 uberon anterior_to anterior_to anterior to anterior_to x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). BSPO:0000097 uberon distal_to distal_to distal to distal_to x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). BSPO:0000098 uberon dorsal_to dorsal_to dorsal to dorsal_to x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail. caudal_to posterior_to x proximal_to y iff x is closer to the point of attachment with the body than y. proximal_to x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). BSPO:0000102 uberon ventral_to ventral_to ventral to ventral_to Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. BSPO:0000107 uberon deep_to deep_to deep_to Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. BSPO:0000108 uberon superficial_to superficial_to superficial_to X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. BSPO:0000120 in_left_side_of in_left_side_of in left side of in_left_side_of X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion. BSPO:0000121 uberon in_right_side_of in_right_side_of in right side of in_right_side_of X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. in_posterior_side_of X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion. in_anterior_side_of X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion. BSPO:0000124 uberon in_proximal_side_of in_proximal_side_of in_proximal_side_of X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. BSPO:0000125 uberon in_distal_side_of in_distal_side_of in_distal_side_of X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure BSPO:0000126 uberon in_lateral_side_of in_lateral_side_of in lateral side of in_lateral_side_of https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y BSPO:0001106 uberon proximalmost_part_of proximalmost_part_of proximalmost part of proximalmost_part_of This relation holds when both the deep_to and ajdacent_to relationship similarly hold. immediately_deep_to X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y BSPO:0001108 uberon distalmost_part_of distalmost_part_of distalmost part of distalmost_part_of has_not_completed http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 ?Y lacks_part http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 (http://purl.obolibrary.org/obo/GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y) lacks_plasma_membrane_part GOREL:0002004 external results_in_fission_of results_in_fission_of results in fission of results_in_fission_of has measurement unit label This document is about information artifacts and their representations A (currently) primitive relation that relates an information artifact to an entity. is_about is a (currently) primitive relation that relates an information artifact to an entity. 7/6/2009 Alan Ruttenberg. Following discussion with Jonathan Rees, and introduction of "mentions" relation. Weaken the is_about relationship to be primitive. We will try to build it back up by elaborating the various subproperties that are more precisely defined. Some currently missing phenomena that should be considered "about" are predications - "The only person who knows the answer is sitting beside me" , Allegory, Satire, and other literary forms that can be topical without explicitly mentioning the topic. person:Alan Ruttenberg Smith, Ceusters, Ruttenberg, 2000 years of philosophy is about A person's name denotes the person. A variable name in a computer program denotes some piece of memory. Lexically equivalent strings can denote different things, for instance "Alan" can denote different people. In each case of use, there is a case of the denotation relation obtaining, between "Alan" and the person that is being named. A primitive, instance-level, relation obtaining between an information content entity and some portion of reality. Denotation is what happens when someone creates an information content entity E in order to specifically refer to something. The only relation between E and the thing is that E can be used to 'pick out' the thing. This relation connects those two together. Freedictionary.com sense 3: To signify directly; refer to specifically denotes is a primitive, instance-level, relation obtaining between an information content entity and some portion of reality. Denotation is what happens when someone creates an information content entity E in order to specifically refer to something. The only relation between E and the thing is that E can be used to 'pick out' the thing. This relation connects those two together. Freedictionary.com sense 3: To signify directly; refer to specifically 2009-11-10 Alan Ruttenberg. Old definition said the following to emphasize the generic nature of this relation. We no longer have 'specifically denotes', which would have been primitive, so make this relation primitive. g denotes r =def r is a portion of reality there is some c that is a concretization of g every c that is a concretization of g specifically denotes r person:Alan Ruttenberg Conversations with Barry Smith, Werner Ceusters, Bjoern Peters, Michel Dumontier, Melanie Courtot, James Malone, Bill Hogan denotes inverse of the relation 'denotes' Person: Jie Zheng, Chris Stoeckert, Mike Conlon denoted by relates a process to a time-measurement-datum that represents the duration of the process Person:Alan Ruttenberg is duration of A shortcut object property that represents a relation between a biological entity and a material entity inside a human patient where the biological entity is susceptible to be differentially regulated in the material entity (e.g., cell or anatomic entity) of a human patient with a specific disease. Oliver He, Edison Ong susceptible to be differentially regulated in human disease A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be differentially regulated in a cell of a chronical kidney disease (CKD) patient. Oliver He, Edison Ong susceptible to be differentially regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of a chronical kidney disease (CKD) patient Oliver He, Edison Ong susceptible to be up-regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of a chronical kidney disease (CKD) patient Oliver He, Edison Ong susceptible to be down-regulated in CKD in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be differentially regulated in a cell in an acute kidney injury (AKI) patient. Oliver He susceptible to be differentially regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be differentially regulated in the anatomic location of a chronical kidney disease (CKD) patient. Oliver He susceptible to be differentially regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be up-regulated in the anatomic location of a chronical kidney disease (CKD) patient. Oliver He susceptible to be up-regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of a chronical kidney disease (CKD) patient. Oliver He susceptible to be down-regulated in CKD in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be differentially regulated in the anatomic location of an acute kidney injury (AKI) patient. Oliver He, Edison Ong susceptible to be differentially regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be up-regulated in a cell of an acute kidney injury (AKI) patient Oliver He, Edison Ong susceptible to be up-regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and a cell where the entity is susceptible to be down-regulated in a cell of an acute kidney injury (AKI) patient Oliver He, Edison Ong susceptible to be down-regulated in AKI in cell A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. Oliver He susceptible to be down-regulated in AKI in anatomic location A shortcut object property that represents a relation between a biological entity and an anatomic location where the entity is susceptible to be down-regulated in the anatomic location of an acute kidney injury (AKI) patient. Oliver He susceptible to be up-regulated in AKI in anatomic location An object property that represents a relation between a gene and a cell type where the gene is the gene marker of the cell type Oliver He, Yingtong Liu is gene marker of cell An object property that represents a relation between a celltype and a gene where the cell has the gene as its gene marker Oliver He, Yingtong Liu cell has gene marker Oliver He, Yingtong Liu An object property that represents a relation between a disease and a biomarker where the disease has the biomarker. disease has biomarker An object property that represents a relation between a disease and a gene where the disease has the gene as a biomarker. Oliver He, Yingtong Liu disease has gene biomarker An object property that represents a relation between a disease and a protein where the disease has the protein as a biomarker. Oliver He, Yingtong Liu disease has protein biomarker An object property that represents a relation between a disease and a RNA where the disease has the mRNA as a biomarker. Oliver He, Yingtong Liu disease has RNA biomarker An object property that represents a relation between a biomarker and a disease where the biomarker serves as a biomarker role for the disease Yingtong Liu, Oliver He biomarker of disease An object property that represents a relation between a gene and a disease where the gene is a biomarkder of the disease. Yingtong Liu, Oliver He gene biomarker of disease An object property that represents a relation between a protein and a disease where the protein is a biomarkder of the disease. Yingtong Liu, Oliver He protein biomarker of disease An object property that represents a relation between a RNA of a gene and a disease where the mRNA expression of the gene is a biomarkder of the disease. Yingtong Liu, Oliver He RNA biomarker of disease biomarker related is biomarker of cell encodes protein An adverse event has a participant quality, such as a hyperkalemia AE has a participatn quality blood potassium increased. an object property that represents a relation between a process and a quality, in which the process has a participant that has the quality. This is a shortcut relation of the following full version: 'has participant' some (participant 'has quality' ) in: process 'has participant' some (participant 'has quality' some quality) Yongqun He has participant quality a 'occurs in' relation that is applied at the adverse event setting and indicates where an adverse event occurs in. Yongqun He adverse event occurs in AE occurs in a specific 'preceded by' object property that has a domain of an adverse event. Yongqun He adverse event preceded by provides_service_consumer_with The provides_service_consumer_with relation links the service to its primary process it provides for the consumer (as opposed to secondary processual parts of a service process such as payment or documentation). For example, a 'DNA sequencing service' provides_service_consumer_with 'DNA sequencing' as the essential process performed by the provider for the client. A relation between a service and the primary processual part of the service that is performed by the provider for the consumer. provides_service_consumer_with is_supported_by_data The relation between the conclusion "Gene tpbA is involved in EPS production" and the data items produced using two sets of organisms, one being a tpbA knockout, the other being tpbA wildtype tested in polysacharide production assays and analyzed using an ANOVA. The relation between a data item and a conclusion where the conclusion is the output of a data interpreting process and the data item is used as an input to that process OBI OBI Philly 2011 workshop is_supported_by_data has_specified_input has_specified_input see is_input_of example_of_usage A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. The inverse property of is_specified_input_of 8/17/09: specified inputs of one process are not necessarily specified inputs of a larger process that it is part of. This is in contrast to how 'has participant' works. PERSON: Alan Ruttenberg PERSON: Bjoern Peters PERSON: Larry Hunter PERSON: Melanie Coutot has_specified_input is_specified_input_of some Autologous EBV(Epstein-Barr virus)-transformed B-LCL (B lymphocyte cell line) is_input_for instance of Chromum Release Assay described at https://wiki.cbil.upenn.edu/obiwiki/index.php/Chromium_Release_assay A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. Alan Ruttenberg PERSON:Bjoern Peters is_specified_input_of has_specified_output has_specified_output A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. The inverse property of is_specified_output_of PERSON: Alan Ruttenberg PERSON: Bjoern Peters PERSON: Larry Hunter PERSON: Melanie Courtot has_specified_output is_manufactured_by http://www.affymetrix.com/products/arrays/specific/hgu133.affx is_manufactered_by http://www.affymetrix.com/ (if we decide to use these URIs for the actual entities) c is_manufactured_by o means that there was a process p in which c was built in which a person, or set of people or machines did the work(bore the "Manufacturer Role", and those people/and or machines were members or of directed by the organization to do this. Alan Ruttenberg Liju Fan has_make has_manufacturer is_manufactured_by is_specified_output_of is_specified_output_of A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. Alan Ruttenberg PERSON:Bjoern Peters is_specified_output_of is_specified_output_of achieves_planned_objective A cell sorting process achieves the objective specification 'material separation objective' This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process. BP, AR, PPPB branch PPPB branch derived modified according to email thread from 1/23/09 in accordince with DT and PPPB branch achieves_planned_objective has grain the relation of the cells in the finger of the skin to the finger, in which an indeterminate number of grains are parts of the whole by virtue of being grains in a collective that is part of the whole, and in which removing one granular part does not nec- essarily damage or diminish the whole. Ontological Whether there is a fixed, or nearly fixed number of parts - e.g. fingers of the hand, chambers of the heart, or wheels of a car - such that there can be a notion of a single one being missing, or whether, by contrast, the number of parts is indeterminate - e.g., cells in the skin of the hand, red cells in blood, or rubber molecules in the tread of the tire of the wheel of the car. Discussion in Karslruhe with, among others, Alan Rector, Stefan Schulz, Marijke Keet, Melanie Courtot, and Alan Ruttenberg. Definition take from the definition of granular parthood in the cited paper. Needs work to put into standard form PERSON: Alan Ruttenberg PAPER: Granularity, scale and collectivity: When size does and does not matter, Alan Rector, Jeremy Rogers, Thomas Bittner, Journal of Biomedical Informatics 39 (2006) 333-349 has grain objective_achieved_by This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process. OBI OBI objective_achieved_by has organization member has value specification A relation between an information content entity and a value specification that specifies its value. PERSON: James A. Overton OBI has value specification a 'part of continuant at some time' relation that incides a genome belongs to a organism. Yongqun He, Bin Zhao is genome of organism a relation between a gene and the organism where this gene belongs to the organism in nature. It does not include a foreign gene that is transferred to an organism by a genetic engineering method. Oliver He, Yue Liu is gene of organism BFO relation takes precedence. We anticipate BFO 2.0 including and defining this relation. When it does, we will obsolete this property and declare it equivalent to the BFO 2.0 relation. is-aggregate-of true A kidney biopsy protocol is executed in a kidney biopsy process. A shortcut relation that is concretized and realized in some process. Jie Zheng, Oliver He executed in A 'has part' object property that has the range of a textual question Oliver He has question form generated by An object property that indicates a relation between a question and an answer has answer to question has answer An object property that represents a relation between a form and a question where the question sets up an exclusion criterion. Specifically, when the answer to the question is Yes, the candidate becomes ineligible for the participation of a study. Fred Dowd, Oliver He has exclusion question An object property that represents a relation between a form and a question where the question sets up an inclusion criterion. Specifically, when the answer to the question is Yes, then the candidate fulfills a criterion for being eligible for participating in a study. Note that there might be other criteria that the candidate also need to meet in order to be fully eligible. Meanwhile, if the answer is No, the candidate may still be eligible depending on the other restriction. Fred Dowd, Oliver He has inclusion question has process quality An object property that represents a relation between a person with a biological sex and a process where the person has a specific susceptbility to a process Anthony Huffman, Oliver He has sex-specific susceptibility to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding male population Anthony Huffman, Oliver He has increased susceptibility compared to male to Male has increased susceptibility to death due to COVID-19 infection compared to female. Note that in this case, the male can mean one single male individual. however, the female here means the whole female population. It is reported that the ratio of deaths in COVID-19 infected males to females is 1·21:1 in high-income countries, but 2·8:1 in low-income countries (Reference: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8023692/). An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to corresponding female population Anthony Huffman, Oliver He has increased susceptibility compared to female to An object property that represents a relation between a person with a biological sex and a process where the person has an increased susceptbility to a process compared to the whole population with all sexes included Anthony Huffman, Oliver He has increased sex-specific susceptibility compared to sex baseline to A care_site has a care_site_id (OMOP: http://ohdsi.github.io/CommonDataModel/cdm54.html#CARE_SITE) An object property that represents a relation between an entity and its corresponding identifier that is owned by the entity. Oliver He, Long Tran has identifier A patient was admitted to the hospital from home or a long-term care facility. An object property that represents a relation between a patient and a site from which the patient was admitted. Long Tran, Oliver He http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE admitted from After a visit, a person was discharged to home or a long-term care site. Typically this applies only to visits that have a length of stay of a day or more. An object property that represents a relation between a patient and a site to which the patient was discharged after a visit. http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE discharged to An admission diagnosis status has the content of adimission diagnosis (as an information content entity). An object property that represents a relation between a status and an information content entity where the status has its content information defined by the information content entity. Oliver He, Long Tran has status content inheres in this fragility inheres in this vase this fragility is a characteristic of this vase this red color inheres in this apple this red color is a characteristic of this apple a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence. a relation between a specifically dependent continuant (the dependent) and an independent continuant (the bearer), in which the dependent specifically depends on the bearer for its existence A dependent inheres in its bearer at all times for which the dependent exists. 'inheres in at all times' inheres_in http://purl.obolibrary.org/obo/ro.owl RO:0000052 inheres_in inheres_in Note that this relation was previously called "inheres in", but was changed to be called "characteristic of" because BFO2 uses "inheres in" in a more restricted fashion. This relation differs from BFO2:inheres_in in two respects: (1) it does not impose a range constraint, and thus it allows qualities of processes, as well as of information entities, whereas BFO2 restricts inheres_in to only apply to independent continuants (2) it is declared functional, i.e. something can only be a characteristic of one thing. characteristic of inheres in inheres in bearer of this apple is bearer of this red color this vase is bearer of this fragility Inverse of characteristic_of a relation between an independent continuant (the bearer) and a specifically dependent continuant (the dependent), in which the dependent specifically depends on the bearer for its existence A bearer can have many dependents, and its dependents can exist for different periods of time, but none of its dependents can exist when the bearer does not exist. bearer of bearer_of is bearer of RO:0000053 external bearer_of bearer_of bearer of bearer of bearer_of has characteristic is bearer of participates in this blood clot participates in this blood coagulation this input material (or this output material) participates in this process this investigator participates in this investigation a relation between a continuant and a process, in which the continuant is somehow involved in the process participates_in RO:0000056 external uberon participates_in participates_in participates in participates in participates_in has participant this blood coagulation has participant this blood clot this investigation has participant this investigator this process has participant this input material (or this output material) a relation between a process and a continuant, in which the continuant is somehow involved in the process Has_participant is a primitive instance-level relation between a process, a continuant, and a time at which the continuant participates in some way in the process. The relation obtains, for example, when this particular process of oxygen exchange across this particular alveolar membrane has_participant this particular sample of hemoglobin at this particular time. has_participant http://purl.obolibrary.org/obo/ro.owl http://www.obofoundry.org/ro/#OBO_REL:has_participant http://www.obofoundry.org/ro/#OBO_REL:has_participant RO:0000057 external has_participant has_participant has participant has participant has_participant concretizes A journal article is an information artifact that inheres in some number of printed journals. For each copy of the printed journal there is some quality that carries the journal article, such as a pattern of ink. The quality (a specifically dependent continuant) concretizes the journal article (a generically dependent continuant), and both depend on that copy of the printed journal (an independent continuant). An investigator reads a protocol and forms a plan to carry out an assay. The plan is a realizable entity (a specifically dependent continuant) that concretizes the protocol (a generically dependent continuant), and both depend on the investigator (an independent continuant). The plan is then realized by the assay (a process). A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant. http://purl.obolibrary.org/obo/obi.owl It is recommended to not use this if possible in OMRSE. According to OntoBee this relation has been obsoleted and replaced with 'concretization of at all times'. As of Dec. 2, 2013 iao-main still uses this relation. concretizes this catalysis function is a function of this enzyme a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence A function inheres in its bearer at all times for which the function exists, however the function need not be realized at all the times that the function exists. function_of is function of function of this investigator role is a role of this person a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence A role inheres in its bearer at all times for which the role exists, however the role need not be realized at all the times that the role exists. is role of role_of role of this enzyme has function this catalysis function (more colloquially: this enzyme has this catalysis function) a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence A bearer can have many functions, and its functions can exist for different periods of time, but none of its functions can exist when the bearer does not exist. A function need not be realized at all the times that the function exists. has_function has function this apple has quality this red color a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence A bearer can have many qualities, and its qualities can exist for different periods of time, but none of its qualities can exist when the bearer does not exist. has_quality RO:0000086 protein uberon has_quality false has_quality has quality has quality has_quality this person has role this investigator role (more colloquially: this person has this role of investigator) a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence A bearer can have many roles, and its roles can exist for different periods of time, but none of its roles can exist when the bearer does not exist. A role need not be realized at all the times that the role exists. has_role has role has role has_role a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence has disposition derives from this cell derives from this parent cell (cell division) this nucleus derives from this parent nucleus (nuclear division) a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops from'. derives_from derives from this parent cell derives into this cell (cell division) this parent nucleus derives into this nucleus (nuclear division) a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops into'. To avoid making statements about a future that may not come to pass, it is often better to use the backward-looking 'derives from' rather than the forward-looking 'derives into'. derives_into derives into is location of my head is the location of my brain this cage is the location of this rat a relation between two independent continuants, the location and the target, in which the target is entirely within the location Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/ Most location relations will only hold at certain times, but this is difficult to specify in OWL. See https://code.google.com/p/obo-relations/wiki/ROAndTime location_of RO:0001015 uberon location_of location_of location of location of location_of located in my brain is located in my head this rat is located in this cage a relation between two independent continuants, the target and the location, in which the target is entirely within the location Location as a relation between instances: The primitive instance-level relation c located_in r at t reflects the fact that each continuant is at any given time associated with exactly one spatial region, namely its exact location. Following we can use this relation to define a further instance-level location relation - not between a continuant and the region which it exactly occupies, but rather between one continuant and another. c is located in c1, in this sense, whenever the spatial region occupied by c is part_of the spatial region occupied by c1. Note that this relation comprehends both the relation of exact location between one continuant and another which obtains when r and r1 are identical (for example, when a portion of fluid exactly fills a cavity), as well as those sorts of inexact location relations which obtain, for example, between brain and head or between ovum and uterus Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/ Most location relations will only hold at certain times, but this is difficult to specify in OWL. See https://code.google.com/p/obo-relations/wiki/ROAndTime located_in http://www.obofoundry.org/ro/#OBO_REL:located_in http://www.obofoundry.org/ro/#OBO_REL:located_in RO:0001025 file:/Users/michaelashburner/Desktop/gaz/gaz.oboInOwl uberon located_in located_in located in located in located_in located_in (type level) https://wiki.geneontology.org/Located_in my body has 2D boundary the surface of my skin a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts. Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape. has boundary has_2D_boundary RO:0002002 uberon has_boundary has_boundary has 2D boundary has 2D boundary has boundary http://www.ncbi.nlm.nih.gov/pubmed/22402613 RO:0002005 uberon innervated_by innervated_by innervated_by innervated_by X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 RO:0002007 external uberon bounding_layer_of bounding_layer_of A relationship that applies between a continuant and its outer, bounding layer. Examples include the relationship between a multicellular organism and its integument, between an animal cell and its plasma membrane, and between a membrane bound organelle and its outer/bounding membrane. A relationship that applies between a continuant and its outer, bounding layer. Examples include the relationship between a multicellular organism and its integument, between an animal cell and its plasma membrane, and between a membrane bound organelle and its outer/bounding membrane. bounding layer of bounding layer of 2017-05-24T09:44:33Z A 'has component activity' B if A is A and B are molecular functions (GO_0003674) and A has_component B. has component activity w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. 2017-05-24T09:49:21Z has component process A relationship between a process and a barrier, where the process occurs in a region spanning the barrier. For cellular processes the barrier is typically a membrane. Examples include transport across a membrane and membrane depolarization. 2017-07-20T17:19:37Z occurs across A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. 2017-09-22T14:14:36Z This relation is designed for constructing compound molecular functions, typically in combination with one or more regulatory component activity relations. has effector activity David Osumi-Sutherland <= Primitive instance level timing relation between events before or simultaneous with Relation between occurrents, shares start and end boundaries. x simultaneous with y iff ω(x) = ω(y) and ω(α ) = ω(α), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point and '=' indicates the same instance in time. David Osumi-Sutherland RO:0002082 coincides_with is_equal_to uberon simultaneous_with simultaneous_with t1 simultaneous_with t2 iff:= t1 before_or_simultaneous_with t2 and not (t1 before t2) simultaneous with simultaneous with simultaneous_with David Osumi-Sutherland X ends_after Y iff: end(Y) before_or_simultaneous_with end(X) ends after X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) David Osumi-Sutherland starts_at_end_of A non-transitive temporal relation in which one process immediately precedes another process, such that there is no interval of time between the two processes[SIO:000251]. RO:0002087 directly preceded by is directly preceded by is immediately preceded by starts_at_end_of external uberon immediately_preceded_by immediately_preceded_by X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) immediately preceded by immediately preceded by immediately_preceded_by David Osumi-Sutherland ends_at_start_of meets RO:0002090 external immediately_precedes immediately_precedes X immediately_precedes_Y iff: end(X) simultaneous_with start(Y) immediately precedes immediately precedes David Osumi-Sutherland io X starts_during Y iff: (start(Y) before_or_simultaneous_with start(X)) AND (start(X) before_or_simultaneous_with end(Y)) starts during David Osumi-Sutherland d during X happens_during Y iff: (start(Y) before_or_simultaneous_with start(X)) AND (end(X) before_or_simultaneous_with end(Y)) happens during David Osumi-Sutherland o overlaps X ends_during Y iff: ((start(Y) before_or_simultaneous_with end(X)) AND end(X) before_or_simultaneous_with end(Y). ends during ends_during Relation between a neuron and a material anatomical entity that its soma is part of. <http://purl.obolibrary.org/obo/BFO_0000051> some ( <http://purl.obolibrary.org/obo/GO_0043025> and <http://purl.obolibrary.org/obo/BFO_0000050> some ?Y) has soma location Every B cell[CL_0000236] has plasma membrane part some immunoglobulin complex[GO_0019814] Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. <http://purl.obolibrary.org/obo/BFO_0000051> some (<http://purl.obolibrary.org/obo/GO_0005886> and <http://purl.obolibrary.org/obo/BFO_0000051> some ?Y) has plasma membrane part A general relation between a neuron and some structure in which it either chemically synapses to some target or in which it receives (chemical) synaptic input. has synapse in <http://purl.obolibrary.org/obo/RO_0002131> some (<http://purl.obolibrary.org/obo/GO_0045202> that <http://purl.obolibrary.org/obo/BFO_0000050> some Y?) has synaptic terminal in A overlaps B if they share some part in common. x overlaps y if and only if there exists some z such that x has part z and z part of y http://purl.obolibrary.org/obo/BFO_0000051 some (http://purl.obolibrary.org/obo/BFO_0000050 some ?Y) RO:0002131 external uberon overlaps overlaps overlaps overlaps Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. <http://purl.obolibrary.org/obo/RO_0002132> some (<http://purl.obolibrary.org/obo/GO_0043005> that (<http://purl.obolibrary.org/obo/RO_0002131> some (<http://purl.obolibrary.org/obo/GO_0045202> that <http://purl.obolibrary.org/obo/BFO_0000050> some Y?))) RO:0002134 uberon innervates innervates innervates innervates X continuous_with Y if and only if X and Y share a fiat boundary. connected to The label for this relation was previously connected to. I relabeled this to "continuous with". The standard notion of connectedness does not imply shared boundaries - e.g. Glasgow connected_to Edinburgh via M8; my patella connected_to my femur (via patellar-femoral joint) RO:0002150 uberon continuous_with continuous_with continuous with continuous with continuous_with FMA:85972 lactation SubClassOf 'only in taxon' some 'Mammalia' U only_in_taxon T: U is a feature found in only in organisms of species of taxon T. The feature cannot be found in an organism of any species outside of (not subsumed by) that taxon. Down-propagates in U hierarchy, up-propagates in T hierarchy (species taxonomy). Implies applicable_to_taxon. x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. The original intent was to treat this as a macro that expands to 'in taxon' only ?Y - however, this is not necessary if we instead have supplemental axioms that state that each pair of sibling tax have a disjointness axiom using the 'in taxon' property - e.g. 'in taxon' some Eukaryota DisjointWith 'in taxon' some Eubacteria RO:0002160 never_outside_taxon specific_to specific_to_taxon protein uberon only_in_taxon false only_in_taxon Down-propagates. The original name for this in the paper is 'specific_to'. Applicable to genes because some genes are lost in sub-species (strains) of a species. only in taxon only_in_taxon x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. RO:0002162 uberon in_taxon in_taxon Connects a biological entity to its taxon of origin. in taxon A is spatially_disjoint_from B if and only if they have no parts in common There are two ways to encode this as a shortcut relation. The other possibility to use an annotation assertion between two classes, and expand this to a disjointness axiom. Chris Mungall Note that it would be possible to use the relation to label the relationship between a near infinite number of structures - between the rings of saturn and my left earlobe. The intent is that this is used for parsiomoniously for disambiguation purposes - for example, between siblings in a jointly exhaustive pairwise disjointness hierarchy BFO_0000051 exactly 0 (BFO_0000050 some ?Y) spatially disjoint from https://github.com/obophenotype/uberon/wiki/Part-disjointness-Design-Pattern https://github.com/obophenotype/uberon/wiki/Part-disjointness-Design-Pattern a 'toe distal phalanx bone' that is connected to a 'toe medial phalanx bone' (an interphalangeal joint *connects* these two bones). Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship. a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b RO:0002170 uberon connected_to connected_to connected to connected to https://github.com/obophenotype/uberon/wiki/Connectivity-Design-Pattern https://github.com/obophenotype/uberon/wiki/Modeling-articulations-Design-Pattern The M8 connects Glasgow and Edinburgh a 'toe distal phalanx bone' that is connected to a 'toe medial phalanx bone' (an interphalangeal joint *connects* these two bones). Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship. c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system. this is currently used for both structural relationships (such as between a valve and the chamber it connects) and abstract relationships (anatomical lines and the entities they connect) RO:0002176 uberon connects connects connects connects https://github.com/obophenotype/uberon/wiki/Connectivity-Design-Pattern https://github.com/obophenotype/uberon/wiki/Modeling-articulations-Design-Pattern a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. attached to part of (anatomical structure to anatomical structure) RO:0002177 uberon attaches_to_part_of attaches_to_part_of attached to part of attached to part of attaches_to_part_of Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy. relation between an artery and the structure is supplies with blood. Individual ontologies should provide their own constraints on this abstract relation. For example, in the realm of anatomy this should hold between an artery and an anatomical structure RO:0002178 arterial supply of uberon supplies supplies supplies supplies Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. Individual ontologies should provide their own constraints on this abstract relation. For example, in the realm of anatomy this should hold between a vein and an anatomical structure RO:0002179 drains blood from drains from uberon drains drains drains drains w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. The definition of 'has component' is still under discussion. The challenge is in providing a definition that does not imply transitivity. For use in recording has_part with a cardinality constraint, because OWL does not permit cardinality constraints to be used in combination with transitive object properties. In situations where you would want to say something like 'has part exactly 5 digit, you would instead use has_component exactly 5 digit. RO:0002180 external protein uberon has_component false has_component has component has component has_component A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). has phenotype inverse of has phenotype phenotype of x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y RO:0002202 uberon develops_from develops_from This is the transitive form of the develops from relation develops from develops from develops_from inverse of develops from RO:0002203 uberon develops_into develops_into develops into develops into develops_into 'neural crest cell' SubClassOf expresses some 'Wnt1 gene' x expressed in y if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and the transcription of x is part of the gene expression process (iii) x is a mature gene product such as a protein, and x was translated or otherwise processes from a transcript that was transcribed as part of this gene expression process expressed in Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. FBbt RO:0002207 has developmental precursor uberon directly_develops_from directly_develops_from TODO - add child relations from DOS directly develops from directly develops from directly_develops_from inverse of directly develops from developmental precursor of directly develops into p regulates q iff p is causally upstream of q, the execution of p is not constant and varies according to specific conditions, and p influences the rate or magnitude of execution of q due to an effect either on some enabler of q or some enabler of a part of q. process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2. We use 'regulates' here to specifically imply control. However, many colloquial usages of the term correctly correspond to the weaker relation of 'causally upstream of or within' (aka influences). Consider relabeling to make things more explicit Chris Mungall David Hill Tanya Berardini GO Regulation precludes parthood; the regulatory process may not be within the regulated process. regulates (processual) false RO:0002211 external regulates regulates has_component regulates regulates regulates (processual) Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2. p negatively regulates q iff p regulates q, and p decreases the rate or magnitude of execution of q. negatively regulates (process to process) RO:0002212 external negatively_regulates negatively_regulates negatively regulates negatively regulates Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2. p positively regulates q iff p regulates q, and p increases the rate or magnitude of execution of q. positively regulates (process to process) RO:0002213 external positively_regulates positively_regulates positively regulates positively regulates mechanosensory neuron capable of detection of mechanical stimulus involved in sensory perception (GO:0050974) osteoclast SubClassOf 'capable of' some 'bone resorption' A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. Chris Mungall has function realized in For compatibility with BFO, this relation has a shortcut definition in which the expression "capable of some P" expands to "bearer_of (some realized_by only P)". RO_0000053 some (RO_0000054 only ?Y) RO:0002215 external protein uberon capable_of false capable_of capable of capable of capable_of c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. Chris Mungall has function in RO_0000053 some (RO_0000054 only (BFO_0000050 some ?Y)) RO:0002216 external uberon capable_of_part_of capable_of_part_of capable of part of capable of part of 'heart development' has active participant some Shh protein x has participant y if and only if x realizes some active role that inheres in y This may be obsoleted and replaced by the original 'has agent' relation Chris Mungall has agent has active participant x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y Chris Mungall RO:0002219 uberon surrounded_by surrounded_by surrounded by surrounded by surrounded_by A caterpillar walking on the surface of a leaf is adjacent_to the leaf, if one of the caterpillar appendages is touching the leaf. In contrast, a butterfly flying close to a flower is not considered adjacent, unless there are any touching parts. The epidermis layer of a vertebrate is adjacent to the dermis. The plasma membrane of a cell is adjacent to the cytoplasm, and also to the cell lumen which the cytoplasm occupies. The skin of the forelimb is adjacent to the skin of the torso if these are considered anatomical subdivisions with a defined border. Otherwise a relation such as continuous_with would be used. x adjacent to y if and only if x and y share a boundary. x adjacent_to y iff: x and y share a boundary This relation acts as a join point with BSPO Chris Mungall RO:0002220 external uberon adjacent_to adjacent_to adjacent to adjacent to adjacent_to inverse of surrounded by inverse of surrounded_by Chris Mungall RO:0002221 uberon surrounds surrounds surrounds surrounds Chris Mungall Do not use this relation directly. It is ended as a grouping for relations between occurrents involving the relative timing of their starts and ends. https://docs.google.com/document/d/1kBv1ep_9g3sTR-SD3jqzFqhuwo9TPNF-l-9fUDbO6rM/edit?pli=1 https://docs.google.com/document/d/1kBv1ep_9g3sTR-SD3jqzFqhuwo9TPNF-l-9fUDbO6rM/edit?pli=1 A relation that holds between two occurrents. This is a grouping relation that collects together all the Allen relations. temporally related to Relation between occurrents, shares a start boundary with. inverse of starts with Chris Mungall Allen RO:0002223 uberon starts starts starts starts Every insulin receptor signaling pathway starts with the binding of a ligand to the insulin receptor x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. Chris Mungall started by RO:0002224 external uberon starts_with starts_with starts with starts with x develops from part of y if and only if there exists some z such that x develops from z and z is part of y RO:0002225 uberon develops_from_part_of develops_from_part_of develops from part of develops from part of develops_from_part_of Relation between occurrents, shares an end boundary with. inverse of ends with Chris Mungall RO:0002229 finishes uberon ends ends ends ends x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. Chris Mungall finished by RO:0002230 external uberon ends_with ends_with ends with ends with x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y starts with process that occurs in RO:0002231 external has_start_location has_start_location has start location has start location x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y ends with process that occurs in RO:0002232 external has_end_location has_end_location has end location has end location p has direct input c iff c is a participant in p, c is present at the start of p, and the state of c is modified during p. p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. Chris Mungall consumes RO:0002233 external has_input has_input has input has input https://wiki.geneontology.org/Has_input p has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p. p has output c iff c is a participant in p, c is present at the end of p, and c is not present in the same state at the beginning of p. Chris Mungall produces RO:0002234 external has_output has_output has output has output https://wiki.geneontology.org/Has_output Any relationship between an exposure event or process and any other entity. related via exposure to In the tree T depicted in https://oborel.github.io/obo-relations/branching_part_of.png, B1 is connecting branch of S, and B1-1 as a connecting branch of B1. b connecting-branch-of s iff b is connected to s, and there exists some tree-like structure t such that the mereological sum of b plus s is either the same as t or a branching-part-of t. RO:0002252 uberon connecting_branch_of connecting_branch_of connecting branch of inverse of connecting branch of has connecting branch Mammalian thymus has developmental contribution from some pharyngeal pouch 3; Mammalian thymus has developmental contribution from some pharyngeal pouch 4 [Kardong] x has developmental contribution from y iff x has some part z such that z develops from y RO:0002254 uberon has_developmental_contribution_from has_developmental_contribution_from has developmental contribution from has developmental contribution from inverse of has developmental contribution from developmentally contributes to developmentally_contributes_to t1 developmentally_induced_by t2 if there is a process of organ induction (GO:0001759) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor tissue type T to T', where T' develops_from T. t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor anatomical structure type T to T', where T' develops_from T t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor material anatomical entity type T to T', where T' develops_from T induced by Developmental Biology, Gilbert, 8th edition, figure 6.5(F) GO:0001759 We place this under 'developmentally preceded by'. This placement should be examined in the context of reciprocal inductions[cjm] RO:0002256 uberon developmentally_induced_by developmentally_induced_by sources for developmentally_induced_by relationships in Uberon: Developmental Biology, Gilbert, 8th edition, figure 6.5(F) developmentally induced by developmentally induced by developmentally_induced_by Inverse of developmentally induced by developmentally induces Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p false In general you should not use this relation to make assertions - use one of the more specific relations below this one RO:0002258 uberon developmentally_preceded_by developmentally_preceded_by This relation groups together various other developmental relations. It is fairly generic, encompassing induction, developmental contribution and direct and transitive develops from developmentally preceded by developmentally preceded by x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else This relation is intended for cases such as when we have a bone element replacing its cartilage element precursor. Currently most AOs represent this using 'develops from'. We need to decide whether 'develops from' will be generic and encompass replacement, or whether we need a new name for a generic relation that encompasses replacement and development-via-cell-lineage replaces RO:0002285 uberon developmentally_replaces developmentally_replaces developmentally replaces developmentally replaces developmentally_replaces Inverse of developmentally preceded by developmentally succeeded by y expresses x if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and x was transcribed from a gene as part of the gene expression process (iii) x is a mature gene product (protein or RNA), and x was translated or otherwise processed from a transcript that was transcribed as part of the gene expression process. expresses p results in the developmental progression of s iff p is a developmental process and s is an anatomical entity and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). This property and its subproperties are being used primarily for the definition of GO developmental processes. The property hierarchy mirrors the core GO hierarchy. In future we may be able to make do with a more minimal set of properties, but due to the way GO is currently structured we require highly specific relations to avoid incorrect entailments. To avoid this, the corresponding genus terms in GO should be declared mutually disjoint. RO:0002295 external results_in_developmental_progression_of results_in_developmental_progression_of results in developmental progression of results in developmental progression of every flower development (GO:0009908) results in development of some flower (PO:0009046) p 'results in development of' c if and only if p is a developmental process and p results in the state of c changing from its initial state as a primordium or anlage through its mature state and to its final state. http://www.geneontology.org/GO.doc.development.shtml RO:0002296 external results_in_development_of results_in_development_of results in development of results in development of an annotation of gene X to anatomical structure formation with results_in_formation_of UBERON:0000007 (pituitary gland) means that at the beginning of the process a pituitary gland does not exist and at the end of the process a pituitary gland exists. every "endocardial cushion formation" (GO:0003272) results_in_formation_of some "endocardial cushion" (UBERON:0002062) GOC:mtg_berkeley_2013 RO:0002297 external results_in_formation_of results_in_formation_of results in formation of results in formation of an annotation of gene X to cell morphogenesis with results_in_morphogenesis_of CL:0000540 (neuron) means that at the end of the process an input neuron has attained its shape. tongue morphogenesis (GO:0043587) results in morphogenesis of tongue (UBERON:0001723) The relationship that links an entity with the process that results in the formation and shaping of that entity over time from an immature to a mature state. GOC:mtg_berkeley_2013 RO:0002298 external results_in_morphogenesis_of results_in_morphogenesis_of results in morphogenesis of results in morphogenesis of p is causally upstream of, positive effect q iff p is casually upstream of q, and the execution of p is required for the execution of q. RO:0002304 external causally_upstream_of,_positive_effect causally_upstream_of,_positive_effect holds between x and y if and only if x is causally upstream of y and the progression of x increases the frequency, rate or extent of y causally upstream of, positive effect p is causally upstream of, negative effect q iff p is casually upstream of q, and the execution of p decreases the execution of q. RO:0002305 external causally_upstream_of,_negative_effect causally_upstream_of,_negative_effect causally upstream of, negative effect A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. has exposure stimulus q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w. q inheres in part of w if and only if there exists some p such that q inheres in p and p part of w. Because part_of is transitive, inheres in is a sub-relation of inheres in part of Chris Mungall RO:0002314 inheres_in_part_of inheres_in_part_of characteristic of part of inheres in part of inheres in part of an annotation of gene X to cell differentiation with results_in_maturation_of CL:0000057 (fibroblast) means that at the end of the process the input cell that did not have features of a fibroblast, now has the features of a fibroblast. The relationship that links a specified entity with the process that results in an unspecified entity acquiring the features and characteristics of the specified entity GOC:mtg_berkeley_2013 RO:0002315 external results_in_acquisition_of_features_of results_in_acquisition_of_features_of results in acquisition of features of results in acquisition of features of A relationship that holds via some environmental process Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving the process of evolution. evolutionarily related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) ecologically related to A mereological relationship or a topological relationship Chris Mungall Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving parthood or connectivity relationships mereotopologically related to A relationship that holds between entities participating in some developmental process (GO:0032502) Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving organismal development developmentally related to a particular instances of akt-2 enables some instance of protein kinase activity Chris Mungall catalyzes executes has is catalyzing is executing This relation differs from the parent relation 'capable of' in that the parent is weaker and only expresses a capability that may not be actually realized, whereas this relation is always realized. This relation is currently used experimentally by the Gene Ontology Consortium. It may not be stable and may be obsoleted at some future time. enables A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. Chris Mungall This is a grouping relation that collects relations used for the purpose of connecting structure and function RO:0002328 uberon functionally_related_to functionally_related_to functionally related to functionally related to holds between two entities when some genome-level process such as gene expression is involved. This includes transcriptional, spliceosomal events. These relations can be used between either macromolecule entities (such as regions of nucleic acid) or between their abstract informational counterparts. Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving the genome of an organism genomically related to every cellular sphingolipid homeostasis process regulates_level_of some sphingolipid p regulates levels of c if p regulates some amount (PATO:0000070) of c regulates levels of (process to entity) RO:0002332 external regulates_levels_of regulates_levels_of regulates levels of regulates levels of inverse of enables Chris Mungall enabled by inverse of regulates Chris Mungall regulated by (processual) RO:0002334 external regulated_by regulated_by regulated by regulated by inverse of negatively regulates RO:0002335 external negatively_regulated_by negatively_regulated_by negatively regulated by negatively regulated by inverse of positively regulates RO:0002336 external positively_regulated_by positively_regulated_by positively regulated by positively regulated by A relationship that holds via some process of localization Do not use this relation directly. It is a grouping relation. related via localization to This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from some initial location l to some destination. RO:0002338 external has_target_start_location has_target_start_location has target start location has target start location This relationship holds between p and l when p is a transport or localization process in which the outcome is to move some cargo c from a an initial location to some destination l. RO:0002339 external has_target_end_location has_target_end_location has target end location has target end location Holds between p and l when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that is aligned_with l RO:0002341 external results_in_transport_along results_in_transport_along results in transport along results in transport along Holds between p and m when p is a transportation or localization process and the outcome of this process is to move c from one location to another, and the route taken by c follows a path that crosses m. RO:0002342 external results_in_transport_across results_in_transport_across results in transport across results in transport across 'mitochondrial transport' results_in_transport_to_from_or_in some mitochondrion (GO:0005739) RO:0002344 external results_in_transport_to_from_or_in results_in_transport_to_from_or_in results in transport to from or in results in transport to from or in An organism that is a member of a population of organisms is member of is a mereological relation between a item and a collection. is member of member part of SIO member of has member is a mereological relation between a collection and an item. SIO RO:0002351 uberon has_member has_member has member has member inverse of has input Chris Mungall RO:0002352 uberon input_of input_of input of input of inverse of has output Chris Mungall RO:0002353 external protein uberon output_of false output_of output of output of output_of Chris Mungall formed as result of a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a attached to (anatomical structure to anatomical structure) RO:0002371 uberon attaches_to attaches_to attached to attached to attaches_to A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving branching relationships This relation can be used for geographic features (e.g. rivers) as well as anatomical structures (plant branches and roots, leaf veins, animal veins, arteries, nerves) in branching relationship with https://github.com/obophenotype/uberon/issues/170 Deschutes River tributary_of Columbia River inferior epigastric vein tributary_of external iliac vein x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. drains into drains to tributary channel of http://en.wikipedia.org/wiki/Tributary http://www.medindia.net/glossary/venous_tributary.htm This relation can be used for geographic features (e.g. rivers) as well as anatomical structures (veins, arteries) RO:0002376 uberon tributary_of tributary_of tributary of tributary of http://en.wikipedia.org/wiki/Tributary In the tree T depicted in https://oborel.github.io/obo-relations/branching_part_of.png, B1 is a (direct) branching part of T. B1-1, B1-2, and B1-3 are also branching parts of T, but these are considered indirect branching parts as they do not directly connect to the main stem S x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y RO:0002380 uberon branching_part_of branching_part_of branching part of branching part of branching_part_of FMA:85994 x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). has developmental potential involving x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y RO:0002385 uberon has_potential_to_developmentally_contribute_to has_potential_to_developmentally_contribute_to has potential to developmentally contribute to has potential to developmentally contribute to x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y has potential to developmentally induce x has the potential to develop into y iff x develops into y or if x is capable of developing into y x has the potential to develop into y iff x develops into y or if x is capable of developing into y RO:0002387 uberon has_potential_to_develop_into has_potential_to_develop_into has potential to develop into has potential to develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y has potential to directly develop into This relation groups causal relations between material entities and causal relations between processes relation that links two events, processes, states, or objects such that one event, process, state, or object (a cause) contributes to the production of another event, process, state, or object (an effect) where the cause is partly or wholly responsible for the effect, and the effect is partly or wholly dependent on the cause. This branch of the ontology deals with causal relations between entities. It is divided into two branches: causal relations between occurrents/processes, and causal relations between material entities. We take an 'activity flow-centric approach', with the former as primary, and define causal relations between material entities in terms of causal relations between occurrents. To define causal relations in an activity-flow type network, we make use of 3 primitives: * Temporal: how do the intervals of the two occurrents relate? * Is the causal relation regulatory? * Is the influence positive or negative The first of these can be formalized in terms of the Allen Interval Algebra. Informally, the 3 bins we care about are 'direct', 'indirect' or overlapping. Note that all causal relations should be classified under a RO temporal relation (see the branch under 'temporally related to'). Note that all causal relations are temporal, but not all temporal relations are causal. Two occurrents can be related in time without being causally connected. We take causal influence to be primitive, elucidated as being such that has the upstream changed, some qualities of the donwstream would necessarily be modified. For the second, we consider a relationship to be regulatory if the system in which the activities occur is capable of altering the relationship to achieve some objective. This could include changing the rate of production of a molecule. For the third, we consider the effect of the upstream process on the output(s) of the downstream process. If the level of output is increased, or the rate of production of the output is increased, then the direction is increased. Direction can be positive, negative or neutral or capable of either direction. Two positives in succession yield a positive, two negatives in succession yield a positive, otherwise the default assumption is that the net effect is canceled and the influence is neutral. Each of these 3 primitives can be composed to yield a cross-product of different relation types. This branch of the ontology deals with causal relations between entities. It is divided into two branches: causal relations between occurrents/processes, and causal relations between material entities. We take an 'activity flow-centric approach', with the former as primary, and define causal relations between material entities in terms of causal relations between occurrents. To define causal relations in an activity-flow type network, we make use of 3 primitives: * Temporal: how do the intervals of the two occurrents relate? * Is the causal relation regulatory? * Is the influence positive or negative? The first of these can be formalized in terms of the Allen Interval Algebra. Informally, the 3 bins we care about are 'direct', 'indirect' or overlapping. Note that all causal relations should be classified under a RO temporal relation (see the branch under 'temporally related to'). Note that all causal relations are temporal, but not all temporal relations are causal. Two occurrents can be related in time without being causally connected. We take causal influence to be primitive, elucidated as being such that has the upstream changed, some qualities of the donwstream would necessarily be modified. For the second, we consider a relationship to be regulatory if the system in which the activities occur is capable of altering the relationship to achieve some objective. This could include changing the rate of production of a molecule. For the third, we consider the effect of the upstream process on the output(s) of the downstream process. If the level of output is increased, or the rate of production of the output is increased, then the direction is increased. Direction can be positive, negative or neutral or capable of either direction. Two positives in succession yield a positive, two negatives in succession yield a positive, otherwise the default assumption is that the net effect is canceled and the influence is neutral. Each of these 3 primitives can be composed to yield a cross-product of different relation types. Chris Mungall Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect. causally related to p is causally upstream of q if and only if p precedes q and p and q are linked in a causal chain p is causally upstream of q iff p is causally related to q, the end of p precedes the end of q, and p is not an occurrent part of q. Chris Mungall RO:0002411 external causally_upstream_of causally_upstream_of causally upstream of causally upstream of p is immediately causally upstream of q iff both (a) p immediately precedes q and (b) p is causally upstream of q. In addition, the output of p must be an input of q. p is immediately causally upstream of q iff p is causally upstream of q, and the end of p is coincident with the beginning of q. Chris Mungall RO:0002412 external immediately_causally_upstream_of immediately_causally_upstream_of immediately causally upstream of immediately causally upstream of p 'causally upstream or within' q iff (1) the end of p is before the end of q and (2) the execution of p exerts some causal influence over the outputs of q; i.e. if p was abolished or the outputs of p were to be modified, this would necessarily affect q. p is 'causally upstream or within' q iff p is causally related to q, and the end of p precedes, or is coincident with, the end of q. We would like to make this disjoint with 'preceded by', but this is prohibited in OWL2 Chris Mungall influences (processual) RO:0002418 external affects causally_upstream_of_or_within causally_upstream_of_or_within causally upstream of or within inverse of causally upstream of or within Chris Mungall RO:0002427 external causally_downstream_of_or_within causally_downstream_of_or_within causally downstream of or within p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. RO:0002433 uberon contributes_to_morphology_of contributes_to_morphology_of contributes to morphology of A relationship that holds between a disease and organism RO:0002451 transmitted_by transmitted_by transmitted by 'otolith organ' SubClassOf 'composed primarily of' some 'calcium carbonate' x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y. x composed_primarily_of y iff: more than half of the mass of x is made from parts of y Chris Mungall UBREL:0000002 RO:0002473 uberon composed_primarily_of composed_primarily_of composed primarily of p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. has part that occurs in Do not use this relation directly. It is ended as a grouping for a diverse set of relations, typically connecting an anatomical entity to a biological process or developmental stage. relation between physical entity and a process or stage Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. x existence starts during y if and only if the time point at which x starts is after or equivalent to the time point at which y starts and before or equivalent to the time point at which y ends. Formally: x existence starts during y iff α(x) >= α(y) & α(x) <= ω(y). BFO:0000068 RO:0002488 begins_to_exist_during uberon existence_starts_during existence_starts_during existence starts during Relation between continuant and occurrent, such that c comes into existence at the start of p. x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y). RO:0002489 uberon existence_starts_with existence_starts_with existence starts with x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription. existence overlaps x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) RO:0002491 exists during uberon existence_starts_and_ends_during existence_starts_and_ends_during The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription. existence starts and ends during Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely. x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y). BFO:0000069 RO:0002492 ceases_to_exist_during uberon existence_ends_during existence_ends_during The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription. existence ends during Relation between continuant and occurrent, such that c ceases to exist at the end of p. x existence ends with y if and only if the time point at which x ends is equivalent to the time point at which y ends. Formally: x existence ends with y iff ω(x) = ω(y). RO:0002493 uberon existence_ends_with existence_ends_with The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription. existence ends with x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships RO:0002494 transforms from uberon transformation_of transformation_of transformation of x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t RO:0002495 direct_transformation_of immediately transforms from uberon immediate_transformation_of immediate_transformation_of immediate transformation of x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). RO:0002496 uberon existence_starts_during_or_after existence_starts_during_or_after The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription. existence starts during or after x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. RO:0002497 uberon existence_ends_during_or_before existence_ends_during_or_before The relations here were created based on work originally by Fabian Neuhaus and David Osumi-Sutherland. The work has not yet been vetted and errors in definitions may have occurred during transcription. existence ends during or before A relationship between a material entity and a process where the material entity has some causal role that influences the process causal agent in causal agent in process p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one of direct activation or direct inhibition. p may be upstream, downstream, part of or a container of q. p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one where the execution of p influences the execution of q. p may be upstream, downstream, part of, or a container of q. Chris Mungall Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect. causal relation between processes Chris Mungall depends on q towards e2 if and only if q is a relational quality such that q inheres-in some e, and e != e2 and q is dependent on e2 RO:0002503 towards towards towards The intent is that the process branch of the causal property hierarchy is primary (causal relations hold between occurrents/processes), and that the material branch is defined in terms of the process branch Chris Mungall Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect. causal relation between material entities A coral reef environment is determined by a particular coral reef s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. The label for this relation is probably too general for its restricted use, where the domain is a system. It may be relabeled in future Chris Mungall determined by (system to material entity) Chris Mungall Pier Buttigieg RO:0002507 uberon has_material_contribution_from has_material_contribution_from determined by has material contribution from inverse of determined by Chris Mungall determines (material entity to system) determines s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. Chris Mungall determined by part of Forelimb SubClassOf has_skeleton some 'Forelimb skeleton' A relation between a segment or subdivision of an organism and the maximal subdivision of material entities that provides structural support for that segment or subdivision. A relation between a subdivision of an organism and the single subdivision of skeleton that provides structural support for that subdivision. has supporting framework The skeleton of a structure may be a true skeleton (for example, the bony skeleton of a hand) or any kind of support framework (the hydrostatic skeleton of a sea star, the exoskeleton of an insect, the cytoskeleton of a cell). RO:0002551 uberon has sekeletal support has supporting framework has_skeleton has_skeleton has skeleton Chris Mungall causally influenced by (material entity to material entity) causally influenced by Holds between p and c when p is locomotion process and the outcome of this process is the change of location of c RO:0002565 external results_in_movement_of results_in_movement_of results in movement of Holds between materal entities a and b if the activity of a is causally upstream of the activity of b, or causally upstream of a an activity that modifies b Chris Mungall causally influences (material entity to material entity) causally influences A relation that holds between elements of a musculoskeletal system or its analogs. Do not use this relation directly. It is ended as a grouping for a diverse set of relations, all involving the biomechanical processes. biomechanically related to inverse of branching part of RO:0002569 uberon has_branching_part has_branching_part has branching part x is a conduit for y iff y overlaps through the lumen_of of x, and y has parts on either side of the lumen of x. UBERON:cjm This relation holds between a thing with a 'conduit' (e.g. a bone foramen) and a 'conduee' (for example, a nerve) such that at the time the relationship holds, the conduee has two ends sticking out either end of the conduit. It should therefore note be used for objects that move through the conduit but whose spatial extent does not span the passage. For example, it would not be used for a mountain that contains a long tunnel through which trains pass. Nor would we use it for a digestive tract and objects such as food that pass through. RO:0002570 uberon conduit_for conduit_for conduit for x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. RO:0002571 uberon lumen_of lumen_of lumen of s is luminal space of x iff s is lumen_of x and s is an immaterial entity RO:0002572 uberon luminal_space_of luminal_space_of luminal space of A relation that holds between an attribute or a qualifier and another attribute. RO:0002180 RO:0002573 has_modifier qualifier has_modifier qualifier placeholder relation to indicate normality/abnormality. has modifier inverse of has skeleton RO:0002576 uberon skeleton_of skeleton_of skeleton of Process(P1) directly regulates process(P2) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding regulates the kinase activity (P2) of protein B then P1 directly regulates P2. p directly regulates q iff p is immediately causally upstream of q and p regulates q. Chris Mungall directly regulates (processual) RO:0002578 external directly_regulates directly_regulates directly regulates p results in breakdown of c if and only if the execution of p leads to c no longer being present at the end of p results in breakdown of RO:0002588 external results_in_assembly_of results_in_assembly_of results in assembly of RO:0002590 external results_in_disassembly_of results_in_disassembly_of results in disassembly of p results in organization of c iff p results in the assembly, arrangement of constituent parts, or disassembly of c RO:0002592 external results_in_organization_of results_in_organization_of results in organization of A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect. Chris Mungall causal relation between material entity and a process Inverse of 'causal agent in process' Inverse of 'causal agent in' RO:0002608 external process_has_causal_agent process_has_causal_agent has causal agent process has causal agent A relationship that holds between two entities, where the relationship holds based on the presence or absence of statistical dependence relationship. The entities may be statistical variables, or they may be other kinds of entities such as diseases, chemical entities or processes. Do not use this relation directly. It is intended as a grouping for a diverse set of relations, all involving cause and effect. related via dependence to a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. RO:0003000 external uberon produces produces Note that this definition doesn't quite distinguish the output of a transformation process from a production process, which is related to the identity/granularity issue. produces produces a produced_by b iff some process that occurs_in b has_output a. RO:0003001 external uberon produced_by produced_by produced by produced by produced_by p 'has primary input ot output' c iff either (a) p 'has primary input' c or (b) p 'has primary output' c. 2018-12-13T11:26:17Z RO:0004007 external has_primary_input_or_output has_primary_input_or_output has primary input or output p has primary output c if (a) p has output c and (b) the goal of process is to modify, produce, or transform c. 2018-12-13T11:26:32Z RO:0004008 external has_primary_output has_primary_output has primary output p has primary input c if (a) p has input c and (b) the goal of process is to modify, consume, or transform c. 2018-12-13T11:26:56Z RO:0004009 external has_primary_input has_primary_input has primary input realizable has basis in is basis for realizable disease has basis in A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function. RO:0004020 disease_has_basis_in_dysfunction_of disease_has_basis_in_dysfunction_of disease has basis in dysfunction of A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process. RO:0004021 disease_has_basis_in_disruption_of disease_has_basis_in_disruption_of Editor note: TODO property chain: disease_has_location <- dhbido o occurs_in disease caused by disruption of disease has basis in disruption of A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. RO:0004022 disease_arises_from_feature disease_arises_from_feature disease arises from feature disease has basis in feature causal relationship with disease as subject A relationship between a disease and a process where the disease process disrupts the execution of the process. RO:0004024 disease_disrupts disease_disrupts disease causes disruption of disease disrupts RO:0004025 disease_causes_dysfunction_of disease_causes_dysfunction_of disease causes dysfunction of A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity. RO:0004026 disease_has_location disease_has_location disease has location A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity RO:0004027 disease_has_inflammation_site disease_has_inflammation_site disease has inflammation site A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M. RO:0004028 realized_in_response_to_stimulus realized_in_response_to_stimulus realized in response to stimulus A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. RO:0004029 disease_has_feature disease_has_feature disease has feature A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. RO:0004030 disease_arises_from_structure disease_arises_from_structure disease arises from structure 2018-03-13T23:55:05Z causally upstream of or within, negative effect https://wiki.geneontology.org/Causally_upstream_of_or_within,_negative_effect 2018-03-13T23:55:19Z causally upstream of or within, positive effect r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r. RO:0009501 triggered by process realized_in_response_to realized_in_response_to realized in response to realized in response to p acts on population of c iff c' is a collection, has members of type c, and p has participant c 2020-06-08T17:21:33Z RO:0012003 external acts_on_population_of acts_on_population_of acts on population of acts on population of 2021-02-26T07:28:29Z RO:0012008 external results_in_fusion_of results_in_fusion_of results in fusion of results in fusion of A relationship between a neuron and a region, where the neuron has a functionally relevant number of input and/or output synapses in that region. 2020-07-17T09:26:52Z has synaptic input or output in has synaptic IO in region q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. different in magnitude relative to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. This relation is used to determine the 'directionality' of relative qualities such as 'increased strength', relative to the parent type, 'strength'. increased in magnitude relative to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. This relation is used to determine the 'directionality' of relative qualities such as 'decreased strength', relative to the parent type, 'strength'. decreased in magnitude relative to s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. Example: a spherical object has the quality of being spherical, and the spherical quality has_cross_section round. has cross section q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. There are frequently two ways to state the same thing: we can say 'spermatocyte lacks asters' or 'asters absent from spermatocyte'. In this case the quality is 'lacking all parts of type' - it is a (relational) quality of the spermatocyte, and it is with respect to instances of 'aster'. One of the popular requirements of PATO is that it continue to support 'absent', so we need to relate statements which use this quality to the 'lacking all parts of type' quality. reciprocal of 'Ly-76 high positive erythrocyte' equivalent to 'enucleate erythrocyte' and (has_high_plasma_membrane_amount some 'lymphocyte antigen 76 (mouse)') A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. has high plasma membrane amount 'DN2b thymocyte' equivalent to 'DN2 thymocyte' and (has_low_plasma_membrane_amount some 'mast/stem cell growth factor receptor') A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. has low plasma membrane amount This relation groups relations between diseases and any other kind of entity. disease relationship p has anatomical participant c iff p has participant c, and c is an anatomical entity 2018-09-26T01:08:58Z RO:0040036 external results_in_changes_to_anatomical_or_cellular_structure results_in_changes_to_anatomical_or_cellular_structure results in changes to anatomical or cellular structure a object property that specifies a relation between a vaccine and a vaccine allergen YH has vaccine allergen a shortcut relation that equals to: 'processed material' and (is_specified_output_of some 'vaccine preparation') and ('has function' some ('vaccine function' and ('is realized by' only ('vaccine immunization' and (realizes some ('vaccine host role' and (role_of some 'organism')))))))). The domain of this relation is a vaccine. The range of this relation is a organism. YL Yongqun He immunization for host vaccine immunization for host immunizes host a shortcut relation that equals to: processed material and (is_specified_output_of some vaccine preparation) and (has function some (vaccine function and (is realized by only (vaccine immunization and (realizes some ('immunization target role' and (role_of some 'MICROBE')))))))) The domain of this relation is a vaccine. The range of this relation is a microbe (a bacterium, a virus, a fungus, and a parasite) Yongqun He immunization against microbe vaccine immunization against microbe immunizes against microbe has parent hydride is conjugate acid of is conjugate base of is substituent group from has_completed A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). has_high_plasma_membrane_amount A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). has_low_plasma_membrane_amount has_not_completed http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 ?Y lacks_part http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 (http://purl.obolibrary.org/obo/GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y) lacks_plasma_membrane_part interacts_with interacts_with_an_exposure_receptor_via interacts_with_an_exposure stressor_via disease_causes_feature disease causes feature disease_has_basis_in_development_of disease_has_basis_in_development_of disease_has_major_feature disease has major feature disease_responds_to disease responds to disease_shares_features_of disease shares features of predisposes_towards predisposes towards q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. different_in_magnitude_relative_to s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. has_cross_section q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. increased_in_magnitude_relative_to A relation that holds between a polymer and its constituent monomers. P has_constituent_monomer c if and only if P has_component multiple instances of c and each instance of c is covalently attached to another instance of c. protein has_constituent_monomer false The constituent monomers need not be covalently attached in an end-to-end manner; that is, polymers with internal connections (e.g., polyubiquitin) can use this relation, as can circular polymers (e.g., plasmids) and multi-branched polymers (e.g., glycans). This relation, as non-transitive, allows one to indicate the number of instances of c. has_constituent_monomer See document https://docs.google.com/document/d/15iVMtMyYbQSlvUDgn2XUaDzpwkB0USZI for full definition. protein has_gene_template false has_gene_template A negation of the has_part relation. protein lacks_part false lacks_part Inverse of part_of. has_part has_quality member_of X part_of Y if X is a subregion of Y. part_of x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. anteriorly connected to carries uberon channel_for channel for uberon channels_from channels_from uberon channels_into channels_into x is a conduit for y iff y passes through the lumen of x. uberon conduit_for conduit for x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. distally connected to uberon existence_starts_and_ends_during existence starts and ends during X extends_fibers into Y iff there exists some neuron (N) and N has_soma_location X and N 'has synaptic IO in region' some Y uberon extends_fibers_into extends_fibers_into Relationship between a fluid and a material entity, where the fluid is the output of a realization of a filtration role that inheres in the material entity. uberon filtered_through Relationship between a fluid and a filtration barrier, where the portion of fluid arises as a transformation of another portion of fluid on the other side of the barrier, with larger particles removed filtered through X in_central_side Y <=> if Y is subdivided into left and right portions around some median divisor, all parts of X are closer to the median divisor than the outermost lateral sides. uberon in_central_side_of in_central_side_of https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. posteriorly connected to uberon protects protects x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. uberon proximally_connected_to proximally connected to c site_of p if c is the bearer of a disposition that is realized by a process that has p as part. uberon capable_of_has_part site_of site_of uberon subdivision_of placeholder relation. X = 'subdivision of A' and subdivision_of some B means that X is the mereological sum of A and B subdivision of . transitively anteriorly connected to transitively_connected to . transitively distally connected to . uberon transitively_proximally_connected_to transitively proximally connected to http://purl.obolibrary.org/obo/uberon/docs/Connectivity-Design-Pattern http://purl.org/obo/owl/relationship OBO_REL:0000007 relationship has_proper_part has_proper_part Ingredient Ingredient Strength Packaged Product VA Class VA Product Active Inactive has measurement value The data type "last 4 digits of social security number" has digit number of 4. A data property that represents a relation between a data type and a number of integer digits that the data type has. Oliver He has digit number quality measured by year Chemical Ingredients N0000000002 991181 C178 Chemical Ingredients [Chemical/Ingredient] Clinical Kinetics N0000000003 1030853 C1373163 C180 Clinical Kinetics [PK] Diseases, Manifestations or Physiologic States N0000000004 989348 C1373233 C182 Diseases, Manifestations or Physiologic States [Disease/Finding] Mental Disorders and Manifestations N0000000006 984721 C2916796 C190 Mental Disorders and Manifestations [Disease/Finding] Infectious Diseases N0000000007 1023583 189822004 190563008 191415002 40733004 C0009450 C192 Infectious Diseases [Disease/Finding] Elimination N0000000022 986944 C0221102 C222 Elimination [PK] Metabolism N0000000023 1023904 C0025519 C224 Metabolism [PK] Site of Metabolism N0000000024 988808 C1373176 C226 Site of Metabolism [PK] Hepatic Metabolism N0000000026 984512 C1373178 C230 Hepatic Metabolism [PK] Route of Excretion N0000000041 987962 C1373186 C260 Route of Excretion [PK] Renal Excretion N0000000042 986666 C1373187 C262 Renal Excretion [PK] Physiochemical Activity N0000000065 989958 C1372991 C308 Physiochemical Activity [MoA] Small Ion Transport Pump Interactions N0000000066 986087 C1373107 C310 Small Ion Transport Pump Interactions [MoA] Active Transporter Interactions N0000000072 1031287 C1373104 C322 Active Transporter Interactions [MoA] Immunologic Factors D007155 Immunologic Factors N0000000082 993127 C2757006 C342 Immunologic Factors [MoA] Receptor Interactions N0000000085 988560 C1372999 C348 Receptor Interactions [MoA] Reverse Transcriptase Inhibitors D018894 Reverse Transcriptase Inhibitors N0000000103 993157 C2757067 C384 Reverse Transcriptase Inhibitors [MoA] Dopamine Agonists D018491 Dopamine Agonists N0000000117 992714 Dopaminergic Agonist C2757007 C412 Dopamine Agonists [MoA] Adrenergic Agonists D000322 Adrenergic Agonists N0000000122 1029285 C2757025 C422 Adrenergic Agonists [MoA] Enzyme Inhibitors D004791 Enzyme Inhibitors N0000000133 1032544 C2756995 C444 Enzyme Inhibitors [MoA] Biological Macromolecular Activity N0000000142 988641 C2267218 C462 Biological Macromolecular Activity [MoA] G-Protein-linked Receptor Interactions N0000000152 984725 G-Protein-linked Receptor-Effector Interactions C2916797 C482 G-Protein-linked Receptor Interactions [MoA] Adrenergic Receptor Interactions N0000000153 987972 C1373072 C484 Adrenergic Receptor Interactions [MoA] Enzyme Interactions N0000000163 988200 C1373066 C504 Enzyme Interactions [MoA] Cytokine Receptor Superfamily Interactions N0000000175 984937 C1373058 C528 Cytokine Receptor Superfamily Interactions [MoA] Ion Channel Interactions N0000000193 988382 C1373047 C564 Ion Channel Interactions [MoA] Cholinergic Nicotinic Receptor Interactions N0000000199 985201 C2267220 C576 Cholinergic Nicotinic Receptor Interactions [MoA] beta Lactamase Inhibitors N0000000202 989759 beta-Lactamase Inhibitors C1373040 C582 beta Lactamase Inhibitors [MoA] Dopamine Receptor Interactions N0000000203 985948 C1373039 C584 Dopamine Receptor Interactions [MoA] Electrolyte Activity N0000000220 984201 C2267221 C618 Electrolyte Activity [MoA] Cellular or Molecular Interactions N0000000223 986459 C1373094 C624 Cellular or Molecular Interactions [MoA] Acid-Base Activity N0000000226 985379 C2267222 C630 Acid-Base Activity [MoA] Cholinergic Nicotinic Antagonists N0000000227 989668 C1373090 C632 Cholinergic Nicotinic Antagonists [MoA] Structural Macromolecules N0000000228 984803 C1373089 C634 Structural Macromolecules [MoA] Nucleic Acid Synthesis Inhibitors D019384 Nucleic Acid Synthesis Inhibitors N0000000233 993166 C2757009 C644 Nucleic Acid Synthesis Inhibitors [MoA] Adrenergic beta-Agonists D000318 Adrenergic beta-Agonists N0000000245 992727 Beta-adrenergic Agonist C2757043 C668 Adrenergic beta-Agonists [MoA] Polycationic Channel Interactions N0000000253 990209 C1373076 C684 Polycationic Channel Interactions [MoA] Immunologic and Biological Factors D007151 Immunologic and Biological Factors N0000000254 1032698 C0021048 C686 Immunologic and Biological Factors [MoA] Congenital Abnormalities M0000013 D000013 Malformations of organs or body parts during development in utero. Congenital Abnormalities N0000000264 1021840 276654001 276655000 276720006 Abnormalities, Congenital Birth Defects Congenital Defects Defects, Congenital Deformities C0000768 C706 Congenital Abnormalities [Disease/Finding] Abnormalities, Drug-Induced M0000014 D000014 Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment. Abnormalities, Drug-Induced N0000000265 989962 Drug-Induced Abnormalities C0000771 C708 Abnormalities, Drug-Induced [Disease/Finding] Acid-Base Imbalance M0000212 D000137 Disturbances in the ACID-BASE EQUILIBRIUM of the body. Acid-Base Imbalance N0000000282 1026879 C0001118 C742 Acid-Base Imbalance [Disease/Finding] Acidosis M0000213 D000138 A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up. Acidosis N0000000283 1023565 51387008 C0001122 C744 Acidosis [Disease/Finding] Alcohol Withdrawal Delirium M0000652 D000430 An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175) Alcohol Withdrawal Delirium N0000000351 1023188 8635005 Alcohol Withdrawal-Induced Delirium Tremens Delirium Tremens Delirium Tremens, Alcohol Withdrawal Induced C0001957 C880 Alcohol Withdrawal Delirium [Disease/Finding] Alkalosis M0000714 D000471 A pathological condition that removes acid or adds base to the body fluids. Alkalosis N0000000355 1025787 21420006 C0002063 C888 Alkalosis [Disease/Finding] Anuria M0001524 D001002 Absence of urine formation. It is usually associated with complete bilateral ureteral (URETER) obstruction, complete lower urinary tract obstruction, or unilateral ureteral obstruction when a solitary kidney is present. Anuria N0000000431 1023563 2472002 C0003460 C1040 Anuria [Disease/Finding] Aortic Stenosis, Subvalvular M0001552 D001020 A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. Aortic Stenosis, Subvalvular N0000000442 1025918 Aortic Subvalvular Stenosis Subvalvular Aortic Stenosis C0003500 C1062 Aortic Stenosis, Subvalvular [Disease/Finding] Aortic Valve Stenosis M0001557 D001024 A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. Aortic Valve Stenosis N0000000445 1021926 60573004 Aortic Stenosis C0003507 C1068 Aortic Valve Stenosis [Disease/Finding] Arrhythmias, Cardiac M0001715 D001145 Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction. Arrhythmias, Cardiac N0000000469 1023395 195107004 Arrhythmia Arrythmia Cardiac Arrhythmia Cardiac Arrhythmias Cardiac Dysrhythmia C0003811 C1116 Arrhythmias, Cardiac [Disease/Finding] Ascites M0001791 D001201 Accumulation or retention of free fluid within the peritoneal cavity. Ascites N0000000490 1021930 389026000 C0003962 C1158 Ascites [Disease/Finding] Bacterial Infections and Mycoses M0002125 D001423 Infections caused by bacteria and fungi, general, specified, or unspecified. Bacterial Infections and Mycoses N0000000523 986958 C0004615 C1224 Bacterial Infections and Mycoses [Disease/Finding] Mental Disorders M0002289 D001523 Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function. Mental Disorders N0000000538 1022308 74732009 C0004936 C1254 Mental Disorders [Disease/Finding] Blood Coagulation Disorders M0002683 D001778 Hemorrhagic and thrombotic disorders that occur as a consequence of abnormalities in blood coagulation due to a variety of factors such as COAGULATION PROTEIN DISORDERS; BLOOD PLATELET DISORDERS; BLOOD PROTEIN DISORDERS or nutritional conditions. Blood Coagulation Disorders N0000000575 1022276 362970003 64779008 Coagulation Disorders, Blood Disorders, Blood Coagulation C0005779 C1328 Blood Coagulation Disorders [Disease/Finding] Bone Diseases M0002776 D001847 Diseases of BONES. Bone Diseases N0000000584 1025929 308147009 76069003 C0005940 C1346 Bone Diseases [Disease/Finding] Bone Diseases, Metabolic M0002780 D001851 Bone Diseases, Metabolic N0000000588 1026469 50279003 Metabolic Bone Diseases C0005944 C1354 Bone Diseases, Metabolic [Disease/Finding] Bradycardia M0002863 D001919 Cardiac arrhythmias that are characterized by excessively slow HEART RATE, usually below 50 beats per minute in human adults. They can be classified broadly into SINOATRIAL NODE dysfunction and ATRIOVENTRICULAR BLOCK. Bradycardia N0000000600 1025503 48867003 Bradyarrhythmia Bradyarrhythmias C0428977 C1378 Bradycardia [Disease/Finding] Brain Diseases M0002874 D001927 Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM. Brain Diseases N0000000605 986258 81308009 Brain Disorders CNS Disorders, Intracranial Central Nervous System Disorders, Intracranial Central Nervous System Intracranial Disorders Encephalon Diseases Intracranial CNS Disorders Intracranial Central Nervous System Disorders C0006111 C1388 Brain Diseases [Disease/Finding] Calcium Metabolism Disorders M0003174 D002128 Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. Calcium Metabolism Disorders N0000000646 1024541 71638002 C0006705 C1470 Calcium Metabolism Disorders [Disease/Finding] Calculi M0003195 D002137 An abnormal concretion occurring mostly in the urinary and biliary tracts, usually composed of mineral salts. Also called stones. Calculi N0000000647 1026851 125243009 56381008 Biliary or Urinary Stones C0006736 C1472 Calculi [Disease/Finding] Candidiasis M0003258 D002177 Infection with a fungus of the genus CANDIDA. It is usually a superficial infection of the moist areas of the body and is generally caused by CANDIDA ALBICANS. (Dorland, 27th ed) Candidiasis N0000000650 1022538 78048006 Moniliasis C0006840 C1478 Candidiasis [Disease/Finding] Candidiasis, Chronic Mucocutaneous M0003259 D002178 A clinical syndrome characterized by development, usually in infancy or childhood, of a chronic, often widespread candidiasis of skin, nails, and mucous membranes. It may be secondary to one of the immunodeficiency syndromes, inherited as an autosomal recessive trait, or associated with defects in cell-mediated immunity, endocrine disorders, dental stomatitis, or malignancy. Candidiasis, Chronic Mucocutaneous N0000000651 1023229 234568006 C0006845 C1480 Candidiasis, Chronic Mucocutaneous [Disease/Finding] Candidiasis, Cutaneous M0003260 D002179 Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed) Candidiasis, Cutaneous N0000000652 1025470 49883006 Moniliasis, Cutaneous C0006846 C1482 Candidiasis, Cutaneous [Disease/Finding] Candidiasis, Oral M0003261 D002180 Infection of the mucous membranes of the mouth by a fungus of the genus CANDIDA. (Dorland, 27th ed) Candidiasis, Oral N0000000653 1022622 79740000 Moniliasis, Oral Thrush C0006849 C1484 Candidiasis, Oral [Disease/Finding] Candidiasis, Vulvovaginal M0003262 D002181 Infection of the VULVA and VAGINA with a fungus of the genus CANDIDA. Candidiasis, Vulvovaginal N0000000654 1024776 72605008 Moniliasis, Vulvovaginal C0700345 C1486 Candidiasis, Vulvovaginal [Disease/Finding] Cardiac Output, Low M0003453 D002303 A state of subnormal or depressed cardiac output at rest or during stress. It is a characteristic of CARDIOVASCULAR DISEASES, including congenital, valvular, rheumatic, hypertensive, coronary, and cardiomyopathic. The serious form of low cardiac output is characterized by marked reduction in STROKE VOLUME, and systemic vasoconstriction resulting in cold, pale, and sometimes cyanotic extremities. Cardiac Output, Low N0000000683 1024618 86318000 Low Cardiac Output C0007166 C1544 Cardiac Output, Low [Disease/Finding] Cardiovascular Diseases M0003473 D002318 Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM. Cardiovascular Diseases N0000000689 1022075 105980002 49601007 C0007222 C1556 Cardiovascular Diseases [Disease/Finding] Central Nervous System Diseases M0003805 D002493 Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord. Central Nervous System Diseases N0000000709 1023588 23853001 CNS Diseases Central Nervous System Disorders C0007682 C1596 Central Nervous System Diseases [Disease/Finding] Cerebrovascular Disorders M0003914 D002561 A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others. Cerebrovascular Disorders N0000000730 1022010 62914000 Brain Vascular Disorders Intracranial Vascular Disorders Vascular Diseases, Intracranial C0007820 C1638 Cerebrovascular Disorders [Disease/Finding] Coma M0004841 D003128 A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem RETICULAR FORMATION. Coma N0000000819 988251 371632003 Comatose C0009421 C1816 Coma [Disease/Finding] Consciousness Disorders M0005031 D003244 Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition. Consciousness Disorders N0000000840 1031236 C0009792 C1858 Consciousness Disorders [Disease/Finding] Corneal Diseases M0005177 D003316 Diseases of the cornea. Corneal Diseases N0000000851 1024256 15250008 C0010034 C1880 Corneal Diseases [Disease/Finding] Crohn Disease M0005335 D003424 A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients. Crohn Disease N0000000875 1024195 34000006 Crohn's Disease C0010346 C1928 Crohn Disease [Disease/Finding] Cytomegalovirus Infections M0005604 D003586 Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults. Cytomegalovirus Infections N0000000897 1023187 28944009 Cytomegalic Inclusion Disease Inclusion Disease Infections, Cytomegalovirus Salivary Gland Virus Disease C0010823 C1972 Cytomegalovirus Infections [Disease/Finding] Deficiency Diseases M0005753 D003677 A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) Deficiency Diseases N0000000909 1025258 C0011156 C1996 Deficiency Diseases [Disease/Finding] Dehydration M0005757 D003681 The condition that results from excessive loss of water from a living organism. Dehydration N0000000911 1023412 34095006 C0011175 C2000 Dehydration [Disease/Finding] Dermatitis M0006046 D003872 Any inflammation of the skin. Dermatitis N0000000939 1023378 182782007 C0011603 C2056 Dermatitis [Disease/Finding] Dermatitis, Atopic M0006050 D003876 A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. Dermatitis, Atopic N0000000943 1022124 200773006 200775004 24079001 Eczema, Atopic Neurodermatitis, Atopic Neurodermatitis, Disseminated C0011615 C2064 Dermatitis, Atopic [Disease/Finding] Dermatomycoses M0006059 D003881 Superficial infections of the skin or its appendages by any of various fungi. Dermatomycoses N0000000945 1021749 14560005 276206000 Dermatomycosis Fungal Skin Diseases Skin Diseases, Fungal C0011630 C2068 Dermatomycoses [Disease/Finding] Digestive System Diseases M0006374 D004066 Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS). Digestive System Diseases N0000000973 1023342 53619000 C0012242 C2124 Digestive System Diseases [Disease/Finding] DNA Virus Infections M0006675 D004266 DNA Virus Infections N0000000993 1027612 Infections, DNA Virus C0012922 C2164 DNA Virus Infections [Disease/Finding] Drug Hypersensitivity M0006829 D004342 Immunologically mediated adverse reactions to medicinal substances used legally or illegally. Drug Hypersensitivity N0000000999 1024684 416093006 416098002 Allergy, Drug Drug Allergy Hypersensitivity, Drug C0013182 C2176 Drug Hypersensitivity [Disease/Finding] Drug Toxicity M0006855 D004362 Manifestations of the adverse effects of drugs administered therapeutically or in the course of diagnostic techniques. It does not include accidental or intentional poisoning for which specific headings are available. Drug Toxicity N0000001000 1022029 7895008 Toxicity, Drug C0013221 C2178 Drug Toxicity [Disease/Finding] Edema M0007051 D004487 Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE. Edema N0000001057 1022374 20741006 79654002 Dropsy Hydrops C0013604 C2292 Edema [Disease/Finding] Eye Diseases M0008088 D005128 Eye Diseases N0000001181 1023594 194183009 C0015397 C2540 Eye Diseases [Disease/Finding] Female Urogenital Diseases and Pregnancy Complications M0008309 D005261 Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. Female Urogenital Diseases and Pregnancy Complications N0000001224 985609 C1720765 C2626 Female Urogenital Diseases and Pregnancy Complications [Disease/Finding] Food Hypersensitivity M0008686 D005512 Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food. Food Hypersensitivity N0000001270 1025015 414285001 Allergy, Food Food Allergy Hypersensitivity, Food C0016470 C2718 Food Hypersensitivity [Disease/Finding] Gastroenteritis M0009018 D005759 INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER. Gastroenteritis N0000001317 1024672 25374005 C0017160 C2812 Gastroenteritis [Disease/Finding] Gastrointestinal Diseases M0009033 D005767 Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Gastrointestinal Diseases N0000001320 1022118 119292006 C0017178 C2818 Gastrointestinal Diseases [Disease/Finding] Genital Diseases, Female M0009154 D005831 Pathological processes involving the female reproductive tract (GENITALIA, FEMALE). Genital Diseases, Female N0000001323 1026095 244938009 310789003 Female Genital Diseases Gynecologic Diseases C0017411 C2824 Genital Diseases, Female [Disease/Finding] Genital Diseases, Male M0009155 D005832 Pathological processes involving the male reproductive tract (GENITALIA, MALE). Genital Diseases, Male N0000001324 1021837 64557000 Male Genital Diseases C0017412 C2826 Genital Diseases, Male [Disease/Finding] Graft vs Host Disease M0009578 D006086 The clinical entity characterized by anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the GRAFT VS HOST REACTION. Graft vs Host Disease N0000001384 1024721 234646005 Graft-Versus-Host Disease Graft-vs-Host Disease Homologous Wasting Disease Runt Disease C0018133 C2946 Graft vs Host Disease [Disease/Finding] Heart Arrest M0009938 D006323 Cessation of heart beat or MYOCARDIAL CONTRACTION. If it is treated within a few minutes, heart arrest can be reversed in most cases to normal cardiac rhythm and effective circulation. Heart Arrest N0000001429 1025093 309810002 397829000 410429000 Asystole Cardiac Arrest C0018790 C3036 Heart Arrest [Disease/Finding] Heart Block M0009945 D006327 Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the SINOATRIAL NODE and the right atrium (SA block) or between atria and ventricles (AV block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects. Heart Block N0000001430 1023276 233916004 C0018794 C3038 Heart Block [Disease/Finding] Heart Diseases M0009951 D006331 Pathological conditions involving the HEART including its structural and functional abnormalities. Heart Diseases N0000001432 1022072 56265001 Cardiac Diseases C0018799 C3042 Heart Diseases [Disease/Finding] Heart Failure M0009953 D006333 A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION. Heart Failure N0000001434 1024953 42343007 Cardiac Failure C0018802 C3046 Heart Failure [Disease/Finding] Heart Valve Diseases M0009972 D006349 Pathological conditions involving any of the various HEART VALVES and the associated structures (PAPILLARY MUSCLES and CHORDAE TENDINEAE). Heart Valve Diseases N0000001443 989613 368009 Valvular Heart Diseases C0018824 C3064 Heart Valve Diseases [Disease/Finding] Hematologic Diseases M0010044 D006402 Disorders of the blood and blood forming tissues. Hematologic Diseases N0000001459 1021953 191402006 267573000 Blood Diseases Hematological Diseases C0018939 C3096 Hematologic Diseases [Disease/Finding] Hemic and Lymphatic Diseases M0010072 D006425 Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. Hemic and Lymphatic Diseases N0000001466 1026878 C0018981 C3110 Hemic and Lymphatic Diseases [Disease/Finding] Hemorrhage M0010152 D006470 Bleeding or escape of blood from a vessel. Hemorrhage N0000001481 1023287 195511004 Bleeding C0019080 C3140 Hemorrhage [Disease/Finding] Hemorrhagic Disorders M0010157 D006474 Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS). Hemorrhagic Disorders N0000001485 1023732 191331006 Hemorrhagic Diathesis C0019087 C3148 Hemorrhagic Disorders [Disease/Finding] Hepatitis M0010205 D006505 INFLAMMATION of the LIVER. Hepatitis N0000001499 989819 128241005 197351001 C0019158 C3176 Hepatitis [Disease/Finding] Herpes Genitalis M0010276 D006558 Infection of the genitals (GENITALIA) with HERPES SIMPLEX VIRUS in either the males or the females. Herpes Genitalis N0000001527 1025755 271463009 33839006 Genital Herpes Herpes Simplex Virus Genital Infection Herpes Simplex, Genital C0019342 C3232 Herpes Genitalis [Disease/Finding] Herpes Simplex M0010279 D006561 A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.) Herpes Simplex N0000001530 1023866 88594005 C0019348 C3238 Herpes Simplex [Disease/Finding] Herpesviridae Infections M0010285 D006566 Virus diseases caused by the HERPESVIRIDAE. Herpesviridae Infections N0000001533 1024733 23513009 Herpesvirus Infections Infections, Herpesviridae Infections, Herpesvirus C0019372 C3244 Herpesviridae Infections [Disease/Finding] Hypercalcemia M0010814 D006934 Abnormally high level of calcium in the blood. Hypercalcemia N0000001577 1026898 66931009 C0020437 C3332 Hypercalcemia [Disease/Finding] Hyperglycemia M0010824 D006943 Abnormally high BLOOD GLUCOSE level. Hyperglycemia N0000001586 1021913 80394007 C0020456 C3350 Hyperglycemia [Disease/Finding] Hyperkalemia M0010828 D006947 Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed) Hyperkalemia N0000001590 1021945 14140009 238142003 Hyperpotassemia C0020461 C3358 Hyperkalemia [Disease/Finding] Hypernatremia M0010837 D006955 Excessive amount of sodium in the blood. (Dorland, 27th ed) Hypernatremia N0000001598 1026718 286926003 39355002 C0020488 C3374 Hypernatremia [Disease/Finding] Hypersensitivity M0010851 D006967 Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen. Hypersensitivity N0000001610 1022134 106190000 127072000 269284003 Allergy C0020517 C3398 Hypersensitivity [Disease/Finding] Hypersensitivity, Immediate M0010854 D006969 Hypersensitivity reactions which occur within minutes of exposure to challenging antigen due to the release of histamine which follows the antigen-antibody reaction and causes smooth muscle contraction and increased vascular permeability. Hypersensitivity, Immediate N0000001612 1023968 20671006 Atopic Hypersensitivity Hypersensitivity, Atopic Hypersensitivity, Type I IgE-Mediated Hypersensitivity Type I Hypersensitivity C0020523 C3402 Hypersensitivity, Immediate [Disease/Finding] Hypertension M0010859 D006973 Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. Hypertension N0000001616 1023354 38341003 Blood Pressure, High C0020538 C3410 Hypertension [Disease/Finding] Hypocalcemia M0010891 D006996 Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed) Hypocalcemia N0000001632 1022560 5291005 C0020598 C3442 Hypocalcemia [Disease/Finding] Hypoglycemia M0010901 D007003 A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH. Hypoglycemia N0000001635 1026036 190433001 237630007 271327008 302866003 C0020615 C3448 Hypoglycemia [Disease/Finding] Hyponatremia M0010911 D007010 Deficiency of sodium in the blood; salt depletion. (Dorland, 27th ed) Hyponatremia N0000001640 1022083 238115004 89627008 C0020625 C3458 Hyponatremia [Disease/Finding] Hypoprothrombinemias M0010925 D007020 Absence or reduced levels of prothrombin in the blood. Hypoprothrombinemias N0000001647 1023756 73975000 Deficiency, Factor II Factor II Deficiency Prothrombin Deficiency C0020640 C3472 Hypoprothrombinemias [Disease/Finding] Immunologic Deficiency Syndromes M0011155 D007153 Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. Immunologic Deficiency Syndromes N0000001667 1022772 191005003 234532001 Deficiency Syndrome, Immunologic Deficiency Syndromes, Immunologic Immunologic Deficiency Syndrome Immunological Deficiency Syndromes C0021051 C3512 Immunologic Deficiency Syndromes [Disease/Finding] Immune System Diseases M0011156 D007154 Disorders caused by abnormal or absent immunologic mechanisms, whether humoral, cell-mediated, or both. Immune System Diseases N0000001668 1022843 41266007 Diseases of Immune System Immune Diseases Immune Disorders Immunologic Diseases Immunological Diseases C0021053 C3514 Immune System Diseases [Disease/Finding] Infant, Newborn, Diseases M0011286 D007232 Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts. Infant, Newborn, Diseases N0000001678 1024869 22925008 C0021290 C3534 Infant, Newborn, Diseases [Disease/Finding] Infant, Premature, Diseases M0011290 D007235 Infant, Premature, Diseases N0000001679 990391 C0021295 C3536 Infant, Premature, Diseases [Disease/Finding] Infection M0011294 D007239 Invasion of the host organism by microorganisms that can cause pathological conditions or diseases. Infection N0000001681 1022093 40733004 C0021311 C3540 Infection [Disease/Finding] Intestinal Diseases M0011569 D007410 Pathological processes in any segment of the INTESTINE from DUODENUM to RECTUM. Intestinal Diseases N0000001698 1023320 85919009 C0021831 C3574 Intestinal Diseases [Disease/Finding] Kidney Calculi M0012008 D007669 Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE. Kidney Calculi N0000001746 1022167 95570007 Kidney Stones Renal Calculi Renal Calculus C0022650 C3670 Kidney Calculi [Disease/Finding] Kidney Diseases M0012014 D007674 Pathological processes of the KIDNEY or its component tissues. Kidney Diseases N0000001748 1022215 90708001 C0022658 C3674 Kidney Diseases [Disease/Finding] Kidney Failure, Acute M0012015 D058186 Kidney Failure, Acute N0000001749 1022586 14669001 Acute Kidney Failure Acute Renal Failure Renal Failure, Acute C0022660 C3676 Kidney Failure, Acute [Disease/Finding] Kidney Failure, Chronic M0012016 D007676 The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION. Kidney Failure, Chronic N0000001750 988914 90688005 Chronic Kidney Failure ESRD End-Stage Kidney Disease End-Stage Renal Disease Renal Disease, End-Stage Renal Failure, Chronic Renal Failure, End-Stage C0022661 C3678 Kidney Failure, Chronic [Disease/Finding] Lacrimal Apparatus Diseases M0012135 D007766 Diseases of the lacrimal apparatus. Lacrimal Apparatus Diseases N0000001774 1025659 31053003 C0022904 C3726 Lacrimal Apparatus Diseases [Disease/Finding] Liver Cirrhosis M0012636 D008103 Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules. Liver Cirrhosis N0000001862 1024193 19943007 Cirrhosis, Liver Hepatic Cirrhosis C0023890 C3902 Liver Cirrhosis [Disease/Finding] Liver Diseases M0012644 D008107 Pathological processes of the LIVER. Liver Diseases N0000001866 1024220 235856003 C0023895 C3910 Liver Diseases [Disease/Finding] Lung Diseases M0012744 D008171 Pathological processes involving any part of the LUNG. Lung Diseases N0000001879 1021971 19829001 Disease, Pulmonary Diseases, Pulmonary Pulmonary Disease Pulmonary Diseases C0024115 C3936 Lung Diseases [Disease/Finding] Lung Neoplasms M0012749 D008175 Tumors or cancer of the LUNG. Lung Neoplasms N0000001883 1023224 126713003 Neoplasms, Lung Neoplasms, Pulmonary Pulmonary Neoplasms C0024121 C3944 Lung Neoplasms [Disease/Finding] Magnesium Deficiency M0012886 D008275 A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936) Magnesium Deficiency N0000001921 1024574 238118002 Deficiency, Magnesium C0024473 C4020 Magnesium Deficiency [Disease/Finding] Metabolic Diseases M0013493 D008659 Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) Metabolic Diseases N0000002004 1022778 30390004 75934005 Diseases, Metabolic Thesaurismosis C0025517 C4186 Metabolic Diseases [Disease/Finding] Stomatognathic Diseases M0014128 D009057 General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx. Stomatognathic Diseases N0000002034 1027350 Mouth and Tooth Diseases C0038368 C4246 Stomatognathic Diseases [Disease/Finding] Mouth Diseases M0014130 D009059 Mouth Diseases N0000002036 1027441 118938008 C0026636 C4250 Mouth Diseases [Disease/Finding] Muscle Hypotonia M0014238 D009123 A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching. Muscle Hypotonia N0000002059 1024653 398151007 398152000 Decreased Muscle Tone Hypomyotonia Hypotonia Hypotony, Muscle Muscle Tone Poor Muscular Hypotonia C0026827 C4296 Muscle Hypotonia [Disease/Finding] Musculoskeletal Diseases M0014259 D009140 Diseases of the muscles and their associated ligaments and other connective tissue and of the bones and cartilage viewed collectively. Musculoskeletal Diseases N0000002067 1022076 928000 C0026857 C4312 Musculoskeletal Diseases [Disease/Finding] Mycoses M0014313 D009181 Mycoses N0000002075 1024676 3218000 Fungus Diseases C0026946 C4328 Mycoses [Disease/Finding] Congenital, Hereditary, and Neonatal Diseases and Abnormalities M0014570 D009358 Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. Congenital, Hereditary, and Neonatal Diseases and Abnormalities N0000002121 989203 C0027612 C4420 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Disease/Finding] Neoplasms M0014585 D009369 New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms. Neoplasms N0000002128 1022284 189525008 189526009 55342001 Tumors C0027651 C4434 Neoplasms [Disease/Finding] Neoplasms by Histologic Type M0014588 D009370 A collective term for the various histological types of NEOPLASMS. It is more likely to be used by searchers than by indexers and catalogers. Neoplasms by Histologic Type N0000002129 986146 Histological Type of Neoplasm Histological Types of Neoplasms Neoplasms by Histological Type C0027652 C4436 Neoplasms by Histologic Type [Disease/Finding] Neoplasms by Site M0014589 D009371 A collective term for precoordinated organ/neoplasm headings locating neoplasms by organ, as BRAIN NEOPLASMS; DUODENAL NEOPLASMS; LIVER NEOPLASMS; etc. Neoplasms by Site N0000002130 1026659 Neoplasms by Sites Site, Neoplasm Sites, Neoplasm C0027653 C4438 Neoplasms by Site [Disease/Finding] Neoplasms, Germ Cell and Embryonal M0014592 D009373 Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS. Neoplasms, Germ Cell and Embryonal N0000002132 1026873 Germ Cell and Embryonal Neoplasms Germ Cell and Embryonic Neoplasms Neoplasms, Germ Cell and Embryonic C0027658 C4442 Neoplasms, Germ Cell and Embryonal [Disease/Finding] Neoplasms, Nerve Tissue M0014605 D009380 Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves. Neoplasms, Nerve Tissue N0000002139 985772 Neoplasms, Nervous Tissue Nerve Tissue Neoplasms Nervous Tissue Neoplasms C0027665 C4456 Neoplasms, Nerve Tissue [Disease/Finding] Nephrosis M0014635 D009401 Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA. Nephrosis N0000002153 1025384 90708001 C0027720 C4484 Nephrosis [Disease/Finding] Nephrotic Syndrome M0014639 D009404 A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction. Nephrotic Syndrome N0000002155 1026285 52254009 C0027726 C4488 Nephrotic Syndrome [Disease/Finding] Nervous System Diseases M0014667 D009422 Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle. Nervous System Diseases N0000002159 1026444 118940003 Nervous System Disorders Neurologic Disorders Neurological Disorders C0027765 C4496 Nervous System Diseases [Disease/Finding] Neurologic Manifestations M0014716 D009461 Clinical signs and symptoms caused by nervous system injury or dysfunction. Neurologic Manifestations N0000002173 1025946 Manifestations, Neurologic Manifestations, Neurological Neurologic Manifestation Neurologic Signs and Symptoms Neurological Manifestations C0027854 C4524 Neurologic Manifestations [Disease/Finding] Nutrition Disorders M0015120 D009748 Disorders caused by nutritional imbalance, either overnutrition or undernutrition. Nutrition Disorders N0000002196 1024039 2492009 Nutritional Disorders C0028709 C4570 Nutrition Disorders [Disease/Finding] Nutritional and Metabolic Diseases M0015124 D009750 A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. Nutritional and Metabolic Diseases N0000002197 1026553 C0028715 C4572 Nutritional and Metabolic Diseases [Disease/Finding] Opportunistic Infections M0015350 D009894 An infection caused by an organism which becomes pathogenic under certain conditions, e.g., during immunosuppression. Opportunistic Infections N0000002225 1025670 61274003 C0029118 C4628 Opportunistic Infections [Disease/Finding] Osteoporosis M0015552 D010024 Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. Osteoporosis N0000002260 1022418 203428004 64859006 C0029456 C4698 Osteoporosis [Disease/Finding] Paraganglioma M0015869 D010235 A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion, such as the carotid body, or medulla of the adrenal gland (usually called a chromaffinoma or pheochromocytoma). It is more common in women than in men. (Stedman, 25th ed; from Segen, Dictionary of Modern Medicine, 1992) Paraganglioma N0000002299 1022619 127027008 253029009 302833002 Paraganglioma, Gangliocytic C0030421 C4776 Paraganglioma [Disease/Finding] Parasitic Diseases M0015919 D010272 Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure. Parasitic Diseases N0000002319 987316 17322007 C0030499 C4816 Parasitic Diseases [Disease/Finding] Pathologic Processes M0016012 D010335 The abnormal mechanisms and forms involved in the dysfunctions of tissues and organs. Pathologic Processes N0000002338 1025320 308489006 370135005 Pathological Processes Processes, Pathologic C0030660 C4854 Pathologic Processes [Disease/Finding] Pheochromocytoma M0016586 D010673 A usually benign, well-encapsulated, lobular, vascular tumor of chromaffin tissue of the ADRENAL MEDULLA or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of EPINEPHRINE and NOREPINEPHRINE, is HYPERTENSION, which may be persistent or intermittent. During severe attacks, there may be HEADACHE; SWEATING, palpitation, apprehension, TREMOR; PALLOR or FLUSHING of the face, NAUSEA and VOMITING, pain in the CHEST and ABDOMEN, and paresthesias of the extremities. The incidence of malignancy is as low as 5% but the pathologic distinction between benign and malignant pheochromocytomas is not clear. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1298) Pheochromocytoma N0000002390 1021872 302835009 399343007 C0031511 C4958 Pheochromocytoma [Disease/Finding] Poisoning M0017099 D011041 A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent. Poisoning N0000002447 1026915 75478009 C0032343 C5072 Poisoning [Disease/Finding] Postoperative Complications M0017367 D011183 Pathologic processes that affect patients after a surgical procedure. They may or may not be related to the disease for which the surgery was done, and they may or may not be direct results of the surgery. Postoperative Complications N0000002467 1022600 385486001 Complication, Postoperative C0032787 C5112 Postoperative Complications [Disease/Finding] Psoriasis M0017975 D011565 A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis. Psoriasis N0000002526 1022582 200961000 9014002 C0033860 C5230 Psoriasis [Disease/Finding] Pulmonary Edema M0018125 D011654 Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening. Pulmonary Edema N0000002540 1024136 19242006 Edema, Pulmonary Edemas, Pulmonary Pulmonary Edemas Wet Lung C0034063 C5258 Pulmonary Edema [Disease/Finding] Respiratory Tract Diseases M0018918 D012140 Respiratory Tract Diseases N0000002602 1024163 C0035242 C5382 Respiratory Tract Diseases [Disease/Finding] Respiratory Tract Neoplasms M0018921 D012142 Respiratory Tract Neoplasms N0000002604 986366 126667002 C0035244 C5386 Respiratory Tract Neoplasms [Disease/Finding] Retroviridae Infections M0018986 D012192 Virus diseases caused by the RETROVIRIDAE. Retroviridae Infections N0000002623 1025440 105635000 Infections, Retroviridae Infections, Retrovirus Retrovirus Infections C0035369 C5424 Retroviridae Infections [Disease/Finding] RNA Virus Infections M0019160 D012327 RNA Virus Infections N0000002650 1027571 Infections, RNA Virus C0035690 C5478 RNA Virus Infections [Disease/Finding] Sexually Transmitted Diseases M0019758 D012749 Diseases due to or propagated by sexual contact. Sexually Transmitted Diseases N0000002724 1023328 8098009 STDs Venereal Diseases C0036916 C5626 Sexually Transmitted Diseases [Disease/Finding] Shock M0019782 D012769 A pathological condition manifested by failure to perfuse or oxygenate vital organs. Shock N0000002728 1023333 274729009 27942005 Circulatory Collapse Circulatory Failure C0036974 C5634 Shock [Disease/Finding] Shock, Hemorrhagic M0019784 D012771 Acute hemorrhage or excessive fluid loss resulting in HYPOVOLEMIA. Shock, Hemorrhagic N0000002730 1026764 355001 Hemorrhagic Shock C0036982 C5638 Shock, Hemorrhagic [Disease/Finding] Signs and Symptoms M0019845 D012816 Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. Signs and Symptoms N0000002748 1024593 C0037088 C5674 Signs and Symptoms [Disease/Finding] Skin Diseases M0019929 D012871 Skin Diseases N0000002761 1022858 95320005 Dermatoses Dermatosis C0037274 C5700 Skin Diseases [Disease/Finding] Skin Diseases, Genetic M0019934 D012873 Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. Skin Diseases, Genetic N0000002763 986094 239001006 Genetic Skin Diseases C0037277 C5704 Skin Diseases, Genetic [Disease/Finding] Skin Diseases, Infectious M0019935 D012874 Skin diseases caused by bacteria, fungi, parasites, or viruses. Skin Diseases, Infectious N0000002764 1025346 108365000 Infectious Skin Diseases C0037278 C5706 Skin Diseases, Infectious [Disease/Finding] Skin Neoplasms M0019939 D012878 Tumors or cancer of the SKIN. Skin Neoplasms N0000002768 1025991 126488004 Neoplasms, Skin C0037286 C5714 Skin Neoplasms [Disease/Finding] Substance Withdrawal Syndrome M0020676 D013375 Physiological and psychological symptoms associated with withdrawal from the use of a drug after prolonged administration or habituation. The concept includes withdrawal from smoking or drinking, as well as withdrawal from an administered drug. Substance Withdrawal Syndrome N0000002855 1027256 C0038587 C5888 Substance Withdrawal Syndrome [Disease/Finding] Pathological Conditions, Signs and Symptoms M0020949 D013568 Abnormal anatomical or physiological conditions and objective or subjective manifestations of disease, not classified as disease or syndrome. Pathological Conditions, Signs and Symptoms N0000002872 984268 Symptoms and General Pathology C0039058 C5922 Pathological Conditions, Signs and Symptoms [Disease/Finding] Tetany M0021207 D013746 A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. Tetany usually results from HYPOCALCEMIA or reduced serum levels of MAGNESIUM that may be associated with HYPERVENTILATION; HYPOPARATHYROIDISM; RICKETS; UREMIA; or other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1490) Tetany N0000002916 1024300 10629009 C0039621 C6010 Tetany [Disease/Finding] Thoracic Neoplasms M0021397 D013899 Thoracic Neoplasms N0000002927 1029082 255058005 C0039981 C6032 Thoracic Neoplasms [Disease/Finding] Unconsciousness M0022251 D014474 Loss of the ability to maintain awareness of self and environment combined with markedly reduced responsiveness to environmental stimuli. (From Adams et al., Principles of Neurology, 6th ed, pp344-5) Unconsciousness N0000003064 1026031 418107008 419045004 Consciousness, Loss of Unconscious State C0041657 C6306 Unconsciousness [Disease/Finding] Urinary Calculi M0022362 D014545 Low-density crystals or stones in any part of the URINARY TRACT. Their chemical compositions often include CALCIUM OXALATE, magnesium ammonium phosphate (struvite), CYSTINE, or URIC ACID. Urinary Calculi N0000003077 1023616 197797001 Urinary Stones Urinary Tract Stones C0042018 C6332 Urinary Calculi [Disease/Finding] Urination Disorders M0022377 D014555 Abnormalities in the process of URINE voiding, including bladder control, frequency of URINATION, as well as the volume and composition of URINE. Urination Disorders N0000003082 1025163 C0042035 C6342 Urination Disorders [Disease/Finding] Male Urogenital Diseases M0489510 D052801 Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE). Male Urogenital Diseases N0000003085 1027597 Male Genitourinary Diseases C1720894 CMSHM0489510 Male Urogenital Diseases [Disease/Finding] Urologic Diseases M0022400 D014570 Pathological processes of the URINARY TRACT in both males and females. Urologic Diseases N0000003086 1022769 128606002 197951006 41368006 Urinary Tract Diseases Urological Diseases C0042075 C6350 Urologic Diseases [Disease/Finding] Vaginal Diseases M0022482 D014623 Pathological processes of the VAGINA. Vaginal Diseases N0000003104 1026314 25658005 C0042251 C6386 Vaginal Diseases [Disease/Finding] Vaginitis M0022488 D014627 Inflammation of the vagina characterized by pain and a purulent discharge. Vaginitis N0000003107 1021851 198213001 30800001 C0042267 C6392 Vaginitis [Disease/Finding] Vascular Diseases M0022535 D014652 Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body. Vascular Diseases N0000003111 1024109 27550009 C0042373 C6400 Vascular Diseases [Disease/Finding] Ventricular Fibrillation M0022595 D014693 A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness (SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST. Ventricular Fibrillation N0000003118 1024218 71908006 C0042510 C6414 Ventricular Fibrillation [Disease/Finding] Ventricular Outflow Obstruction M0022598 D014694 Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS. Ventricular Outflow Obstruction N0000003119 1028258 C0042512 C6416 Ventricular Outflow Obstruction [Disease/Finding] Virus Diseases M0022758 D014777 A general term for diseases produced by viruses. Virus Diseases N0000003128 1022696 34014006 Viral Diseases C0042769 C6434 Virus Diseases [Disease/Finding] Vulvar Diseases M0022856 D014845 Pathological processes of the VULVA. Vulvar Diseases N0000003145 1024723 5089007 C0042994 C6468 Vulvar Diseases [Disease/Finding] Vulvitis M0022858 D014847 Inflammation of the VULVA. It is characterized by PRURITUS and painful urination. Vulvitis N0000003147 1023099 266586003 63144007 C0042996 C6472 Vulvitis [Disease/Finding] Vulvovaginitis M0022859 D014848 Inflammation of the VULVA and the VAGINA, characterized by discharge, burning, and PRURITUS. Vulvovaginitis N0000003148 1025805 198215008 53277000 C0042998 C6474 Vulvovaginitis [Disease/Finding] Water-Electrolyte Imbalance M0022901 D014883 Disturbances in the body's WATER-ELECTROLYTE BALANCE. Water-Electrolyte Imbalance N0000003154 1028873 C0043065 C6486 Water-Electrolyte Imbalance [Disease/Finding] Wounds and Injuries M0023019 D014947 Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. Wounds and Injuries N0000003169 1022221 19130008 Injuries and Wounds Injuries, Wounds Trauma Wounds and Injury Wounds, Injury C0043251 C6516 Wounds and Injuries [Disease/Finding] Inflammatory Bowel Diseases M0023374 D015212 Chronic, non-specific inflammation of the GASTROINTESTINAL TRACT. Etiology may be genetic or environmental. This term includes CROHN DISEASE and ULCERATIVE COLITIS. Inflammatory Bowel Diseases N0000003206 1023128 24526004 Bowel Diseases, Inflammatory C0021390 C6590 Inflammatory Bowel Diseases [Disease/Finding] Sexually Transmitted Diseases, Viral M0023402 D015229 Viral diseases which are transmitted or propagated by sexual conduct. Sexually Transmitted Diseases, Viral N0000003211 1027279 Sexually Transmitted Disease, Viral Venereal Diseases, Viral Viral Sexually Transmitted Disease Viral Sexually Transmitted Diseases Viral Venereal Diseases C0036918 C6600 Sexually Transmitted Diseases, Viral [Disease/Finding] Dry Eye Syndromes M0023637 D015352 Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur. Dry Eye Syndromes N0000003223 987360 46152009 C0013238 C6624 Dry Eye Syndromes [Disease/Finding] Overdose M0023903 D015537 An accidental or deliberate dose of a medication or street drug that is in excess of what is normally used. Overdose N0000003288 1023841 55680006 C0029944 C6754 Overdose [Disease/Finding] HIV Infections M0023997 D015658 Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS). HIV Infections N0000003302 1022756 86406008 HTLV-III Infections HTLV-III-LAV Infections T-Lymphotropic Virus Type III Infections, Human C0019693 C6782 HIV Infections [Disease/Finding] Corneal Edema M0024096 D015715 An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity. Corneal Edema N0000003307 1024597 193812004 27194006 C0010037 C6792 Corneal Edema [Disease/Finding] Lentivirus Infections M0024697 D016180 Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. Lentivirus Infections N0000003384 1024090 24907000 Infections, Lentivirus C0079680 C6946 Lentivirus Infections [Disease/Finding] AIDS-Related Opportunistic Infections M0025965 D017088 Opportunistic infections found in patients who test positive for human immunodeficiency virus (HIV). The most common include PNEUMOCYSTIS PNEUMONIA, Kaposi's sarcoma, cryptosporidiosis, herpes simplex, toxoplasmosis, cryptococcosis, and infections with Mycobacterium avium complex, Microsporidium, and Cytomegalovirus. AIDS-Related Opportunistic Infections N0000003524 1025910 HIV-Related Opportunistic Infections Opportunistic Infections, AIDS-Related Opportunistic Infections, HIV-Related C0162526 C7226 AIDS-Related Opportunistic Infections [Disease/Finding] Kidney Failure M0025974 D051437 A severe irreversible decline in the ability of kidneys to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. Kidney Failure N0000003529 1022860 266553002 42399005 Renal Failure C0035078 C7236 Kidney Failure [Disease/Finding] Skin Diseases, Viral M0026098 D017193 Skin diseases caused by viruses. Skin Diseases, Viral N0000003547 1029386 128937004 Viral Skin Diseases C0162628 C7272 Skin Diseases, Viral [Disease/Finding] Skin and Connective Tissue Diseases M0026454 D017437 A collective term for diseases of the skin and its appendages and of connective tissue. Skin and Connective Tissue Diseases N0000003573 1027511 C0175166 C7324 Skin and Connective Tissue Diseases [Disease/Finding] Skin Diseases, Eczematous M0026466 D017443 Any of a variety of eruptive skin disorders characterized by erythema, oozing, vesiculation, and scaling. Etiology is varied. Skin Diseases, Eczematous N0000003576 1022475 Eczematous Disorders Eczematous Skin Diseases C0162817 C7330 Skin Diseases, Eczematous [Disease/Finding] Skin Diseases, Papulosquamous M0026467 D017444 A group of dermatoses with distinct morphologic features. The primary lesion is most commonly a papule, usually erythematous, with a variable degree of scaling on the surface. Plaques form through the coalescing of primary lesions. Skin Diseases, Papulosquamous N0000003577 1024350 22585003 Papulosquamous Disorders Papulosquamous Skin Diseases C0162818 C7332 Skin Diseases, Papulosquamous [Disease/Finding] Neuroectodermal Tumors M0026668 D017599 Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. Neuroectodermal Tumors N0000003613 1022212 253096008 73676002 C0206093 C7404 Neuroectodermal Tumors [Disease/Finding] Neuroendocrine Tumors M0027590 D018358 Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition. Neuroendocrine Tumors N0000003804 1024535 255046005 C0206754 C7786 Neuroendocrine Tumors [Disease/Finding] Neurobehavioral Manifestations M0333801 D019954 Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information. Neurobehavioral Manifestations N0000003967 1025867 Cognitive Manifestations Cognitive Symptoms Neurobehavioral Signs and Symptoms Signs and Symptoms, Neurobehavioral C0525041 C8112 Neurobehavioral Manifestations [Disease/Finding] Delirium, Dementia, Amnestic, Cognitive Disorders M0029645 D019965 Cognitive disorders including delirium, dementia, and other cognitive disorders. These may be the result of substance use, trauma, or other causes. Delirium, Dementia, Amnestic, Cognitive Disorders N0000003976 1022574 106014008 111479008 Mental Disorders, Organic Organic Mental Disorders C0029227 C8130 Delirium, Dementia, Amnestic, Cognitive Disorders [Disease/Finding] Substance-Related Disorders M0029657 D019966 Disorders related to substance abuse, the side effects of a medication, or toxin exposure. Substance-Related Disorders N0000003977 1027904 C0236969 C8132 Substance-Related Disorders [Disease/Finding] Alcohol-Related Disorders M0029672 D019973 Disorders related to or resulting from abuse or mis-use of alcohol. Alcohol-Related Disorders N0000003982 1025655 29212009 C0236664 C8142 Alcohol-Related Disorders [Disease/Finding] Coagulation Protein Disorders M0029880 D020147 Hemorrhagic and thrombotic disorders resulting from abnormalities or deficiencies of coagulation proteins. Coagulation Protein Disorders N0000004004 1024212 Blood Coagulation Factor Deficiencies Coagulation Proteins Disorders C0600503 C8186 Coagulation Protein Disorders [Disease/Finding] Neurotoxicity Syndromes M0328313 D020258 Neurologic disorders caused by exposure to toxic substances through ingestion, injection, cutaneous application, or other method. This includes conditions caused by biologic, chemical, and pharmaceutical agents. Neurotoxicity Syndromes N0000004080 985040 19466003 Nervous System Poisoning Neurotoxic Disorders Neurotoxin Diseases Neurotoxin Disorders Poisoning, Nervous System C0235032 C8338 Neurotoxicity Syndromes [Disease/Finding] Alcohol-Induced Disorders, Nervous System M0328091 D020268 Acute and chronic neurologic disorders associated with the various neurologic effects of ETHANOL. Primary sites of injury include the brain and peripheral nerves. Alcohol-Induced Disorders, Nervous System N0000004088 1023561 Alcohol Abuse, Nervous System Ethanol Induced Nervous System Disorders Ethanol-Induced Disorders, Nervous System Ethanol-Induced Nervous System Disorders Ethyl Alcohol Abuse Neurologic Syndromes Nervous System Disorders, Ethanol-Induced C0751865 C8354 Alcohol-Induced Disorders, Nervous System [Disease/Finding] Intracranial Hemorrhages M0328611 D020300 Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces. Intracranial Hemorrhages N0000004102 1026294 1386000 Hemorrhage, Intracranial C0151699 C8382 Intracranial Hemorrhages [Disease/Finding] Alcohol-Induced Disorders M0328025 D020751 Disorders stemming from the misuse and abuse of alcohol. Alcohol-Induced Disorders N0000004170 1025678 C0236970 C8518 Alcohol-Induced Disorders [Disease/Finding] Pathological Conditions, Anatomical M0328642 D020763 An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases. Pathological Conditions, Anatomical N0000004178 1026773 C0752135 C8534 Pathological Conditions, Anatomical [Disease/Finding] Neuromuscular Manifestations M0328296 D020879 Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves. Neuromuscular Manifestations N0000004213 1027972 Neuromuscular Signs and Symptoms Signs and Symptoms, Neuromuscular C0752252 C8604 Neuromuscular Manifestations [Disease/Finding] Discrete Subaortic Stenosis M0001558 D021922 A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. Discrete Subaortic Stenosis N0000004248 1031927 Subaortic Stenosis, Discrete C0012628 C8674 Discrete Subaortic Stenosis [Disease/Finding] basiliximab M0292349 C113157 basiliximab N0000004374 196102 basiliximab C0676831 C11518 basiliximab [Chemical/Ingredient] Carbohydrates M0003360 D002241 The largest class of organic compounds, including STARCH; GLYCOGEN; CELLULOSE; POLYSACCHARIDES; and simple MONOSACCHARIDES. Carbohydrates are composed of carbon, hydrogen, and oxygen in a ratio of Cn(H2O)n. Carbohydrates N0000005723 2028 C0007004 C21790 Carbohydrates [Chemical/Ingredient] Metolazone M0013684 D008788 A quinazoline-sulfonamide that is considered a thiazide-like diuretic which is long-acting so useful in chronic RENAL FAILURE. It also tends to lower BLOOD PRESSURE and increase POTASSIUM loss. Metolazone N0000005746 6916 Metolazone 6-Quinazolinesulfonamide, 7-chloro-1,2,3,4-tetrahydro-2-methyl-3-(2-methylphenyl)-4-oxo- C0025854 C21836 Metolazone [Chemical/Ingredient] Proteins M0017890 D011506 Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein. Proteins N0000005817 8859 Proteins C0033684 C21978 Proteins [Chemical/Ingredient] torsemide M0086132 C026116 torsemide N0000006018 38413 torsemide 1-isopropyl-3-((4-(3-methylphenylamino)pyridine)-3-sulfonyl)urea 1-isopropyl-3-((4-m-toluidino-3-pyridyl)sulfonyl)urea torasemide C0076840 C22380 torsemide [Chemical/Ingredient] Dobutamine M0006696 D004280 A catecholamine derivative with specificity for BETA-1 ADRENERGIC RECEPTORS. It is commonly used as a cardiotonic agent after CARDIAC SURGERY and during DOBUTAMINE STRESS ECHOCARDIOGRAPHY. Dobutamine N0000006055 3616 Dobutamine 1,2-Benzenediol, 4-(2-((3-(4-hydroxyphenyl)-1-methylpropyl)amino)ethyl)-, (+-)- C0012963 C22454 Dobutamine [Chemical/Ingredient] Dopamine M0006756 D004298 One of the catecholamine NEUROTRANSMITTERS in the brain. It is derived from TYROSINE and is the precursor to NOREPINEPHRINE and EPINEPHRINE. Dopamine is a major transmitter in the extrapyramidal system of the brain, and important in regulating movement. A family of receptors (RECEPTORS, DOPAMINE) mediate its action. Dopamine N0000006091 3628 Dopamine 1,2-Benzenediol, 4-(2-aminoethyl)- 3,4-Dihydroxyphenethylamine 4-(2-Aminoethyl)-1,2-benzenediol Hydroxytyramine C0013030 C22526 Dopamine [Chemical/Ingredient] Lipids M0012553 D008055 A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed) Lipids N0000006185 6411 C0023779 C22714 Lipids [Chemical/Ingredient] Vitamin D M0022797 D014807 A vitamin that includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE. Vitamin D N0000006277 11253 Vitamin D C0042866 C22900 Vitamin D [Chemical/Ingredient] Vitamin K M0022806 D014812 A lipid cofactor that is required for normal blood clotting. Several forms of vitamin K have been identified: VITAMIN K 1 (phytomenadione) derived from plants, VITAMIN K 2 (menaquinone) from bacteria, and synthetic naphthoquinone provitamins, VITAMIN K 3 (menadione). Vitamin K 3 provitamins, after being alkylated in vivo, exhibit the antifibrinolytic activity of vitamin K. Green leafy vegetables, liver, cheese, butter, and egg yolk are good sources of vitamin K. Vitamin K N0000006290 11258 Vitamin K C0042878 C22926 Vitamin K [Chemical/Ingredient] Magnesium M0012884 D008274 A metallic element that has the atomic symbol Mg, atomic number 12, and atomic weight 24.31. It is important for the activity of many enzymes, especially those involved in OXIDATIVE PHOSPHORYLATION. Magnesium N0000006335 6574 Magnesium C0024467 C23018 Magnesium [Chemical/Ingredient] Glucose M0009339 D005947 A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. Glucose N0000006402 4850 Glucose D-Glucose Dextrose C0017725 C23152 Glucose [Chemical/Ingredient] Hydrochloric Acid M0010701 D006851 A strong corrosive acid that is commonly used as a laboratory reagent. It is formed by dissolving hydrogen chloride in water. GASTRIC ACID is the hydrochloric acid component of GASTRIC JUICE. Hydrochloric Acid N0000006448 5486 Hydrochloric Acid Hydrochloric acid Muriatic Acid C0020259 C23244 Hydrochloric Acid [Chemical/Ingredient] Calcifediol M0003141 D002112 The major circulating metabolite of VITAMIN D3. It is produced in the LIVER and is the best indicator of the body's vitamin D stores. It is effective in the treatment of RICKETS and OSTEOMALACIA, both in azotemic and non-azotemic patients. Calcifediol also has mineralizing properties. Calcifediol N0000006507 1889 Calcifediol 25-Hydroxycholecalciferol 25-Hydroxyvitamin D 3 25-Hydroxyvitamin D3 9,10-Secocholesta-5,7,10(19)-triene-3,25-diol, (3beta,5Z,7E)- Calcidiol C0006657 C23362 Calcifediol [Chemical/Ingredient] Calcium M0003153 D002118 A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. Calcium N0000006512 1895 Calcium Blood Coagulation Factor IV Coagulation Factor IV Factor IV C0006675 C23372 Calcium [Chemical/Ingredient] Calcium Chloride M0003166 D002122 A salt used to replenish calcium levels, as an acid-producing diuretic, and as an antidote for magnesium poisoning. Calcium Chloride N0000006545 1901 Calcium Chloride Calcium Chloride, Anhydrous Calcium chloride C0006686 C23438 Calcium Chloride [Chemical/Ingredient] Sodium Lactate M0028809 D019354 The sodium salt of racemic or inactive lactic acid. It is a hygroscopic agent used intravenously as a systemic and urinary alkalizer. Sodium Lactate N0000006559 56489 Sodium Lactate C0142874 C23466 Sodium Lactate [Chemical/Ingredient] Lactates M0012155 D007773 Salts or esters of LACTIC ACID containing the general formula CH3CHOHCOOR. Lactates N0000006568 6201 C0022924 C23484 Lactates [Chemical/Ingredient] Atracurium M0001922 D001279 A non-depolarizing neuromuscular blocking agent with short duration of action. Its lack of significant cardiovascular effects and its lack of dependence on good kidney function for elimination provide clinical advantage over alternate non-depolarizing neuromuscular blocking agents. Atracurium N0000006674 1218 Atracurium Isoquinolinium, 2,2'-(1,5-pentanediylbis(oxy(3-oxo-3,1-propanediyl)))bis(1-((3,4-dimethoxyphenyl)methyl))-1,2,3,4-tetrahydro-6,7-dimethoxy-2-methyl- C0004234 C23696 Atracurium [Chemical/Ingredient] Nystatin M0015146 D009761 Macrolide antifungal antibiotic complex produced by Streptomyces noursei, S. aureus, and other Streptomyces species. The biologically active components of the complex are nystatin A1, A2, and A3. Nystatin N0000006699 7597 Nystatin C0028741 C23746 Nystatin [Chemical/Ingredient] Sulbactam M0020733 D013407 A beta-lactamase inhibitor with very weak antibacterial action. The compound prevents antibiotic destruction of beta-lactam antibiotics by inhibiting beta-lactamases, thus extending their spectrum activity. Combinations of sulbactam with beta-lactam antibiotics have been used successfully for the therapy of infections caused by organisms resistant to the antibiotic alone. Sulbactam N0000006841 10167 Sulbactam 4-Thia-1-azabicyclo(3.2.0)heptane-2-carboxylic acid, 3,3-dimethyl-7-oxo-, 4,4-dioxide, (2S-cis)- Penicillanic Acid Sulfone C0038665 C24032 Sulbactam [Chemical/Ingredient] Fatty Acids M0008265 D005227 Organic, monobasic acids derived from hydrocarbons by the equivalent of oxidation of a methyl group to an alcohol, aldehyde, and then acid. Fatty acids are saturated and unsaturated (FATTY ACIDS, UNSATURATED). (Grant & Hackh's Chemical Dictionary, 5th ed) Fatty Acids N0000006847 4297 C0015684 C24044 Fatty Acids [Chemical/Ingredient] Chlorothiazide M0004186 D002740 A thiazide diuretic with actions and uses similar to those of HYDROCHLOROTHIAZIDE. (From Martindale, The Extra Pharmacopoeia, 30th ed, p812) Chlorothiazide N0000006932 2396 Chlorothiazide 2H-1,2,4-Benzothiadiazine-7-sulfonamide, 6-chloro-, 1,1-dioxide C0008273 C24214 Chlorothiazide [Chemical/Ingredient] Cholecalciferol M0004229 D002762 Derivative of 7-dehydroxycholesterol formed by ULTRAVIOLET RAYS breaking of the C9-C10 bond. It differs from ERGOCALCIFEROL in having a single bond between C22 and C23 and lacking a methyl group at C24. Cholecalciferol N0000006996 2418 Cholecalciferol (3 beta,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trien-3-ol 9,10-Secocholesta-5,7,10(19)-trien-3-ol, (3beta,5Z,7E)- Calciol Vitamin D 3 Vitamin D3 C0008318 C24342 Cholecalciferol [Chemical/Ingredient] Foscarnet M0026166 D017245 An antiviral agent used in the treatment of cytomegalovirus retinitis. Foscarnet also shows activity against human herpesviruses and HIV. Foscarnet N0000007166 33562 Foscarnet Phosphinecarboxylic acid, dihydroxy-, oxide Phosphonoformic Acid C0070895 C24684 Foscarnet [Chemical/Ingredient] Magnesium Chloride M0023974 D015636 Magnesium chloride. An inorganic compound consisting of one magnesium and two chloride ions. The compound is used in medicine as a source of magnesium ions, which are essential for many cellular activities. It has also been used as a cathartic and in alloys. Magnesium Chloride N0000007198 6579 Magnesium Chloride Magnesium chloride (MgCl2) MgCl2 C0024472 C24748 Magnesium Chloride [Chemical/Ingredient] Sodium Chloride M0020094 D012965 A ubiquitous sodium salt that is commonly used to season food. It plays an important biological role in maintaining the osmotic tension of blood and tissues. The OSMOLAR CONCENTRATION this and other SALTS accounts for SALINITY which influences the types of organisms that live in an ENVIRONMENT. Sodium Chloride N0000007207 9863 Sodium Chloride Sodium chloride (NaCl) C0037494 C24766 Sodium Chloride [Chemical/Ingredient] Tacrolimus M0025261 D016559 A macrolide isolated from the culture broth of a strain of Streptomyces tsukubaensis that has strong immunosuppressive activity in vivo and prevents the activation of T-lymphocytes in response to antigenic or mitogenic stimulation in vitro. Tacrolimus N0000007302 42316 Tacrolimus 15,19-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone, 5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5,19-dihydroxy-3-(2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl)-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-p C0085149 C24956 Tacrolimus [Chemical/Ingredient] Alkaloids M0000713 D000470 Organic nitrogenous bases. Many alkaloids of medical importance occur in the animal and vegetable kingdoms, and some have been synthesized. (Grant & Hackh's Chemical Dictionary, 5th ed) Alkaloids N0000007503 496 C0002062 C25362 Alkaloids [Chemical/Ingredient] Phenethylamines M0016506 D010627 A group of compounds that are derivatives of beta- aminoethylbenzene which is structurally and pharmacologically related to amphetamine. (From Merck Index, 11th ed) Phenethylamines N0000007526 8127 Phenylethylamines C0031399 C25408 Phenethylamines [Chemical/Ingredient] Macrolides M0028311 D018942 A group of macrocyclic compounds formed by chain extension of multiple PROPIONATES and cyclized into a large (typically 12, 14, 16) membered lactone. They are often glycosylated. Many of them are ANTIBIOTICS. Macrolides N0000007529 586370 C0282563 C25414 Macrolides [Chemical/Ingredient] Anions M0001248 D000838 Negatively charged atoms, radicals or groups of atoms which travel to the anode or positive pole during electrolysis. Anions N0000007541 853 C0003075 C25438 Anions [Chemical/Ingredient] Benzothiadiazines M0002371 D001581 Heterocyclic compounds of a ring with SULFUR and two NITROGEN atoms fused to a BENZENE ring. Members inhibit SODIUM-POTASSIUM-CHLORIDE SYMPORTERS and are used as DIURETICS. Benzothiadiazines N0000007554 1414 C0005084 C25464 Benzothiadiazines [Chemical/Ingredient] Biogenic Monoamines M0023566 D015306 Biogenic amines having only one amine moiety. Included in this group are all natural monoamines formed by the enzymatic decarboxylation of natural amino acids. Biogenic Monoamines N0000007586 1565 Monoamines, Biogenic C0005497 C25528 Biogenic Monoamines [Chemical/Ingredient] Hexoses M0010338 D006601 Hexoses N0000007604 5318 C0019494 C25568 Hexoses [Chemical/Ingredient] Quinazolines M0018336 D011799 Quinazolines N0000007605 9064 C0034407 C25570 Quinazolines [Chemical/Ingredient] Globulins M0009293 D005916 Globulins N0000007615 4825 C0017649 C25590 Globulins [Chemical/Ingredient] Acids M0000220 D000143 Chemical compounds which yield hydrogen ions or protons when dissolved in water, whose hydrogen can be replaced by metals or basic radicals, or which react with bases to form salts and water (neutralization). An extension of the term includes substances dissolved in media other than water. (Grant & Hackh's Chemical Dictionary, 5th ed) Acids N0000007626 230 C0001128 C25612 Acids [Chemical/Ingredient] Acids, Acyclic M0000221 D000144 Carboxylic acids that have open-chain molecular structures as opposed to ring-shaped structures. Acids, Acyclic N0000007627 231 Acyclic Acids C0001129 C25614 Acids, Acyclic [Chemical/Ingredient] Acids, Noncarboxylic M0000225 D000148 Inorganic acids with a non metal, other than carbon, attached to hydrogen, or an acid radical containing no carbon. Acids, Noncarboxylic N0000007630 235 Noncarboxylic Acids C0001133 C25620 Acids, Noncarboxylic [Chemical/Ingredient] Lactams M0012143 D007769 Cyclic AMIDES formed from aminocarboxylic acids by the elimination of water. Lactims are the enol forms of lactams. Lactams N0000007642 6195 C0022914 C25644 Lactams [Chemical/Ingredient] Lactones M0012175 D007783 Cyclic esters of hydroxy carboxylic acids, containing a 1-oxacycloalkan-2-one structure. Large cyclic lactones of over a dozen atoms are MACROLIDES. Lactones N0000007646 6209 C0022947 C25652 Lactones [Chemical/Ingredient] Organic Chemicals M0015401 D009930 A broad class of substances containing carbon and its derivatives. Many of these chemicals will frequently contain hydrogen with or without oxygen, nitrogen, sulfur, phosphorus, and other elements. They exist in either carbon chain or carbon ring form. Organic Chemicals N0000007676 7692 C0029224 C25712 Organic Chemicals [Chemical/Ingredient] Amides M0000897 D000577 Organic compounds containing the -CO-NH2 radical. Amides are derived from acids by replacement of -OH by -NH2 or from ammonia by the replacement of H by an acyl group. (From Grant & Hackh's Chemical Dictionary, 5th ed) Amides N0000007681 633 C0002482 C25722 Amides [Chemical/Ingredient] Organophosphorus Compounds M0015421 D009943 Organic compounds that contain phosphorus as an integral part of the molecule. Included under this heading is broad array of synthetic compounds that are used as PESTICIDES and DRUGS. Organophosphorus Compounds N0000007684 7696 C0029254 C25728 Organophosphorus Compounds [Chemical/Ingredient] Phosphorus Acids M0027146 D017976 Inorganic acids that contain phosphorus as an integral part of the molecule. Phosphorus Acids N0000007696 67101 C0206451 C25752 Phosphorus Acids [Chemical/Ingredient] Chlorides M0004143 D002712 Inorganic compounds derived from hydrochloric acid that contain the Cl- ion. Chlorides N0000007711 2364 C0008203 C25782 Chlorides [Chemical/Ingredient] Catecholamines M0003647 D002395 A general class of ortho-dihydroxyphenylalkylamines derived from tyrosine. Catecholamines N0000007715 2146 Sympathins C0007412 C25790 Catecholamines [Chemical/Ingredient] Steroids M0020527 D013256 A group of polycyclic compounds closely related biochemically to TERPENES. They include cholesterol, numerous hormones, precursors of certain vitamins, bile acids, alcohols (STEROLS), and certain natural drugs and poisons. Steroids have a common nucleus, a fused, reduced 17-carbon atom ring system, cyclopentanoperhydrophenanthrene. Most steroids also have two methyl groups and an aliphatic side-chain attached to the nucleus. (From Hawley's Condensed Chemical Dictionary, 11th ed) Steroids N0000007720 10072 C0038317 C25800 Steroids [Chemical/Ingredient] Phosphonoacetic Acid M0016688 D010746 A simple organophosphorus compound that inhibits DNA polymerase, especially in viruses and is used as an antiviral agent. Phosphonoacetic Acid N0000007721 8250 Acetic acid, phosphono- Phosphonacetic Acid C0031681 C25802 Phosphonoacetic Acid [Chemical/Ingredient] Biogenic Amines M0002518 D001679 A group of naturally occurring amines derived by enzymatic decarboxylation of the natural amino acids. Many have powerful physiological effects (e.g., histamine, serotonin, epinephrine, tyramine). Those derived from aromatic amino acids, and also their synthetic analogs (e.g., amphetamine), are of use in pharmacology. Biogenic Amines N0000007726 1564 Amines, Biogenic Biogenic Amine C0005496 C25812 Biogenic Amines [Chemical/Ingredient] Sterols M0020532 D013261 Steroids with a hydroxyl group at C-3 and most of the skeleton of cholestane. Additional carbon atoms may be present in the side chain. (IUPAC Steroid Nomenclature, 1987) Sterols N0000007730 10077 C0038323 C25820 Sterols [Chemical/Ingredient] Cholestenes M0004266 D002782 Steroids with methyl groups at C-10 and C-13 and a branched 8-carbon chain at C-17. Members include compounds with any degree of unsaturation; however, CHOLESTADIENES is available for derivatives containing two double bonds. Cholestenes N0000007759 2436 C0008375 C25878 Cholestenes [Chemical/Ingredient] Chlorine Compounds M0026679 D017606 Inorganic compounds that contain chlorine as an integral part of the molecule. Chlorine Compounds N0000007794 67167 Chlorine Compounds, Inorganic C0206759 C25948 Chlorine Compounds [Chemical/Ingredient] Calcium Compounds M0026683 D017610 Inorganic compounds that contain calcium as an integral part of the molecule. Calcium Compounds N0000007800 66999 C0206106 C25960 Calcium Compounds [Chemical/Ingredient] Magnesium Compounds M0026689 D017616 Inorganic compounds that contain magnesium as an integral part of the molecule. Magnesium Compounds N0000007803 67004 C0206112 C25966 Magnesium Compounds [Chemical/Ingredient] Naphthalenes M0014459 D009281 Two-ring crystalline hydrocarbons isolated from coal tar. They are used as intermediates in chemical synthesis, as insect repellents, fungicides, lubricants, preservatives, and, formerly, as topical antiseptics. Naphthalenes N0000007809 7251 C0027378 C25978 Naphthalenes [Chemical/Ingredient] Bicyclo Compounds, Heterocyclic M0028488 D019086 A class of saturated compounds consisting of two rings only, having two or more atoms in common, containing at least one hetero atom, and that take the name of an open chain hydrocarbon containing the same total number of atoms. (From Riguady et al., Nomenclature of Organic Chemistry, 1979, p31) Bicyclo Compounds, Heterocyclic N0000007813 82186 Bicyclic Heterocyclic Compounds Heterocyclic Bicyclo Compounds Heterocyclic Cpds, Bicyclic C0282650 C25986 Bicyclo Compounds, Heterocyclic [Chemical/Ingredient] Naphthoquinones M0014463 D009285 Naphthalene rings which contain two ketone moieties in any position. They can be substituted in any position except at the ketone groups. Naphthoquinones N0000007814 7255 Naphthalenediones C0027388 C25988 Naphthoquinones [Chemical/Ingredient] Membrane Lipids M0013338 D008563 Lipids, predominantly phospholipids, cholesterol and small amounts of glycolipids found in membranes including cellular and intracellular membranes. These lipids may be arranged in bilayers in the membranes with integral proteins between the layers and peripheral proteins attached to the outside. Membrane lipids are required for active transport, several enzymatic activities and membrane formation. Membrane Lipids N0000007818 6723 Cell Membrane Lipids C0025249 C25996 Membrane Lipids [Chemical/Ingredient] Amino Acids, Peptides, and Proteins M0000928 D000602 Amino acids and chains of amino acids connected by peptide linkages. Amino Acids, Peptides, and Proteins N0000007833 664 C0002526 C26026 Amino Acids, Peptides, and Proteins [Chemical/Ingredient] Sodium Compounds M0026726 D017670 Inorganic compounds that contain sodium as an integral part of the molecule. Sodium Compounds N0000007844 67017 C0206134 C26048 Sodium Compounds [Chemical/Ingredient] Peptides M0016238 D010455 Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are linear polypeptides that are normally synthesized on RIBOSOMES. Peptides N0000007874 8036 C0030956 C26108 Peptides [Chemical/Ingredient] Glycosides M0009500 D006027 Any compound that contains a constituent sugar, in which the hydroxyl group attached to the first carbon is substituted by an alcoholic, phenolic, or other group. They are named specifically for the sugar contained, such as glucoside (glucose), pentoside (pentose), fructoside (fructose), etc. Upon hydrolysis, a sugar and nonsugar component (aglycone) are formed. (From Dorland, 28th ed; From Miall's Dictionary of Chemistry, 5th ed) Glycosides N0000007897 4958 C0017977 C26154 Glycosides [Chemical/Ingredient] Elements M0007227 D004602 Substances that comprise all matter. Each element is made up of atoms that are identical in number of electrons and protons and in nuclear charge, but may differ in mass or number of neutrons. Elements N0000007912 3802 C0013879 C26186 Elements [Chemical/Ingredient] Blood Coagulation Factors M0002684 D001779 Endogenous substances, usually proteins, that are involved in the blood coagulation process. Blood Coagulation Factors N0000007914 1637 Blood Coagulation Factor Coagulation Factor Coagulation Factor, Blood Coagulation Factors Coagulation Factors, Blood Factor, Coagulation Factors, Coagulation C0005789 C26190 Blood Coagulation Factors [Chemical/Ingredient] Secosteroids M0019588 D012632 Steroids in which fission of one or more ring structures and concomitant addition of a hydrogen atom at each terminal group has occurred. Secosteroids N0000007915 9626 C0036532 C26192 Secosteroids [Chemical/Ingredient] Immunoglobulins M0011122 D007136 Multi-subunit proteins which function in IMMUNITY. They are produced by B LYMPHOCYTES from the IMMUNOGLOBULIN GENES. They are comprised of two heavy (IMMUNOGLOBULIN HEAVY CHAINS) and two light chains (IMMUNOGLOBULIN LIGHT CHAINS) with additional ancillary polypeptide chains depending on their isoforms. The variety of isoforms include monomeric or polymeric forms, and transmembrane forms (B-CELL ANTIGEN RECEPTORS) or secreted forms (ANTIBODIES). They are divided by the amino acid sequence of their heavy chains into five classes (IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M) and various subclasses. Immunoglobulins N0000007920 5720 Immunoglobulins Globulins, Immune Immune Globulins Immunoglobulin C0021027 C26202 Immunoglobulins [Chemical/Ingredient] Blood Proteins M0002710 D001798 Proteins that are present in blood serum, including SERUM ALBUMIN; BLOOD COAGULATION FACTORS; and many other types of proteins. Blood Proteins N0000007921 1653 C0005832 C26204 Blood Proteins [Chemical/Ingredient] Terpenes M0021183 D013729 A class of compounds composed of repeating 5-carbon units of HEMITERPENES. Terpenes N0000007940 10372 Terpenoids C0039561 C26242 Terpenes [Chemical/Ingredient] Recombinant Proteins M0018641 D011994 Proteins prepared by recombinant DNA technology. Recombinant Proteins N0000007956 9218 Biosynthetic Proteins Proteins, Biosynthetic C0034861 C26276 Recombinant Proteins [Chemical/Ingredient] Isoquinolines M0011785 D007546 A group of compounds with the heterocyclic ring structure of benzo(c)pyridine. The ring structure is characteristic of the group of opium alkaloids such as papaverine. (From Stedman, 25th ed) Isoquinolines N0000007960 6056 C0022248 C26284 Isoquinolines [Chemical/Ingredient] Hydrocarbons M0010687 D006838 Hydrocarbons N0000007973 5476 C0020242 C26310 Hydrocarbons [Chemical/Ingredient] Hydroxy Acids M0010745 D006880 Organic compounds containing both the hydroxyl and carboxyl radicals. Hydroxy Acids N0000007983 5515 C0020317 C26330 Hydroxy Acids [Chemical/Ingredient] Hydroxycholecalciferols M0010754 D006887 Hydroxy analogs of vitamin D 3; (CHOLECALCIFEROL); including CALCIFEDIOL; CALCITRIOL; and 24,25-DIHYDROXYVITAMIN D 3. Hydroxycholecalciferols N0000007988 5522 Hydroxycholecalciferol Hydroxyvitamins D C0020337 C26340 Hydroxycholecalciferols [Chemical/Ingredient] Metals, Alkaline Earth M0013518 D008673 Metals that constitute the group 2 (formerly group IIa) of the periodic table. Metals, Alkaline Earth N0000007992 6800 Alkaline Earth Metals Group 2 Elements C0025555 C26348 Metals, Alkaline Earth [Chemical/Ingredient] Metals, Light M0029055 D019565 Metals with low specific gravity, typically smaller than 5, characterized by a single valence (1, 2, or 3), a simple spectrum, strong electromotive force (positive), and colorless compounds. (From Grant & Hackh's Chemical Dictionary, 5th ed) Metals, Light N0000008004 114297 Light Metals C0376709 C26372 Metals, Light [Chemical/Ingredient] Ethylamines M0007897 D005021 Ethylamines N0000008011 4146 C0015069 C26386 Ethylamines [Chemical/Ingredient] Sulfites M0020784 D013447 Inorganic salts of sulfurous acid. Sulfites N0000008046 10211 Inorganic Sulfites Sulfites, Inorganic C0038750 C26456 Sulfites [Chemical/Ingredient] Sulfonamides M0020790 D013449 A group of compounds that contain the structure SO2NH2. Members of this group, also known as sulfa drugs, are derivatives of sulfanilamide, which competitively inhibit folic acid synthesis in microorganisms, and are bacteriostatic. They have been largely supplanted by more effective and less toxic antibiotics. (From Dorland, 28th ed) Sulfonamides N0000008048 10215 C0038760 C26460 Sulfonamides [Chemical/Ingredient] Sulfones M0020791 D013450 Sulfones N0000008053 10216 C0038761 C26470 Sulfones [Chemical/Ingredient] Heterocyclic Compounds M0010290 D006571 Ring compounds having atoms other than carbon in their nuclei. (Grant & Hackh's Chemical Dictionary, 5th ed) Heterocyclic Compounds N0000008095 5283 C0019398 C26554 Heterocyclic Compounds [Chemical/Ingredient] Acetic Acids M0000132 D000088 Acetic acid and its derivatives which may be formed by substitution reactions. Mono- and di-substituted, as well as halogenated compounds have been synthesized. Acetic Acids N0000008114 169 C0000985 C26592 Acetic Acids [Chemical/Ingredient] Carboxylic Acids M0003405 D002264 Organic compounds containing the carboxy group (-COOH). This group of compounds includes amino acids and fatty acids. Carboxylic acids can be saturated, unsaturated, or aromatic. Carboxylic Acids N0000008137 2060 C0007066 C26638 Carboxylic Acids [Chemical/Ingredient] Bridged Compounds M0002922 D001952 Cyclic hydrocarbons that contain multiple rings and share one or more atoms. Bridged Compounds N0000008149 1740 C0006174 C26662 Bridged Compounds [Chemical/Ingredient] Phosphorus Compounds M0026614 D017553 Inorganic compounds that contain phosphorus as an integral part of the molecule. Phosphorus Compounds N0000008156 67164 C0206756 C26676 Phosphorus Compounds [Chemical/Ingredient] Polycyclic Hydrocarbons, Aromatic M0017164 D011084 A major group of unsaturated cyclic hydrocarbons containing two or more rings. The vast number of compounds of this important group, derived chiefly from petroleum and coal tar, are rather highly reactive and chemically versatile. The name is due to the strong and not unpleasant odor characteristic of most substances of this nature. (From Hawley's Condensed Chemical Dictionary, 12th ed, p96) Polycyclic Hydrocarbons, Aromatic N0000008164 8504 Polycyclic Aromatic Hydrocarbons Polynuclear Aromatic Hydrocarbons C0032458 C26692 Polycyclic Hydrocarbons, Aromatic [Chemical/Ingredient] Amines M0000913 D000588 A group of compounds derived from ammonia by substituting organic radicals for the hydrogens. (From Grant & Hackh's Chemical Dictionary, 5th ed) Amines N0000008168 823705 C0002508 C26700 Amines [Chemical/Ingredient] Bicyclo Compounds M0002469 D001643 Bicyclo Compounds N0000008171 1530 C0005378 C26706 Bicyclo Compounds [Chemical/Ingredient] Fatty Acids, Volatile M0008273 D005232 Short-chain fatty acids of up to six carbon atoms in length. They are the major end products of microbial fermentation in the ruminant digestive tract and have also been implicated in the causation of neurological diseases in humans. Fatty Acids, Volatile N0000008176 4303 Fatty Acids, Short-Chain C0015691 C26716 Fatty Acids, Volatile [Chemical/Ingredient] Phosphonic Acids M0016684 D010745 Inorganic or organic derivatives of phosphonic acid with the general formula ROP(OH)2 or RP(=O)(OH)2. The tautomeric form of this compound (P(OH)3) is PHOSPHOROUS ACIDS. Nucleoside phosphonates have a phosphate-carbon bond that is more resistant to enzymatic cleavage than the normal phosphate-oxygen bond. Phosphonic Acids N0000008178 8248 C0031679 C26720 Phosphonic Acids [Chemical/Ingredient] Quinones M0018356 D011809 Hydrocarbon rings which contain two ketone moieties in any position. They can be substituted in any position except at the ketone groups. Quinones N0000008181 9083 C0034435 C26726 Quinones [Chemical/Ingredient] Cholestanes M0004254 D002776 Derivatives of the saturated steroid cholestane with methyl groups at C-18 and C-19 and an iso-octyl side chain at C-17. Cholestanes N0000008187 2432 C0008366 C26738 Cholestanes [Chemical/Ingredient] Ions M0011678 D007477 An atom or group of atoms that have a positive or negative electric charge due to a gain (negative charge) or loss (positive charge) of one or more electrons. Atoms with a positive charge are known as CATIONS; those with a negative charge are ANIONS. Ions N0000008197 5964 C0022023 C26758 Ions [Chemical/Ingredient] Diterpenes M0006609 D004224 Twenty-carbon compounds derived from MEVALONIC ACID or deoxyxylulose phosphate. Diterpenes N0000008216 3557 Diterpenoids C0012780 C26796 Diterpenes [Chemical/Ingredient] Immunoglobulin Fragments M0011106 D007128 Partial immunoglobulin molecules resulting from selective cleavage by proteolytic enzymes or generated through PROTEIN ENGINEERING techniques. Immunoglobulin Fragments N0000008221 5710 C0021009 C26806 Immunoglobulin Fragments [Chemical/Ingredient] Immunoproteins M0011167 D007162 Blood proteins whose activities affect or play a role in the functioning of the immune system. Immunoproteins N0000008223 5744 C0021072 C26810 Immunoproteins [Chemical/Ingredient] Hydrocarbons, Aromatic M0010690 D006841 Organic compounds containing carbon and hydrogen in the form of an unsaturated, usually hexagonal ring structure. The compounds can be single ring, or double, triple, or multiple fused rings. Hydrocarbons, Aromatic N0000008229 5479 Aromatic Hydrocarbons C0020245 C26822 Hydrocarbons, Aromatic [Chemical/Ingredient] Metals M0013515 D008670 Electropositive chemical elements characterized by ductility, malleability, luster, and conductance of heat and electricity. They can replace the hydrogen of an acid and form bases with hydroxyl radicals. (Grant & Hackh's Chemical Dictionary, 5th ed) Metals N0000008237 6797 C0025552 C26838 Metals [Chemical/Ingredient] Serum Globulins M0019698 D012712 All blood proteins except albumin ( = SERUM ALBUMIN, which is not a globulin) and FIBRINOGEN (which is not in the serum). The serum globulins are subdivided into ALPHA-GLOBULINS; BETA-GLOBULINS; and GAMMA-GLOBULINS on the basis of their electrophoretic mobilities. (From Dorland, 28th ed) Serum Globulins N0000008244 9701 C0036800 C26852 Serum Globulins [Chemical/Ingredient] Sulfur Compounds M0020800 D013457 Inorganic or organic compounds that contain sulfur as an integral part of the molecule. Sulfur Compounds N0000008249 10225 C0038776 C26862 Sulfur Compounds [Chemical/Ingredient] Monosaccharides M0014043 D009005 Simple sugars, carbohydrates which cannot be decomposed by hydrolysis. They are colorless crystalline substances with a sweet taste and have the same general formula CnH2nOn. (From Dorland, 28th ed) Monosaccharides N0000008250 7044 C0026492 C26864 Monosaccharides [Chemical/Ingredient] Inorganic Chemicals M0011365 D007287 A broad class of substances encompassing all those that do not include carbon and its derivatives as their principal elements. However, carbides, carbonates, cyanides, cyanates, and carbon disulfide are included in this class. Inorganic Chemicals N0000008257 5824 C0021521 C26878 Inorganic Chemicals [Chemical/Ingredient] Heterocyclic Compounds, Bridged-Ring M0010291 D006572 A class of organic compounds which contain two rings that share a pair of bridgehead carbon atoms. Heterocyclic Compounds, Bridged-Ring N0000008258 5288 Bridged-Ring Heterocyclic Compounds C0019403 C26880 Heterocyclic Compounds, Bridged-Ring [Chemical/Ingredient] Heterocyclic Compounds, 1-Ring M0010292 D006573 A class of organic compounds containing a ring structure made up of more than one kind of atom, usually carbon plus another atom. The ring structure can be aromatic or nonaromatic. Heterocyclic Compounds, 1-Ring N0000008259 5284 Heterocyclic Cpds, 1-Ring C0019399 C26882 Heterocyclic Compounds, 1-Ring [Chemical/Ingredient] Heterocyclic Compounds, 2-Ring M0010293 D006574 A class of organic compounds containing two ring structures, one of which is made up of more than one kind of atom, usually carbon plus another atom. The heterocycle may be either aromatic or nonaromatic. Heterocyclic Compounds, 2-Ring N0000008260 5285 C0019400 C26884 Heterocyclic Compounds, 2-Ring [Chemical/Ingredient] Electrolytes M0007189 D004573 Substances that dissociate into two or more ions, to some extent, in water. Solutions of electrolytes thus conduct an electric current and can be decomposed by it (ELECTROLYSIS). (Grant & Hackh's Chemical Dictionary, 5th ed) Electrolytes N0000008272 3793 C0013832 C26910 Electrolytes [Chemical/Ingredient] Hydrocarbons, Cyclic M0010694 D006844 Organic compounds composed exclusively of carbon and hydrogen forming a closed ring that may be either alicyclic or aromatic. Hydrocarbons, Cyclic N0000008280 5482 Cyclic Hydrocarbons C0020248 C26926 Hydrocarbons, Cyclic [Chemical/Ingredient] Alveolar Surface Tension Alteration N0000008293 989276 C1371276 C26952 Alveolar Surface Tension Alteration [PE] Alveolar Surface Tension Reduction N0000008294 988631 C1371492 C26954 Alveolar Surface Tension Reduction [PE] Arterial Vasoconstriction N0000008298 986283 C1371490 C26962 Arterial Vasoconstriction [PE] Arterial Vasodilation N0000008299 984618 C1371278 C26964 Arterial Vasodilation [PE] Blood & Lymphatic Fluid Function Alteration N0000008307 988284 C1371289 C26980 Blood & Lymphatic Fluid Function Alteration [PE] Carbohydrate Metabolism Alteration N0000008327 1033881 C1371294 C27020 Carbohydrate Metabolism Alteration [PE] Cardiac Contractility Alteration N0000008328 986415 C1371293 C27022 Cardiac Contractility Alteration [PE] Cardiac Rate Alteration N0000008329 985479 C2825066 C27024 Cardiac Rate Alteration [PE] Cardiovascular Activity Alteration N0000008331 988145 C1371291 C27028 Cardiovascular Activity Alteration [PE] Cell Wall Alteration N0000008336 989278 C1371484 C27038 Cell Wall Alteration [PE] Cellular Activity Alteration N0000008337 985006 C1371483 C27040 Cellular Activity Alteration [PE] Cellular Cycle Alteration N0000008339 990947 C1371481 C27044 Cellular Cycle Alteration [PE] Cellular Growth Phase Alteration N0000008343 987428 C1371477 C27052 Cellular Growth Phase Alteration [PE] Cellular Growth Phase Arrest N0000008344 986074 C1371476 C27054 Cellular Growth Phase Arrest [PE] Cellular Structure Alteration N0000008346 990421 C1371474 C27058 Cellular Structure Alteration [PE] Cellular Synthetic Activity Alteration N0000008347 989470 C1371473 C27060 Cellular Synthetic Activity Alteration [PE] Coagulation Factor Activity Alteration N0000008362 985279 C1371467 C27090 Coagulation Factor Activity Alteration [PE] Coagulation Factor Alteration N0000008363 1027093 C1371466 C27092 Coagulation Factor Alteration [PE] DNA Replication Alteration N0000008380 985410 C1371458 C27126 DNA Replication Alteration [PE] Decreased Cell Wall Integrity N0000008478 985663 C1371351 C27322 Decreased Cell Wall Integrity [PE] Decreased Cytokine Activity N0000008571 989703 C1371548 C27508 Decreased Cytokine Activity [PE] Decreased Cytokine Production N0000008573 984977 C1371550 C27512 Decreased Cytokine Production [PE] Decreased DNA Replication N0000008577 989476 C1371554 C27520 Decreased DNA Replication [PE] Decreased Hematopoiesis N0000008656 989826 C2825067 C27678 Decreased Hematopoiesis [PE] Decreased Immunologically Active Molecule Activity N0000008663 988758 C1371672 C27692 Decreased Immunologically Active Molecule Activity [PE] Decreased Immunologically Active Molecule Production N0000008665 987036 C1371674 C27696 Decreased Immunologically Active Molecule Production [PE] Decreased Intravascular Volume N0000008669 988730 C1371678 C27704 Decreased Intravascular Volume [PE] Decreased Lymphocyte Cell Production N0000008699 990429 C1371707 C27764 Decreased Lymphocyte Cell Production [PE] Decreased Protein Synthesis N0000008841 987293 C1371848 C28048 Decreased Protein Synthesis [PE] Decreased Respiratory Secretion Viscosity N0000008867 990251 C1371874 C28100 Decreased Respiratory Secretion Viscosity [PE] Decreased Striated Muscle Contraction N0000008953 987443 C1371959 C28272 Decreased Striated Muscle Contraction [PE] Decreased T Lymphocyte Production N0000008998 986572 C1372004 C28362 Decreased T Lymphocyte Production [PE] Electrical Activity Alteration N0000009027 985119 C1372033 C28420 Electrical Activity Alteration [PE] Generalized Systemic Effects N0000009057 990172 C1372062 C28480 Generalized Systemic Effects [PE] Glycogen Metabolism Alteration N0000009064 988106 C1372068 C28494 Glycogen Metabolism Alteration [PE] Hematologic Activity Alteration N0000009065 986633 C1372069 C28496 Hematologic Activity Alteration [PE] Hematological Cell Quantity Alteration N0000009067 989409 C1372071 C28500 Hematological Cell Quantity Alteration [PE] Hematopoiesis Alteration N0000009068 988943 C1372072 C28502 Hematopoiesis Alteration [PE] Hemic/Lymphatic Activity Alteration N0000009069 990696 C1372073 C28504 Hemic/Lymphatic Activity Alteration [PE] Hemostasis Alteration N0000009070 989781 C1372074 C28506 Hemostasis Alteration [PE] Immunologic Activity Alteration N0000009073 990814 C1372077 C28512 Immunologic Activity Alteration [PE] Immunologically Active Molecule Activity Alteration N0000009074 985286 C1372078 C28514 Immunologically Active Molecule Activity Alteration [PE] Immunologically Active Molecule Production Alteration N0000009076 989133 C1372080 C28518 Immunologically Active Molecule Production Alteration [PE] Increased Cardiac Muscle Organized Electrical Activity N0000009168 985492 C1372172 C28702 Increased Cardiac Muscle Organized Electrical Activity [PE] Increased Coagulation Factor Activity N0000009252 985543 C1372256 C28870 Increased Coagulation Factor Activity [PE] Increased Distal Tubule H+ Excretion N0000009275 989312 C1372279 C28916 Increased Distal Tubule H+ Excretion [PE] Increased Distal Tubule K+ Excretion N0000009277 984847 C1372281 C28920 Increased Distal Tubule K+ Excretion [PE] Increased Distal Tubule Na+ Excretion N0000009279 987639 C1372283 C28924 Increased Distal Tubule Na+ Excretion [PE] Increased Glycogenesis N0000009344 985903 C1372346 C29054 Increased Glycogenesis [PE] Increased Intravascular Volume N0000009361 990010 C1372361 C29088 Increased Intravascular Volume [PE] Increased Loop of Henle Ca++ Excretion N0000009381 987937 C1372380 C29128 Increased Loop of Henle Ca++ Excretion [PE] Increased Loop of Henle Cl- Excretion N0000009382 985500 C1372381 C29130 Increased Loop of Henle Cl- Excretion [PE] Increased Loop of Henle K+ Excretion N0000009385 985338 C1372384 C29136 Increased Loop of Henle K+ Excretion [PE] Increased Loop of Henle Mg++ Excretion N0000009386 985552 C1372385 C29138 Increased Loop of Henle Mg++ Excretion [PE] Increased Loop of Henle Na+ Excretion N0000009387 984850 C1372386 C29140 Increased Loop of Henle Na+ Excretion [PE] Increased Metabolic Rate N0000009399 1031046 C1372398 C29164 Increased Metabolic Rate [PE] Increased Muscular System Organized Electrical Activity N0000009446 989860 C1372445 C29258 Increased Muscular System Organized Electrical Activity [PE] Increased Organized Electrical Activity N0000009460 985295 C1372459 C29286 Increased Organized Electrical Activity [PE] Increased Renal Ca++ Excretion N0000009546 988359 C1372544 C29458 Increased Renal Ca++ Excretion [PE] Increased Renal Cl- Excretion N0000009547 988578 C1372545 C29460 Increased Renal Cl- Excretion [PE] Increased Renal H+ Excretion N0000009548 989634 C1372546 C29462 Increased Renal H+ Excretion [PE] Increased Renal HCO3- Excretion N0000009549 986592 C1372547 C29464 Increased Renal HCO3- Excretion [PE] Increased Renal Ion Excretion N0000009550 989861 C1372548 C29466 Increased Renal Ion Excretion [PE] Increased Renal K+ Excretion N0000009551 986593 C1372549 C29468 Increased Renal K+ Excretion [PE] Increased Renal Mg++ Excretion N0000009552 989592 C1372550 C29470 Increased Renal Mg++ Excretion [PE] Increased Renal Na+ Excretion N0000009553 986790 C1372551 C29472 Increased Renal Na+ Excretion [PE] Intravascular Volume Alteration N0000009732 987907 C1372729 C29830 Intravascular Volume Alteration [PE] Metabolic Activity Alteration N0000009748 990190 C1372744 C29862 Metabolic Activity Alteration [PE] Metabolic Rate Alteration N0000009749 986653 C1372745 C29864 Metabolic Rate Alteration [PE] Musculoskeletal Activity Alteration N0000009755 985711 C1372751 C29876 Musculoskeletal Activity Alteration [PE] Nervous System Activity Alteration N0000009759 987311 C2916815 C29884 Nervous System Activity Alteration [PE] Nucleic Acid Replication Alteration N0000009766 989424 C1372762 C29898 Nucleic Acid Replication Alteration [PE] Organ System Specific Effects N0000009770 985923 C1372766 C29906 Organ System Specific Effects [PE] Organic Ion Metabolism Alteration N0000009772 987655 C1372768 C29910 Organic Ion Metabolism Alteration [PE] Organic Ion Synthesis Alteration N0000009773 988791 C1372769 C29912 Organic Ion Synthesis Alteration [PE] Organized Electrical Activity Alteration N0000009774 988792 C1372770 C29914 Organized Electrical Activity Alteration [PE] Physiological Effects N0000009802 984490 C1372798 C29970 Physiological Effects [PE] Positive Chronotropy N0000009808 987259 C1372804 C29982 Positive Chronotropy [PE] Positive Inotropy N0000009809 989869 C1372805 C29984 Positive Inotropy [PE] Renal Arterial Vasodilation N0000009826 988963 C1372857 C30018 Renal Arterial Vasodilation [PE] Renal Ion Transport Alteration N0000009830 984183 C1372861 C30026 Renal Ion Transport Alteration [PE] Renal/Urological Activity Alteration N0000009832 988191 C1372863 C30030 Renal/Urological Activity Alteration [PE] Respiratory Secretion Alteration N0000009836 984707 C1372867 C30038 Respiratory Secretion Alteration [PE] Respiratory Secretion Viscosity Alteration N0000009837 986604 C1372868 C30040 Respiratory Secretion Viscosity Alteration [PE] Respiratory/Pulmonary Activity Alteration N0000009839 987910 C1372870 C30044 Respiratory/Pulmonary Activity Alteration [PE] Striated Muscle Metabolic Alteration N0000009876 984454 C2916793 C30118 Striated Muscle Metabolic Alteration [PE] Striated Muscle Anabolism Alteration N0000009877 989427 C1372908 C30120 Striated Muscle Anabolism Alteration [PE] Striated Muscle Contraction Alteration N0000009879 984654 C1372910 C30124 Striated Muscle Contraction Alteration [PE] Translation Alteration N0000009894 984492 C1372925 C30154 Translation Alteration [PE] Vascular Tone Alteration N0000009906 987659 C1372937 C30178 Vascular Tone Alteration [PE] Vasoconstriction N0000009908 1022844 C0042396 C30182 Vasoconstriction [PE] Vasodilation N0000009909 1021984 C0042401 C30184 Vasodilation [PE] Unknown Cellular or Molecular Interaction N0000009915 990716 C1373108 C30196 Unknown Cellular or Molecular Interaction [MoA] Adrenergic beta1-Agonists N0000009921 988194 C1373135 C30208 Adrenergic beta1-Agonists [MoA] Systemic Arterial Vasoconstriction N0000009941 988324 C1372835 C30250 Systemic Arterial Vasoconstriction [PE] Sterol Synthesis Inhibitors N0000009956 988794 C1373112 C30280 Sterol Synthesis Inhibitors [MoA] Ergosterol Synthesis Inhibitors N0000009957 989198 C1373130 C30282 Ergosterol Synthesis Inhibitors [MoA] RxNorm Dose Forms N0000010010 987323 C2267212 C30528 Dose Forms [Dose Form] Pregnancy N0000010195 1022794 289908002 C0032961 C31746 Pregnancy [Disease/Finding] Physiologic States N0000010197 989040 C2916830 C31750 Physiologic States [Disease/Finding] Antibody Interactions N0000010226 987958 C2916825 C31810 Antibody Interactions [MoA] Interleukin 2 Receptor Interactions N0000010278 984934 IL2 Receptor Interactions C1373153 C31914 Interleukin 2 Receptor Interactions [MoA] Interleukin 2 Receptor Antagonists N0000010279 986467 IL2 Receptor Antagonists IL2 Receptor Blockers IL2 Receptor Inhibitors Interleukin 2 Receptor Blockers Interleukin 2 Receptor Inhibitors C1373152 C31916 Interleukin 2 Receptor Antagonists [MoA] Drug Products by VA Class N0000010574 985512 C2267083 C281072 Drug Products by VA Class Drug Products by Generic Ingredient Combinations N0000010582 987399 C2267084 C288626 Drug Products by Generic Ingredient Combinations B [Preparations] N0000010584 987472 C2267086 C288628 B [Preparations] C [Preparations] N0000010585 987820 C2267087 C288629 C [Preparations] D [Preparations] N0000010586 990856 C2267088 C288630 D [Preparations] E [Preparations] N0000010587 984666 C2267089 C288631 E [Preparations] F [Preparations] N0000010588 986610 C2267090 C288632 F [Preparations] G [Preparations] N0000010589 986405 C2267091 C288633 G [Preparations] M [Preparations] N0000010595 989499 C2267095 C288639 M [Preparations] N [Preparations] N0000010596 984993 C2267096 C288640 N [Preparations] S [Preparations] N0000010601 985848 C2267101 C288645 S [Preparations] T [Preparations] N0000010602 989806 C2267102 C288646 T [Preparations] V [Preparations] N0000010604 984196 C2267104 C288648 V [Preparations] Blood Coagulation Disorders, Inherited M0376236 D025861 Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. Blood Coagulation Disorders, Inherited N0000010965 1028383 Coagulation Disorders, Inherited Hereditary Blood Coagulation Disorders Hereditary Coagulation Disorders Inherited Blood Coagulation Disorders Inherited Coagulation Disorders C0852077 C291318 Blood Coagulation Disorders, Inherited [Disease/Finding] Malnutrition M0015121 D044342 An imbalanced nutritional status resulted from insufficient intake of nutrients to meet normal physiological requirement. Malnutrition N0000011099 1021991 65404009 70241007 Nutritional Deficiency Undernutrition C0162429 C291452 Malnutrition [Disease/Finding] Genetic Diseases, Inborn M0385531 D030342 Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. Genetic Diseases, Inborn N0000011105 1025368 Inborn Genetic Diseases C0950123 C291458 Genetic Diseases, Inborn [Disease/Finding] Glucose Metabolism Disorders M0446458 D044882 Pathological conditions in which the BLOOD GLUCOSE cannot be maintained within the normal range, such as in HYPOGLYCEMIA and HYPERGLYCEMIA. Etiology of these disorders varies. Plasma glucose concentration is critical to survival for it is the predominant fuel for the CENTRAL NERVOUS SYSTEM. Glucose Metabolism Disorders N0000011123 989730 126877002 Glucose Metabolic Disorder Glucose Metabolic Disorders Glucose Metabolism Disorder C1257958 C291476 Glucose Metabolism Disorders [Disease/Finding] beta-Lactams M0012144 D047090 Four-membered cyclic AMIDES, best known for the PENICILLINS based on a bicyclo-thiazolidine, as well as the CEPHALOSPORINS based on a bicyclo-thiazine, and including monocyclic MONOBACTAMS. The BETA-LACTAMASES hydrolyze the beta lactam ring, accounting for BETA-LACTAM RESISTANCE of infective bacteria. beta-Lactams N0000011162 82034 C0282215 C291518 beta-Lactams [Chemical/Ingredient] Antibodies, Monoclonal M0001357 D000911 Antibodies produced by a single clone of cells. Antibodies, Monoclonal N0000011174 911 Monoclonal Antibodies C0003250 C291530 Antibodies, Monoclonal [Chemical/Ingredient] Antibodies M0001352 D000906 Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS). Antibodies N0000011175 904 C0003241 C291531 Antibodies [Chemical/Ingredient] Recombinant Fusion Proteins M0018640 D011993 Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes. Recombinant Fusion Proteins N0000011180 9217 Fusion Proteins, Recombinant C0034857 C291536 Recombinant Fusion Proteins [Chemical/Ingredient] Penicillins M0016152 D010406 A group of antibiotics that contain 6-aminopenicillanic acid with a side chain attached to the 6-amino group. The penicillin nucleus is the chief structural requirement for biological activity. The side-chain structure determines many of the antibacterial and pharmacological characteristics. (Goodman and Gilman's The Pharmacological Basis of Therapeutics, 8th ed, p1065) Penicillins N0000011281 7986 Antibiotics, Penicillin C0030842 C291637 Penicillins [Chemical/Ingredient] Biological Factors M0002530 D001685 Endogenously-synthesized compounds that may influence biological phenomena or represent quantifiable biomarkers. Biological factors are a variety of extracellular substances that are not otherwise classified under ENZYMES; HORMONES or HORMONE ANTAGONISTS Biological Factors N0000011290 1570 Biologic Factors Biological Factor Factor, Biologic Factor, Biological Factors, Biological C0005515 C291646 Biological Factors [Chemical/Ingredient] Aza Compounds M0002056 D001372 Aza Compounds N0000011324 1249 C0004471 C291680 Aza Compounds [Chemical/Ingredient] Phytol M0016825 D010836 Phytol N0000011327 8306 2-Hexadecen-1-ol, 3,7,11,15-tetramethyl-, (R-(R*,R*-(E)))- C0031860 C291683 Phytol [Chemical/Ingredient] Macrocyclic Compounds M0456185 D047028 Cyclic compounds with a ring size of approximately 1-4 dozen atoms. Macrocyclic Compounds N0000011330 469970 Macrocycle Compounds C1449665 C291686 Macrocyclic Compounds [Chemical/Ingredient] Polycyclic Compounds M0017162 D011083 Compounds consisting of two or more fused ring structures. Polycyclic Compounds N0000011331 8502 C0032456 C291687 Polycyclic Compounds [Chemical/Ingredient] Benzylisoquinolines M0444533 D044182 ISOQUINOLINES with a benzyl substituent. Benzylisoquinolines N0000011356 382269 Benzyl-Isoquinolines C1257875 C291712 Benzylisoquinolines [Chemical/Ingredient] cisatracurium M0415709 C101584 cisatracurium N0000011420 319864 Cisatracurium C1096766 C291777 cisatracurium [Chemical/Ingredient] Peptide Fragments M0016224 D010446 Partial proteins formed by partial hydrolysis of complete proteins or generated through PROTEIN ENGINEERING techniques. Peptide Fragments N0000011457 8027 C0030935 C291814 Peptide Fragments [Chemical/Ingredient] Vascular Alterations N0000020002 984378 C2267116 C300387 Vascular Alterations [PE] Cellular Growth Phase Reduction N0000020013 986120 C2267126 C300398 Cellular Growth Phase Reduction [PE] Polysaccharide Metabolism Alteration N0000020040 986121 C2267149 C300430 Polysaccharide Metabolism Alteration [PE] CALCIFEDIOL Ingredient N0000020410 1889 Calcifediol Active C0006657 <VANDF_Record>50.6^831^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>831</VA_IEN> 4022405 C288945 CALCIFEDIOL DEXTROSE/PERITONEAL DIALYSIS SOLUTION Ingredient N0000020502 690658 Active C1875006 <VANDF_Record>50.6^1029^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>1029</VA_IEN> 4022497 C289035 DEXTROSE/PERITONEAL DIALYSIS SOLUTION DIGOXIN IMMUNE FAB Ingredient N0000021229 203223 digoxin antibodies Fab fragments Active C0700607 <VANDF_Record>50.6^2146^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>2146</VA_IEN> 4023224 C13774 DIGOXIN IMMUNE FAB CISATRACURIUM Ingredient N0000022024 319864 Cisatracurium Active C1096766 <VANDF_Record>50.6^3337^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>3337</VA_IEN> 4024019 C12888 CISATRACURIUM AM000 NOTE: Combination products containing two or more active ingredients from the same subclassification are classified in that subclassification (e.g.,triple sulfas in AM650). Products containing two or more active ingredients from different subclassifications are classified under "anti-infectives, other" (e.g., tetracycline and amphotericin B (AM900). Products containing probenecid or clavulanic acid are classified under the subclassification of the antimicrobial agent. Beta-lactam antibiotics not classified under penicillins or cephalosporins are classified (AM130). Excludes topical anti-infectives (DE100), topical anti- infective/anti-inflammatory combinations (DE250), ophthalmic anti-infectives (OP200), ophthalmic anti- infective/anti-inflammatory combinations (OP350), otic anti-infectives (OT100), otic anti-infective/anti- inflammatory combinations (OT250); vaginal anti- infectives (GU300). ANTIMICROBIALS VA Class N0000029074 337867 Active C1136254 <VANDF_Record>50.605^9^</VANDF_Record><VA_File>50.605</VA_File><VA_IEN>9</VA_IEN> 4021521 C8716 [AM000] ANTIMICROBIALS AM700 ANTIFUNGALS VA Class N0000029088 938 Antifungal Agents Active C0003308 <VANDF_Record>50.605^24^</VANDF_Record><VA_File>50.605</VA_File><VA_IEN>24</VA_IEN> 4021535 C8758 [AM700] ANTIFUNGALS IR000 NOTE: Excludes 50% dimethyl sulfoxide (GU900). IRRIGATION/DIALYSIS SOLUTIONS VA Class N0000029202 691815 Active C1875396 <VANDF_Record>50.605^148^</VANDF_Record><VA_File>50.605</VA_File><VA_IEN>148</VA_IEN> 4021649 C9166 [IR000] IRRIGATION/DIALYSIS SOLUTIONS IR200 PERITONEAL DIALYSIS SOLUTIONS VA Class N0000029204 103997 Active C0353714 <VANDF_Record>50.605^150^</VANDF_Record><VA_File>50.605</VA_File><VA_IEN>150</VA_IEN> 4021651 C9170 [IR200] PERITONEAL DIALYSIS SOLUTIONS Injectable Solution N0000135717 316949 Injectable Solution C0991511 C30468 Injectable Solution [Dose Form] Intraperitoneal Solution N0000135721 316951 Intraperitoneal Solution C0991513 C30472 Intraperitoneal Solution [Dose Form] Liquid N0000135726 90230 Liquid C1697794 C30406 Liquid [Dose Form] Oral Suspension N0000135760 316969 Oral Suspension C0991537 C30516 Oral Suspension [Dose Form] Orderable Drug Form N0000135762 316970 Orderable Drug Form C0991538 C30518 Orderable Drug Form [Dose Form] Solution N0000135783 450530 Solution C1382100 C30372 Solution [Dose Form] Suspension N0000135787 10269 Suspension C0038960 C30376 Suspension [Dose Form] SODIUM CHLORIDE 451W47IQ8X Ingredient N0000145832 9863 Sodium Chloride Active C0037494 <VANDF_Record>50.416^35^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>35</VA_IEN> <VANDF_Record>50.6^42^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>42</VA_IEN> 4017444 C19958 SODIUM CHLORIDE NYSTATIN BDF1O1C72E Ingredient N0000145961 7597 Nystatin Active C0028741 <VANDF_Record>50.416^173^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>173</VA_IEN> <VANDF_Record>50.6^84^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>84</VA_IEN> 4017580 C17778 NYSTATIN CALCIUM SY7Q814VUP Ingredient N0000146031 1895 Calcium Active C0006675 <VANDF_Record>50.416^247^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>247</VA_IEN> <VANDF_Record>50.6^2120^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>2120</VA_IEN> 4017652 C12018 CALCIUM MAGNESIUM Ingredient N0000146038 6574 Magnesium Active C0024467 <VANDF_Record>50.416^1298^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>1298</VA_IEN> <VANDF_Record>50.416^255^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>255</VA_IEN> <VANDF_Record>50.6^2113^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>2113</VA_IEN> 4017660 C16682 MAGNESIUM CHOLECALCIFEROL 1C6V77QF41 Ingredient N0000146043 2418 Cholecalciferol Active C0008318 <VANDF_Record>50.416^262^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>262</VA_IEN> <VANDF_Record>50.6^2967^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>2967</VA_IEN> 4017667 C12772 CHOLECALCIFEROL CHLOROTHIAZIDE 77W477J15H Ingredient N0000146099 2396 Chlorothiazide Active C0008273 <VANDF_Record>50.416^326^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>326</VA_IEN> <VANDF_Record>50.6^128^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>128</VA_IEN> 4017731 C12722 CHLOROTHIAZIDE DEXTROSE IY9XDZ35W2 Ingredient N0000146124 4850 Glucose Active C0017725 <VANDF_Record>50.416^355^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>355</VA_IEN> <VANDF_Record>50.6^535^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>535</VA_IEN> 4017760 C13652 DEXTROSE CALCIUM CHLORIDE M4I0D6VV5M Ingredient N0000146424 1901 Calcium Chloride Active C0006686 <VANDF_Record>50.416^682^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>682</VA_IEN> <VANDF_Record>50.6^405^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>405</VA_IEN> 4018085 C12048 CALCIUM CHLORIDE METOLAZONE TZ7V40X7VX Ingredient N0000146498 6916 Metolazone Active C0025854 <VANDF_Record>50.416^758^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>758</VA_IEN> <VANDF_Record>50.6^481^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>481</VA_IEN> 4018161 C17234 METOLAZONE MAGNESIUM CHLORIDE 02F3473H9O Ingredient N0000146546 6579 Magnesium Chloride Active C0024472 <VANDF_Record>50.416^810^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>810</VA_IEN> <VANDF_Record>50.6^1464^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>1464</VA_IEN> 4018213 C16702 MAGNESIUM CHLORIDE DOPAMINE HYDROCHLORIDE 7L3E358N9L Ingredient N0000146968 82010 Dopamine Hydrochloride Active C0282151 <VANDF_Record>50.416^1257^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>1257</VA_IEN> 4018656 C14014 DOPAMINE HYDROCHLORIDE SODIUM LACTATE TU7HW0W0QT Ingredient N0000147000 56489 Sodium Lactate Active C0142874 <VANDF_Record>50.416^1292^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>1292</VA_IEN> <VANDF_Record>50.6^1011^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>1011</VA_IEN> 4018691 C20002 SODIUM LACTATE VITAMIN K Ingredient N0000147258 11258 Vitamin K Active C0042878 <VANDF_Record>50.416^1586^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>1586</VA_IEN> <VANDF_Record>50.6^4606^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>4606</VA_IEN> 4018981 C21516 VITAMIN K DIGOXIN IMMUNE FAB (OVINE) Ingredient N0000147621 203223 digoxin antibodies Fab fragments Active C0700607 <VANDF_Record>50.416^2115^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>2115</VA_IEN> 4019501 C13778 DIGOXIN IMMUNE FAB (OVINE) GLUCOSE IY9XDZ35W2 Ingredient N0000147647 4850 Glucose Active C0017725 <VANDF_Record>50.416^2156^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>2156</VA_IEN> <VANDF_Record>50.6^2205^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>2205</VA_IEN> 4019541 C15102 GLUCOSE DOBUTAMINE 3S12J47372 Ingredient N0000147822 3616 Dobutamine Active C0012963 <VANDF_Record>50.416^2349^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>2349</VA_IEN> <VANDF_Record>50.6^77^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>77</VA_IEN> 4019730 C13966 DOBUTAMINE DOPAMINE VTD58H1Z2X Ingredient N0000147825 3628 Dopamine Active C0013030 <VANDF_Record>50.416^2352^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>2352</VA_IEN> <VANDF_Record>50.6^981^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>981</VA_IEN> 4019733 C14012 DOPAMINE SULBACTAM S4TF6I2330 Ingredient N0000148022 10167 Sulbactam Active C0038665 <VANDF_Record>50.416^2562^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>2562</VA_IEN> 4019937 C20432 SULBACTAM FOSCARNET 364P9RVW4X Ingredient N0000148246 33562 Foscarnet Active C0070895 <VANDF_Record>50.416^3175^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>3175</VA_IEN> <VANDF_Record>50.6^2700^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>2700</VA_IEN> 4020530 C14900 FOSCARNET TORSEMIDE W31X2H97FB Ingredient N0000148359 38413 torsemide Active C0076840 <VANDF_Record>50.416^3507^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>3507</VA_IEN> <VANDF_Record>50.6^3182^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>3182</VA_IEN> 4020851 C21024 TORSEMIDE TACROLIMUS WM0HAQ4WNM Ingredient N0000148372 42316 Tacrolimus Active C0085149 <VANDF_Record>50.416^3525^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>3525</VA_IEN> <VANDF_Record>50.6^3228^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>3228</VA_IEN> 4020868 C20568 TACROLIMUS CISATRACURIUM BESYLATE 80YS8O1MBS Ingredient N0000148433 136561 cisatracurium besylate Active C0530105 <VANDF_Record>50.416^3623^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>3623</VA_IEN> 4020957 C12890 CISATRACURIUM BESYLATE BASILIXIMAB 9927MT646M Ingredient N0000148568 196102 basiliximab Active C0676831 <VANDF_Record>50.416^3784^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>3784</VA_IEN> <VANDF_Record>50.6^3509^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>3509</VA_IEN> 4021113 C11516 BASILIXIMAB Thiazides M0471776 D049971 Heterocyclic compounds with SULFUR and NITROGEN in the ring. This term commonly refers to the BENZOTHIADIAZINES that inhibit SODIUM-POTASSIUM-CHLORIDE SYMPORTERS and are used as DIURETICS. Thiazides N0000166469 141801 C0541746 C7757382887769 Thiazides [Chemical/Ingredient] Immunoglobulin Fab Fragments M0011126 D007140 Univalent antigen-binding fragments composed of one entire IMMUNOGLOBULIN LIGHT CHAIN and the amino terminal end of one of the IMMUNOGLOBULIN HEAVY CHAINS from the hinge region, linked to each other by disulfide bonds. Fab contains the IMMUNOGLOBULIN VARIABLE REGIONS, which are part of the antigen-binding site, and the first IMMUNOGLOBULIN CONSTANT REGIONS. This fragment can be obtained by digestion of immunoglobulins with the proteolytic enzyme PAPAIN. Immunoglobulin Fab Fragments N0000169389 5724 Fab Fragments Fab Immunoglobulin Fragments Immunoglobulin Fab Fragment Immunoglobulins, Fab Immunoglobulins, Fab Fragment C0021031 C7761971851729 Immunoglobulin Fab Fragments [Chemical/Ingredient] Renal Insufficiency M0480487 D051437 Conditions in which the KIDNEYS perform below the normal level in the ability to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. Renal insufficiency can be classified by the degree of kidney damage (as measured by the level of PROTEINURIA) and reduction in GLOMERULAR FILTRATION RATE. Renal Insufficiency N0000171642 1026620 Kidney Insufficiency C1565489 C7769506319378 Renal Insufficiency [Disease/Finding] Renal Insufficiency, Chronic M0480472 D051436 Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002) Renal Insufficiency, Chronic N0000171643 1025359 236425005 Chronic Kidney Insufficiency Chronic Renal Insufficiency Kidney Insufficiency, Chronic C0403447 C7769506596229 Renal Insufficiency, Chronic [Disease/Finding] Quinazolinones M0490629 D052999 Chemicals with two conjoined aromatic rings incorporating two nitrogen atoms and one of the carbons oxidized with a keto oxygen. Quinazolinones N0000175104 657853 C1720912 C25677206981334 Quinazolinones [Chemical/Ingredient] Diuresis Alteration N0000175358 990564 C2266869 C634741 Diuresis Alteration [PE] Increased Diuresis N0000175359 985593 Diuretic Activity C2266870 C634742 Increased Diuresis [PE] Increased Diuresis at Loop of Henle N0000175366 985088 C2266877 C634749 Increased Diuresis at Loop of Henle [PE] Cholinergic Interactions N0000175368 987379 C2266879 C634751 Cholinergic Interactions [MoA] Cholinergic Antagonists N0000175370 1030384 C2757022 C634753 Cholinergic Antagonists [MoA] Decreased Immunologic Activity N0000175550 989722 Immune Suppression Immune System Suppression Immunologic Suppression Immunosuppression C1373218 C634943 Decreased Immunologic Activity [PE] Competitive Cholinergic Nicotinic Antagonists N0000175703 991928 C2917208 C635109 Competitive Cholinergic Nicotinic Antagonists [MoA] Cholinergic Neuromuscular Nicotinic Antagonists N0000175718 991927 C2917207 C635124 Cholinergic Neuromuscular Nicotinic Antagonists [MoA] Coagulation Activity Alteration N0000175977 991697 C2917139 C635431 Coagulation Activity Alteration [PE] Increased Coagulation Activity N0000175979 992037 Pro-coagulation Pro-coagulation Activity Procoagulation Procoagulation Activity C2917275 C635433 Increased Coagulation Activity [PE] ECULIZUMAB A3ULP0F556 Ingredient N0000176091 591781 eculizumab Active C1541483 <VANDF_Record>50.416^4452^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>4452</VA_IEN> <VANDF_Record>50.6^4236^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>4236</VA_IEN> 4026032 C50.416.4452 ECULIZUMAB Blood Pressure Alteration N0000178476 991626 C2917124 C637932 Blood Pressure Alteration [PE] Decreased Blood Pressure N0000178477 991700 C2917141 C637933 Decreased Blood Pressure [PE] Azabicyclo Compounds M0499252 D053961 Bicyclic bridged compounds that contain a nitrogen which has three bonds. The nomenclature indicates the number of atoms in each path around the rings, such as [2.2.2] for three equal length paths. Some members are TROPANES and BETA LACTAMS. Azabicyclo Compounds N0000178749 737880 C1955840 CMSHM0499252 Azabicyclo Compounds [Chemical/Ingredient] Dopamine Hydrochloride M0006757 D004298 Dopamine Hydrochloride N0000179412 82010 Dopamine Hydrochloride C0282151 CMSHM0006757 Dopamine Hydrochloride [Chemical/Ingredient] digoxin antibodies Fab fragments M0143483 C050199 digoxin antibodies Fab fragments N0000179656 203223 digoxin antibodies Fab fragments digoxin immune Fab C0700607 CMSHM0143483 digoxin antibodies Fab fragments [Chemical/Ingredient] eculizumab M0461005 C481642 eculizumab N0000179786 591781 eculizumab C1541483 CMSHM0461005 eculizumab [Chemical/Ingredient] Nephrolithiasis M0476604 D053040 Formation of stones in the KIDNEY. Nephrolithiasis N0000181137 1026053 C0392525 CMSHM0476604 Nephrolithiasis [Disease/Finding] Urolithiasis M0022363 D052878 Formation of stones in any part of the URINARY TRACT, usually in the KIDNEY; URINARY BLADDER; or the URETER. Urolithiasis N0000181149 1025826 Urinary Lithiasis C0451641 CMSHM0022363 Urolithiasis [Disease/Finding] Female Urogenital Diseases M0489295 D052776 Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). Female Urogenital Diseases N0000181236 1024696 Female Genitourinary Diseases C1720887 CMSHM0489295 Female Urogenital Diseases [Disease/Finding] Acute Kidney Injury M0541307 D058186 Abrupt reduction in kidney function defined as an absolute increase in serum CREATININE of more than or equal to 0.3. mg/dl, a percentage increase in serum creatinine of more than or equal to 50%, or a reduction in urine output. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions. Acute Kidney Injury N0000182224 1085890 Acute Renal Injury C2609414 CMSHM0541307 Acute Kidney Injury [Disease/Finding] BELATACEPT Ingredient N0000182970 1148754 Active <VANDF_Record>50.416^4763^</VANDF_Record><VA_File>50.416</VA_File><VA_IEN>4763</VA_IEN> <VANDF_Record>50.6^4654^</VANDF_Record><VA_File>50.6</VA_File><VA_IEN>4654</VA_IEN> 4030905 C50.416^4763^ BELATACEPT RIT1 CNNM2 CFB SALL1 SCNN1B SCNN1G SDCCAG8 BMPR2 SGPL1 SIX5 SLC12A1 SLC12A3 BRAF SLC2A2 BRCA2 SLC34A1 SLC35A1 SLC4A1 SLC4A4 SLC5A2 SLC9A3R1 SMARCAL1 SOS1 SOS2 SOX18 TBX18 CEP55 HNF1B TFE3 THBD TP53 TREX1 TRPC6 TSC1 TSHR UMOD VPS33B WT1 XDH XRCC2 C3 ARL6 NEK8 NPHS2 SLC2A9 IFT122 ADAMTS13 CA2 ANLN WNK1 WNK4 AMN DNAJB11 PIGT CAV1 SETBP1 FCGR2C IFT52 TP63 CD151 MAGED2 TRIM32 NLRP3 BSND ACTN4 SCARB2 ZNF423 PUF60 PLCE1 SARS2 DACT1 TRAF3IP1 INVS CEP83 SLC22A12 TRPM6 DCDC2 MOCOS SEC61A1 WDR19 HPSE2 CECR CENPF IFT27 NUP205 CRB2 BBS7 MMAA MAGI2 CORIN COQ8B NPHP4 KIF14 MMAB CHRM3 EIF2AK4 KIAA0586 TTC8 CLCN5 COQ6 CLCNKB CLDN10 VIPAS39 CLDN16 CLDN19 BRIP1 FANCL LRIG2 DSE ADCY10 IFT74 POU6F2 DYNC2I1 COL4A1 COL4A3 COL4A5 COPA PEX26 FAM20A SLC16A12 ALG8 FREM1 CREBBP STOX1 INF2 SLX4 B9D1 CHST14 DYNC2LI1 CFHR5 UBE2T TMEM216 HOGA1 CTNS CUBN CUL3 FANCI TTC21B OFD1 TCTN2 CYP11B1 CYP24A1 PALB2 BBS10 DZIP1L BBS12 CEP120 ANKS6 FLCN SLC6A19 WDPCP XPNPEP3 BBIP1 DYNC2I2 TMEM67 GLIS3 DGKE DHCR7 B9D2 DIS3L2 IQCB1 NUP93 CEP290 DSTYK IFT140 RPGRIP1L FAN1 CEP164 ERGIC1 WDR35 CC2D2A IFT80 KANK2 GLIS2 MAPKBP1 DNASE1L3 IFT43 NUP107 BBS9 IFT172 EGF EHHADH ELN EMP2 EP300 AGXT ERCC4 FAH FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FGF20 FGFR3 FIBP TMEM231 FN1 FXYD2 G6PC1 SLC37A4 GALE GALK1 GALT GANAB ALDOB GATA3 GDF1 ALMS1 GLA GLI3 GNAS GPC3 GRHPR H19 HAAO HBB CFH HNF4A HPRT1 HSD11B2 CFI ABCC6 APOE ITGA3 JAG1 KCNJ1 KCNJ10 APRT KCNK3 AQP2 KLHL3 KRAS MAFB KYNU LAMB2 LBR LCAT LMX1B LZTFL1 LZTR1 MAD2L2 SMAD9 ARHGDIA CD46 MEFV MKKS MKS1 MME MTR MUC1 MMUT MYH9 MYO1E NEK1 NEU1 NF1 NODAL NOTCH2 NPHP1 NPHP3 NPHS1 NR3C2 NRAS OCRL ATP6V1B1 PAX2 PAX4 ATP6V0A4 ATP7B PDE3A PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX3 PEX6 PEX7 AVP SERPINA1 PIGA AVPR2 PKD1 PKD2 PKHD1 PRPS1 PTEN PTPN11 BBS1 BBS2 PTPRO BBS4 BBS5 PEX19 PEX2 PEX5 RAD51 RAD51C RAF1 REN REST entity 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 continuant 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. 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 continuant occurrent 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) (if (Occurrent x) (exists (r) (and (SpatioTemporalRegion r) (occupiesSpatioTemporalRegion x r))))) // axiom label in BFO2 CLIF: [108-001] (forall (x) (iff (Occurrent x) (and (Entity x) (exists (y) (temporalPartOf y x))))) // axiom label in BFO2 CLIF: [079-001] occurrent 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 A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything. 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] A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything. independent continuant true true 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 true true 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 (r) (if (TemporalRegion r) (occupiesTemporalRegion r r))) // axiom label in BFO2 CLIF: [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 true true 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 process 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] An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. process process 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 endocitosis and exocitosis 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 [89 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 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 A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances. 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 quality 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] bfo BFO:0000019 quality quality sdc SpecificallyDependentContinuant specifically dependent continuant 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. 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 relational specifically dependent continuant = Def. b is a specifically dependent continuant and there are n &gt; 1 independent continuants c1, … cn which are not spatial regions are such that for all 1 i &lt; j n, ci and cj share no common parts, are such that for each 1 i n, b s-depends_on ci at every time t during the course of b’s existence (axiom label in BFO2 Reference: [131-004]) 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 (RelationalSpecificallyDependentContinuant a) (and (SpecificallyDependentContinuant a) (forall (t) (exists (b c) (and (not (SpatialRegion b)) (not (SpatialRegion c)) (not (= b c)) (not (exists (d) (and (continuantPartOfAt d b t) (continuantPartOfAt d c t)))) (specificallyDependsOnAt a b t) (specificallyDependsOnAt a c t)))))) // axiom label in BFO2 CLIF: [131-004] (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] 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. specifically dependent continuant 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 A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts. 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 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 fiat object part 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 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 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 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]) bfo BFO:0000030 object object 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. A continuant that is dependent on one or other independent continuant bearers. For every instance of A requires some instance of (an independent continuant type) B but which instance of B serves can change from time to time. 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] A continuant that is dependent on one or other independent continuant bearers. For every instance of A requires some instance of (an independent continuant type) B but which instance of B serves can change from time to time. generically dependent continuant 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 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 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 material MaterialEntity material entity 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 An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time. 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] bfo BFO:0000040 material entity material entity 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 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 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 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 anatomical entity connected anatomical structure material anatomical entity immaterial anatomical entity multi-cell-part structure neuron projection bundle Material anatomical entity that is a member of an individual species or is a viral or viroid particle. organism or virus or viroid multicellular anatomical structure biological entity Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. KEGG:C05359 Wikipedia:Electron electron Elektron beta beta(-) beta-particle e e(-) e- negatron CHEBI:10545 electron A carbohydrate acid derivative anion obtained by deprotonation of the carboxy groups of hyaluronic acid; major species at pH 7.3. hyaluronan hyaluronate polyanion CHEBI:132153 hyaluronate A cardiovascular drug that tends to raise reduced blood pressure. Wikipedia:Antihypotensive_agent chebi_ontology antihypotensive agents pressor pressors vasopressor agens vasopressor agent CHEBI:137431 antihypotensive agent Any compound that can disrupt the functions of the endocrine (hormone) system endocrine disrupting chemical endocrine disrupting chemicals endocrine disrupting compound endocrine disrupting compounds endocrine disruptors endocrine-disrupting chemical endocrine-disrupting chemicals hormonally active agent hormonally active agents endocrine disruptor Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). Wikipedia:https://en.wikipedia.org/wiki/Gas gas molecular entities gaseous molecular entities gaseous molecular entity CHEBI:138675 gas molecular entity carbamate Carbamat Karbamat carbamate ion carbamic acid, ion(1-) CHEBI:13941 carbamate An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. alpha-hydroxy ketones alpha-hydroxy-ketone alpha-hydroxy-ketones alpha-hydroxyketone alpha-hydroxyketones alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. tertiary alpha-hydroxy ketones tertiary alpha-hydroxy-ketone tertiary alpha-hydroxy-ketones tertiary alpha-hydroxyketone tertiary alpha-hydroxyketones tertiary alpha-hydroxy ketone a tetracycline a tetracycline zwittterion A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity. CHEBI:13699 CHEBI:2377 KEGG:C00028 KEGG:C16722 Acceptor A Akzeptor Hydrogen-acceptor Oxidized donor accepteur CHEBI:15339 acceptor A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. Primary alcohol 1-Alcohol a primary alcohol primary alcohols primary alcohol A peptide containing ten or more amino acid residues. CHEBI:14860 CHEBI:8314 KEGG:C00403 Polypeptide polypeptides Polypeptid polipeptido CHEBI:15841 polypeptide An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms. CHEBI:13405 CHEBI:13406 CHEBI:13407 CHEBI:13771 CHEBI:22533 CHEBI:44269 CHEBI:44284 CHEBI:44404 CHEBI:7434 HMDB:HMDB0000051 KEGG:C00014 KEGG:D02916 KNApSAcK:C00007267 MetaCyc:AMMONIA MolBase:930 PDBeChem:NH3 Wikipedia:Ammonia AMMONIA Ammonia ammonia azane Ammoniak NH3 R-717 [NH3] ammoniac amoniaco spirit of hartshorn CHEBI:16134 ammonia A mucopolysaccharide composed of N-acetylglucosamine and glucuronic acid subunits. It is found in the connective tissues of vertebrates. A principal constituent of the extracellular matrix (ECM), it mediates the growth and metastasis of tumour cells. CHEBI:14412 CHEBI:24622 CHEBI:24623 CHEBI:5772 HMDB:HMDB0010366 KEGG:C00518 KEGG:D08043 KEGG:G10505 Wikipedia:Hyaluronan Hyaluronic acid Hyaluronsaeure [beta-D-glucopyranuronosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)]n [beta-N-Acetyl-D-glucosaminyl(1,4)beta-D-glucuronosyl(1,3)]n acide hyaluronique acido hialuronico hyaluronan CHEBI:16336 hyaluronic acid A naturally occurring polypeptide synthesized at the ribosome. CHEBI:8526 KEGG:C00017 Protein a protein polypeptide chain protein polypeptide chains CHEBI:16541 protein polypeptide chain Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates. CHEBI:15131 CHEBI:23008 CHEBI:9318 Wikipedia:Carbohydrate carbohydrate carbohydrates Kohlenhydrat Kohlenhydrate a carbohydrate carbohidrato carbohidratos glucide glucides glucido glucidos hydrates de carbone saccharide saccharides saccharidum CHEBI:16646 carbohydrate peptide Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc. CHEBI:14753 CHEBI:25906 CHEBI:7990 KEGG:C00012 Peptide peptides Peptid peptido peptidos CHEBI:16670 peptide Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001. glycans CHEBI:167559 glycan An aldehyde resulting from the formal oxidation of methanol. 0 CH2O InChI=1S/CH2O/c1-2/h1H2 WSFSSNUMVMOOMR-UHFFFAOYSA-N 30.02598 30.01056 [H]C([H])=O CHEBI:14274 CHEBI:24077 CHEBI:337763 CHEBI:5142 Beilstein:1209228 CAS:50-00-0 DrugBank:DB03843 Drug_Central:3244 Gmelin:445 HMDB:HMDB0001426 KEGG:C00067 KEGG:D00017 MetaCyc:FORMALDEHYDE PDBeChem:FOR PMID:110589 PMID:12686735 PMID:15091529 PMID:16423181 PMID:17618393 PMID:18837732 PMID:25042713 PMID:7381846 PMID:7548723 PMID:7689168 PMID:7896413 PMID:9686972 PPDB:359 Reaxys:1209228 UM-BBD_compID:c0122 Wikipedia:Formaldehyde FORMALDEHYDE Formaldehyde formaldehyde chebi_ontology FORMALIN Formaldehyd Formalin Methanal Methylene oxide Oxomethane Oxomethylene CHEBI:16842 formaldehyde A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H). Ketone ketones Keton R-CO-R' a ketone cetone ketones ketone Any member of the group of substituted penams containing two methyl substituents at position 2, a carboxylate substituent at position 3 and a carboxamido group at position 6. 0 C9H11N2O4SR 243.26000 243.04395 [H][C@]12SC(C)(C)[C@@H](N1C(=O)[C@H]2NC([*])=O)C(O)=O CHEBI:14742 CHEBI:25869 CHEBI:7961 CiteXplore:12833570 CiteXplore:1502708 CiteXplore:16033609 CiteXplore:7798534 KEGG COMPOUND:C00395 KEGG:C00395 PMID:11851248 PMID:12833570 PMID:1502708 PMID:16033609 PMID:7061385 PMID:7798534 Wikipedia:Penicillin Penicillin penicillin penicillins chebi_ontology C9H11N2O4SR [H][C@]12SC(C)(C)[C@@H](N1C(=O)[C@H]2NC([*])=O)C(O)=O penicillins CHEBI:17334 penicillin A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity. CHEBI:14202 CHEBI:4697 KEGG:C01351 Donor Donator donneur CHEBI:17891 donor 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. Lipid lipids lipid Any polysaccharide containing a substantial proportion of aminomonosaccharide residues. CHEBI:14361 CHEBI:24398 CHEBI:5495 KEGG:C02545 Wikipedia:Glycosaminoglycan Glycosaminoglycan glycosaminoglycan Glykosaminoglykan glicosaminoglicano glycosaminoglycane glycosaminoglycans CHEBI:18085 glycosaminoglycan A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues. CHEBI:14864 CHEBI:26205 CHEBI:8322 KEGG:C00420 Polysaccharide polysaccharides Glycan Glycane Glykan Glykane glycans polisacarido polisacaridos CHEBI:18154 polysaccharide An iron group element atom that has atomic number 26. iron 26Fe Eisen Fe Iron fer ferrum hierro iron iron atom An organic group formed by removing one or more hydroxy groups from an oxoacid that has the general structure RkE(=O)l(OH)m (l =/= 0). Although the term is almost always applied to organic compounds, with carboxylic acid as the oxoacid, acyl groups can in principle be derived from other types of acids such as sulfonic acids or phosphonic acids. acyl group alkanoyl acyl groups alkanoyl group groupe acyle CHEBI:22221 acyl group alkaline earth metals Erdalkalimetall Erdalkalimetalle alkaline earth metal alkaline-earth metal alkaline-earth metals metal alcalino-terreux metal alcalinoterreo metales alcalinoterreos metaux alcalino-terreux CHEBI:22313 alkaline earth metal atom aminoglycans CHEBI:22506 aminoglycan A monoatomic or polyatomic species having one or more elementary charges of the electron. Anion anion Anionen aniones anions CHEBI:22563 anion A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base). KEGG:C00701 Base base Base1 Base2 Basen Nucleobase bases CHEBI:22695 base Any compound that produces a peak used to reference an NMR spectrum during data pre-processing. NMR chemical shift reference compounds NMR chemical shift standard NMR chemical shift standards NMR internal standard NMR internal standards NMR reference standard NMR reference standards CHEBI:228364 NMR chemical shift reference compound DrugBank:DB01373 KEGG:C00076 WebElements:Ca calcium 20Ca Ca Calcium Kalzium calcio calcium CHEBI:22984 calcium atom The univalent carboacyl group formed by loss of -OH from the carboxy group of carbamic acid. carbamoyl -C(O)NH2 -CONH2 aminocarbonyl carbamyl carbamyl group carboxamide CHEBI:23004 carbamoyl group carbonyl carbonyl group >C=O CHEBI:23019 carbonyl group A class of beta-lactam antibiotics differing from the penicillins in having a 6-membered, rather than a 5-membered, side ring. A class of beta-lactam antibiotics differing from the penicillins in having a 6-membered, rather than a 5-membered, side ring. Although cephalosporins are among the most commonly used antibiotics in the treatment of routine infections, and their use is increasing over time, they can cause a range of hypersensitivity reactions, from mild, delayed-onset cutaneous reactions to life-threatening anaphylaxis in patients with immunoglobulin E (IgE)-mediated allergy. 0 C7H5NO3SR2 183.18500 182.99901 [H][C@]12SCC([*])=C(N1C(=O)[C@H]2[*])C(O)=O CHEBI:3538 CiteXplore:12833570 CiteXplore:6762896 KEGG COMPOUND:C00875 KEGG:C00875 PMID:10069359 PMID:11936371 PMID:12833570 PMID:24269048 PMID:3320614 PMID:6762896 PMID:8426246 Wikipedia:Cephalosporin Cephalosporin chebi_ontology C7H5NO3SR2 [H][C@]12SCC([*])=C(N1C(=O)[C@H]2[*])C(O)=O cephalosphorin cephalosphorins cephalosporins CHEBI:23066 cephalosporin cobalamins cobamides An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group). Wikipedia:Cofactor_(biochemistry) cofactor cofactors CHEBI:23357 cofactor molecular entity Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity. We are assuming that every molecular entity has to be completely connected by chemical bonds. This excludes protein complexes, which are comprised of minimally two separate molecular entities. We will follow up with Chebi to ensure this is their understanding as well molecular entity chebi_ontology entidad molecular entidades moleculares entite moleculaire molecular entities molekulare Entitaet CHEBI:23367 molecular entity cobalt-corrinoid hexaamide cyclic amide cyclic amides CHEBI:23443 cyclic amide Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. drugs medicine drug A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. enzyme inhibitor enzyme inhibitors inhibidor enzimatico inhibidores enzimaticos inhibiteur enzymatique inhibiteurs enzymatiques CHEBI:23924 enzyme inhibitor Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. glucocorticoids glucocorticoid A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances. chemical entity chebi_ontology CHEBI:24431 chemical entity A role played by the molecular entity or part thereof within a biological context. biological function CHEBI:24432 biological role A defined linked collection of atoms or a single atom within a molecular entity. group Gruppe Rest groupe grupo grupos CHEBI:24433 group CHEBI:24531 heterocyclic antibiotic A cyclic compound having as ring members atoms of carbon and at least of one other element. chebi_ontology organic heterocycle organic heterocyclic compounds CHEBI:24532 organic heterocyclic compound Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds. endocrine hormones hormone A compound consisting of carbon and hydrogen only. hydrocarbon hydrocarbons Kohlenwasserstoff Kohlenwasserstoffe hidrocarburo hidrocarburos hydrocarbure hydrocarbon Hydroxides are chemical compounds containing a hydroxy group or salts containing hydroxide (OH(-)). chebi_ontology CHEBI:24651 hydroxides A compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). oxoacid oxoacids oxacids oxiacids oxo acid oxy-acids oxyacids CHEBI:24833 oxoacid inorganic anions CHEBI:24834 inorganic anion A molecular entity that contains no carbon. anorganische Verbindungen inorganic compounds inorganic entity inorganic molecular entities inorganics CHEBI:24835 inorganic molecular entity A molecular entity having a net electric charge. Ion ion Ionen iones ions CHEBI:24870 ion iron molecular entity iron compounds iron molecular entities iron molecular entity Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. lactam lactams chebi_ontology Laktam Laktame lactams CHEBI:24995 lactam Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. CHEBI:26619 CHEBI:35220 metabolite metabolites primary metabolites secondary metabolites CHEBI:25212 metabolite metalloporphyrins metaloporphyrins metalloporphyrin Any polyatomic entity that is an electrically neutral entity consisting of more than one atom. molecule chebi_ontology Molekuel molecula molecules neutral molecular compounds CHEBI:25367 molecule WebElements:N nitrogen 7N N Stickstoff azote nitrogen nitrogeno CHEBI:25555 nitrogen atom chebi_ontology organonitrogen heterocyclic antibiotics CHEBI:25558 organonitrogen heterocyclic antibiotic nonmetal Nichtmetall Nichtmetalle no metal no metales non-metal non-metaux nonmetal nonmetals CHEBI:25585 nonmetal atom Any organic ion with a net negative charge. organic anions CHEBI:25696 organic anion organic ions CHEBI:25699 organic ion An oxide is a chemical compound of oxygen with other chemical elements. oxide oxides CHEBI:25741 oxide KEGG:C00007 WebElements:O oxygen 8O O Sauerstoff oxigeno oxygen oxygene CHEBI:25805 oxygen atom oxygen molecular entity chebi_ontology oxygen molecular entities CHEBI:25806 oxygen molecular entity chebi_ontology CHEBI:25865 penicillanic acids Natural and synthetic compounds containing alternating carbonyl and methylene groups ('beta-polyketones'), biogenetically derived from repeated condensation of acetyl coenzyme A (via malonyl coenzyme A), and usually the compounds derived from them by further condensations, etc. Considered by many to be synonymous with the less frequently used terms acetogenins and ketides. polyketide polyketides polyketide Natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. porphyrins porphyrins A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity. prosthetic group groupe prosthetique prosthetic groups prosthetic group Any steroid that acts as hormone. Steroidhormon Steroidhormone hormona esteroide hormonas esteroideas hormone steroide hormones steroides steroid hormones steroid hormone sulfur molecular entity sulfur molecular entities CHEBI:26835 sulfur molecular entity A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. tertiary alcohol tertiary alcohols tertiary alcohol A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups. tetracyclines true A natural pigment containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. tetrapyrrole tetrapyrroles a tetrapyrrole tetrapyrrole Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions. micronutrients trace elements micronutrient An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. transition element Uebergangselement Uebergangsmetalle metal de transicion metal de transition metales de transicion metaux de transition transition element transition elements transition metal transition metals transition element atom chebi_ontology heterobicyclic compounds organic heterobicyclic compounds CHEBI:27171 organic heterobicyclic compound A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid. univalent acyl group univalent carboacyl groups univalent carboxylic acyl groups CHEBI:27207 univalent carboacyl group wasserloesliche Vitamine water-soluble vitamins water-soluble vitamin A neutral compound having formal unit electrical charges of opposite sign on non-adjacent atoms. Sometimes referred to as inner salts, dipolar ions (a misnomer). zwitterion zwitterions compose zwitterionique compuestos zwitterionicos zwitteriones zwitterionic compounds CHEBI:27369 zwitterion CHEBI:23009 CHEBI:3399 KEGG:C06265 WebElements:C carbon 6C C Carbon Kohlenstoff carbon carbone carbonium carbono CHEBI:27594 carbon atom A cobalt group element atom that has atomic number 27. cobalt 27Co Co Cobalt Kobalt cobalt cobalto cobaltum cobalt atom A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria. (4S,4aS,5aS,6S,12aS)-4-(dimethylamino)-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide TETRACYCLINE Tetracycline tetracycline (4S,4aS,5aS,12aS)-4-(Dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-2-naphthacenecarboxamide Abramycin Achromycin Anhydrotetracycline Deschlorobiomycin Liquamycin Tetracyclin Tetrazyklin Tsiklomitsin tetracycline tetracyclinum tetracycline An organonitrogen heterocyclic antibiotic that contains a beta-lactam ring. CHEBI:10427 CHEBI:22844 KEGG:C03438 PMID:19254642 PMID:22594007 Wikipedia:Beta-lactam_antibiotic chebi_ontology beta-Lactam antibiotics beta-lactam antibiotics CHEBI:27933 beta-lactam antibiotic A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised. CHEBI:22504 CHEBI:23002 CHEBI:3386 CHEBI:44573 DrugBank:DB04261 KEGG:C01563 PDBeChem:OUT Wikipedia:Carbamic_acid CARBAMIC ACID Carbamic acid carbamic acid Aminoameisensaeure Aminoformic acid Carbamate Carbamidsaeure CHEBI:28616 carbamic acid An onium cation obtained by protonation of ammonia. CHEBI:22534 CHEBI:49783 CHEBI:7435 KEGG:C01342 MetaCyc:AMMONIUM MolBase:929 PDBeChem:NH4 Wikipedia:Ammonium ammonium azanium Ammonium(1+) NH4(+) NH4+ [NH4](+) ammonium cation ammonium ion CHEBI:28938 ammonium The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated. CHEBI:13626 CHEBI:13945 CHEBI:23026 CHEBI:58657 a carboxylate carboxylic acid anions carboxylic anions CHEBI:29067 carboxylic acid anion amide azanide dihydridonitrate(1-) NH2(-) CHEBI:29337 azanide A divalent inorganic anion resulting from the removal of two protons from ammonia. azanediide hydridonitrate(2-) NH(2-) imide CHEBI:29340 hydridonitrate(2-) A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. COBALAMIN Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-cobamide cobalamin cobalamin A heme is any tetrapyrrolic chelate of iron. heme hemes Haem haem haeme hem hemos heme A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. Alcohol alcohols an alcohol alcohol An acene that consists of four ortho-fused benzene rings in a rectilinear arrangement. tetracene 2,3-benzanthracene benz[b]anthracene naphthacene tetracene An amide is a derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. CHEBI:22473 CHEBI:2633 KEGG COMPOUND:C00241 KEGG:C00241 Amide amides chebi_ontology CHEBI:32988 amide A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. Vitamin vitamina vitaminas vitamine vitamines vitamins vitaminum vitamin Intended use of the molecular entity or part thereof by humans. CHEBI:33232 application A particle not known to have substructure. elementary particle elementary particles CHEBI:33233 fundamental particle An assembly consisting of a central atom (usually metallic) to which is attached a surrounding array of other groups of atoms (ligands). coordination entities coordination entity coordination compounds coordination entity inorganic hydrides CHEBI:33242 inorganic hydride An organic fundamental parent is a structure used as a basis for substitutive names in organic nomenclature, containing, in addition to one or more hydrogen atoms, a single atom of an element, a number of atoms (alike or different) linked together to form an unbranched chain, a monocyclic or polycyclic ring system, or a ring assembly or ring/chain system. organic fundamental parents organic parent hydrides organic fundamental parent Any substituent group which does not contain carbon. inorganic groups CHEBI:33246 inorganic group Any substituent group or skeleton containing carbon. organic groups CHEBI:33247 organic group Any organic substituent group, regardless of functional type, having one free valence at a carbon atom. organyl group organyl groups groupe organyle grupo organilo grupos organilo CHEBI:33249 organyl group atom A chemical entity constituting the smallest component of an element having the chemical properties of the element. CHEBI:22671 CHEBI:23907 atom atome atomo atoms atomus element elements CHEBI:33250 atom A nucleus is the positively charged central portion of an atom, excluding the orbital electrons. nucleus Atomkern Kern noyau noyau atomique nuclei nucleo nucleo atomico nucleus atomi CHEBI:33252 atomic nucleus Heavy nuclear particle: proton or neutron. nucleon Nukleon Nukleonen nucleons CHEBI:33253 nucleon A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. primary amide primary amides CHEBI:33256 primary amide An organosulfur compound is a compound containing at least one carbon-sulfur bond. CHEBI:23010 CHEBI:25714 Wikipedia:Organosulfur_compounds organosulfur compound chebi_ontology organosulfur compounds CHEBI:33261 organosulfur compound An anion consisting of more than one atom. polyatomic anions CHEBI:33273 polyatomic anion chemical messenger molecular messenger A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. Antibiotika Antibiotikum antibiotic antibiotics antibiotique antimicrobial antimicrobial agents antimicrobials microbicide microbicides antimicrobial agent A substance (or active part thereof) that kills or slows the growth of bacteria. antibacterial agents antibacterials bactericide bactericides antibacterial agent A nutrient is a food component that an organism uses to survive and grow. nutrients CHEBI:33284 nutrient A heteroorganic entity is an organic molecular entity in which carbon atoms or organic groups are bonded directly to one or more heteroatoms. chebi_ontology heteroorganic entities organoelement compounds CHEBI:33285 heteroorganic entity A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life. Any material that can be ingested by an organism. food material food materials food role foods foodstuff foodstuffs food Any p-block element atom that is in group 15 of the periodic table: nitrogen, phosphorus, arsenic, antimony and bismuth. pnictogens group 15 elements group V elements nitrogenoideos nitrogenoides pnictogene pnictogenes CHEBI:33300 pnictogen A p-block molecular entity containing any pnictogen. pnictogen molecular entity pnictogen molecular entities CHEBI:33302 pnictogen molecular entity Any p-block element belonging to the group 16 family of the periodic table. chalcogen chalcogens Chalkogen Chalkogene anfigeno anfigenos calcogeno calcogenos chalcogene chalcogenes group 16 elements group VI elements CHEBI:33303 chalcogen Any p-block molecular entity containing a chalcogen. chalcogen molecular entity chebi_ontology chalcogen compounds chalcogen molecular entities CHEBI:33304 chalcogen molecular entity group 14 elements carbon group element carbon group elements carbonoides cristallogene cristallogenes group IV elements CHEBI:33306 carbon group element atom An atom belonging to one of the main groups (found in the s- and p- blocks) of the periodic table. main group elements Hauptgruppenelement Hauptgruppenelemente main group element CHEBI:33318 main group element atom group 8 elements iron group element iron group elements iron group element atom group 9 elements cobalt group element cobalt group elements cobalt group element atom A molecular entity containing one or more atoms of a transition element. transition element molecular entities transition metal molecular entity transition element molecular entity An atom of an element that exhibits typical metallic properties, being typically shiny, with high electrical and thermal conductivity. CHEBI:25217 CHEBI:6788 KEGG:C00050 Wikipedia:Metal elemental metal elemental metals metal element metal elements metals CHEBI:33521 metal atom An amino-acid anion obtained by deprotonation of any alpha-amino acid. alpha-amino-acid anion alpha-amino acid anions alpha-amino-acid anions CHEBI:33558 alpha-amino-acid anion s-block element s-block elements CHEBI:33559 s-block element atom Any main group element atom belonging to the p-block of the periodic table. p-block element p-block elements CHEBI:33560 p-block element atom d-block element d-block elements d-block element atom A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. An oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. 0 CHO2R 45.01740 44.99765 OC([*])=O CHEBI:13428 CHEBI:13627 CHEBI:23027 CiteXplore:17147560 CiteXplore:18433345 PMID:17147560 PMID:18433345 Wikipedia:Carboxylic_acid carboxylic acid carboxylic acids chebi_ontology CHO2R Carbonsaeure Carbonsaeuren Karbonsaeure OC([*])=O RC(=O)OH acide carboxylique acides carboxyliques acido carboxilico acidos carboxilicos CHEBI:33575 carboxylic acid A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. chebi_ontology main group compounds main group molecular entities CHEBI:33579 main group molecular entity carbon group molecular entity carbon group molecular entities CHEBI:33582 carbon group molecular entity Any molecule that consists of a series of atoms joined together to form a ring. Wikipedia:Cyclic_compound chebi_ontology cyclic compounds CHEBI:33595 cyclic compound A cyclic compound having as ring members atoms of the same element only. homocyclic compound homocyclic compounds isocyclic compounds homocyclic compound A homocyclic compound in which all of the ring members are carbon atoms. carbocyclic compound carbocyclic compounds carbocycle carbocyclic compound hydrogen compounds hydrogen molecular entities CHEBI:33608 hydrogen molecular entity polycyclic compounds polycyclic compound A molecule that features two fused rings. bicyclic compounds CHEBI:33636 bicyclic compound A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have n common faces and 2n common atoms. ortho-fused polycyclic compounds ortho-fused compounds ortho-fused compound A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character. aromatic compounds aromatic molecular entity aromatics aromatische Verbindungen aromatic compound Any monocyclic or polycyclic aromatic hydrocarbon. arene arenes aromatic hydrocarbons arene organic aromatic compounds organic aromatic compound cyclic hydrocarbon cyclic hydrocarbons cyclic hydrocarbon polycyclic hydrocarbon polycyclic hydrocarbons polycyclic hydrocarbon A polycyclic compound in which at least one of the rings contains at least one non-carbon atom. heteropolycyclic compounds chebi_ontology polyheterocyclic compounds CHEBI:33671 heteropolycyclic compound A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. heterobicyclic compounds chebi_ontology CHEBI:33672 heterobicyclic compound An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element. s-block molecular entity s-block compounds s-block molecular entities CHEBI:33674 s-block molecular entity A main group molecular entity that contains one or more atoms of a p-block element. A p-block molecular entity is a molecular entity containing one or more atoms of a p-block element. chebi_ontology p-block compounds p-block molecular entities p-block molecular entitiy CHEBI:33675 p-block molecular entity A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. d-block molecular entity d-block compounds d-block molecular entities d-block molecular entity Hydrides are chemical compounds of hydrogen with other chemical elements. CHEBI:33692 hydrides A macromolecule formed by a living organism. biopolymer Biopolymere biomacromolecules biopolymers CHEBI:33694 biomacromolecule genetically encoded biomacromolecules genetically encoded biopolymers information biomacromolecules information biopolymers information macromolecule information macromolecules CHEBI:33695 information biomacromolecule nucleic acid A macromolecule made up of nucleotide units and hydrolysable into certain pyrimidine or purine bases (usually adenine, cytosine, guanine, thymine, uracil), D-ribose or 2-deoxy-D-ribose and phosphoric acid. nucleic acid canonical amino-acid residue canonical amino-acid residues common amino acid residues proteinogenic amino-acid residues standard amino acid residues standard amino-acid residues CHEBI:33700 proteinogenic amino-acid residue An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group. CHEBI:10208 CHEBI:13779 CHEBI:22442 CHEBI:2642 KEGG:C00045 KEGG:C05167 alpha-amino acid Amino acid Amino acids alpha-amino acids alpha-amino carboxylic acids CHEBI:33704 alpha-amino acid When two or more amino acids combine to form a peptide, the elements of water are removed, and what remains of each amino acid is called an amino-acid residue. amino acid residue amino-acid residue protein residue chebi_ontology amino acid residue amino-acid residues CHEBI:33708 amino-acid residue A carboxylic acid containing one or more amino groups. CHEBI:13815 CHEBI:22477 Wikipedia:Amino_acid Aminocarbonsaeure Aminokarbonsaeure Aminosaeure amino acids CHEBI:33709 amino acid An amino-acid residue derived from an alpha-amino acid. alpha-amino-acid residues an alpha-amino acid residue CHEBI:33710 alpha-amino-acid residue carbohydrate acid carbohydrate acids CHEBI:33720 carbohydrate acid carbohydrate acid anion carbohydrate acid anions CHEBI:33721 carbohydrate acid anion iron group molecular entity iron group molecular entities iron group molecular entity cobalt group molecular entity cobalt group molecular entities cobalt group molecular entity An organic compound having at least one hydroxy group attached to a carbon atom. hydroxy compounds organic alcohol organic hydroxy compounds organic hydroxy compound Any organic molecule that consists of atoms connected in the form of a ring. chebi_ontology organic cyclic compounds CHEBI:33832 organic cyclic compound A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2). heteroarenes hetarenes heteroarene benzenoid aromatic compounds benzenoid compound benzenoid aromatic compound Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. conjugated proteins complex protein conjugated protein macromolecule A macromolecule is a molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. polymer Wikipedia:Macromolecule macromolecule macromolecules polymer polymer molecule polymers CHEBI:33839 macromolecule A polycyclic aromatic hydrocarbon. PAH PAHs polycyclic arenes polycyclic aromatic hydrocarbons polycyclic arene transition element coordination entities transition metal coordination compounds transition metal coordination entities transition element coordination entity cobalt molecular entity cobalt compounds cobalt molecular entities cobalt molecular entity cobalt coordination entity cobalt coordination compounds cobalt coordination entities cobalt coordination entity iron coordination entity iron coordination compounds iron coordination entities iron coordination entity A substance used in a chemical reaction to detect, measure, examine, or produce other substances. reagent reactif reactivo reagents CHEBI:33893 reagent cobalt corrinoids cobalt-corrinoids cobalt corrinoid metal-tetrapyrrole metal-tetrapyrrole complex metallotetrapyrroles metallotetrapyrrole A derivative of the corrin nucleus, which contains four reduced or partly reduced pyrrole rings joined in a macrocycle by three =C- groups and one direct carbon-carbon bond linking alpha positions. Corrinoid corrinoid corrinoids Corrinoid protein Corrinoid protein Co+ Korrinoid corrinoide corrinoides corrinoid Any nutrient required in large quantities by organisms throughout their life in order to orchestrate a range of physiological functions. Macronutrients are usually chemical elements (carbon, hydrogen, nitrogen, oxygen, phosphorus and sulfur) that humans consume in the largest quantities. Calcium, sodium, magnesium and potassium are sometimes included as macronutrients because they are required in relatively large quantities compared with other vitamins and minerals. macronutrients CHEBI:33937 macronutrient nitrogen hydrides CHEBI:35106 nitrogen hydride Saturated acyclic nitrogen hydrides having the general formula NnHn+2. azanes CHEBI:35107 azane metalloprotein metalloproteine metalloproteins metalloprotein iron protein iron proteins iron-containing proteins iron protein Conjugated proteins containing heme as the prosthetic group. hemoprotein Haemoprotein Haemprotein haem protein haemoprotein heme protein hemeproteins hemoproteins hemoprotein hemoglobin haemoglobin vertebrate haemoglobin hemoglobin A substance that diminishes the rate of a chemical reaction. inhibitor inhibidor inhibiteur inhibitors CHEBI:35222 inhibitor The zwitterionic form of an amino acid having a negatively charged carboxyl group and a positively charged amino group. amino acid zwitterion CHEBI:35238 amino acid zwitterion fused compounds fused polycyclic compounds fused-ring polycyclic compound fused-ring polycyclic compounds polycyclic fused-ring compounds fused compound A polyclic compound in which all of the ring members are carbon atoms. carbopolycyclic compounds carbopolycyclic compound homopolycyclic compounds homopolycyclic compound ortho-fused polycyclic arenes ortho-fused polycyclic arene A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement. acene acenes Acen Azen polyacenes acene Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene, so may be considered as triterpenoids. Steroid steroids a steroid steroid Any heteroorganic entity containing at least one carbon-nitrogen bond. organonitrogen compounds chebi_ontology organonitrogens CHEBI:35352 organonitrogen compound An oxoanion is an anion derived from an oxoacid by loss of hydron(s) bound to oxygen. CHEBI:33274 CHEBI:33436 oxoanion oxoacid anions oxoanions CHEBI:35406 oxoanion ortho-fused polycyclic hydrocarbon ortho-fused polycyclic hydrocarbons ortho-fused polycyclic hydrocarbon A substance used in the prophylaxis or therapy of infectious diseases. anti-infective agents anti-infective drugs antiinfective agents antiinfective drug antiinfective agent A substance used to treat or prevent parasitic infections. antiparasitic drugs antiparasitics parasiticides antiparasitic agent chebi_ontology carbon oxoacids oxoacids of carbon CHEBI:35605 carbon oxoacid A beta-lactam is a lactam in which the amide bond is contained within a four-membered ring, which includes the amide nitrogen and the carbonyl carbon. A lactam in which the amide bond is contained within a four-membered ring, which includes the amide nitrogen and the carbonyl carbon. 0 C3H2NOR3 68.054 68.01364 C1(C(N(*)C1*)=O)* CHEBI:10426 CHEBI:13203 CHEBI:22845 KEGG COMPOUND:C01866 KEGG:C01866 Wikipedia:Beta-lactam beta-Lactam beta-lactam chebi_ontology a beta-lactam beta-lactams CHEBI:35627 beta-lactam Any antimicrobial drug which is used to treat or prevent protozoal infections. antiprotozoal agent antiprotozoal agents antiprotozoal drugs antiprotozoal drug pnictogen hydride pnictogen hydrides CHEBI:35881 pnictogen hydride Natural and synthetic antibiotics containing the 4-thia-1-azabicyclo[3.2.0]heptan-7-one structure, generally assumed to have the 5R configuration unless otherwise specified. penams chebi_ontology CHEBI:35992 penams A drug used to treat or prevent microbial infections. antimicrobial drugs antimicrobial drug A drug used to treat or prevent bacterial infections. antibacterial drugs antibacterial drug A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. CHEBI:13677 CHEBI:14911 proteins CHEBI:36080 protein macrocyclic tetrapyrroles cyclic tetrapyrroles macrocyclic tetrapyrrole cyclic tetrapyrrole Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin). leptons CHEBI:36338 lepton Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy). baryons CHEBI:36339 baryon Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi. fermion fermions CHEBI:36340 fermion A particle smaller than an atom. Wikipedia:Subatomic_particle subatomic particles CHEBI:36342 subatomic particle A subatomic particle known to have substructure (i.e. consisting of smaller particles). composite particles CHEBI:36343 composite particle Hadron is a subatomic particle which experiences the strong force. hadrons CHEBI:36344 hadron A nucleus or any of its constituents in any of their energy states. nuclear particle CHEBI:36347 nuclear particle Any molecular entity consisting of more than one atom. chebi_ontology polyatomic entities CHEBI:36357 polyatomic entity An ion consisting of more than one atom. polyatomic ions CHEBI:36358 polyatomic ion pseudoketone pseudoketones pseudoketones CHEBI:36585 pseudoketone Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives. carbonyl compounds chebi_ontology CHEBI:36586 carbonyl compound Organic compounds containing an oxygen atom, =O, doubly bonded to carbon or another element. oxo compounds organic oxo compounds CHEBI:36587 organic oxo compound A cyclic compound in which a carbonyl group in a ring is bonded to one or two skeletal heteroatoms. cyclic pseudoketones CHEBI:36588 cyclic pseudoketone Any of a class of steroid hormones that are produced in the adrenal cortex. adrenal cortex hormones corticosteroid hormones corticosteroid hormone inorganic ions CHEBI:36914 inorganic ion inorganic cations CHEBI:36915 inorganic cation A monoatomic or polyatomic species having one or more elementary charges of the proton. CHEBI:23058 CHEBI:3473 KEGG:C01373 Cation cation Kation Kationen cationes cations CHEBI:36916 cation An organochalcogen compound is a compound containing at least one carbon-chalcogen bond. organochalcogen compound chebi_ontology organochalcogen compounds CHEBI:36962 organochalcogen compound An organochalcogen compound containing at least one carbon-oxygen bond. CiteXplore:17586126 PMID:17586126 organooxygen compound chebi_ontology organooxygen compounds CHEBI:36963 organooxygen compound amino-acid anion amino acid anions amino-acid anions CHEBI:37022 amino-acid anion organic hydrides organic hydride mononuclear parent hydrides mononuclear hydride mononuclear hydrides CHEBI:37176 mononuclear parent hydride Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid. CHEBI:25425 CHEBI:7011 KEGG:C05114 Mucopolysaccharide mucopolysaccharides Mucopolysaccharid Mukopolysaccharid mucopolisacarido mucopolisacaridos CHEBI:37395 mucopolysaccharide An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid). CHEBI:13800 CHEBI:13801 CHEBI:22209 CHEBI:2426 KEGG:C00174 Acid acid Saeure Saeuren acide acido acids CHEBI:37527 acid A molecular entity consisting of two or more chemical elements. chemical compound heteroatomic molecular entities CHEBI:37577 heteroatomic molecular entity An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom. 0 CNOR3 42.01680 41.99799 [*]C(=O)N([*])[*] CHEBI:35354 CHEBI:35355 carboxamides chebi_ontology carboxamides primary carboxamide CHEBI:37622 carboxamide A carboacyl group is a group formed by loss of at least one OH from the carboxy group of a carboxylic acid. carboacyl groups carboxylic acyl group carboxylic acyl groups CHEBI:37838 carboacyl group A compound composed of two or more pyrrole units. PPys poly(pyrrole)s polypyrroles polypyrrole Any organonitrogen compound containing a cyclic component with nitrogen and at least one other element as ring member atoms. chebi_ontology heterocyclic organonitrogen compounds organonitrogen heterocyclic compounds CHEBI:38101 organonitrogen heterocyclic compound chebi_ontology heterocyclic organosulfur compounds organosulfur heterocyclic compounds CHEBI:38106 organosulfur heterocyclic compound CHEBI:25429 CHEBI:38075 chebi_ontology organic heteropolycyclic compounds CHEBI:38166 organic heteropolycyclic compound chebi_ontology cephems CHEBI:38311 cephem A molecular entity capable of donating a hydron to an acceptor (Bronsted base). Bronsted acid Bronsted-Saeure acide de Bronsted donneur d'hydron hydron donor CHEBI:39141 Bronsted acid A molecular entity capable of accepting a hydron from a donor (Bronsted acid). Bronsted base Bronsted-Base accepteur d'hydron base de Bronsted hydron acceptor CHEBI:39142 Bronsted base A molecular entity able to provide a pair of electrons and thus capable of forming a covalent bond with an electron-pair acceptor (Lewis acid), thereby producing a Lewis adduct. Lewis base Lewis-Base base de Lewis donneur d'une paire d'electrons electron donor CHEBI:39144 Lewis base CHEBI:24706 CHEBI:43171 PDBeChem:OH HYDROXY GROUP hydroxy hydroxy group -OH hydroxyl hydroxyl group CHEBI:43176 hydroxy group CHEBI:29353 CHEBI:44607 PDBeChem:O OXO GROUP oxo =O CHEBI:46629 oxo group CHEBI:23025 CHEBI:41420 PDBeChem:FMT CARBOXY GROUP carboxy -C(O)OH -CO2H -COOH carboxyl group CHEBI:46883 carboxy group macrocyclic polypyrroles cyclic polypyrroles polypyrrole macrocycles cyclic polypyrrole A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein. protein synthesis antagonist protein synthesis antagonists protein synthesis inhibitors protein synthesis inhibitor Substance which binds to cell receptors normally responding to naturally occurring substances and which produces a response of its own. agonist agonista agoniste agonists agonist CHEBI:24634 CHEBI:49636 WebElements:H hydrogen 1H H Wasserstoff hidrogeno hydrogen hydrogene CHEBI:49637 hydrogen atom A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. organic amino compounds CHEBI:50047 organic amino compound CHEBI:50312 onium compound Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families. onium cations onium cations onium ion onium ions CHEBI:50313 onium cation A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance. Dietary Supplement Food Supplementation Nutritional supplement nutraceutical A natural or synthetic analogue of the hormones secreted by the adrenal gland. corticoides corticosteroides corticosteroids corticosteroid Any molecular entity that contains carbon. CHEBI:25700 CHEBI:33244 chebi_ontology organic compounds organic entity organic molecular entities CHEBI:50860 organic molecular entity A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. agente carcinogeno cancerigene cancerogene carcinogen carcinogene carcinogenic agents carcinogeno carcinogens carcinogenic agent A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy. alergeno allergene allergenic agent allergen A role is particular behaviour which a material entity may exhibit. CHEBI:50906 role A poison that interferes with the functions of the nervous system. CHEBI:50911 Wikipedia:Neurotoxin agente neurotoxico nerve poison nerve poisons neurotoxic agent neurotoxic agents neurotoxicant neurotoxins CHEBI:50910 neurotoxin A drug that modulates the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. hormone receptor modulators hormone receptor modulator A role played by the molecular entity or part thereof within a chemical context. CHEBI:51086 chemical role CHEBI:25556 CHEBI:7594 KEGG COMPOUND:C06061 KEGG:C06061 chebi_ontology Nitrogenous compounds nitrogen compounds nitrogen molecular entities CHEBI:51143 nitrogen molecular entity An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case. dipolar compounds CHEBI:51151 dipolar compound Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives. acenes Compounds containing a tetracene skeleton. naphthacenes tetracenes Any organic substituent group, regardless of functional type, having two free valences at carbon atom(s). organodiyl groups CHEBI:51422 organodiyl group CHEBI:51446 organic divalent group CHEBI:51447 organic univalent group organic polycyclic compounds organic polycyclic compound A biological role played by the molecular entity or part thereof within a biochemical context. CHEBI:52206 biochemical role A role played by the molecular entity or part thereof which causes the development of a pathological process. etiopathogenetic agent etiopathogenetic role CHEBI:52209 aetiopathogenetic role A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. pharmacological role CHEBI:52211 physiological role Any substance introduced into a living organism with therapeutic or diagnostic purpose. farmaco medicament pharmaceuticals pharmaceutical A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group. oxyketones oxyketone An oxyketone with the general formula R2C(=O) (R=/=H) where one or more of the R groups contains an oxy (-O-) group and the oxy and carbonyl groups are bonded to the same carbon atom. alpha-oxyketones alpha-oxyketone A polymer carrying multiple negative charges. polyanion polyanions CHEBI:53309 polyanionic macromolecule A macromolecule containing ionic groups. ionic polymer polyionic macromolecule CHEBI:53368 ionic macromolecule Globin globins pentacoordinate globin globin A cyclic compound having as ring members atoms of at least two different elements. Heterocyclic compound chebi_ontology compuesto heterociclico compuestos heterociclicos heterocycle heterocyclic compounds CHEBI:5686 heterocyclic compound A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons. nucleophile nucleophiles nucleophilic reagents CHEBI:59740 nucleophilic reagent A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types. Chemische Substanz CHEBI:59999 chemical substance A mixture is a chemical substance composed of multiple molecules, at least two of which are of a different kind. Mischung CHEBI:60004 mixture A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc.. Wikipedia:Polymer Polymer Kunststoff CHEBI:60027 polymer An ionic polymer is a polymer, composed of ionic macromolecules. polyionic polymer CHEBI:60164 ionic polymer An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one. a monovalent cation CHEBI:60242 monovalent inorganic cation Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged. a peptide peptide zwitterions CHEBI:60466 peptide zwitterion A polymer, composed of polyanion macromolecules. polyanion polyanions CHEBI:61469 polyanionic polymer Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds. carbohydrate derivatives derivatised carbohydrate derivatised carbohydrates derivatized carbohydrate derivatized carbohydrates CHEBI:63299 carbohydrate derivative A carbohydrate derivative that is formally obtained from a carbohydrate acid. carbohydrate acid derivatives CHEBI:63436 carbohydrate acid derivative A carboxylic acid anion resulting from the deprotonation of the carboxy group of a carbohydrate acid derivative. carbohydrate acid anion derivative carbohydrate acid anion derivatives carbohydrate acid derivative anions CHEBI:63551 carbohydrate acid derivative anion An organic molecular entity containing a single carbon atom (C1). one-carbon compounds CHEBI:64708 one-carbon compound Any organic molecular entity that is acidic and contains carbon in covalent linkage. organic acids CHEBI:64709 organic acid Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism. Wikipedia:Poison poisonous agent poisonous agents poisonous substance poisonous substances poisons toxic agent toxic agents toxic substance toxic substances CHEBI:64909 poison A carbohydrate derivative that is any derivative of a polysaccharide. polysaccharide derivatives CHEBI:65212 polysaccharide derivative An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group. (1S,4aS,11S,11aS,12aS)-3-carbamoyl-1-(dimethylazaniumyl)-4a,7,11-trihydroxy-11-methyl-4,6-dioxo-1,4,4a,6,11,11a,12,12a-octahydrotetracene-2,5-diolate tetracycline anion tetracycline(1-) Any molecule that consists of at least one carbon atom as part of the electrically neutral entity. chebi_ontology organic compound organic compounds organic molecules CHEBI:72695 organic molecule A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment. MetaCyc:Exopolysaccharides Wikipedia:Exopolysaccharide Wikipedia:Extracellular_polymeric_substance exopolysaccharides extracellular polymeric substance extracellular polymeric substances CHEBI:72813 exopolysaccharide Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms. eukaryotic metabolites CHEBI:75763 eukaryotic metabolite Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals. CHEBI:77721 CHEBI:77743 animal metabolites CHEBI:75767 animal metabolite Any animal metabolite produced during a metabolic reaction in mammals. CHEBI:77464 CHEBI:77744 mammalian metabolites CHEBI:75768 mammalian metabolite A role played by any of the group of eight water-soluble vitamins originally thought to be a single compound (vitamin B). The group comprises of vitamin B1, B2, B3, B5, B6, B7, B9, and B12 (Around 20 other compounds were once thought to be B vitamins but are no longer classified as such). B vitamins play important roles in cell metabolism. B vitamins B-group vitamin B-group vitamins vitamin B B vitamin Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). Mus musculus metabolite Mus musculus metabolites mouse metabolites CHEBI:75771 mouse metabolite Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae). CHEBI:76949 CHEBI:76951 S. cerevisiae metabolite S. cerevisiae metabolites S. cerevisiae secondary metabolite S. cerevisiae secondary metabolites Saccharomyces cerevisiae metabolites Saccharomyces cerevisiae secondary metabolites baker's yeast metabolite baker's yeast metabolites baker's yeast secondary metabolite baker's yeast secondary metabolites CHEBI:75772 Saccharomyces cerevisiae metabolite Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. prokaryotic metabolites CHEBI:75787 prokaryotic metabolite Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*). Wikipedia:Hydrolase EC 3.* (hydrolase) inhibitors EC 3.* inhibitor EC 3.* inhibitors EC 3.*.*.* inhibitor EC 3.*.*.* inhibitors hydrolase (EC 3.*) inhibitor hydrolase (EC 3.*) inhibitors hydrolase inhibitor hydrolase inhibitors CHEBI:76759 EC 3.* (hydrolase) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitor EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitors EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitor EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitors EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitors EC 3.5.* inhibitor EC 3.5.* inhibitors CHEBI:76764 EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*). EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitors EC 3.5.1.* inhibitor EC 3.5.1.* inhibitors non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitor non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitors CHEBI:76807 EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor An enzyme inhibitor that interferes with one or more steps in a metabolic pathway. metabolic pathway inhibitor metabolic pathway inhibitors pathway inhibitors pathway inhibitor Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds. CHEBI:75765 CHEBI:76947 fungal metabolites CHEBI:76946 fungal metabolite Any prokaryotic metabolite produced during a metabolic reaction in bacteria. CHEBI:75760 CHEBI:76970 CHEBI:76969 bacterial metabolite Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. E.coli metabolite E.coli metabolites Escherichia coli metabolites CHEBI:76971 Escherichia coli metabolite Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). CHEBI:75770 CHEBI:77123 H. sapiens metabolite H. sapiens metabolites Homo sapiens metabolite Homo sapiens metabolites CHEBI:77746 human metabolite A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the 1-amino group of tetracycline. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). (1S,4aS,11S,11aS,12aS)-3-carbamoyl-1-(dimethylazaniumyl)-4a,5,7,11-tetrahydroxy-11-methyl-4,6-dioxo-1,4,4a,6,11,11a,12,12a-octahydrotetracen-2-olate tetracycline tetracycline zwitterion An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4). Wikipedia:Amidase EC 3.5.1.4 (amidase) inhibitors EC 3.5.1.4 inhibitor EC 3.5.1.4 inhibitors N-acetylaminohydrolase inhibitor N-acetylaminohydrolase inhibitors acylamidase inhibitor acylamidase inhibitors acylamide amidohydrolase inhibitor acylamide amidohydrolase inhibitors amidase (EC 3.5.1.4) inhibitor amidase (EC 3.5.1.4) inhibitors amidase inhibitor amidase inhibitors amidohydrolase inhibitor amidohydrolase inhibitors deaminase inhibitor deaminase inhibitors fatty acylamidase inhibitor fatty acylamidase inhibitors CHEBI:77941 EC 3.5.1.4 (amidase) inhibitor A physiological role played by any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. Any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. dietary component dietary components food components CHEBI:78295 food component A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure. Wikipedia:Refrigerant refrigerants CHEBI:78433 refrigerant An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any alpha-amino acid; major species at pH 7.3. CHEBI:83409 an alpha-amino acid CHEBI:78608 alpha-amino acid zwitterion Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation. carbohydrates and derivatives carbohydrates and their derivatives CHEBI:78616 carbohydrates and carbohydrate derivatives Any inorganic anion with a valency of two. divalent inorganic anions CHEBI:79388 divalent inorganic anion Any inorganic anion with a valency of one. monovalent inorganic anions CHEBI:79389 monovalent inorganic anion Any metal which causes the onset of an allergic reaction. allergenic metal allergenic metals metal allergens metal allergen A drug that acts as an antagonist, agonist, reverse agonist, or in some other fashion when interacting with cellular receptors. receptor modulators receptor modulator cell line cell cell line cell 细胞系细胞 A cultured cell that is part of a cell line - a stable and homogeneous population of cells with a common biological origin and propagation history in culture A cultured cell that is part of a cell line - a stable and homogeneous population of cells with a common biological origin and propagation history in culture 一个培养细胞，它是一个细胞株（一个稳定的，同质的细胞群，具有共同的生物学起源和增殖史）的一部分 一个培养细胞，它是一个细胞株（一个稳定的，同质的细胞群，具有共同的生物学起源和增殖史）的一部分 cell line cell cell line cell 细胞系细胞 immortal cell line cell immortal cell line cell 永生细胞系细胞 A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite propagation in vitro as part of an immortal cell line. A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite propagation in vitro as part of an immortal cell line. 预期能够进行无限次分裂的细胞系细胞，作为永生细胞系一部分，能够支持体外无限增殖。 immortal cell line cell immortal cell line cell 永生细胞系细胞 cell line 细胞系 A cultured cell population that represents a genetically stable and homogenous population of cultured cells that shares a common propagation history (i.e. has been successively passaged together in culture). A cultured cell population that represents a genetically stable and homogenous population of cultured cells that shares a common propagation history (i.e. has been successively passaged together in culture). 一个培养细胞群体，其代表具有共同增殖历史（即已经在培养中一起连续传代）的遗传稳定且同质的培养细胞群体。 培养的细胞群体代表具有共同繁殖历史（即已经在培养中一起连续传代）的遗传稳定且同质的培养细胞群体。 cell line 细胞系 immortal cell line A cell line that is expected to be capable of indefinite propagation in an vitro culture. immortal cell line cell cell PMID:18089833.Cancer Res. 2007 Dec 15;67(24):12018-25. "...Epithelial cells were harvested from histologically confirmed adenocarcinomas .." A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. CALOHA:TS-2035 FBbt:00007002 FMA:68646 GO:0005623 KUPO:0000002 MESH:D002477 VHOG:0001533 WBbt:0004017 XAO:0003012 cell The definition of cell is intended to represent all cells, and thus a cell is defined as a material entity and not an anatomical structure, which implies that it is part of an organism (or the entirety of one). cell cell primary cultured cell A cultured cell that is freshly isolated from a organismal source, or derives in culture from such a cell prior to the culture being passaged. primary cultured cell A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment). CARO:0000013 cell in vivo cell To accommodate unicellular organisms better, 'cell in vivo' has been re-labeled 'native cell' to better represent its intended meaning - that is, that it is a cell in the context of a multicellular organism or in a natural environment. 'Native' is intended to contrast with 'in vitro', which refers to cells or other biological entities that have been intentionally placed in a controlled, non-natural setting for the purpose of study or manipulation. (MAH 1.12.12). native cell A cell found in the embryo before the formation of all the gem layers is complete. early embryonic cell (metazoa) cultured cell A cell in vitro that is or has been maintained or propagated as part of a cell culture. cultured cell A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. CALOHA:TS-2086 FMA:63368 animal stem cell cell This term applies to metazoan. For plant stem cells, consider using PO:0004011 ‘initial cell’ or its parent PO:0004010 ‘meristematic cell’. stem cell A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119. BTO:0000725 CALOHA:TS-0448 FMA:70337 FMA:86475 MESH:D006412 VHOG:0001485 HSC blood forming stem cell hemopoietic stem cell cell HSC colony forming unit hematopoietic Markers differ between species, and two sets of markers have been described for mice. HSCs are reportedly CD34-positive, CD45-positive, CD48-negative, CD150-positive, CD133-positive, and CD244-negative. hematopoietic stem cell A progenitor cell committed to the erythroid lineage. BTO:0004911 cell BFU-E CFU-E blast forming unit erythroid burst forming unit erythroid colony forming unit erythroid erythroid stem cell erythroid progenitor cell A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring. Originally this term had some plant germ line cell children. germ line cell A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus. CALOHA:TS-1195 FMA:83553 cell CFU-M colony forming unit macrophage colony forming unit monocyte monocyte stem cell Morphology: mononuclear cell, diameter 12-20 _M, non-granular, N/C ratio 3/1 - 4/1; markers: CD11b (shared with many other myeloid cells); location: Adult: bone marrow; fetal: liver, Yolk Sac; role or process: hematopoiesis, monocyte development; lineage: hematopoietic, myeloid. monoblast A stem cell that can give rise to multiple lineages of cells. FMA:84789 multi-fate stem cell multifate stem cell multipotent cell multipotent stem cell cell multi fate stem cell A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. BTO:0004730 CMP common myeloid precursor cell CFU-GEMM CFU-S CMP colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte multipotential myeloid stem cell myeloid stem cell pluripotent stem cell (bone marrow) This cell type is intended to be compatible with any vertebrate common myeloid progenitor. For mammalian CMP known to be CD34-positive, please use the term 'common myeloid progenitor, CD34-positive' (CL_0001059). common myeloid progenitor A progenitor cell committed to the megakaryocyte and erythroid lineages. CFU-EM CFU-MegE MEP Meg/E progenitor colony forming unit erythroid megakaryocyte megakaryocyte/erythrocyte progenitor megakaryocyte/erythroid progenitor cell cell MEPs are reportedly CD19-negative, CD34-negative, CD45RA-negative, CD110-positive, CD117-positive, and SCA1-negative and reportedly express the transcription factors GATA-1 and NF-E2. megakaryocyte-erythroid progenitor cell A oligopotent progenitor cell committed to the lymphoid lineage. CL:0000044 CLP common lymphocyte precursor common lymphocyte progenitor common lymphoid precursor cell CLP ELP committed lymphopoietic stem cell early lymphocyte progenitor lymphoid stem cell lymphopoietic stem cell CLP are CD7-positive, CD10-positive, CD19-negative, CD34-positive, CD45RA-positive, CD79a-negative, CD127-positive, AA4.1-positive, RAG-negative, Sca-1-low, sIgM-negative, sIgD-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Expression of transcription factors include E2A-positive, EBF-positive, Ikaros-negative, PU.1-negative, and Pax5-negative. common lymphoid progenitor A stem cell from which all cells of the body can form. FMA:84790 MESH:D039901 totipotential stem cell totipotent stem cell A precursor cell with a limited number of potential fates. BTO:0000125 FMA:84782 blast cell cell define using PATO mulit-potent or oligopotent? non-terminally differentiated cell A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair. BTO:0000222 CALOHA:TS-0650 FBbt:00005083 FMA:70335 VHOG:0001529 cell myoblast A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped. BTO:0000452 CALOHA:TS-0362 FMA:63877 NCIT:C12482 VHOG:0001482 cell These cells may be vimentin-positive, fibronectin-positive, fsp1-positive, MMP-1-positive, collagen I-positive, collagen III-positive, and alpha-SMA-negative. fibroblast A cell that has a filiform extrusion of the cell surface. VHOG:0001532 XAO:0000031 ciliated cell A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. BTO:0000414 CALOHA:TS-2026 CARO:0000077 FBbt:00000124 FMA:66768 WBbt:0003672 epitheliocyte cell epithelial cell https://www.swissbiopics.org/api/image/Epithelial_cells.svg An epithelial cell that has a cilia. FMA:70605 ciliated epithelial cell An epithelial cell that is part of a duct. duct epithelial cell An endothelial cell that lines the vasculature. cuboidal endothelial cell of vascular tree blood vessel endothelial cell non-branched duct epithelial cell A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. columnar/cuboidal epithelial cell CALOHA:TS-1249 cell squamous epithelial cell A flattened epithelial cell of mesenchymal origin that lines the serous cavity. FMA:66773 mesotheliocyte mesothelial cell A cell found predominately in the blood. FMA:62844 MESH:D001773 cell blood cell An epithelial cell of the pancreas. BTO:0000028 pancreas epithelial cell pancreatic epithelial cell cell epithelial cell of pancreas A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. BTO:0000782 CALOHA:TS-1001 FMA:62870 MESH:D013601 VHOG:0001479 T lymphocyte T-cell T-lymphocyte immature T cell mature T cell T cell A specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes. This cell has the following markers: tartrate-resistant acid phosphatase type 5-positive, PU.1-positive, c-fos-positive, nuclear factor NF-kappa-B p100 subunit-positive, tumor necrosis factor receptor superfamily member 11A-positive and macrophage colony-stimulating factor 1 receptor-positive. BTO:0000968 CALOHA:TS-0721 FMA:66781 MESH:D010010 chondroclast Morphology: Highly vesicular; markers: Surface: RANK, cFMS (MCSF receptor); Secreted: cathepsin K and TRAP (tartate resistant acid phosphatase); transcription factors: PU.1, cFOS, MITF, NFkB (p52); role or process: tissue remodelling: bone resorption; lineage: hematopoietic, myeloid. osteoclast A leukocyte with abundant granules in the cytoplasm. BTO:0000539 BTO:0001026 CALOHA:TS-0422 FMA:62854 granular leucocyte granular leukocyte polymorphonuclear leukocyte granulocyte neuron associated cell A fully differentiated neutrophil, a granular leukocyte having a nucleus with three to five lobes connected by slender threads, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. They are produced in bone marrow at a rate of 5e10-10e10/day and have a half-life of 6-8 hours. Neutrophils are CD15-positive, CD16-positive, CD32-positive, CD43-positive, CD181-positive, and CD182-positive. poly polymorphonuclear leucocyte polymorphonuclear leukocyte BTO:0003473 PMN mature neutrocyte mature neutrophil leucocyte mature neutrophil leukocyte mature neutrophilic leucocyte mature neutrophilic leukocyte polymorphonuclear neutrophil polynuclear neutrophilic leucocyte polynuclear neutrophilic leukocyte Neutrophils are also capable of secreting GRO-alpha, IL-1beta, IL-1ra, IL-3, IL-12, IP-10, MIG, MIP-1alpha, MIP-1beta, TGF-beta, TNF-alpha, VEGF, and anti-microbial peptides. They can positively influence the chemotaxis of basophils, T-cells, monocytes, macrophages, dendritic cells, and other neutrophils. Neutrophils are also CD35-positive, CD64-positive, CD89-positive, CD184-positive, and fMLP receptor-positive Ly-6G-positive (mouse), TLR2-low, TLR4-low, and lineage-negative (CD2, CD3, CD5, CD9, CD19, CD36, CD49d, CD56, CD61, CD235a (glycophorin-A)). mature neutrophil A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development. BTO:0000830 CALOHA:TS-0603 FMA:66784 histaminocyte labrocyte mastocyte tissue basophil Mast cells are generally integrin beta-7-negative and positive for TLR2, TLR3, TLR4, TLR5, TLR7, TLR9, C3aR, C5aR, CR3, CR4, VEGF, FGF2, and renin. They can express MHC Class I and II on their surface. Activated murine mast cells (IgE+Antigen) were capable of expressing the following co-stimulatory molecules: CD95 (Fas), CD120b, CD137 (4-1BB), CD153 (CD30L), CD154 (CD40L), GITR, ICOSL, OX40L, PD-L1, and PD-L2. Note that there was some mouse strain variation. Mast cells have also been demonstrated to produce bFGF, CCL2, CCL4, CCL5, CCL11, CCL20, CXCL2, CXCL8, CXCL10, GM-CSF, IFN-gamma, IL-1, IL-2, IL-3, IL-8, IL-10, IL-11, IL-12, IL-13, IL-16, IL-25, IL-18, MIP-1, prostaglandin D2, SCF, TGF-beta, TNF-alpha, TSLP, VEGF, and XCL1. They express the transcription factors Transcription factors AP-1, GATA1, MITF, Notch2, PIAS3, PU.1, and STAT5. mast cell A vertebrate phagocyte with a single nucleus. BTO:0001433 mononuclear phagocyte An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm. BTO:0001176 CALOHA:TS-0278 FMA:66772 endotheliocyte From FMA: 9.07.2001: Endothelial cell has always been classified as a kind of epithelial cell, specifically a squamous cell but that is not true. First, endothelial cell can either be squamous or cuboidal (e.g. high-endothelial cell) and secondly, it has different embryological derivation (mesodermal) than a true epithelial cell (ectodermal and endodermal). The basis for present classification is the fact that it comprises the outermost layer or lining of anatomical structures (location-based) but a better structural basis for the differentia is the cytoskeleton of the cell. Endothelial cell has vimentin filaments while an epithelial cell has keratin filaments. [Onard]. endothelial cell A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. BTO:0002606 CALOHA:TS-0415 FBbt:00005144 FMA:54536 neuroglial cell neuroglia Not all glial cells develop from glioblasts, with microglia developing from the mesoderm instead. See https://github.com/obophenotype/cell-ontology/issues/1571 glial cell Ectoderm destined to be nervous tissue. neurectoderm cell neurectodermal cell A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs. CL:0002452 BTO:0002625 BTO:0003298 FMA:70546 BMSC bone marrow stromal cells colony-forming unit-fibroblast marrow stromal cells cell BMSC CFU-F MSC mesenchymal precursor cell mesenchymal progenitor cells mesenchymal stem cell mesenchymal stromal cell mesenchymal stromal cells stem cells, mesenchymal Many but not all mesenchymal cells derive from the mesoderm. MSCs are reportedly CD3-negative, CD4-negative, CD5-negative, CD8-negative, CD11a-negative, CD11b-negative, CD14-negative, CD19-negative, CD29-positive, CD31-negative, CD34-negative, CD38-negative, CD40-negative, CD44-positive, CD45-negative, CD49-positive, CD54-positive, CD66b-negative, CD79a-negative, CD80-negative, CD102-positive, CD106-positive, CD117-positive, CD121a-positive, CD121b-positive, CD123-positive, CD124-positive, CD133-negative, CD146-positive, CD166-positive, CD271-positive, B220-negative, Gr1-negative, MHCI-positive, MHCII-negative, SSEA4-negative, sca1-positive, Ter119-negative, and glycophorin A-negative. Cultured MSCs are capable of producing stem cell factor, IL7, IL8, IL11, TGF-beta, cofilin, galectin-1, laminin-receptor 1, cyclophilin A, and MMP-2. mesenchymal stem cell https://github.com/obophenotype/cell-ontology/issues/474 An inactive fibroblast; cytoplasm is sparse, endoplasmic reticulum is scanty with flattened nucleus. Term used by some histologists; when fibroblasts become relatively inactive in fiber formation. However, this cell has the potential for fibrogenesis in quiescent connective tissue of the adult, as well as during development, other histologists prefer to use the term fibroblast in all circumstances. These cells represent ~0.5% of peripheral blood leukocytes. FMA:63879 Cultured human fibrocytes are MHCI-positive, MHCII-positive, CD1a-negative, CD3-negative, CD4-negative, CD8-negative, CD10-negative, CD11b-positive, CD13-positive, CD14-negative, CD16-negative, CD18-positive, CD19-negative, CD25-negative, CD29-positive, CD32-positive, CD33-negative, CD34-positive, CD38-negative, CD40-positive, CD44-negative, CD45RO-positive, CD49a-positive, CD49b-positive, CD49c-negative, CD49d-negative, CD49e-positive, CD49f-negative, CD56-negative, CD58-positive, CD61-positive, CD64-positive, CD70-negative, CD71-positive, CD80-positive, CD83-negative, CD86-positive, CD103-negative, CD105-positive, CD181-positive, CD182-negative, CD183-positive, CD184-positive, CD185-negative, CD186-negative, CD191-positive, CD192-negative, CD193-positive, CD194-positive, CD195-positive, CD196-negative, CD197-positive, CD199-positive, desmin-negative, F4/80-positive, Gr1-positive, LSP-1-positive, MHCI-positive, MHCII-positive, alpha-SMA-negative, TCRab-negative, TCRgd-negative, and vimentin-positive. Fibrocytes are also capable of secreting angiogenin, bFGF, CCL2, CCL3, CCL4, CCL8, CXCL1, type I collagen, type III collagen, CTGF, fibronectin, GM-CSF, IL-1a, IL-6, IL-8, IL-10, M-CSF, MMP-9, PDGF-A, TGF-alpha, TGF-beta1, TNF-alpha, and VEGF-A. fibrocyte A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response. APC cell APC Note change of name; nearly all somatic cells can present antigens to T cells via MHC Class I complexes leading to effector responses, but professional antigen presenting cells constitutively express MHC Class II as well as costimulatory molecules, and thus can initiate immune responses via T cells. professional antigen presenting cell A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules. CALOHA:TS-2085 FMA:86494 cell glandular epithelial cell A cell that specializes in controlled release of one or more substances. BTO:0003659 FMA:86916 cell secretory cell cell protein secreting cell seromucus secreting cell A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. FMA:83809 endocrinocyte cell endocrine cell An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas. BTO:0003865 FMA:62930 cell enteroendocrine cell cell peptide hormone secreting cell BTO:0000783 cell insulin secreting cell A cell that secretes insulin and is located towards the center of the islets of Langerhans. beta cell BTO:0000783 EV:0200009 FMA:70586 MA:0002419 ncithesaurus:Beta_Cell B-cell of pancreatic islet beta cell of pancreatic islet insulin-secreting cell pancreatic B cell pancreatic B-cell pancreatic beta cell pancreatic islet core type B enteroendocrine cell cell beta cell islet Pancreatic beta cells are also reportedly CD284-positive. Upon activation, they upregulate their CD14 expression. type B pancreatic cell A cell whose primary function is to shorten. cell contractile cell An animal cell that has characteristics of both a fibroblast cell and a smooth muscle cell. MFB Myofibroblasts are alpha-SMA-positive, CD34-negative, CD45-negative. They are reportedly capable of secreting IL-1beta, IL-6, and TNF-alpha. myofibroblast cell A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. BTO:0000888 BTO:0000902 CALOHA:TS-2032 FBbt:00005074 FMA:67328 WBbt:0003675 muscle fiber myocyte cell muscle cell https://www.swissbiopics.org/api/image/Muscle_cells.svg A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast). CL:0000191 non-striated muscle cell BTO:0004576 CALOHA:TS-2159 FMA:14072 SMCs myocytes, smooth muscle smooth muscle fiber non-striated muscle cell cell smooth muscle cell A cell whose function is determined by the generation or the reception of an electric signal. cell electrically active cell A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism. boundary cell lining cell A cell located in the synovial joint. CALOHA:TS-0995 synoviocyte synovial cell A cell whose primary function is to prevent the transport of stuff across compartments. barrier cell A cell that moves by its own activities. cell motile cell A cell of the outer of the three germ layers of the embryo. FMA:72549 ectoderm cell ectodermal cell A cell of the middle germ layer of the embryo. FMA:72554 mesoblast mesoderm cell cell mesodermal cell A cell of the inner of the three germ layers of the embryo. FMA:72555 endoderm cell cell endodermal cell A cell that lacks a nucleus. FMA:68647 non-nucleated cell cell anucleate cell A cell with a single nucleus. cell single nucleate cell A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen. BTO:0000424 CALOHA:TS-0290 FMA:81100 RBC red blood cell cell erythrocyte A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. BTO:0000132 CALOHA:TS-0803 FMA:62851 anucleate thrombocyte blood platelet enucleate thrombocyte cell Platelets are reportedly CCR1-positive, CCR2-negative, CCR3-positive, CCR4-positive, CCR5-negative, CCR6-negative, CCR7-negative, CCR8-negative, CCR9-negative, CCR10-negative, CD16-positive, CD23-positive, CD32-positive, CD40-positive, CD41-positive CD42-positive, CD61-positive, CD62P-positive, CD64-positive, CD89-positive, CD102-positive, CD147-positive (activated platelets), CD154-positive (activated platelets), CD162-positive, CD209, CD282-positive, CD284-positive, CD289-positive, CD181-negative, CD182-negative, CD183-negative, CD184-positive, CLEC2-positive, GPVI-positive, JAMC-positive, PAR1-positive, PAR2-negative, PAR3-positive, PAR4-positive, TSP1-positive, and TXA2R-positive. Platelets can reportedly produce CCL2, CCL3, CCL5, CCL7, CCL17, CD40L, CXCL1, CXCL4, CXCL4L1, CXCL5, CXCL7, CXCL8, CXCL12, EGF, factor V, factor VII, factor XI, factor XIII, bFGF, histamine, IGF-1, IL-1beta, PAI-1, PDGF, plasminogen, protein S, serotonin, TGF-beta, TFPI, VEGF, and vWF. platelet Any cell capable of ingesting particulate matter via phagocytosis. BTO:0001044 FMA:83806 MESH:D010586 cell phagocyte A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. BTO:0000801 CALOHA:TS-0587 FMA:63261 FMA:83585 MESH:D008264 histiocyte cell Morphology: Diameter 30_M-80 _M, abundant cytoplasm, low N/C ratio, eccentric nucleus. Irregular shape with pseudopods, highly adhesive. Contain vacuoles and phagosomes, may contain azurophilic granules; markers: Mouse & Human: CD68, in most cases CD11b. Mouse: in most cases F4/80+; role or process: immune, antigen presentation, & tissue remodelling; lineage: hematopoietic, myeloid. macrophage A lymphocyte of B lineage that is capable of B cell mediated immunity. BTO:0000776 CALOHA:TS-0068 FMA:62869 MESH:D001402 VHOG:0001480 B lymphocyte B-cell B-lymphocyte cell B cell brush border epithelial cell A cell characteristically found lining hollow organs that are subject to great mechanical change due to contraction and distention; originally thought to represent a transition between stratified squamous and columnar epithelium. FMA:66778 cell transitional epithelial cell MESH:D005057 cell eukaryotic cell Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid. BTO:0003687 FMA:62511 serous cell serous secreting cell A cell that is specialised to accumulate a particular substance(s). cell stuff accumulating cell cell oxygen accumulating cell A cell derived from the specialized ectoderm flanking each side of the embryonic neural plate, which after the closure of the neural tube, forms masses of cells that migrate out from the dorsal aspect of the neural tube to spread throughout the body. FMA:86667 migratory neural crest cell A mesenchymal cell in embryonic development found in a contracting mass and that gives rise to osteoprogenitors. mesenchyme condensation cell A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation. epiblast cell ncithesaurus:Blastemal_Cell blastema cell cell blastemal cell A smooth muscle cell associated with the vasculature. VSMC vascular smooth muscle cell vascular associated smooth muscle cell Diploid cell produced by the fusion of sperm cell nucleus and egg cell. zygote BTO:0000854 EHDAA2:0004546 FMA:72395 animal zygote A cell whose function is determined by its response to an electric signal. cell electrically responsive cell A cell that initiates an electrical signal and passes that signal to another cell. electrically signaling cell A cell involved in the elimination of metabolic and foreign toxins, and in maintaining the ionic, acid-base and water balance of biological fluids. WBbt:0005812 excretory cell A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). BTO:0002042 CALOHA:TS-0194 FMA:83036 MESH:D003713 interdigitating cell veiled cell dendritic cell cell biogenic amine secreting cell A cell type that secretes 5-Hydroxytryptamine (serotonin). 5-HT secreting cell 5-Hydroxytryptamine secreting cell cell serotonin secreting cell A cell whose primary function is to protect the organism. cell defensive cell A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere. BTO:0002064 FMA:83624 stromal cell A precursor cell destined to differentiate into smooth muscle myocytes. FMA:84798 myoblast, smooth muscle cell satellite cell smooth muscle myoblast A phagocyte in vertebrates that is able to phagocytosis. phagocyte (sensu Vertebrata) The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. BTO:0000938 CALOHA:TS-0683 FBbt:00005106 FMA:54527 VHOG:0001483 WBbt:0003679 nerve cell These cells are also reportedly CD4-negative and CD200-positive. They are also capable of producing CD40L and IFN-gamma. neuron https://www.swissbiopics.org/api/image/Neuron_cells.svg A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. BTO:0000775 CALOHA:TS-0583 FMA:62863 MESH:D008214 VHOG:0001535 cell Editors note: consider adding taxon constraint to vertebrata (PMID:18025161) lymphocyte An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. FMA:83518 rubriblast cell pronormoblast proerythroblast cell animal cell A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers. FMA:83505 basophilic normoblast early erythroblast early normoblast prorubricyte cell basophilic erythroblast A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers. FMA:83506 intermediate erythroblast intermediate normoblast polychromatic erythroblast polychromatic normoblast polychromatophilic normoblast rubricyte cell polychromatophilic erythroblast The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated. FMA:84646 acidophilic erythroblast eosinophilic erythroblast late erythoblast orthochromatic normoblast pyknotic eto enrythroblast cell orthochromatic erythroblast The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative). BTO:0001164 CALOHA:TS-0610 FMA:84235 MESH:D055016 CFU-Meg Meg-CFC MkP colony-forming unit-megakaryocyte megacaryoblast megacaryocyte progenitor cell megakaryoblast megakaryocytic progenitor cell cell promegacaryocyte promegakaryocyte Lineage negative is described here as CD2-negative, CD3-negative, CD4-negative, CD5-negative, CD8a-negative, CD14-negative, CD19-negative, CD20-negative, CD56-negative, Ly6g-negative, and Ter119-negative. megakaryocyte progenitor cell A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm. A large hematopoietic cell (50 to 100 micron) with a lobated nucleus. Once mature, this cell undergoes multiple rounds of endomitosis and cytoplasmic restructuring to allow platelet formation and release. BTO:0000843 CALOHA:TS-0611 FMA:83555 megacaryocyte megalocaryocyte megalokaryocyte cell Megakaryocytes are reportedly CD181-positive and CD182-positive. megakaryocyte A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1. CFU-C , Colony forming unit in culture CFU-GM GMP colony forming unit granulocyte macrophage granulocyte-macrophage progenitor granulocyte/monocyte precursor granulocyte/monocyte progenitor cell CFU-GM GMP Originally described in the dendritic cell ontology (DC_CL:0000042)(PMID:19243617). GMPs are reportedly CD16-positive, CD32-positive, CD34-positive, CD38-positive, CD45RA-positive, CD110-negative, CD117-positive, CD123-positive, and SCA1-negative. granulocyte monocyte progenitor cell An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds. BTO:0001173 CALOHA:TS-0864 MESH:D012156 cell reticulocyte A precursor in the monocytic series, being a cell intermediate in development between the monoblast and monocyte. This cell is CD11b-positive and has fine azurophil granules. BTO:0004657 FMA:83551 cell Morphology: Mononuclear cell, diameter 14-18 _M, fine azurophilic granules; markers: CD11b (shared with many other myeloid cells); location: Adult: bone marrow; Fetal: Liver, Yolk Sac; role or process: hematopoiesis, monocyte development; lineage: hematopoietic, myeloid. promonocyte A mesenchymal stem cell capable of developing into blood vessel endothelium. angioblast chondroplast cell These cells are reportedly CD31-positive, CD34-positive, CD144-positive, CD309-positive, and TAL1-positive. angioblastic mesenchymal cell Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. BTO:0000876 CALOHA:TS-0638 FMA:62864 cell Morphology: Mononuclear cell, diameter, 14 to 20 _M, N/C ratio 2:1-1:1. Nucleus may appear in variety of shapes: round, kidney, lobulated, or convoluted. Fine azurophilic granules present; markers: CD11b (shared with other myeloid cells), human: CD14, mouse: F4/80-mid,GR1-low; location: Blood, but can be recruited into tissues; role or process: immune & tissue remodelling; lineage: hematopoietic, myeloid. monocyte experimentally modified cell in vitro A cell in vitro that has undergone physical changes as a consequence of a deliberate and specific experimental procedure. experimentally modified cell in vitro The reproductive cell in multicellular organisms. BTO:0000535 NCIT:C12597 VHOG:0001534 WBbt:0006796 germ cell A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells. large granular lymphocyte null cell BTO:0000914 BTO:0004716 CALOHA:TS-0664 FMA:63147 FMA:83601 MESH:D007694 VHOG:0001697 NK cell natural killer cell A cell whose primary function is to support other cell types. BTO:0002315 supportive cell cell supporting cell supportive cell A smooth muscle cell that synthesizes, stores, and secretes the enzyme renin. This cell type are located in the wall of the afferent arteriole at the entrance to the glomerulus. While having a different origin than other kidney smooth muscle cells, this cell type expresses smooth muscle actin upon maturation. juxtaglomerular cell FMA:84138 JG cell renin secreting cell kidney granular cell A cell type that encapsulates the capillaries and venules in the kidney. This cell secretes mesangial matrix that provides the structural support for the capillaries. BTO:0000853 CALOHA:TS-0617 FMA:70972 MESH:D050527 kidney mesangial cell Do all of these cells really develop from some mesenchymal stem cell? mesangial cell A specialized kidney epithelial cell, contained within a glomerulus, that contains "feet" that interdigitate with the "feet" of other podocytes. epithelial cell of visceral layer of glomerular capsule BTO:0002295 FMA:70967 glomerular podocyte glomerular visceral epithelial cell kidney podocyte renal podocyte podocyte https://github.com/obophenotype/cell-ontology/issues/1460 window cell fenestrated cell An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. CL:0000184 BTO:0002441 FMA:63174 ARC adventitial reticular cell cell of Rouget pericyte pericyte cell pericyte of Rouget cell adventitial cell Pericytes are CD10-positive, CD13-positive, CD31-negative, CD45-negative, CD106-positive, CD117-negative, CD140-positive, CD144-negative, CD146-positive, CD271-positive, CD325-positive, NG2-positive, RGS5-positive, SMA-positive, and desmin-positive. A subpopulation is CD248-positive. They are also capable of producing angiopoietin 1, CXCL12, TGF-beta, and VEGF-A. pericyte pericyte cell A non-terminally differentiated cell that is capable of developing into a muscle cell. cell muscle precursor cell A stem cell that can give rise to cell types of the body other than those of the germ-line. CALOHA:TS-2086 MESH:D053687 somatic stem cell A cell of a layer of transitional epithelium in the wall of the bladder, ureter, and renal pelvis, external to the lamina propria. A cell of a layer of transitional epithelium in the wall of the proximal urethra, bladder, ureter or renal pelvis, external to the lamina propria. FMA:84127 bladder transitional cell transitional epithelial cell of urinary bladder urinary tract transitional epithelial cell cell urothelial cell An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. BTO:0000751 CALOHA:TS-0549 FMA:62852 MESH:D007962 NCIT:C12529 immune cell leucocyte white blood cell cell immune cell leukocyte A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. BTO:0001441 CALOHA:TS-0647 MESH:D022423 cell myeloid cell A immature or mature cell in the lineage leading to and including erythrocytes. CL:0002156 CALOHA:TS-0290 FMA:62845 FMA:83516 erythropoietic cell cell Note that in FMA erythropoietic cells are types of nucleated erythrocytes and thus don't include erythrocytes. erythroid lineage cell A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers. BTO:0001571 CALOHA:TS-0289 FMA:83504 MESH:D004900 normoblast cell erythroblast A cell of the monocyte, granulocyte, or mast cell lineage. cell myeloid leukocyte Any of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation. A basophil is CD123-positive, CD193-positive, CD203c-positive, and FceRIa-positive. polymorphonuclear leucocyte polymorphonuclear leukocyte BTO:0000129 CALOHA:TS-0073 FMA:62862 basophilic leucocyte basophilic leukocyte Matures in the bone marrow and account for <1% of leukocytes in the peripheral blood, spleen, and bone marrow. Basophils are described as being CD11a-positive, CD11b-positive, CD13-positive, CD15-positive, CD18-positive, CD21-positive, CD25-positive, CD29-positive, CD35-positive, CD40-positive, CD40L-positive, CD44-positive, CD45R-negative, CD46-positive, CD49a-positive, CD49b-positive, CD49d-positive, CD55-positive, CD59-positive, CD62L-positive, CD63-positive, CD69-positive, CD90-negative, CD116-positive, CD117-negative, CD124-positive, CD125-positive, CD131-positive, CD161-positive, CD184-positive, CD191-positive, CD192-positive, CD197-positive, CD200R3-positive, CD218-positive, CD282-positive, CD284-positive, CD289-positive, CD290-positive, CD294-positive, natural killer cell receptor 2B4-positive, smad1-positive, CD3-negative, CD4-negative, CD7-negative, CD8-negative, CD14-negative, CD15-negative, CD16-negative, CD19-negative, CD20-negative, CD34-negative, CD36-negative, CD45R-negative, CD56-negative, CD57-negative, CD235a-negative, and GR1-negative. Transcription factors- GATA1-positive, PU.1-positive. basophil Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. PMN poly polymorphonuclear leucocyte polymorphonuclear leukocyte polymorphonuclear neutrophil polynuclear neutrophilic leucocyte polynuclear neutrophilic leukocyte BTO:0000130 CALOHA:TS-0688 FMA:62860 MESH:D009504 neutrocyte neutrophil leucocyte neutrophil leukocyte neutrophilic leucocyte neutrophilic leukocyte neutrophil A dendritic cell of the myeloid lineage. interdigitating cell veiled cell BTO:0004721 CD11c+CD123- DC mDC These cells are CD1a-negative, CD1b-positive, CD11a-positive, CD11c-positive, CD13-positive, CD14-negative, CD20-negative, CD21-negative, CD33-positive, CD40-negative, CD50-positive, CD54-positive, CD58-positive, CD68-negative, CD80-negative, CD83-negative, CD85j-positive, CD86-positive, CD89-negative, CD95-positive, CD120a-negative, CD120b-positive, CD123-negative, CD178-negative, CD206-negative, CD207-negative, CD209-negative, and TNF-alpha-negative. Upon TLR stimulation, they are capable of producing high levels of TNF-alpha, IL-6, CXCL8 (IL-8). myeloid dendritic cell A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen. mature B lymphocyte mature B-cell mature B-lymphocyte cell Mature B cells are also reportedly CD10-negative, CD19-positive, CD22-positive, CD34-negative, CD48-positive, CD79a-positive, CD84-positive, CD127-negative, CD352-positive, RAG-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Transcription factors expressed: Pax5-positive. mature B cell A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin. BTO:0000392 FMA:70574 MESH:D010950 plasma B cell plasma B-cell plasmacyte plasmocyte cell effector B cell effector B-cell Plasma cells develop in the spleen and migrate to the bone marrow. Plasma cells are also reportedly CD5-negative, CD10-negative, CD19-positive, CD20-negative, CD21-negative, CD22-negative, CD23-negative, CD24-negative, CD25-negative, CD27-positive, CD34-negative, CD38-positive, CD40-positive, CD43-positive, CD45-positive, CD48-positive, CD53-low, CD80-negative, CD81-positive, CD86-positive, CD95-positive, CD196-negative, CD229-positive, CD270-positive, CD352-positive, CD361-positive, and IgD-negative. Transcription factors: BLIMP1-positive, IRF4-positive, PAX5-negative, SpiB-negative, Ets1-negative, and XBP1-positive. plasma cell A T cell that expresses an alpha-beta T cell receptor complex. alpha-beta T lymphocyte alpha-beta T-cell alpha-beta T-lymphocyte alpha-beta T cell An alpha-beta T cell that has an immature phenotype and has not completed T cell selection. immature alpha-beta T lymphocyte immature alpha-beta T-cell immature alpha-beta T-lymphocyte immature alpha-beta T cell A alpha-beta T cell that has a mature phenotype. mature alpha-beta T lymphocyte mature alpha-beta T-cell mature alpha-beta T-lymphocyte mature alpha-beta T cell A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive. ISP T.ISP.th immature single positive T cell immature single positive T lymphocyte immature single positive T-lymphocyte Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and rearranging the T cell receptor alpha chain and expressing the CD8 coreceptor. This stage comes between the DN4 and DP stages. immature single positive thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive. DN2 alpha-beta immature T lymphocyte DN2 alpha-beta immature T-cell DN2 alpha-beta immature T-lymphocyte DN2 cell DN2 immature T cell TN2 cell TN2 thymocyte double negative 2 preT.DN2.Th Note that this type of thymocyte is at the earliest stage of T cell receptor rearrangement of the beta, gamma, and delta T cell receptor chains. Also, there is growing evidence that molecular markers characterizing double negative thymocytes are different across species, especially in mouse versus human thymus. If in doubt, please consider using CL:0002489 'double negative thymocyte'. DN2 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. early cortical thymocyte DN3 alpha-beta immature T lymphocyte DN3 alpha-beta immature T-cell DN3 alpha-beta immature T-lymphocyte DN3 cell DN3 immature T cell TN3 cell TN3 thymocyte double negative 3 preT.DN3.Th There is growing evidence that molecular markers characterizing double negative thymocytes are different across species, especially in mouse versus human thymus. If in doubt, please consider using CL:0002489 'double negative thymocyte'. DN3 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. early cortical thymocyte DN4 alpha-beta immature T lymphocyte DN4 alpha-beta immature T-lymphocyte DN4 cell DN4 immature T cell DN4 immature T-cell T.DN4.th double negative 4 Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and beginning to rearrange the T cell receptor alpha chain. There is growing evidence that molecular markers characterizing double negative thymocytes are different across species, especially in mouse versus human thymus. If in doubt, please consider using CL:0002489 'double negative thymocyte'. DN4 thymocyte A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. late cortical thymocyte DP cell DP thymocyte double-positive, alpha-beta immature T lymphocyte Thymocytes of this stage are undergoing positive and negative selection. double-positive, alpha-beta thymocyte A mature alpha-beta T cell of a distinct lineage that bears natural killer markers and a T cell receptor specific for a limited set of ligands. NK T cells have activation and regulatory roles particularly early in an immune response. mature NK T lymphocyte mature NK T-cell mature NK T-lymphocyte mature NKT cell mature natural killer T cell mature natural killer T lymphocyte mature natural killer T-cell mature natural killer T-lymphocyte mature NK T cell An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation. immature B lymphocyte immature B-cell immature B-lymphocyte newly formed B cell cell Immature B cells are also reportedly CD5-positive, CD10-positive, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD24-positive, CD25-negative, CD27-negative, CD34-negative, CD38-positive, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD79a-positive, CD80-negative, CD81-positive, CD86-negative, CD95-negative, CD127-negative, CD138-negative, CD185-positive, CD196-positive, MHCII/HLA-DR-positive, RAG-positive, TdT-negative, Vpre-B-negative, and preBCR-negative. Transcription factors expressed: Pax5-positive. immature B cell A precursor B cell is a B cell with the phenotype CD10-positive. BTO:0001133 CALOHA:TS-0819 cell pre-B cell precursor B cell An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen. transitional B cell transitional stage B lymphocyte transitional stage B-cell transitional stage B-lymphocyte T1 B cell T2 B cell T3 B cell cell This cell type is compatible with the HIPC Lyoplate markers for 'transitional B cell'. transitional stage B cell A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative. NKP natural killer cell progenitor pro-natural killer cell null cell preNK cell Most markers only described for human pro NK cells. pro-NK cell A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs. pre-pro B cell BTO:0003104 pro-B lymphocyte pro-B-cell pro-B-lymphocyte progenitor B cell progenitor B lymphocyte progenitor B-cell progenitor B-lymphocyte cell pre-B cell (Philadelphia nomenclature) Human pro-B cells are reportedly CD10-positive, CD22-positive, CD34-positive, CD38-positive, CD45-low, CD48-positive, CD79a-positive, CD127-positive, CD184-positive, RAG-positive, TdT-positive, Vpre-B-positive, pre-BCR-negative, IgD-negative, and IgM-negative. Transcription factors expressed: Pax5-positive, EBF-positive, E2A-negative, Ikaros-negative, and PU.1-negative. pro-B cell A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage. pro-T lymphocyte progenitor T cell DN1 cell DN1 thymocyte TN1 cell pro-T cell A progenitor cell of the mast cell lineage. Markers for this cell are FceRIa-low, CD117-positive, CD9-positive, T1/ST2-positive, SCA1-negative, and lineage-negative. MCP CFU-MC CFU-Mast colony forming unit mast cell MCP are CD16-positive, CD32-positive, CD34-positive, CD45-positive, integrin beta-7-positive, and lin-negative (CD2, CD3e, CD4, CD5, CD8a, CD14, CD19, CD20, CD27, integrin alpha-M, ly6c, ly6g, NCAM-1, and ter119). These cells also express the transcription factors GATA-1, GATA-2, and MITF, but not C/EBPa. mast cell progenitor A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans. BTO:0000725 CALOHA:TS-0448 MPP hemopoietic progenitor cell cell Markers differ between mouse and human. hematopoietic multipotent progenitor cell A progenitor cell restricted to the lymphoid lineage. lymphoid progenitor cell BTO:0004731 CALOHA:TS-2025 FMA:70338 cell Note that this is a class of cell types, not an identified single cell type. lymphoid lineage restricted progenitor cell A progenitor cell restricted to the myeloid lineage. myeloid progenitor cell BTO:0004730 CALOHA:TS-2099 FMA:70339 cell Note that this is a class of cell types, not an identified single cell type. myeloid lineage restricted progenitor cell A leukocyte with a single non-segmented nucleus in the mature form. BTO:0000878 CALOHA:TS-0768 FMA:86713 mononuclear leukocyte peripheral blood mononuclear cell cell mononuclear cell A monocyte that responds rapidly to microbial stimuli by secreting cytokines and antimicrobial factors and which is characterized by high expression of CCR2 in both rodents and humans, negative for the lineage markers CD3, CD19, and CD20, and of larger size than non-classical monocytes. inflammatory monocyte Markers: CCR2+CXCCR1<low> (human, mouse, rat). classical monocyte A macrophage which develops from an inflammatory monocyte and is recruited into the tissues in response to injury and infection as part of an inflammatory response. Markers include CD11b-positive, CD68-positive, and F4/80-positive. FMA:84643 FMA:84645 free macrophage wandering histiocyte Markers: CD11b+, CD68+; Mouse: F4/80+; role or process: immune, inflammation (inflammatory response). elicited macrophage A macrophage that suppresses immune responses. Markers: May express: IL10, TGFbeta. suppressor macrophage An elicited macrophage that is recruited into the tissues in response to injury and infection as part of an inflammatory response, expresses high levels of pro-inflammatory cytokines, ROS and NO, and shows potent microbicidal activity. classically activated macrophage M1 macrophage Markers: Express: TNFa, IL1b, IL6, iNOS, NADPH-oxidase; produce: reactive oxygen species, nitric oxide; role or process: immune, inflammation (inflammatory response). inflammatory macrophage A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. FMA:84642 FMA:84644 fixed macrophage resting histiocyte tissue-resident macrophage An elicited macrophage characterized by low production of pro-inflammatory and Th1 polarizing cytokines and high expression of arginase-1, and associated with tissue remodelling. M2 macrophage Role or process: tissue remodeling. alternatively activated macrophage A type of cell containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions. BTO:0003872 FMA:83586 MESH:D005487 foam cell An immature T cell located in the thymus. immature T cell immature T lymphocyte immature T-cell immature T-lymphocyte BTO:0001372 CALOHA:TS-1042 FMA:72202 MESH:D060168 XAO:0003159 thymic lymphocyte thymocyte A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative. DN1 thymic pro-T lymphocyte DN1 thymic pro-T-cell DN1 thymic pro-T-lymphocyte DN1 thymic progenitor T cell DN1 thymocyte double negative 1 preT.DN1.Th DN1 thymic pro-T cell An immature alpha-beta T-cell that express Egr2. These cells give rise to T cells expressing NK markers. immature NK T lymphocyte immature NK T-cell immature NK T-lymphocyte immature NKT cell immature NK T cell A lymphocyte of B lineage with the commitment to express an immunoglobulin complex. cell Types of B lineage lymphocytes include B cells and antibody secreting cells (plasmablasts and plasma cells). Lymphocytes of B cell lineage can be distinguished from those of T cell lineage by their lack of CD3e (as part of the T cell receptor complex). lymphocyte of B lineage A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin. cell antibody secreting cell A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes. small pre-BII cell cell Small pre-B-II cells are also reportedly CD10-positive, CD19-positive, CD34-negative, CD79a-positive, CD127-negative, TdT-negative, Vpre-B-negative, sIgM-negative, and sIgD-negative. Transcription factors: PU.1-positive, Ikaros-positive, E2A-positive, and PAX5-positive. small pre-B-II cell A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain. BTO:0001133 CALOHA:TS-0819 pre-B-lymphocyte pre-BII cell cell pre-B-II cell are also reportedly CD19-positive, CD22-positive, CD38-positive, CD45-positive, and CD48-positive. pre-B-II cell An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative. CD20-negative B cell FMA:84371 CD27-positive, CD38-positive, CD20-negative B cell cell This cell type is compatible with the HIPC Lyoplate markers for 'plasmablast'. Plasmablasts are also reportedly CD48-positive, CD63-positive, CD229-positive, CD270-positive, CD319-positive, CD352-positive, CD361-positive, and IgD-negative. plasmablast A cell of a hematopoietic lineage. BTO:0000574 CALOHA:TS-2017 FMA:70366 FMA:83598 haematopoietic cell haemopoietic cell hemopoietic cell cell hematopoietic cell Conventional dendritic cell is a dendritic cell that is CD11c-high. interdigitating cell veiled cell FMA:84191 DC1 cDC dendritic reticular cell type 1 DC Originally described in the dendritic cell ontology (DC_CL:0000003)(PMID:19243617) These cells are also CD20-negative, MHCII-positive. conventional dendritic cell CD71-positive common myeloid precursor OR CD7-negative lymphoid precursor OR CD7-positive lymphoid cell Originally described in the dendritic cell ontology (DC_CL:1100000)(PMID:19243617). CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor Interstitial dendritic cell is a conventional dendritic cell that is CD11b-positive, CD1a-positive, CD206-positive, CD209-positive, and CD36-positive. Originally described in the dendritic cell ontology (DC_CL:0000020)(PMID:19243617). These cells are also CD281-positive (TLR1), CD282-positive (TLR2), CD283-positive (TLR3), CD284-positive (TLR4), CD286-positive (TLR6), CD288-positive (TLR8), and CD290-positive (TLR10). interstitial dendritic cell cell Originally described in the dendritic cell ontology (DC_CL:1110000)(PMID:19243617). CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor A common lymphoid progenitor that is CD10-positive, CD45RA-positive, CD34-positive and CD38-positive. CD10-positive common lymphocyte precursor CD10-positive common lymphocyte progenitor CD10-positive common lymphoid precursor cell These markers are associated with human common lymphoid progenitors. Originally described in the dendritic cell ontology (DC_CL:0000032)(PMID:19243617). CD34-positive, CD38-positive common lymphoid progenitor CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive. CALOHA:TS-0448 FMA:86475 CD133-positive hematopoietic stem cell cell Cell markers are associated with human hematopoietic stem cells. Originally described in the dendritic cell ontology (DC_CL:0000035)(PMID:19243617). CD34-positive, CD38-negative hematopoietic stem cell A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative. CD71-positive common myeloid precursor cell Markers are associated with human cell type. Originally described in the dendritic cell ontology (DC_CL:0000038)(PMID:19243617). CD34-positive, CD38-positive common myeloid progenitor CD7-negative lymphoid progenitor cell is a lymphoid progenitor cell that is CD34-positive, CD7-negative and CD45RA-negative. CD7-negative lymphoid precursor cell These markers are associated with human cells. Originally described in the dendritic cell ontology (DC_CL:0000039)(PMID:19243617). CD7-negative lymphoid progenitor cell A connective tissue cell found in bone. 2011-11-16T04:28:16Z bone cell A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1. CMP common myeloid precursor, CD34-positive cell CFU-GEMM CFU-S CMP colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte multipotential myeloid stem cell myeloid stem cell pluripotent stem cell (bone marrow) CMP are reportedly CD16-positive, CD32-positive, CD38-positive, CD45RA-negative, CD110-negative, CD117-positive, CD123-positive, and SCA1-negative. common myeloid progenitor, CD34-positive A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers. tmeehan 2010-01-06T03:43:27Z cell hematopoietic oligopotent progenitor cell, lineage-negative A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. 2017-01-30T20:20:48Z innate lymphoid cell An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines. 2017-01-30T20:42:44Z group 1 innate lymphoid cell A lymphocyte of B lineage that is CD19-positive. https://orcid.org/0000-0001-9990-8331 cell Types of B lineage lymphocytes include B cells and antibody secreting cells (plasmablasts and plasma cells). Lymphocytes of B cell lineage can be distinguished from those of T cell lineage by their lack of CD3e (as part of the T cell receptor complex). lymphocyte of B lineage, CD19-positive A B cell that is CD19-positive. https://orcid.org/0000-0001-9990-8331 B lymphocyte, CD19-positive B-cell, CD19-positive B-lymphocyte, CD19-positive CD19+ B cell CD19-positive B cell cell B cell, CD19-positive A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages. tmeehan 2010-01-19T02:51:58Z MDP cell macrophage dendritic cell progenitor A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa 2010-04-27T12:46:33Z BMCP There may be an intermediate cell type. These cells also CD13-positive, CD16-positive, CD32-positive, and integrin beta 7-positive. Transcription factors: GATA1-positive, MCP-1-positive, mitf-positive, PU.1-positive, and CEBP/a-low. basophil mast progenitor cell A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells. tmeehan 2010-01-06T03:43:20Z cell hematopoietic lineage restricted progenitor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. tmeehan 2010-01-06T03:43:27Z cell This cell type is intended to be compatible with any vertebrate hematopoietic oligopotent progenitor cell. For mammalian hematopoietic oligopotent progenitor cells known to be lineage-negative, please use the term 'hematopoietic oligopotent progenitor cell' (CL_0001060). hematopoietic oligopotent progenitor cell A CD24-high, CD4-low, CD8-low, CD44-negative, NK1.1-negative NK T cell. 2009-10-29T04:09:16Z immature NK T cell stage I A CD24-low, CD44-negative, NK1.1-negative NK T cell. 2009-10-29T04:13:43Z NKT.44-NK1.1-.Th NKT.44-NK1.1-.Th was assigned as an exact synonym based on sorting strategy displayed at immgene.org. immature NK T cell stage II A CD24-low, CD44-positive, DX5-low, NK1.1-negative NK T cell. 2009-10-29T04:14:48Z NKT.44+.NK1.1-.Th immature NK T cell stage III A CD24-low, CD44-positive, DX5-high, NK1.1-negative NK T cell. 2009-10-29T04:17:38Z NKT.44+.NK1.1-.Th immature NK T cell stage IV A hematopoietic multipotent progenitor cell that is CD34-positive, CD38-negative, CD45RA-negative, and CD90-negative. tmeehan 2010-01-12T11:14:15Z cell Cell markers are associated with human hematopoietic multipotent progenitor cells. CD34-positive, CD38-negative multipotent progenitor cell An epithelial cell derived from endoderm. 2010-06-29T03:38:14Z FMA:69075 endo-epithelial cell An epithelial cell derived from ectoderm. 2010-06-29T03:38:22Z FMA:69074 ecto-epithelial cell Epithelial cell derived from mesoderm or mesenchyme. 2010-06-29T03:49:14Z FMA:69076 epithelial mesenchymal cell meso-epithelial cell A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. 2010-07-22T04:48:15Z BTO:0004850 FMA:83621 MESH:D001854 MH consider whether bone marrow cells are bone cells in the structural sense vs. being part of bone organ sense. bone marrow cell An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels. 2010-08-24T02:06:40Z BTO:0001854 CALOHA:TS-1106 FMA:67755 vascular endothelial cell cubodial endothelial cell of vascular tree These cells are reportedly CD31-positive, CD34-positive, CD144-positive, TAL1-positive. endothelial cell of vascular tree An endothelial cell found in capillaries. 2010-08-24T10:15:00Z BTO:0004956 CALOHA:TS-0112 FMA:67756 capillary endothelial cell A cell that is a specialized type of pericyte providing structural support for the capillary loops of kidney. A flat, elongated cell with extensive fine cytoplasmic processes found outside the kidney glomerulus near the macula densa and bound laterally by afferent and efferent arterioles. Being phagocytic, this cell participates in the continuous turnover of the basal lamina by removing its outer portion containing residues of filtration, while the lamina is renewed on its inner surface by the endothelial cells. 2010-08-25T02:20:55Z FMA:84143 KUPO:0001033 Goormaghtigh cell polar cushion cells lacis cell extraglomerular mesangial cell An endothelial cell found in the glomerulus of the kidney. This cell is flattened, highly fenestrated, and plays a vital role in the formation of glomerular ultrafiltrate. 2010-08-26T10:59:44Z BTO:0004632 FMA:70970 glomerular endothelial cell A cell involved in the formation of a granulocyte. 2010-08-30T12:54:27Z FMA:83519 granulocytopoietic cell A cell involved in the formation of a monocyte (monopoiesis). tmeehan 2010-08-30T01:27:48Z FMA:83552 cell monopoietic cell A renal intercalated cell that secretes base and reabsorbs acid in the distal segments of the kidney tubule to maintain acid/base balance. 2010-09-02T01:43:55Z type B intercalated cell type B-IC renal beta-intercalated cell A cell containing at least one nucleus. tmeehan 2010-09-07T03:32:33Z FMA:67513 cell nucleate cell A cell type that secretes histamine. 2010-09-10T03:04:42Z histamine secreting cell An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies. 2010-09-13T02:34:22Z CALOHA:TS-1040 FMA:72208 epithelial cell of thymus gland epithelial reticular cell epithelial reticular cell of thymus thymic epithelial cell epithelial cell of thymus An epithelial cell of the distal convoluted tubule of the kidney that helps regulate systemic levels of potassium, sodium, calcium, and pH. FMA:70981 KUPO:0001055 kidney distal tubule epithelial cell epithelial cell of distal tubule An epithelial cell of the proximal tubule of the kidney. FMA:70973 KUPO:0001044 kidney proximal tubule epithelial cell epithelial cell of proximal tubule A brush border epithelial cell located in the proximal tubule of the kidney that detects fluid flow. 2010-09-14T11:29:20Z brush border cell of the proximal tubule A cell that is part of the nervous system. 2010-09-15T01:34:57Z CALOHA:TS-2040 FMA:70333 neural cell A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone. tmeehan 2010-09-15T03:01:54Z CL:1000406 CALOHA:TS-2096 FMA:63875 MESH:D003239 cell connective tissue cell A cell of the embryo. tmeehan 2010-09-15T03:39:21Z CALOHA:TS-0263 FMA:82840 FMA:82841 WBbt:0007028 cell embryonic cell (metazoa) A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1. tmeehan 2010-09-21T04:41:06Z pancreatic endocrine progenitor pancreatic islet progenitor cell cell progenitor cell of endocrine pancreas A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). tmeehan 2010-09-24T09:44:42Z BTO:0001268 FMA:72300 WBbt:0008378 cell somatic cell A T cell that expresses a T cell receptor complex and has completed T cell selection. 2010-10-12T01:56:15Z CD3e-positive T cell mature T-cell CD3epsilon T cell mature T cell A T cell that has not completed T cell selection. 2010-10-12T01:56:17Z BTO:0001372 CALOHA:TS-1042 immature T-cell immature T cell A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive. 2010-10-21T01:16:24Z ETP preT.ETP.Th ETPs are reportedly CD1a-negative, CD4-negative, CD7-positive, CD8a-negative, CD8b-negative, CD33-low, CD34-high, CD38-low, CD45RA-positive, and CD45RO-negative. early T lineage precursor A conventional dendritic cell that expresses CD11b (ITGAM). 2010-11-23T01:50:05Z CD11b-positive dendritic cell A thymocyte that lacks expression of CD4 and CD8. 2010-12-06T03:03:38Z CD4-CD8- T cell double negative T cell These are precursors to mature T cells; normally, they do not circulate, but are found in the thymus and they have not undergone rearrangement of the alpha and beta T cell receptor genes. double negative thymocyte A cell located in the heart, including both muscle and non muscle cells. tmeehan 2010-12-07T09:37:22Z BTO:0001539 CALOHA:TS-0115 FMA:83808 FMA:84791 heart cell cell From Onard of the FMA: Cardiac muscle cell or cardiac myocyte is a striated muscle cell. Cardiocyte on the other hand is any cell in the heart which includes cells other than muscle cells (e.g. endothelial cell of endocardium). Unless there is a consensus among anatomists that cardiocytes refer only to muscle cells, we will treat them as a general class of cells in the heart. cardiocyte An epithelial cell of the kidney. 2011-02-08T10:46:34Z KUPO:0001019 kidney epithelial cell An interrenal epithelial kidney cell is an epithelial cell found in the anterior kidney of teleosts fish. This cell type is arranged in layers around the posterior cardinal vein and contains many mitochondria with tubulovesicular cristae. Interrenal chromaffin cells are interspersed among the tissue layer created by this cell type. 2011-02-08T11:03:32Z interrenal epithelial cell A renal filtration cell is a specialized cell of the renal system that filter fluids by charge, size or both. 2011-02-08T01:37:59Z renal filtration cell A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the mesonephros. 2011-02-08T01:58:30Z mesonephric glomerular visceral epithelial cell mesonephric podocyte A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the metanephros. 2011-02-08T02:02:13Z metanephric glomerular visceral epithelial cell metanephric podocyte An endothelial cell that is part of the vein. 2011-02-28T03:48:11Z FMA:62104 KUPO:0001099 endothelial cell of vein venous endothelial cell vein endothelial cell An endothelial progenitor cell that participates in angiogenesis during development. 2011-02-28T04:20:39Z See CL:0002619. embryonic blood vessel endothelial progenitor cell A glial cell that myelinates or ensheathes axons in the peripheral nervous system. 2011-03-02T01:19:27Z BTO:0001220 CALOHA:TS-0898 MESH:D012583 A myelinating Schwann cell wraps around a single axon. Myelination occurs in larger diameter axons, while a process called ensheathment occurs on smaller diameter axons in which a single cell wraps around multiple small, unmyelinated axons separating them with a thin layer of cytoplasm. The structure formed is called a Remak bundle. Schwann cell An epithelial cell of the kidney cortex. KUPO:0001016 renal cortical epithelial cell A cell that is part of a cortex of kidney. 2011-10-25T03:49:41Z kidney cortical cell A cuboidal epithelial cell of the kidney which regulates sodium and potassium balance. The activity of sodium and potassium channels on the apical membrane of the cell is regulated by aldosterone and vasopressin. In mammals this cell type is located in the renal collecting duct system. renal principal cell A cuboidal epithelial cell of the kidney that regulates acid/base balance. FMA:86560 intercalated cell Intercalated cells are also called “mitochondria-rich cells”, reflecting the high levels of round mitochondria at their apical pole, or in their cytoplasm, a distribution that is quite different from that of other kidney tubule cells, which accumulated mitochondria around the basolateral membrane. These cells also have numerous irregular apical microvilli compared with the surrounding segment-specific cells. Intercalated cells lack a central cilium, at least in the cortex, which also differentiates them from the adjacent principal cells. renal intercalated cell A cuboidal epithelial cell of the kidney which secretes acid and reabsorbs base to regulate acid/base balance. type A intercalated cell type A-IC Type A intercalated cells are the more abundant type of intercalated cell in the outer stripe of the outer medulla in most mammalian species. renal alpha-intercalated cell Cell that has the potential to form a skeletal cell type (e.g. cells in periosteum, cells in marrow) and produce extracellular matrix (often mineralized) and skeletal tissue (often mineralized). 2012-06-15T02:51:27Z scleroblast Needs logical definition. Should be capable_of skeletal system morphogenesis? or skeletal tissue development? needs to be added to GO. NOTES:a cell type of the early embryo (see also: mesenchymal cells) that will give rise to mineralized connective tissue. Scleroblasts can differentiate into osteoblasts (bone-forming cells), chondroblasts (cartilage-forming cells), odontoblasts (dentin-forming cells), ameloblasts (enamel-forming cells). The mesenchymal cells developing into osteoblasts and chondroblasts are derived from the mesoderm. Those developing into odontoblasts are neural crest cells. Those developing into ameloblasts are derived from the ectoderm. (http://www.copewithcytokines.de/cope.cgi?key=scleroblasts) skeletogenic cell Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells. 2012-06-27T08:27:35Z premigratory neural crest cell Any muscle cell in which the fibers are not organised into sarcomeres. non-striated muscle cell Any hematopoietic cell that is a precursor of some other hematopoietic cell type. hematopoietic precursor cell A muscle cell that is part of some visceral muscle A muscle cell that is part of some visceral muscle. FBbt:00005070 visceral muscle cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. mesenchyme cell mesenchymal cell An endocrine cell that is part of the pancreas. cell pancreatic endocrine cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. dos 2020-02-29T17:33:55Z mural cell 2020-02-29T17:37:00Z microcirculation associated smooth muscle cell A kidney cortical cell that is part of the nephrogenic zone. cortical nephrogenic niche cell cortical nephrogenic zone cell nephrogenic zone cell A zygote in a plant or an animal. MESH:D015053 zygote A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. neural crest cell A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. progenitor cell A cell that, by division or terminal differentiation, can give rise to other cell types. Work is needed on GO 'cell differentiation' before it is clear whether the equivalent class definition 'native cell' that capable_of some 'cell differentiation' works. Also, may want to consider merging this with non-terminally differentiated cell. precursor cell Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. 2010-05-25T01:36:34Z neutrophillic cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. 2009-12-22T04:23:25Z eosinophilic acidophilic cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. 2009-12-22T04:24:54Z basophilic cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. 2009-12-28T04:25:23Z polychromatophilic cytoplasm Heterochromatin that is arranged in a carthwheel pattern. 2009-12-28T04:28:35Z cartwheel heterochromatin A smooth muscle cell that is part of any blood vessel. 2020-07-21T12:42:48Z smooth muscle cell of blood vessel blood vessel smooth muscle cell mesonephric nephron tubule epithelial cell pronephric nephron tubule epithelial cell metanephric nephron tubule epithelial cell An endothelial cell that is part of the arteriole. FMA:67760 KUPO:0001097 endothelial cell of arteriole A blood vessel endothelial cell that is part of an arterial endothelium. BTO:0004758 FMA:67761 KUPO:0001095 arterial endothelial cell endothelial cell of artery An epithelial cell that is part of the nephron. FMA:70965 epithelial cell of nephron An epithelial cell that is part of the glomerular capsule. FMA:70966 KUPO:0001034 Bowmans capsule epithelial cell epithelial cell of Bowman's capsule epithelial cell of glomerular capsule An epithelial cell that is part of the glomerular parietal epithelium. FMA:70968 KUPO:0001035 epithelial cell of parietal layer of glomerular capsule parietal epithelial cell An epithelial cell that is part of the intermediate tubule. FMA:70980 epithelial cell of intermediate tubule An epithelial cell that is part of the collecting duct of renal tubule. FMA:70982 KUPO:0001059 epithelial cell of renal collecting tubule kidney collecting duct epithelial cell An epithelial cell that is part of a nephron tubule. FMA:86785 KUPO:0001022 kidney tubule epithelial cell This needs to be further defined as a juxtamedullary nephron. Will request the juxtamedullary nephron tubule class from UBERON. nephron tubule epithelial cell A cell that is part of a kidney. KUPO:0001010 kidney cell A cell that is part of kidney interstitium. KUPO:0001013 kidney interstitial cell A cell that is part of a renal medulla. KUPO:0001017 kidney medulla cell A cell that is part of a renal pelvis. KUPO:0001018 kidney pelvis cell A cell that is part of a nephron tubule. KUPO:0001020 kidney tubule cell KUPO:0001023 kidney glomerular epithelial cell An epithelial cell that is part of a renal medulla collecting duct. KUPO:0001060 kidney medulla collecting duct epithelial cell An epithelial cell that is part of some inner medullary collecting duct. KUPO:0001061 kidney inner medulla collecting duct epithelial cell An epithelial cell that is part of an outer medullary collecting duct. KUPO:0001062 kidney outer medulla collecting duct epithelial cell An epithelial cell that is part of a cortical collecting duct. KUPO:0001063 kidney cortex collecting duct epithelial cell KUPO:0001064 kidney papillary duct principal epithelial cell KUPO:0001111 inner renal cortex cell A cell that is part of a tip of a renal papilla. KUPO:0001112 papillary tips cell KUPO:0001015 kidney nerve cell KUPO:0001021 kidney corpuscule cell KUPO:0001024 kidney cortex tubule cell KUPO:0001025 kidney outer medulla cell KUPO:0001026 kidney inner medulla cell KUPO:0001028 juxtaglomerulus cell juxtaglomerular complex cell KUPO:0001091 kidney cortex interstitial cell KUPO:0001092 kidney medulla interstitial cell KUPO:0001101 kidney interstitial myofibroblast KUPO:0001102 kidney interstitial fibroblast KUPO:0001103 kidney interstitial fibrocyte KUPO:0001106 kidney interstitial alternatively activated macrophage KUPO:0001107 kidney interstitial inflammatory macrophage KUPO:0001108 kidney interstitial suppressor macrophage A tissue-resident macrophage that is part of some kidney. KUPO:0001109 kidney resident macrophage KUPO:0001110 kidney resident dendritic cell KUPO:0001113 kidney pelvis smooth muscle cell KUPO:0001114 kidney pelvis urothelial cell KUPO:0001130 kidney cortex collecting duct principal cell KUPO:0001131 kidney cortex collecting duct intercalated cell Principal cell that is part of some outer medullary collecting duct. It is known in some mammalian species that this cell may express the epithelial sodium channel (ENaC). KUPO:0001132 kidney outer medulla collecting duct principal cell Intercalated cell that is part of some outer medullary collecting duct. It is known in some mammalian species that this cell may contribute in the maintenance of acid/base homeostasis. KUPO:0001133 kidney outer medulla collecting duct intercalated cell KUPO:0001134 kidney inner medulla collecting duct principal cell KUPO:0001135 kidney inner medulla collecting duct intercalated cell KUPO:0001136 kidney papillary duct intercalated cell KUPO:0001137 kidney papillary duct principal cell A mesangial cell located among the glomerular capillaries in a renal corpuscle. KUPO:0001032 intraglomerular mesangial cell Like smooth muscle, a glomerular mesangial cell is contractile and possesses the filaments actin and myosin. The contractile mechanism is also similar to that of smooth muscle, with Ca2+/calmodulin-activated myosin light-chain kinase instigating myosin-actin cross-bridge cycling. Mesangial cell phagocytosis of apoptotic neutrophils involves a novel CD36-independent, alpha(v)beta3/TSP-mediated mechanism that is uncoupled from chemokine secretion, emphasizing the injury-limiting potential of mesangial cell phagocytosis of apoptotic cells. glomerular mesangial cell KUPO:0001036 glomerular cell KUPO:0001058 kidney connecting tubule epithelial cell KUPO:0001093 kidney inner medulla interstitial cell KUPO:0001094 kidney outer medulla interstitial cell KUPO:0001045 kidney proximal convoluted tubule epithelial cell KUPO:0001046 kidney proximal straight tubule epithelial cell KUPO:0001056 kidney distal convoluted tubule epithelial cell KUPO:0001057 macula densa epithelial cell KUPO:0001014 kidney blood vessel cell KUPO:0001029 kidney arterial blood vessel cell KUPO:0001030 kidney capillary endothelial cell KUPO:0001031 kidney venous blood vessel cell KUPO:0001047 kidney loop of Henle epithelial cell KUPO:0001037 glomerular capillary endothelial cell KUPO:0001038 kidney afferent arteriole cell KUPO:0001041 kidney efferent arteriole cell KUPO:0001048 kidney loop of Henle ascending limb epithelial cell KUPO:0001053 kidney loop of Henle descending limb epithelial cell An endothelial cell that is part of some peritubular capillary. KUPO:0001065 peritubular capillary endothelial cell KUPO:0001068 vasa recta cell KUPO:0001077 kidney cortex artery cell KUPO:0001084 kidney cortex vein cell KUPO:0001096 Note that the source of this term is KUPO:0001096 (artery smooth muscle cell), which we believe actually denotes the kidney specific structure. kidney artery smooth muscle cell KUPO:0001098 Note that the source of this term is KUPO:0001098 (arteriole smooth muscle cell), which we believe actually denotes the kidney specific structure. kidney arteriole smooth muscle cell KUPO:0001100 Note that the source of this term is KUPO:0001068 (venous system smooth muscle cell), which we believe actually denotes the kidney specific structure. kidney venous system smooth muscle cell KUPO:0001039 kidney afferent arteriole endothelial cell KUPO:0001040 kidney afferent arteriole smooth muscle cell KUPO:0001042 kidney efferent arteriole endothelial cell KUPO:0001043 kidney efferent arteriole smooth muscle cell An epithelial cell that is part of some loop of Henle thick ascending limb. It is known in some mammalian species that this cell may express the Na+-K+-2Cl− cotransporter (NKCC2) apically. KUPO:0001049 kidney loop of Henle thick ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thin ascending limb. KUPO:0001050 kidney loop of Henle thin ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb segment located in the renal medulla. KUPO:0001051 kidney loop of Henle medullary thick ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thick ascending limb segment located in the renal cortex. KUPO:0001052 kidney loop of Henle cortical thick ascending limb epithelial cell An epithelial cell that is part of some loop of Henle thin descending limb. KUPO:0001054 kidney loop of Henle thin descending limb epithelial cell KUPO:0001066 kidney outer medulla peritubular capillary cell KUPO:0001067 kidney cortex peritubular capillary cell KUPO:0001069 inner renal medulla vasa recta cell KUPO:0001070 outer renal medulla vasa recta cell A cell that is part of some vasa recta ascending limb. KUPO:0001074 It is known in some mammalian species that this cell may express PV-1, a component of the fenestral diaphragm. vasa recta ascending limb cell KUPO:0001078 arcuate artery cell KUPO:0001081 interlobular artery cell KUPO:0001085 arcuate vein cell KUPO:0001088 interlobular vein cell KUPO:0001075 inner medulla vasa recta ascending limb cell KUPO:0001076 outer medulla vasa recta ascending limb cell KUPO:0001079 arcuate artery endothelial cell KUPO:0001080 arcuate artery smooth muscle cell KUPO:0001082 interlobulary artery endothelial cell KUPO:0001083 interlobulary artery smooth muscle cell KUPO:0001086 arcuate vein endothelial cell KUPO:0001087 arcuate vein smooth muscle cell KUPO:0001089 interlobulary vein endothelial cell KUPO:0001090 interlobulary vein smooth muscle cell A cell that is part of a collecting duct of renal tubule. KUPO:0001012 Wikipedia:Kidney_collecting_duct_cell kidney collecting duct cell A cell that is part of some vasa recta descending limb. KUPO:0001071 It is known in some mammalian species that this cell may express the urea transporter B. vasa recta descending limb cell KUPO:0001072 inner medulla vasa recta descending limb cell KUPO:0001073 outer medulla vasa recta descending limb cell A pericyte cell located in the kidney interstitium. KUPO:0001104 renal interstitial pericyte KUPO:0001120 cell bladder cell KUPO:0001121 cell bladder urothelial cell KUPO:0001128 kidney collecting duct principal cell KUPO:0001129 http://en.wikipedia.org/wiki/Collecting_duct_system#Intercalated_cells kidney collecting duct intercalated cell Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes. CALOHA:TS-2109 bone marrow hematopoietic cells bone marrow poietic cells bone marrow hematopoietic cell Any blood vessel endothelial cell that is part of a microvascular endothelium. 2014-06-04T15:07:42Z CL:2000008 microvascular endothelial cell A neuron that is part of a peripheral nervous system. 2014-06-25T02:28:17Z FMA:84664 PNS neuron peripheral neuron CL:2000032 peripheral nervous system neuron A renal beta-intercalated cell that is part of the cortical collecting duct. The medullary collecting duct does not contain the renal beta-intercalated cell type. 2022-09-14T16:19:11Z B-IC kidney collecting duct intercalated cell type B kidney collecting duct beta-intercalated cell A specialized epithelial cell that contains "feet" that interdigitate with the "feet" of other glomerular epithelial cells in the pronephros. 2022-03-11T14:38:32Z pronephric glomerular visceral epithelial cell pronephric podocyte Epithelial cell that is part of segment 1 (S1) of the proximal tubule epithelium. 2022-05-10T13:14:00Z epithelial cell of segment 1 of proximal tubule epithelial cell of proximal tubule segment 1 Epithelial cell that is part of segment 2 (S2) of the proximal tubule epithelium. 2022-05-10T13:26:13Z epithelial cell of segment 2 of proximal tubule epithelial cell of proximal tubule segment 2 Epithelial cell that is part of segment 3 (S3) of the proximal tubule epithelium. 2022-05-10T13:31:06Z epithelial cell of segment 3 of proximal tubule epithelial cell of proximal tubule segment 3 Epithelial cell of the descending thin limb of the short loop (cortical) nephron limited to the outer medulla (mainly inner strip). It is known in some mammalian species that the short descending limb of the loop of Henle selectively expresses the serine protease Corin, the homeobox TF Uncx, and the urea channel Slc14a2. 2022-05-13T11:00:29Z epithelial cell of the descending thin limb of the short loop of Henle kidney loop of Henle short descending thin limb epithelial cell Epithelial cell of the descending thin limb of the long loop (juxtamedullary) nephron that spans the outer medulla (inner stripe). It is known in some mammalian species that the long descending limb of the loop of Henle in the outer medulla selectively expresses the secreted activin-antagonist protein follistatin (Fst), the GPI-linked adhesion protein Cdh13, and the protein kinase Stk32a. 2022-05-13T11:11:07Z epithelial cell of the outer medulla of the long descending limb of the loop of Henle kidney loop of Henle long descending thin limb outer medulla epithelial cell Epithelial cell of the descending thin limb of the long loop (juxtamedullary) nephron that spans the inner medulla. It is known in some mammalian species that the long descending limb of the loop of Henle in the inner medulla selectively expresses the nuclear receptor Nr2e3, the Ig kappa chain Igkc, and the secreted protein dermokine (Dmkn). SLC14A2, which expresses a urea transporter, is also expressed in the inner medulla. 2022-05-13T11:16:54Z epithelial cell of the inner medulla of the long descending limb of the loop of Henle kidney loop of Henle long descending thin limb inner medulla epithelial cell A renal alpha-intercalated cell that is part of the collecting duct of the renal tubule. 2022-05-31T11:15:10Z kidney collecting duct intercalated cell type A kidney collecting duct alpha-intercalated cell An epithelial cell located in the early distal convoluted tubule. 2022-06-21T12:47:48Z DCT1 cell epithelial cell of early distal convoluted tubule An epithelial cell located in the late distal convoluted tubule. 2022-06-21T13:51:46Z DCT2 cell Although mineralocorticoid receptors are expressed throughout the entire [distal convoluted tubule], the DCT2 is sensitive to the actions of aldosterone, because it expresses an enzyme called 11-β hydroxysteroid dehydrogenase 2 (11-βHSD2) epithelial cell of late distal convoluted tubule A renal principal cell located in the connecting tubule. 2022-06-27T15:25:10Z kidney connecting tubule principal cell A renal intercalated cell that is part of the renal connecting tubule. 2022-06-29T11:25:22Z kidney connecting tubule intercalated cell A renal alpha-intercalated cell that is part of the renal connecting tubule. 2022-06-29T12:48:43Z connecting tubule A-IC kidney connecting tubule intercalated cell type A kidney connecting tubule alpha-intercalated cell A renal beta-intercalated cell that is part of the renal connecting tubule. 2022-06-29T14:31:18Z connecting tubule B-IC kidney connecting tubule intercalated cell type B kidney connecting tubule beta-intercalated cell A fibroblast that is located in the renal medulla interstitium. 2022-07-05T12:13:40Z kidney medullary fibroblast It has been noted that inner medullary fibroblasts are involved in the regulation of water and electrolyte homeostasis. renal medullary fibroblast A fibroblast that is located in the renal cortical interstitium. 2022-07-05T15:50:17Z kidney cortical fibroblast Renal cortical fibroblasts have key roles in mediating intercellular communication with neighboring/infiltrating cells and extracellular matrix and maintenance of renal tissue architecture. They additionally have an endocrine function in the production of epoetin. renal cortical fibroblast Any cell that is located within the interstitium between the cells most prominent in defining a given tissue. "Interstitial cell" is a morphological term and refers to a variety of cells with differing origins and phenotypes. 2022-11-30T14:35:08Z interstitial cell A CD24-positive, CD-133-positive, vimentin-positive cell found scattered throughout a renal proximal tubule and that may participate in tubular regeneration. Compared to other proximal tubular cell types, this cell contains less cytoplasm, fewer mitochondria and no brush border. 2023-03-07T14:17:39Z CD133+CD24+CD106- tubular cell CD24+CD133+ tubular cell CD24-positive tubular cell After acute tubular injury, this cell type becomes more numerous. In healthy rat kidneys, this cell is not detectable, whereas after unilateral ureteral obstruction (renal injury), it may appear de novo, arguing against the notion that this cell type represents a pre-existing progenitor cell population. In at least one study, data indicate that this cell type represents transiently dedifferentiated tubular cells involved in regeneration. CD24-positive, CD-133-positive, vimentin-positive proximal tubular cell An epithelial cell that is part of a ureteric bud. A ureteric bud cell has the potential to induce metanephric mesenchymal cells to proliferate and convert to epithelia that form renal tubules via: (1) the secretion of multiple diffusible growth factors that rescue renal progenitors from apoptosis and stimulate them to proliferate and (2) contact-dependent mechanisms that induce mesenchymal-epithelial conversion. https://orcid.org/0000-0002-1425-877X 2023-10-13T11:22:42Z UB cell ureteric bud cell A cell that is adjacent to a vessel. A perivascular cell plays a crucial role in maintaining vascular function and tissue homeostasis. This cell type regulates vessel integrity and flow dynamics. 2023-08-22T13:40:28Z perivascular cell 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 measurement 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. heart rate Measurement of the pressure, or force per area, exerted by circulating blood against the walls of the blood vessels. The pressure is dependent on the energy of the heart action, elasticity of the vessel walls and volume and viscosity of the blood. Not4Curation blood pressure measurement The maximum arterial pressure within the cardiac cycle, i.e. at the point at which the heart is in its maximal state of contraction. This is the time when the blood is forced from the ventricles of the heart into the pulmonary artery and the aorta. systolic blood pressure The minimum arterial pressure within the cardiac cycle, usually at the point at which the heart is in a state of relaxation and expansion. This is the time when the ventricles fill with blood. diastolic blood pressure The minimum pressure in the heart left ventricle, usually at the point at which the heart is in a state of relaxation and expansion and the ventricles fill with blood. left ventricular diastolic blood pressure Measurement of the pressure within the heart left ventricle at the point of maximal contraction, when the blood is forced from the left ventricle into the aorta. left ventricular systolic blood pressure A blood pressure measurement which has been normalized or adjusted by a mathematical process or computation. Blood pressure is the pressure, or force per area, exerted by circulating blood against the walls of the blood vessels. The pressure is dependent on the energy of the heart action, elasticity of the vessel walls and volume and viscosity of the blood. Not4Curation calculated blood pressure The average blood pressure within an artery over a specified period of time. It is often calculated using the formula of one third systolic pressure plus two thirds diastolic pressure, or alternatively, using the formula diastolic pressure plus 1/3 of the difference between systolic pressure and diastolic pressure (i.e. 1/3 pulse pressure). mean arterial blood pressure A calculated value for the difference between the systolic blood pressure and the diastolic blood pressure at a given point in time when measured in an isolated organ or vessel under conditions where perfusion pressure or flow can be controlled. developed blood pressure The level of heat in an organism. body temperature A measurement of the physical form or structure of the heart, the chambered, muscular organ in vertebrates that pumps blood received from the veins into the arteries, thereby maintaining the flow of blood through the entire circulatory system. This is the term which was just "heart measurement". Since it was under body morphological measurement it seemed to clearly refer to a morphological measurement. I made this term more specific so that another term for "heart measurement" could be added to the ontology above it which would also be a parent to other non-morphological heart-related terms. JRS 2-15-2012. heart morphological measurement The heaviness of the heart (the central cardiac muscle which maintains the circulation of the blood) or the degree to which it is drawn to the earth by gravity. heart weight A calculated measurement of the difference between the systolic pressure and the diastolic pressure in the heart left ventricle at a given point in time in an isolated organ or vessel under conditions where perfusion pressure or flow can be controlled. left ventricular developed pressure 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 mshimoyama 2010-12-13T10:32:58Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of one or more of the various, specific types of leukocytes present in a sample of blood for which a total white blood cell count was taken, usually 1 cubic mm of peripheral venous blood. calculated blood differential WBC count calculated blood differential leukocyte count calculated differential white blood cell count The amount of hemoglobin in a specific volume of blood, expressed as grams per deciliter of whole blood in humans. blood haemoglobin level blood hemoglobin level The number of white blood cells in a specified volume of blood. leukocyte count white corpuscle count white blood cell count 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 A measurement of the blood, it's contents, cells or other factors contained within the blood. blood measurement 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 The level of urea in the blood in terms of nitrogen content; converted to urea concentration by multiplying by 60/28 or 2.14. Urea is the chief nitrogenous end product of protein metabolism in whole blood. Urea is formed in the liver from amino acids and from ammonia compounds and can be found in urine, blood, and lymph. BUN level blood urea nitrogen level Any value resulting from the quantification of a morphological or physiological parameter of a blood-derived lipid, any of a structurally diverse group of organic compounds found in blood that are insoluble in water but soluble innonpolar solvents that, among other biological functions, serve as a source of fuel and are an important constituent of cell structure. blood lipid measurement Measurement of the entire amount of cholesterol, a eukaryotic sterol that in higher animals is the precursor of bile acids and steroid hormones and a key constituent of cell membranes, without taking into account any association with other molecules such as lipoproteins, 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. blood TC level blood total cholesterol level Measurement of the amount of cholesterol, a eukaryotic sterol that in higher animals is the precursor of bile acids and steroid hormones and a key constituent of cell membranes, carried in high-density lipoprotein (HDL) molecules 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. HDL is the smallest of the major lipoprotein particles, complex molecules that consist of a protein membrane surrounding a core of lipids. The HDL class of lipoproteins, specifically the subtypes of HDL2 and HDL3, have densities between 1.063 and 1.210 g/ml. blood HDL level blood HDL-C Values for density ranges of the lipoprotein classes are approximate. The classes may be defined differently by different researchers, in part because class definitions depend on the number of subclasses into which the lipoprotein fractions are divided. blood high density lipoprotein cholesterol level Measurement of the amount of cholesterol, a eukaryotic sterol that in higher animals is the precursor of bile acids and steroid hormones and a key constituent of cell membranes, carried in low-density lipoprotein (LDL) molecules 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. LDL constitute a class of relatively large, heterogeneous lipoprotein particles, complex molecules that consist of a protein membrane surrounding a core of lipids. The LDL class of lipoproteins has a density between 1.019 and 1.063 g/ml. In some animal species, such as canine and rodents, this may overlap with the HDL1 class and be designated LDL/HDL1. blood LDL level blood LDL-C level Values for density ranges of the lipoprotein classes are approximate. The classes may be defined differently by different researchers, in part because class definitions depend on the number of subclasses into which the lipoprotein fractions are divided. blood low density lipoprotein cholesterol level Measurement of the total amount of all proteins, the complex organic compounds containing carbon, hydrogen, oxygen, nitrogen, and sulfur consisting of alpha-amino acids joined by peptide linkages, found in a specific volume of plasma, the fibrinogen-containing fluid portion of the blood in which the particulate components are suspended. plasma total protein level 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 of the physical form and structure of an organ. This is the term which used to be just "organ measurement". Since it was under body morphological measurement, it clearly referred to a morphological measurement. Because a term for organ measurement was needed that was not morphological, and since this one already had annotations, I changed the term while keeping the ID and location in the ontology the same. JRS 2-15-2012. organ morphological measurement The weight of the heart after removal from the body but without desiccation. heart wet weight The weight of the heart after desiccation. heart dry weight The weight of the lower left chamber of the heart, which pumps oxygenated blood through the aorta into the systemic arteries, after removal from the body and separation from the rest of the heart but without desiccation. heart left ventricle wet weight The weight of the lower right chamber of the heart, which pumps venous blood through the pulmonary trunk and arteries to the capillaries of the lung, after removal from the body and separation from the rest of the heart but without desiccation. heart right ventricle wet weight calculated heart weight A calculated value in which the weight of the heart, the chambered, muscular organ in vertebrates that pumps blood received from the veins into the arteries, thereby maintaining the flow of blood through the entire circulatory system, is divided by the total weight of the body, and the result presented as a ratio, fraction, quotient or percentage, thus normalizing it to body weight and, by extension, to the size of the organism. heart weight to body weight ratio A calculated value in which the weight of the heart, the chambered, muscular organ in vertebrates that pumps blood received from the veins into the arteries, thereby maintaining the flow of blood through the entire circulatory system, is presented as percentage of the total weight of the body, thus normalizing it to body weight. heart weight as percentage of body weight The weight of the aorta, the main trunk from which the arterial system proceeds. Weight is the heaviness or degree to which a body is drawn to the earth by gravity. aorta weight Any quantification of a morphological or physiological parameter of one or more blood vessels, the network of muscular tubes that carry blood through the body. blood vessel measurement renal/urinary measurement The weight of one or both kidneys, the organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. kidney weight The weight of the right kidney, the organ which lies on the right side of the body from the perspective of the subject and functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes, after removal from the body but without desiccation. right kidney wet weight The weight of the left kidney, the organ which lies on the left side of the body from the perspective of the subject and functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes, after removal from the body but without desiccation. left kidney wet weight The weight of a single kidney, the organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes, after removal from the body but without desiccation. individual kidney wet weight single kidney wet weight The weight of both kidneys, the organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes, after removal from the body but without desiccation. both kidneys wet weight Measurement of the physical form or structure of one or both kidneys, the organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. kidney morphological measurement mshimoyama 2009-12-17T08:17:35Z A calculated value which compares the weight of the right ventricle, the lower chamber of the right side of the heart, which pumps venous blood through the pulmonary trunk and arteries to the capillaries of the lung, with the weight of the left ventricle, the lower chamber of the left side of the heart, which pumps oxygenated blood out through the aorta to all the tissues of the body, and presents it as a ratio. heart right ventricle weight to left ventricle weight ratio mshimoyama 2009-12-17T08:22:51Z The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter. blood granulocyte count mshimoyama 2009-12-17T10:21:58Z The amount of lipoproteins, any of a group of conjugated proteins that have at least one lipid component, in a specific volume of blood. blood lipoprotein level mshimoyama 2009-12-17T11:00:47Z Measurement of the amount of creatinine in a specified sample of urine, the fluid waste product excreted by the kidneys. Creatinine is a nitrogenous compound formed in muscle as the end product of creatine metabolism. Blood and urine tests for creatinine are used as diagnostic indicators of kidney function and muscle mass. urine creatinine level mshimoyama 2010-06-24T01:24:08Z Any measurement of the physical form or structure of the skeletal, smooth and/or heart muscles of the body. muscle morphological measurement mshimoyama 2009-12-17T11:01:46Z The amount of albumin in a specified volume of urine. Urine albumin levels which are above normal but not detectable with routine protein testing are referred to as microalbuminuria. urine microalbumin level urine albumin level RNigam 2010-05-17T01:48:45Z A calculated measurement in which the weight after removal from the body but without desiccation of both kidneys, the paired organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes, is divided by the total weight of the body and presented as a percentage, thus normalizing it to body weight. both kidneys wet weight as percentage of body weight RNigam 2010-05-25T04:01:05Z Any measurement that has been normalized, adjusted or derived by a mathematical process or computation, of the weight of one or both kidneys, the paired organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. Not4Curation calculated kidney weight RNigam 2010-05-25T04:11:18Z The weight of one or both kidneys, the organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes, after removal from the body but without desiccation. kidney wet weight RNigam 2010-05-25T04:11:36Z The weight after desiccation of one or both kidneys, the organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. kidney dry weight mshimoyama 2010-06-10T09:05:26Z The length of a line which crosses a transverse view of a blood vessel, passing through its center and ending on either side at either the inner surface or outer surface of the blood vessel wall. blood vessel diameter mshimoyama 2010-06-10T09:06:25Z Percentage of blood pumped out of the left ventricle with each heart beat. heart left ventricle ejection fraction ejection fraction mshimoyama 2010-06-10T09:08:28Z Volume of blood left in a ventricle at end of contraction. end-systolic volume mshimoyama 2010-06-10T09:38:29Z Any measurement of the movement of blood through the heart and blood vessels. blood flow measurement circulation measurement mshimoyama 2010-06-10T09:38:42Z The volume of blood flowing through a vessel or organ per unit of time. blood flow rate mshimoyama 2010-06-10T09:51:29Z The volume of blood pumped from the right or left ventricle per minute, also used to calculate - stroke volume X heart rate. cardiac output measurement mshimoyama 2010-06-10T09:56:23Z The volume of blood flowing through an artery per unit time. arterial blood flow rate mshimoyama 2010-06-10T09:56:38Z The volume of blood passing through a vein per unit time. venous blood flow rate mshimoyama 2010-06-10T10:04:04Z Movement of blood along the solid wall of a vessel, often represented by the Hagen-Poiseuille equation. vessel shear stress measurement mshimoyama 2010-06-10T10:51:43Z in vitro vessel shear stress mshimoyama 2010-06-10T10:52:06Z in vivo vessel shear stress mshimoyama 2010-06-10T11:20:31Z The time needed for plasma to form a fibrin clot after the addition of calcium and a phospholipid reagent. It is used to evaluate the intrinsic clotting system. activated partial thromboplastin time mshimoyama 2010-06-10T02:02:16Z vasodilation measurement blood vessel dilation measurement mshimoyama 2010-06-10T02:02:34Z lumen diameter at maximum dilation expressed as percent of baseline mshimoyama 2010-06-10T02:34:30Z vasoconstriction measurement blood vessel constriction measurement mshimoyama 2010-06-10T02:35:20Z lumen diameter at maximum constriction expressed as percent of baseline mshimoyama 2010-06-10T02:41:52Z Resistance to blood flow by blood vessels throughout the body, the degree to which the blood vessels impede the flow of blood, often calculated as SVR equal to the difference between mean arterial blood pressure(MAP) and central venous pressure(CVP) divided by cardiac output(CO). systemic vascular resistance (SVR) mshimoyama 2010-06-10T03:56:38Z Volume of blood in ventricle immediately before a contraction. end-diastolic volume mshimoyama 2010-06-11T01:32:10Z Volume of blood pumped from one ventricle of the heart with each beat, calculated by subtracting the volume of blood in the ventricle at the end of a beat (end-systolic volume) from the volume of blood just prior to the beat (end-diastolic volume). stroke volume 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 2010-06-17T10:30:50Z Number of cells of muscular tissue in the heart in a specified sample size. cardiomyocyte count mshimoyama 2010-06-17T10:33:11Z The enumeration, i.e. measurement of the total number, of the specialized liner cells that form an interface between the circulating blood and the rest of the vessel wall in a specified sample of blood vessel, any one of the network of muscular tubes that carry blood through the body. blood vessel endothelial cell number vascular endothelial cell count blood vessel endothelial cell count mshimoyama 2010-06-17T10:36:15Z Any measurement of components of the Electrical conduction system of the heart.The electrical conduction system of the heart transmits signals generated usually by the sinoatrial node to cause contraction of the heart muscle. heart electrical conduction measurement mshimoyama 2010-06-17T10:39:30Z Interval between an R wave and the next R wave of successive heart beats, inverse of the heart rate. RR_Interval RR interval mshimoyama 2010-06-17T10:40:52Z Time between the beginning of the P wave to the beginning of the QRS complex, reflects the time the electrical impulse takes to travel from the sinus node through the AVE node and entering the ventricles, used as an estimate of AV node function. PR_Interval PR interval mshimoyama 2010-06-17T10:43:21Z The time between the J point ( the point at which the QRS complex finishes and the ST segment begins) to the end of the T wave. ST_Interval ST interval mshimoyama 2010-06-17T10:45:44Z An interval measured from the onset of the QRS wave complex to the offset of the T wave. QT_Interval QT interval mshimoyama 2010-06-17T10:53:08Z heart wall thickness mshimoyama 2010-06-17T10:54:17Z The depth of the wall of the aorta, the main trunk from which the arterial system proceeds. aortic wall thickness aorta wall thickness mshimoyama 2010-06-17T11:13:15Z The thickness or depth of the dorsal/posterior wall of the heart. The dorsal wall is the portion of the heart muscle which is closest to the spine and farthest from the chest wall of the organism. heart dorsal wall thickness heart posterior wall thickness mshimoyama 2010-06-17T11:15:28Z The thickness or depth (i.e. the measurement of the two-dimensional extent of the distance between the inner and outer surfaces) of the dorsal/posterior wall of the left ventricle of the heart. The dorsal wall is the portion of the muscle enclosing the ventricle which is closest to the spine and farthest from the chest wall of the organism. The left ventricle is the lower chamber of the left side of the heart, which pumps oxygenated blood out through the aorta to all the tissues of the body. heart left ventricle dorsal wall thickness Note that "left" in this context refers to the perspective of the organism, not that of the observer. heart left ventricle posterior wall thickness mshimoyama 2010-06-17T11:15:42Z The thickness or depth of the dorsal/posterior wall of the right ventricle of the heart. The dorsal wall is the portion of the muscle enclosing the ventricle which is closest to the spine and farthest from the chest wall of the organism. heart right ventricle dorsal wall thickness heart right ventricle posterior wall thickness mshimoyama 2010-06-17T12:26:05Z Any measurement of urine, the fluid waste product excreted by the kidneys, or its components. urine measurement mshimoyama 2010-06-17T12:27:01Z Measure of the concentration of particles in the urine. urine density urine specific gravity mshimoyama 2010-06-17T12:38:44Z The magnitude of the P wave, the initial deflection of the cardiac cycle representing excitation of the atria as presented in an electrocardiogram. P wave amplitude mshimoyama 2010-06-17T12:39:11Z The time from start to finish of the P wave , in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria. P wave duration mshimoyama 2010-06-17T12:39:35Z The distance to the lowest part of the Q wave which shows the initial downward deflection related to the initial phase of depolarization of the ventricular myocardium and the depolarization of the interventricular septum as measured by electrocardiograph. Q wave depth mshimoyama 2010-06-17T12:39:55Z The time from start to finish of the Q wave which illustrates the initial downward deflection related to the initial phase of depolarization of the ventricular myocardium and the depolarization of the interventricular septum as measured by an electrocardiograph. Q wave duration mshimoyama 2010-06-17T12:40:13Z The time from start to finish of the QRS interval as calculated from a set of measurements taken from the beginning of the QRS complex to the end of the QRS complex representing the time it takes for ventricles to depolarize. QRS duration mshimoyama 2010-06-17T12:40:30Z The magnitude of the portion of the electrocardiograph comprising the Q, R, and S waves which together represent ventricular depolarization. QRS amplitude mshimoyama 2010-06-17T12:40:52Z QT interval corrected for heart rate calculated by the QT interval divided by the square root of the interval from one QRS complex to the onset of the next QRS complex measured in seconds. QTC interval mshimoyama 2010-06-17T12:41:09Z The magnitude of the R wave, which is the initial upward deflection of the QRS complex following the Q wave representing early depolarization of the ventricles as illustrated by an electrocardiograph. R wave amplitude mshimoyama 2010-06-17T12:41:26Z The time from start to finish of the R wave, the initial upward deflection of the QRS complex following the Q wave which represents early depolarization of the ventricles as illustrated in and electrocardiograph. R wave duration mshimoyama 2010-06-17T12:41:54Z The magnitude of the S wave, the downward deflection of the QRS complex following the R wave representing late depolarization of the ventricles as illustrated in an electrocardiograph. S wave amplitude mshimoyama 2010-06-17T12:42:07Z The time from start to finish of the S wave which is the downward deflection of the QRS complex following the R wave representing late depolarization as illustrated by an electrocardiograph. S wave duration mshimoyama 2010-06-17T12:42:27Z ST amplitude mshimoyama 2010-06-17T12:42:46Z ST slope mshimoyama 2010-06-17T12:43:04Z ST wave displacement mshimoyama 2010-06-17T12:43:21Z The magnitude of the T wave, the deflection following the QRS complex representing repolarization of the ventricles as illustrated by and electrocardiograph. T wave amplitude mshimoyama 2010-06-17T03:09:47Z An interval measured from the onset of the P wave in one PQRST wave complex to the onset of the P wave in the following PQRST wave complex. PP_Interval PP interval mshimoyama 2010-06-25T01:54:10Z The difference between systolic and diastolic blood pressures, i.e. the difference between the maximal arterial pressure and minimal arterial pressure during the cardiac cycle. pulse pressure 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 mshimoyama 2010-09-01T08:30:15Z Measurement of the physical form or structure of either the right or the left upper chamber of the heart that receives blood from the veins and forces it into a ventricle. heart atrium morphological measurement mshimoyama 2010-09-01T08:30:28Z The weight of the left atrium of the heart, the upper chamber on the left which empties into the lower chamber. Weight is the heaviness or degree to which a body is drawn toward the earth by gravity. left atrium weight mshimoyama 2010-09-01T08:30:45Z The weight of the right atrium, the upper right chamber of the heart which empties into the lower right chamber, i.e. the right ventricle. Weight is the heaviness or degree to which a body is drawn to the earth by gravity. right atrium weight mshimoyama 2010-09-01T08:30:56Z A measure of the capacity of the left heart atrium, the upper left chamber which empties into the lower heart chamber. left atrium volume mshimoyama 2010-09-01T08:31:06Z A measure of the three dimensional capacity of the right atrium of the heart, the upper right chamber which empties into the lower right chamber, i.e. the right ventricle. right atrium volume mshimoyama 2010-09-01T08:31:46Z Any measurement of the physical form or structure of one or both ventricles of the heart, that is, the lower chambers of the heart that pump blood away from the heart either to the lungs to be oxygenated or, once oxygenated, to the rest of the body. heart ventricle morphological measurement mshimoyama 2011-09-21T01:41:55Z A calculated measurement in which the weight after removal from the body but without desiccation of both kidneys, the paired organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes, is divided by the total weight of the body and presented as a ratio, fraction or quotient, thus normalizing it to body weight. both kidneys wet weight to body weight ratio mshimoyama 2010-11-12T09:44:31Z The amount of triglycerides in a specified volume of serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. Triglycerides are any of a group of lipids that are esters formed from one molecule of glycerol and three molecules of one or more fatty acids, are widespread in adipose tissue, and commonly circulate in the blood in the form of lipoproteins. serum triglyceride level mshimoyama 2010-11-12T09:46:59Z Measurement of the entire amount of cholesterol, a eukaryotic sterol that in higher animals is the precursor of bile acids and steroid hormones and a key constituent of cell membranes, without taking into account any association with other molecules such as lipoproteins, in a specified volume of serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. serum TC level serum total cholesterol level mshimoyama 2010-12-13T10:24:28Z The number of each type of leukocyte present in a specific volume of blood, usually 1 cubic millimeter. blood differential leukocyte count blood differential WBC count blood differential white blood cell count mshimoyama 2010-12-13T10:35:10Z A calculated measurement in which the number of all granulocytes (regardless of type) in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. granulocyte count as percentage of total white blood cells granulocyte count to total WBC count ratio granulocyte count to total white blood cell count ratio granulocyte percentage blood granulocyte count to total leukocyte count ratio mshimoyama 2010-12-13T10:38:12Z A calculated measurement in which the number of eosinophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. An eosinophil is a granular leukocyte having a nucleus with two lobes connected by a thread of chromatin, and cytoplasm containing coarse, round granules of uniform size that stain readily with eosin and other acid dyes. eosinophil count as percentage of total white blood cells eosinophil count to total WBC count ratio eosinophil granulocyte percentage eosinophil percentage blood eosinophil count to total leukocyte count ratio mshimoyama 2010-12-13T10:39:37Z A calculated measurement in which the number of neutrophil granulocytes is divided by the number of all white blood cells in a specified sample of peripheral venous blood, and the result presented as a ratio, fraction, quotient or percentage. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes. neutrophil granulocyte percentage neutrophil count as percentage of total white blood cells neutrophil count to total WBC count ratio neutrophil percentage polymorphonuclear cell percentage blood neutrophil count to total leukocyte count ratio mshimoyama 2010-12-13T10:45:39Z A calculated measurement in which the number of lymphocytes in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. lymphocyte count as percentage of total white blood cells lymphocyte count to total WBC count ratio lymphocyte percentage blood lymphocyte count to total leukocyte count ratio mshimoyama 2010-12-13T11:30:05Z The complete or entire amount of bilirubin in a specified volume of serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. Bilirubin is the bile pigment produced by breakdown of heme and reduction of biliverdin. total serum bilirubin level mshimoyama 2011-01-04T12:01:33Z The amount of carbonic acid dissolved in carbon dioxide and carbonate ion found in a specified volume of serum. serum bicarbonate level mshimoyama 2011-01-04T12:06:48Z The amount of chloride ions found in a specified volume of serum. serum chloride level mshimoyama 2011-01-04T02:41:58Z An estimation of the volume of blood filtered from the kidney glomerular capillaries into the Bowman's capsule per specified unit of time based on serum creatinine level, wieght and age of organism and other factors. blood glomerular filtration rate mshimoyama 2011-01-04T02:48:14Z blood glomerular filtration rate, Diet in Renal Disease Formula (MDRD) mshimoyama 2011-01-04T02:48:55Z A calculated measurement which estimates the glomerular filtration rate (GFR), that is, the volume of fluid filtered from the renal capillaries per unit time, based on the serum creatinine level and adjusted for gender. blood glomerular filtration rate, Chronic Kidney Disease Epidemiology Collaboration formula (CKE-EPI) mshimoyama 2011-01-04T02:50:15Z blood glomerular filtration rate, May Quadratic formula mshimoyama 2011-01-04T02:50:43Z blood glomerular filtration rate, Schwartz formula mshimoyama 2011-01-04T02:52:02Z Amount of potassium ions in a specified volume of serum. serum potassium level mshimoyama 2011-01-04T02:56:30Z The amount of sodium ions in a specified volume of serum. serum sodium level mshimoyama 2011-01-04T03:15:06Z The amount of calcium ions in a specified volume of serum. serum calcium level mshimoyama 2011-01-21T08:57:36Z Blood pressure measured in the pulmonary artery during diastole, that is, during dilation or relaxation of the heart ventricles. pulmonary arterial diastolic blood pressure mshimoyama 2011-01-21T08:58:00Z Blood pressure measured in the pulmonary artery during systole, that is, during contraction of the heart ventricles. pulmonary arterial systolic blood pressure mshimoyama 2011-01-21T09:42:17Z A calculated value in which the weight of the left ventricle, the lower chamber of the left side of the heart, which pumps oxygenated blood out through the aorta to all the tissues of the body, is divided by the total weight of the body and the result presented as a ratio, fraction, quotient or percentage, thus normalizing it to body weight and by extension to the size of the organism. heart left ventricle weight as a percentage of body weight LV mass/BW heart left ventricle weight to body weight ratio mshimoyama 2011-10-28T04:24:16Z The difference in mean arterial blood pressure between two points in time or two conditions expressed as the result of the subtraction in and of itself without comparison by ratio with another quantity. The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. absolute change in mean arterial blood pressure mshimoyama 2011-10-28T04:25:37Z Absolute difference in heart rate between two points in time or two conditions. The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. absolute change in heart rate mshimoyama 2011-10-28T04:29:17Z The number of glomeruli in all or part of a kidney. Glomeruli are the tufts of capillaries each situated within a Bowman's capsule at the end of a renal tubule in the vertebrate kidney that filter waste products from the blood and thus initiate urine formation. glomeruli count glomerulus count mshimoyama 2011-10-28T04:33:14Z heart left ventricle dry weight mshimoyama 2011-11-02T02:44:01Z The amount of phosphorus, measured as inorganic phosphate, in a specified sample of serum. serum inorganic phosphate level serum inorganic phosphorus level serum phosphorus level serum phosphate level mshimoyama 2011-11-02T02:45:05Z 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 serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. serum glucose level mshimoyama 2011-11-02T02:48:13Z The amount of albumin in a specified sample of serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. serum albumin level mshimoyama 2011-11-02T04:10:11Z The amount of ezymatic activity of glutamic-pyruvate transaminase enzyme, commonly known as alanine transaminase or alanine aminotransferase (ALT), enzyme in a specified sample of serum. ALT catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Serum ALT level is used as an enzymatic marker for liver disease or damage. serum alanine transaminase activity level serum glutamic-pyruvate transaminase activity level serum ALT activity level serum GPT activity level serum alanine aminotransferase activity level mshimoyama 2011-11-02T04:11:05Z Quantitation of the catalytic effect exerted by alkaline phosphatase (AP) in a specified sample of serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. AP is an enzyme that catalyzes the cleavage of orthophosphate from orthophosphoric monoesters under alkaline conditions. serum alkaline phosphatase activity level mshimoyama 2011-11-02T04:18:08Z The amount of enzymatic activity of glutamic-oxaloacetic transaminase enzyme, commonly known as aspartate transaminase or aspartate aminotransferase (AST), in a specified sample of serum. AST catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid. Serum AST level is used as an enzymatic marker for liver disease or damage. serum aspartate transaminase activity level serum glutamic-oxaloacetic transaminase activity level SGOT activity level serum AST activity level serum GOT activity level serum aspartate aminotransferase activity level mshimoyama 2011-11-03T01:45:21Z urine protein level mshimoyama 2011-11-03T02:34:53Z Measurement of the pressure within the heart left ventricle at the end of systole, the period of contraction of the heart when the blood is forced from the ventricles into the pulmonary artery (right ventricle) and the aorta (left ventricle). left ventricular end-systolic blood pressure mshimoyama 2011-11-03T02:35:59Z The pressure in the heart left ventricle at the end of diastole, the period when the heart is in a state of relaxation and expansion and the ventricles fill with blood. left ventricular end-diastolic blood pressure mshimoyama 2011-11-03T02:36:40Z Calculated measurement of a difference in the maximum arterial blood pressure, that is the pressure at the point of maximal contraction of the heart, between two points in time or two conditions expressed as a number (positive or negative), not as a ratio or percentage relative to another quantity. The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. absolute change in systolic blood pressure mshimoyama 2011-11-03T02:36:56Z Calculated measurement of a difference in diastolic blood pressure between two points or two conditions expressed as a number (positive or negative), not as a ratio or percentage relative to another quantity. The diastolic pressure is the minimum arterial pressure within the cardiac cycle, usually at the point at which the heart is in a state of relaxation and expansion. This is the time when the ventricles fill with blood. The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. absolute change in diastolic blood pressure mshimoyama 2011-11-03T02:50:38Z A calculated measurement in which the weight after removal from the body but without desiccation of a single kidney, one of the paired organs which function to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes, is divided by the total weight of the body and presented as a ratio, fraction or quotient, thus normalizing it to body weight. individual kidney wet weight to body weight ratio single kidney wet weight to body weight ratio mshimoyama 2011-11-03T02:50:52Z A calculated measurement in which the weight after removal from the body but without desiccation of a single kidney, one of the paired organs which function to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes, is divided by the total weight of the body and presented as a percentage, thus normalizing it to body weight. individual kidney wet weight as percentage of body weight single kidney wet weight as percentage of body weight mshimoyama 2011-11-04T12:57:25Z heart right ventricle dry weight JSmith 2012-02-15T11:39:00Z Any measurement of components of the periodic tightening and loosening of the heart muscle. heart contractility measurement heart contraction measurement JSmith 2012-02-15T11:42:05Z Measure of the time from the relaxation of the heart muscle to the beginning of the tightening of the heart muscle during contraction. time to onset of heart contraction JSmith 2012-02-15T11:48:18Z Measurement of the time from the beginning of heart muscle contraction to the maximum contracted state. time to peak heart contraction JSmith 2012-02-15T11:56:51Z Pressure exerted by the heart muscle in its maximally contracted state. heart contraction pressure JSmith 2012-02-15T05:00:53Z Any measurement of a structural part of a system of the body that is composed of tissues and cells that enable it to perform a particular function. organ measurement 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 2012-02-15T05:11:39Z A measurement made on a fluid flowing out of the heart. heart effluent measurement JSmith 2012-02-15T05:14:44Z The volume of a fluid flowing out of the heart. heart effluent volume JSmith 2012-02-15T05:16:22Z The volume of a fluid flowing out of the heart during a specified amount of time. timed heart effluent volume JSmith 2012-02-15T05:21:20Z The amount of an enzyme in a specified volume of fluid flowing out of the heart. heart effluent enzyme level JSmith 2012-02-15T05:25:02Z The amount of lactate dehydrogenase activity measured in a specified volume of fluid flowing out of the heart. heart effluent LDH activity level heart effluent lactate dehydrogenase activity level JSmith 2012-02-15T05:45:18Z Measurement of a lesion in an organ. A lesion is a localized pathological change in structure of an organ or tissue due to injury or disease; especially one that is circumscribed and well defined. tissue damage measurement organ lesion measurement JSmith 2012-02-15T05:48:03Z A measurement of any lesion of the heart. A lesion is a localized pathological change in structure of an organ or tissue due to injury or disease; especially one that is circumscribed and well defined. heart lesion measurement JSmith 2012-02-15T05:50:09Z Measurement of an area of necrotic tissue resulting from a reduction or obstruction of the oxygen supplied to that tissue. infarction measurement JSmith 2012-02-15T05:58:36Z Measurement of an area of necrotic tissue in the heart resulting from a reduction or obstruction of the oxygen supply. myocardial infarction measurement heart infarction measurement JSmith 2012-02-15T06:09:00Z Measurement of an area of necrotic tissue in the left ventricle of the heart resulting from a reduction or obstruction of the oxygen supply to the heart. heart left ventricle infarction measurement JSmith 2012-02-15T06:11:07Z Measurement of the area, volume or weight of necrotic tissue resulting from a reduction or obstruction of the oxygen supplied to that tissue. infarction size JSmith 2012-02-15T06:14:35Z Measurement of the area, volume or weight of necrotic tissue in the heart resulting from a reduction or obstruction of the oxygen supply to the heart. heart infarction size JSmith 2012-02-15T06:18:51Z Measurement of the area, volume or weight of necrotic tissue in the heart left ventricle resulting from a reduction or obstruction of the oxygen supply to the heart. heart left ventricle infarction size JSmith 2012-02-15T06:27:35Z calculated heart left ventricle infarction size JSmith 2012-02-15T06:28:08Z heart left ventricle infarction size as percentage of total heart left ventricle size JSmith 2012-02-15T06:46:40Z The heaviness of one or both ventricles of the heart, that is, the lower chambers of the heart that pump blood away from the heart either to the lungs to be oxygenated or, once oxygenated, to the rest of the body, or the degree to which one or both ventricles of the heart are drawn toward the earth by gravity. heart ventricle weight JSmith 2012-02-21T02:50:48Z heart infarction weight JSmith 2012-02-21T03:02:09Z heart infarction area JSmith 2012-02-21T03:02:46Z heart left ventricle infarction weight JSmith 2012-02-21T03:03:35Z heart left ventricle infarction area JSmith 2012-02-21T03:04:15Z calculated heart left ventricle infarction area JSmith 2012-02-21T03:04:51Z calculated heart left ventricle infarction weight JSmith 2012-02-21T03:05:44Z heart left ventricle infarction weight as percentage of total heart left ventricle weight JSmith 2012-02-21T03:08:57Z calculated heart infarction weight JSmith 2012-03-09T04:05:52Z The difference in body temperature between two different points in time or between two different conditions. The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. absolute change in body temperature JSmith 2012-03-09T05:24:30Z Measurement of the amount of resistance in a blood vessel to the flow of blood or other fluid through it. blood vessel resistance measurement JSmith 2012-03-09T05:53:03Z Resistance to blood flow by blood vessels in the lung. pulmonary vascular resistance (PVR) JSmith 2012-03-09T05:57:02Z Measurement of vascular resistance in lung blood vessels calculated from other indirect measurements. calculated PVR calculated pulmonary vascular resistance JSmith 2012-03-09T06:00:03Z R_Flow100 calculated pulmonary vascular resistance normalized to body weight JSmith 2012-03-13T12:26:02Z Measurement made on the endothelial tissue or endothelial cells lining a blood vessel. blood vessel endothelium measurement JSmith 2012-03-13T12:29:04Z calculated blood vessel endothelium measurement JSmith 2012-03-13T12:31:07Z FAPGG metabolism-surface area product JSmith 2012-03-13T01:02:07Z methylene blue metabolism-surface area product without auto-oxidation JSmith 2012-03-13T01:03:47Z methylene blue metabolism-surface area product after auto-oxidation JSmith 2012-03-13T01:12:29Z Ratio of the methylene blue metabolism-surface area product without auto-oxidation to the FAPGG metabolism-surface area product. methylene blue to FAPGG metabolism-surface area product ratio JSmith 2012-03-13T04:15:39Z Any measurement of the energy produced by the active reduction in the diameter of a blood vessel, any one of the network of muscular tubes that carry blood through the body, resulting from contraction of the muscular wall of the vessel. blood vessel contractility measurement blood vessel contractile force measurement JSmith 2012-03-13T04:46:14Z Measurement of the highest achievable amount of energy produced by the active reduction in the diameter of a blood vessel, any one of the network of muscular tubes that carry blood through the body, resulting from contraction of the muscular wall of the vessel. blood vessel maximum contractility measurement blood vessel maximum contractile force JSmith 2012-03-13T04:47:52Z maximum contractile force per wet weight of vessel JSmith 2012-03-14T04:09:34Z Measurement of an organism's, organ's, tissue's or cell's capacity to respond, such as by a change in activity, state or condition, to a drug or other chemical stimulus. chemical response/sensitivity measurement JSmith 2012-03-14T04:16:11Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the energy produced by the active reduction in the diameter of a blood vessel, any one of the network of muscular tubes that carry blood through the body, resulting from contraction of the muscular wall of the vessel. calculated blood vessel contractile force measurement JSmith 2012-03-14T04:17:28Z A calculated value for the concentration of phenylephrine (PE), the phenylethanolamine with IUPAC name (R)-3-[-1-hydroxy-2-(methylamino)ethyl]phenol and formula C9H13NO2 that acts as a selective alpha1-adrenergic receptor agonist, decongestant and vasoconstrictor, at which the energy produced by the active reduction in the diameter of a blood vessel in response to the application of PE is halfway between the baseline value and the highest achievable value of such PE-induced contractile energy. phenylephrine half maximal effective concentration (EC50) concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (EC50) JSmith 2012-03-14T04:17:54Z A calculated value for logarithm of the concentration of phenylephrine (PE), the phenylethanolamine with IUPAC name (R)-3-[-1-hydroxy-2-(methylamino)ethyl]phenol and formula C9H13NO2 that acts as a selective alpha1-adrenergic receptor agonist, decongestant and vasoconstrictor, at which the energy produced by the active reduction in the diameter of a blood vessel in response to the application of PE is halfway between the baseline value and the highest achievable value of such PE-induced contractile energy. The logarithm of the concentration is the exponent indicating the power to which 10 must be raised to obtain that concentration value. phenylephrine Log half maximal effective concentration (Log EC50) logarithm of the concentration of phenylephrine at which the force of blood vessel contraction is half the maximum value (Log EC50) JSmith 2012-03-14T04:21:12Z Measurement of the reduction in force during dilation of a blood vessel via calculations from direct measurements rather than expressing the direct measurements themselves. calculated blood vessel dilation force reduction measurement JSmith 2012-03-14T04:23:57Z A calculated value for the concentration of acetylcholine (ACh), the ester of acetic acid and choline with chemical formula CH3C=OO(CH2)2-N(+)-(CH3)3 and IUPAC name 2-acetoxy-N,N,N-trimethylethanaminium, which acts as a neurotransmitter, at which the energy exerted during the active expansion in the diameter of a blood vessel in response to the application of ACh is halfway between the highest value, that is the force at greatest constriction (often measured in a pre-constricted blood vessel), and the lowest achievable value of such contractile energy during ACh-induced relaxation of the vessel wall (i.e. the maximum effect of Ach which is the minimum contractile energy). acetylcholine half maximal effective concentration (EC50) concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) JSmith 2012-03-14T04:24:16Z A calculated value for logarithm of the concentration of acetylcholine (ACh), the ester of acetic acid and choline with chemical formula CH3C=OO(CH2)2-N(+)-(CH3)3 and IUPAC name 2-acetoxy-N,N,N-trimethylethanaminium, which acts as a neurotransmitter, at which the energy exerted during the active expansion in the diameter of a blood vessel in response to the application of ACh is halfway between the highest value, that is the force at greatest constriction (often measured in a pre-constricted blood vessel), and the lowest achievable value of such contractile energy during ACh-induced relaxation of the vessel wall (i.e. the maximum effect of Ach which is the minimum contractile energy). The logarithm of the concentration is the exponent indicating the power to which 10 must be raised to obtain that concentration value. acetylcholine Log half maximal effective concentration (Log EC50) logarithm of the concentration of acetylcholine at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) JSmith 2012-03-14T04:24:44Z A calculated value for the concentration of sodium nitroprusside (SNP), the red-colored inorganic salt with the formula Na2[Fe(CN)5NO]-2H2O used as a potent vasodilator, at which the energy exerted during the active expansion in the diameter of a blood vessel in response to the application of SNP is halfway between the highest value, that is the force at greatest constriction (often measured in a pre-constricted blood vessel), and the lowest achievable value of such contractile energy during SNP-induced relaxation of the vessel wall (i.e. the maximum effect of SNP which is the minimum contractile energy). sodium nitroprusside half maximal effective concentration (EC50) concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (EC50) JSmith 2012-03-14T04:25:16Z A calculated value for logarithm of the concentration of sodium nitroprusside (SNP), the red-coloured inorganic salt with the formula Na2[Fe(CN)5NO]-2H2O used as a potent vasodilator, at which the energy exerted during the active expansion in the diameter of a blood vessel in response to the application of SNP is halfway between the highest value, that is the force at greatest constriction (often measured in a pre-constricted blood vessel), and the lowest achievable value of such contractile energy during SNP-induced relaxation of the vessel wall (i.e. the maximum effect of SNP which is the minimum contractile energy). sodium nitroprusside Log half maximal effective concentration (Log EC50) logarithm of the concentration of sodium nitroprusside at which the reduction in force during dilation of a blood vessel is half the maximum value (Log EC50) JSmith 2012-03-15T11:42:31Z maximum contractile force per wet weight of aorta JSmith 2012-03-15T11:48:29Z Measurement of the reduction in force during blood vessel dilation. blood vessel dilation force reduction measurement JSmith 2012-03-15T11:53:37Z blood vessel dilation expressed as percent of force at maximum constriction JSmith 2012-03-15T11:55:20Z acetylcholine-induced blood vessel dilation expressed as percent of phenylephrine-induced vasoconstriction acetylcholine-induced blood vessel dilation expressed as percent of force at maximum constriction JSmith 2012-03-15T11:59:59Z sodium nitroprusside-induced blood vessel dilation expressed as percent of phenylephrine-induced vasoconstriction sodium nitroprusside-induced blood vessel dilation expressed as percent of force at maximum constriction JSmith 2012-03-15T12:00:51Z hypoxia-induced blood vessel dilation expressed as percent of force at maximum constriction JSmith 2012-03-15T12:03:40Z slope measurement of phenylephrine-induced contraction slope measurement of drug-induced contraction slope measurement of chemical-induced contraction JSmith 2012-03-15T12:05:49Z fast-slope measurement of phenylephrine-induced contraction fast-slope measurement of drug-induced contraction fast-slope measurement of chemical-induced contraction JSmith 2012-03-15T12:06:21Z slow-slope measurement of phenylephrine-induced contraction slow-slope measurement of drug-induced contraction slow-slope measurement of chemical-induced contraction JSmith 2012-03-15T12:11:24Z Measurement of an organism's, organ's, tissue's or cell's capacity to respond, such as by a change in activity, state or condition, to acetylcholine (ACh), the ester of acetic acid and choline with chemical formula CH3C=OO(CH2)2-N(+)-(CH3)3 and IUPAC name 2-acetoxy-N,N,N-trimethylethanaminium, which acts as a neurotransmitter. acetylcholine response/sensitivity measurement JSmith 2012-03-15T12:12:47Z Measurement of an organism's, organ's, tissue's or cell's capacity to respond, such as by a change in activity, state or condition, to phenylephrine (PE), the phenylethanolamine with IUPAC name (R)-3-[-1-hydroxy-2-(methylamino)ethyl]phenol and formula C9H13NO2 that acts as a selective alpha1-adrenergic receptor agonist, decongestant and vasoconstrictor. phenylephrine response/sensitivity measurement JSmith 2012-03-15T12:13:21Z Measurement of an organism's, organ's, tissue's or cell's capacity to respond, such as by a change in activity, state or condition, to sodium nitroprusside (SNP), the red-colored inorganic salt with the formula Na2[Fe(CN)5NO]-2H2O used as a potent vasodilator. sodium nitroprusside response/sensitivity measurement JSmith 2012-03-20T04:21:00Z percent change in heart rate JSmith 2012-03-20T04:31:30Z Calculation of a difference between representations of blood pressure in a treated versus untreated state or over time, after the original values have been normalized or adjusted by a mathematical process or computation. Blood pressure is the pressure, or force per area, exerted by circulating blood against the walls of the blood vessels. The pressure is dependent on the energy of the heart action, elasticity of the vessel walls and volume and viscosity of the blood. change in calculated blood pressure JSmith 2012-03-20T04:31:52Z A calculated measurement of the difference in developed blood pressure between a treated state and a control state. Developed pressure is systolic minus diastolic pressure when measured in an isolated organ or vessel under conditions where perfusion pressure or flow can be controlled. change in developed blood pressure JSmith 2012-03-20T04:32:19Z A calculated measurement of the difference in developed blood pressure between a treated state and a control state, expressed as a percentage. Developed pressure is systolic minus diastolic pressure when measured in an isolated organ or vessel under conditions where perfusion pressure or flow can be controlled. percent change in developed blood pressure JSmith 2012-03-20T04:34:31Z Calculated measurement of a difference in the maximum arterial blood pressure, that is the pressure at the point of maximal contraction of the heart, between two points in time or two conditions. change in systolic blood pressure JSmith 2012-03-20T04:35:00Z The relative difference in the maximum arterial blood pressure, that is the pressure at the point of maximal contraction of the heart, between two points in time or two conditions expressed as a percentage. percent change in systolic blood pressure JSmith 2012-03-20T04:37:30Z change in arterial blood flow rate JSmith 2012-03-20T04:38:02Z percent change in arterial blood flow rate JSmith 2012-03-20T04:38:35Z The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. absolute change in arterial blood flow rate JSmith 2012-03-21T01:08:08Z A calculated measurement of the difference in developed pressure measured in the heart left ventricle between a treated state and a control state, expressed as a percentage. Developed pressure is systolic minus diastolic pressure when measured in an isolated organ or vessel under conditions where perfusion pressure or flow can be controlled. percent change in left ventricular developed pressure JSmith 2012-03-21T01:09:30Z A calculated measurement of the difference in developed pressure measured in the heart left ventricle between a treated state and a control state. Developed pressure is systolic minus diastolic pressure when measured in an isolated organ or vessel under conditions where perfusion pressure or flow can be controlled. change in left ventricular developed pressure JSmith 2012-03-21T01:13:41Z Difference in the pressure within the heart left ventricle at the point of maximal contraction, when the blood is forced from the left ventricle into the aorta, between two points in time or two conditions. change in left ventricular systolic blood pressure JSmith 2012-03-21T01:14:31Z The relative difference in the pressure within the heart left ventricle at the point of maximal contraction, when the blood is forced from the left ventricle into the aorta, between two points in time or two conditions expressed as a percentage. percent change in left ventricular systolic blood pressure JSmith 2012-03-30T07:52:39Z The activity level of LDH in effluent expressed relative to the weight of the heart; calculated as LDH activity divided by heart wet weight. heart effluent lactate dehydrogenase activity level normalized to heart weight JSmith 2012-06-07T11:37:18Z heart left ventricle weight JSmith 2012-06-07T11:38:49Z heart right ventricle weight JSmith 2012-06-07T12:01:20Z The average blood pressure within the pulmonary artery over a specified period of time, or technically over a complete cycle of one heartbeat. mean pulmonary artery (PA) pressure mean pulmonary arterial blood pressure JSmith 2012-06-07T02:24:23Z Measurement of blood pressure in the pulmonary artery. pulmonary artery (PA) blood pressure measurement pulmonary artery pressure pulmonary arterial blood pressure measurement JSmith 2012-06-26T11:34:46Z Measurement of an organ lesion which is or has the potential to become a tumor, that is, a neoplasm or new growth of tissue in which cell multiplication is more or less uncontrolled and progressive. Tumorous lesions include tumors, preneoplastic lesions, and hyperplastic lesions composed of histologically normal cells. organ tumorous lesion measurement JSmith 2012-06-26T11:46:40Z Measurement of an organ lesion which is not neoplastic in origin. A lesion is a localized pathological change in structure of an organ or tissue due to injury or disease; especially one that is circumscribed and well defined. Examples of non-tumorous lesions would include wounds, sores, ulcers, infarctions, etc. organ non-tumorous lesion measurement JSmith 2012-06-26T12:53:39Z Measurement of a heart lesion which is not neoplastic in origin. A lesion is a localized pathological change in structure of an organ or tissue due to injury or disease; especially one that is circumscribed and well defined. Examples of non-tumorous lesions would include wounds, sores, ulcers, infarctions, etc. heart non-tumorous lesion measurement JSmith 2012-06-26T01:22:44Z Measurement of a lesion of the heart which is or has the potential to become a tumor, that is, a neoplasm or new growth of tissue in which cell multiplication is more or less uncontrolled and progressive. Tumorous lesions include tumors, preneoplastic lesions, and hyperplastic lesions composed of histologically normal cells. heart tumorous lesion measurement JSmith 2012-07-11T10:34:14Z Any measurement, morphological or physiological, involving the kidney or any part thereof. Not4Curation kidney measurement JSmith 2012-07-11T10:38:08Z Renal blood flow (RBF) is the volume of blood delivered to or exiting from the kidneys per unit time. renal blood flow rate JSmith 2012-07-11T10:44:48Z Arterial renal blood flow (RBFa) is the volume of blood delivered to the kidneys per unit time via the renal arteries. renal arterial blood flow rate JSmith 2012-07-11T10:48:22Z Venous renal blood flow (RBFv) is the volume of blood exiting from the kidneys per unit time via the renal veins. renal venous blood flow rate JSmith 2012-07-11T12:08:49Z A calculated value in which the weight of the right ventricle, the lower chamber of the right side of the heart, which pumps venous blood through the pulmonary trunk and arteries to the capillaries of the lung, is divided by the total weight of the body and presented as a ratio thus normalizing it to body weight. heart right ventricle weight to body weight ratio JSmith 2012-07-11T12:09:38Z A calculated value in which the weight of the right ventricle, the lower chamber of the right side of the heart, which pumps venous blood through the pulmonary trunk and arteries to the capillaries of the lung, is presented as percentage of the total weight of the body thus normalizing it to body weight. heart right ventricle weight as a percentage of body weight JSmith 2012-07-18T04:24:26Z Any measurement of the physical form or structure of the left ventricle of the heart. The left ventricle is the lower chamber of the left side of the heart, which pumps oxygenated blood out through the aorta to all the tissues of the body. Note, "left" in this context refers to the perspective of the organism, not that of the nobserver. heart left ventricle morphological measurement JSmith 2012-07-18T04:30:51Z Any measurement of the physical form or structure of the right ventricle of the heart. The right ventricle is the lower chamber of the right side of the heart (from the perspective of the organism rather than the observer), which pumps venous blood through the pulmonary trunk and arteries to the capillaries of the lung. heart right ventricle morphological measurement JSmith 2012-07-26T10:04:12Z Measurement of a localized pathological change in structure of a blood vessel due to injury or disease; especially one that is circumscribed and well defined. blood vessel lesion measurement JSmith 2012-07-26T12:15:46Z A measurement of blood vessel diameter which has been normalized or adjusted by a mathematical process or computation. Not4Curation calculated blood vessel diameter measurement JSmith 2012-07-26T12:18:48Z blood vessel wall thickness JSmith 2012-07-26T12:20:54Z A measurement of the depth of the wall of a blood vessel which has been normalized or adjusted by a mathematical process or computation. Not4Curation calculated blood vessel wall thickness measurement JSmith 2012-07-26T12:23:13Z A measurement of the depth of the wall of an artery, one of the large blood vessels carrying blood in a direction away from the heart to the tissues. artery wall thickness JSmith 2012-07-26T12:27:42Z A measurement of the depth of the wall of an artery which has been normalized or adjusted by a mathematical process or computation. An artery is one of the large blood vessels carrying blood in a direction away from the heart to the tissues. Not4Curation calculated artery wall thickness measurement JSmith 2012-07-26T12:32:00Z artery diameter JSmith 2012-07-26T12:39:26Z The length of a line which crosses a transverse view of a blood vessel, passing through its center and ending on either side at the inner surface of the blood vessel wall. blood vessel lumen diameter blood vessel inner diameter JSmith 2012-07-26T12:41:25Z The length of a line which crosses a transverse view of a blood vessel, passing through its center and ending on either side at the outer surface of the blood vessel wall. blood vessel outer diameter JSmith 2012-07-26T12:43:00Z The length of a line which crosses a transverse view of an artery, passing through its center and ending on either side at the inner surface of the blood vessel wall. artery lumen diameter artery inner diameter JSmith 2012-07-26T12:44:18Z The length of a line which crosses a transverse view of an artery, passing through its center and ending on either side at the outer surface of the blood vessel wall. artery outer diameter JSmith 2012-07-26T12:48:55Z Measurement of the length of a line which crosses a transverse view of an artery, passing through its center and ending on either side at either the inner surface or outer surface of the blood vessel wall, which has been normalized or adjusted by a mathematical process or computation. Not4Curation calculated artery diameter measurement JSmith 2012-07-26T12:57:08Z Any measurement of one of the large blood vessels carrying blood in a direction away from the heart to the tissues. artery measurement JSmith 2012-07-26T12:59:52Z Measurement of any localized pathological change in structure of an artery, one of the large blood vessels carrying blood in a direction away from the heart to the tissues, due to injury or disease; especially one that is circumscribed and well defined. artery lesion measurement JSmith 2012-07-26T02:04:57Z Measurement which has been normalized or adjusted by a mathematical process or computation of any localized pathological change in structure of an artery due to injury or disease; especially one that is circumscribed and well defined. Not4Curation calculated artery lesion measurement JSmith 2012-07-26T02:13:01Z Measurement which has been normalized or adjusted by a mathematical process or computation of any localized pathological change in structure of a blood vessel due to injury or disease; especially one that is circumscribed and well defined. Not4Curation calculated blood vessel lesion measurement JSmith 2012-07-26T02:14:51Z A calculated measurement in which the ratio of the wall thickness (WT) of a blood vessel is divided by the inner diameter (ID) of that vessel at that location, and the result presented as a ratio, fraction, quotient or percentage, for example, WT/ID x 100. This measurement is often used to assess stenosis, a pathological narrowing of a blood vessel. blood vessel wall thickness as percentage of blood vessel lumen diameter blood vessel stenosis measurement blood vessel wall thickness as percentage of blood vessel inner diameter blood vessel wall thickness to blood vessel inner diameter ratio JSmith 2012-07-26T02:16:51Z Ratio of the wall thickness (WT) of an artery to inner diameter (ID) of that artery at that location, usually expressed as a percentage, i.e. WT/ID x 100, but could also be expressed as a ratio, fraction or quotient. This measurement can be used to assess stenosis, a pathological narrowing of a blood vessel. arterial stenosis measurement artery wall thickness as percentage of artery inner diameter artery wall thickness as percentage of artery lumen diameter artery wall thickness to artery inner diameter ratio JSmith 2012-07-26T02:25:16Z A measurement of the length of a line which crosses a transverse view of an artery, passing through its center and ending on either side at the inner surface of the blood vessel wall, after that measurement has been normalized or adjusted by a mathematical process or computation. An artery is a blood vessel that carries blood away from the heart. Not4Curation calculated artery inner diameter measurement JSmith 2012-07-26T03:24:53Z Any measurement of components of the periodic tightening and loosening of the muscles of a ventricle of the heart. ventricle contraction measurement JSmith 2012-07-27T03:14:05Z The diameter across the left ventricle of the heart at the end of diastole, that is, when the heart muscle is maximally relaxed, and usually corresponds to its largest diameter. LVDD LVEDD left ventricular end-diastolic dimension heart left ventricular end-diastolic diameter JSmith 2012-07-27T03:32:16Z The diameter across the left ventricle of the heart at the end of systole, that is, when the heart muscle is maximally contracted, and usually corresponds to its smallest diameter. LVESD LVSD left ventricular end-systolic dimension heart left ventricle end-systolic diameter JSmith 2012-07-27T03:42:40Z A measurement of the physical form or structure of the left ventricle of the heart which has been normalized or adjusted by a mathematical process or computation. The heart left ventricle is the lower chamber of the left side of the heart, which pumps oxygenated blood out through the aorta to all the tissues of the body. calculated heart left ventricle morphological measurement JSmith 2012-07-27T03:51:33Z A calculated measurement corresponding to the ratio or percent reduction in left ventricular diameter between end-diastole and end-systole. Can be calculated as the left ventricle end-diastolic diameter (LVDd) minus the left ventricle end-systolic diameter (LVSd) divided by the left ventricle end-diastolic diameter (LVDd) with the quotient multiplied by 100, i.e. FS = [(LVDd-LVSd)/LVDd] x 100. heart left ventricle fractional shortening JSmith 2012-07-27T04:11:09Z The thickness or depth of the ventral/anterior wall of the left ventricle of the heart. The ventral/anterior wall is the portion of the muscle enclosing the ventricle which is farthest from the spine and closest to the chest wall of the organism. heart left ventricle ventral wall thickness heart left ventricle anterior wall thickness JSmith 2012-07-27T05:59:34Z The thickness or depth of the septal wall of the heart ventricles. The septal wall is the portion of the heart left ventricle ventral/anterior wall and right ventricle dorsal/posterior wall which is shared between the ventricles. heart ventricle septal wall thickness SWT antero-septal wall thickness heart interventricular septum thickness heart intraventricular wall thickness heart ventricle septum thickness heart ventricle septal wall thickness JSmith 2012-07-27T06:00:34Z A calculated measurement of left ventricular geometry and is calculated by dividing the end-diastolic diameter into 2x the posterior wall thickness, 2x the septal wall thickness or the sum of the posterior and septal wall thicknesses. It represents a measure of the wall thickness normalized to the size of the ventricle lumen. heart left ventricle relative wall thickness JSmith 2012-07-27T06:15:29Z A calculated measurement of left ventricular geometry and is calculated by dividing the end-diastolic diameter into 2x the posterior wall thickness at end-diastole, 2x the septal wall thickness at end-diastole or the sum of the posterior and septal wall thicknesses at end-diastole. It represents a measure of the wall thickness normalized to the size of the ventricle lumen. heart left ventricle end-diastolic relative wall thickness JSmith 2012-07-30T10:15:23Z The thickness or depth of the ventral/anterior wall of the heart. The ventral wall is the portion of the heart muscle which is farthest from the spine and closest to the chest wall of the organism. heart ventral wall thickness heart anterior wall thickness JSmith 2012-07-30T10:31:58Z Not4Curation calculated heart wall thickness measurement JSmith 2012-07-30T11:04:28Z heart relative wall thickness JSmith 2012-07-30T11:05:55Z heart ventricle relative wall thickness JSmith 2012-07-30T01:25:59Z The extent of shortening of the minor internal circumference (at the midpoint of the long axis) between end-diastole and end-systole, divided by the time required for shortening. mean circumferential fiber shortening rate mean VCF mean velocity of circumferential fiber shortening JSmith 2012-07-30T02:57:57Z The thickness or depth of the ventral/anterior wall of the right ventricle of the heart. The ventral wall is the portion of the muscle enclosing the ventricle which is farthest from the spine and closest to the chest wall of the organism. heart right ventricle ventral wall thickness heart right ventricle anterior wall thickness JSmith 2012-08-02T01:00:46Z Count of the number of glomeruli located in the superficial layer of the renal cortex, the cortex corticis. Glomeruli are the tufts of capillaries each situated within a Bowman's capsule at the end of a renal tubule in the vertebrate kidney that filter waste products from the blood and thus initiate urine formation. superficial glomeruli count superficial glomerulus count JSmith 2012-08-02T01:14:28Z Count of the number of glomeruli located in the superficial layer of the renal cortex, the cortex corticis, and directly in contact with the surface of the kidney, i.e. the renal capsule. Glomeruli are the tufts of capillaries each situated within a Bowman's capsule at the end of a renal tubule in the vertebrate kidney that filter waste products from the blood and thus initiate urine formation. surface glomeruli count count of superficial glomeruli directly contacting the kidney surface JSmith 2012-08-02T01:15:32Z Count of the number of glomeruli located in the superficial layer of the renal cortex, the cortex corticis but without any direct contact with the surface of the kidney, i.e. the renal capsule. Glomeruli are the tufts of capillaries each situated within a Bowman's capsule at the end of a renal tubule in the vertebrate kidney that filter waste products from the blood and thus initiate urine formation. count of superficial glomeruli not directly contacting the kidney surface JSmith 2012-08-03T06:05:33Z heart infarction volume JSmith 2012-08-03T06:17:05Z Measurement of any change or difference in the diastolic blood pressure between two points or two conditions. The diastolic pressure is the minimum arterial pressure within the cardiac cycle, usually at the point at which the heart is in a state of relaxation and expansion. This is the time when the ventricles fill with blood. Not4Curation change in diastolic blood pressure JSmith 2012-08-03T06:19:27Z The relative difference in the diastolic blood pressure between two points or two conditions, expressed as a percentage. The diastolic pressure is the minimum arterial pressure within the cardiac cycle, usually at the point at which the heart is in a state of relaxation and expansion. This is the time when the ventricles fill with blood. percent change in diastolic blood pressure JSmith 2012-08-13T01:16:23Z Calculated measurement of a difference in the pressure within the heart left ventricle at the point of maximal contraction, when the blood is forced from the left ventricle into the aorta, between two points in time or two conditions expressed as the result of the subtraction in and of itself without comparison by ratio with another quantity. The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. absolute change in left ventricular systolic blood pressure jsmith 2012-08-23T03:27:50Z Temperature measured at the surface of or within the head of an experimental subject. Because the temperature of the head/brain can influence neurological measurements, head temperature is or can be considered to be distinct from core body temperature. cranial temperature head temperature jsmith 2012-08-23T04:06:16Z The temperature of the internal tissues and organs of the body. core temperature core body temperature JSmith 2012-09-13T06:09:33Z A measurement which has been normalized or adjusted by a mathematical process or computation of the weight of the left ventricle of the heart, that is, its the heaviness or degree to which it is drawn toward the earth by gravity. The heart left ventricle is the lower chamber of the left side of the heart, which pumps oxygenated blood out through the aorta to all the tissues of the body. calculated heart left ventricle weight JSmith 2012-09-13T06:11:08Z calculated heart right ventricle weight JSmith 2012-09-13T06:14:55Z calculated heart right ventricle morphological measurement JSmith 2012-10-03T05:31:53Z The length of a line which crosses a transverse view of a cerebral artery, passing through its center and ending on either side at the inner surface of the blood vessel wall. The cerebral arteries are those which supply blood to the brain, more specifically, to the cerebrum. cerebral artery lumen diameter cerebral artery inner diameter JSmith 2012-10-03T05:39:47Z The length of a line which crosses a transverse view of an anterior cerebral artery, passing through its center and ending on either side at the inner surface of the blood vessel wall. The anterior cerebral artery (ACA) is one of a pair of arteries that supply oxygenated blood to the most medial portions of the frontal lobes and superior medial parietal lobes of the brain. ACA inner diameter anterior cerebral artery lumen diameter anterior cerebral artery inner diameter JSmith 2012-10-03T05:48:00Z The length of a line which crosses a transverse view of a middle cerebral artery, passing through its center and ending on either side at the inner surface of the blood vessel wall. The middle cerebral arteries are the largest of the cerebral arteries and supply blood to the lateral cerebral cortex, anterior temporal lobes and insular cortices of the brain. MCA inner diameter middle cerebral artery lumen diameter middle cerebral artery inner diameter JSmith 2012-10-03T05:59:18Z The length of a line which crosses a transverse view of a posterior cerebral artery, passing through its center and ending on either side at the inner surface of the blood vessel wall. The posterior cerebral artery (PCA) is one of a pair of blood vessels that supply blood to the posterior aspect, i.e. the occipital lobe, of the brain. PCA inner diameter posterior cerebral artery lumen diameter posterior cerebral artery inner diameter JSmith 2012-10-08T02:59:36Z Measurement of a lesion in kidney, he organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. A lesion is a localized pathological change in structure of an organ or tissue due to injury or disease; especially one that is circumscribed and well defined. kidney lesion measurement JSmith 2012-10-08T03:01:39Z Measurement of a lesion in the kidney, he organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes, which is not neoplastic in origin. A lesion is a localized pathological change in structure of an organ or tissue due to injury or disease; especially one that is circumscribed and well defined. Examples of non-tumorous lesions would include wounds, sores, ulcers, infarctions, etc. kidney non-tumorous lesion measurement JSmith 2012-10-08T03:03:01Z Measurement of a lesion in the kidney, he organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes, which is or has the potential to become a tumor, that is, a neoplasm or new growth of tissue in which cell multiplication is more or less uncontrolled and progressive. Tumorous lesions include tumors, preneoplastic lesions, and hyperplastic lesions composed of histologically normal cells. kidney tumorous lesion measurement JSmith 2012-10-08T03:09:04Z Any measurement of lesions resulting from fibrosis, scarring or hyaline deposits within a kidney glomerulus, a tuft of capillaries situated within a Bowman's capsule at the end of a renal tubule in the vertebrate kidney, that filters waste products from the blood and thus initiates urine formation. kidney glomerulosclerosis measurement renal glomerulosclerosis measurement renal glomerulosclerotic lesion measurement kidney glomerulosclerotic lesion measurement JSmith 2012-10-08T03:43:25Z A measurement of lesions resulting from fibrosis, scarring or hyaline deposits within one or more kidney glomeruli which has been normalized, adjusted or derived by a mathematical process or computation. calculated kidney glomerulosclerosis measurement calculated renal glomerulosclerosis measurement calculated renal glomerulosclerotic lesion measurement calculated kidney glomerulosclerotic lesion measurement JSmith 2012-10-08T03:45:56Z A measurement of lesions resulting from fibrosis, scarring or hyaline deposits within kidney glomeruli which is derived from a combination of multiple measurements and/or objective or subjective severity scores according to a specified formula or set of criteria. glomerular damage composite score glomerulosclerosis composite score glomerulosclerosis damage index index of glomerular damage JSmith 2012-10-12T05:28:37Z Any measurement, morphological or physiological of a muscle or a group of muscles. Muscles are organs or tissues composed of bundles of fibers that have the power to contract and hence to produce movement. muscle measurement JSmith 2012-10-15T11:45:27Z Measurement of the physical form or structure of one or more glomeruli in the kidney. Glomeruli are the tufts of capillaries each situated within a Bowman's capsule at the end of a renal tubule in the vertebrate kidney that filter waste products from the blood and thus initiate urine formation. kidney glomerulus morphological measurement JSmith 2012-10-15T11:48:00Z The length of a straight line passing through the center of a kidney glomerulus and connecting opposite points on its circumference. kidney glomerular diameter kidney glomerulus diameter JSmith 2012-10-15T11:55:42Z A measurement of the volume of blood delivered to or exiting from the kidneys per unit time, which has been normalized, adjusted or derived by a mathematical process or computation. calculated renal blood flow rate JSmith 2012-10-15T11:59:32Z The difference in the volume of blood delivered to or exiting from the kidneys per unit time between two points in time or two conditions expressed as the result of the subtraction in and of itself without comparison by ratio with another quantity. The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. absolute change in renal blood flow rate JSmith 2012-10-22T12:14:30Z The number of kidney glomeruli with lesions resulting from fibrosis, scarring or hyaline deposits, or the number of such lesions in a specified sample. damaged glomeruli count number of sclerotic glomeruli sclerotic glomeruli count sclerotic glomerulus count kidney glomerulosclerotic lesion count JSmith 2012-10-22T01:31:20Z Any measurement involving the composition, that is, the absolute amount, relative amount or type of one or more proteins (complex high molecular weight organic compounds containing carbon, hydrogen, oxygen, nitrogen, and sulfur consisting of alpha-amino acids joined by peptide linkages) or peptides (low molecular weight compounds composed of at least two amino acids joined by peptide linkages) in kidney. kidney tissue protein/peptide composition measurement kidney protein/peptide composition measurement JSmith 2012-10-22T03:13:42Z Any measurement, morphological or physiological of the outer part of the kidney, composed mainly of glomeruli and convoluted tubules. kidney cortex measurement renal cortex measurement JSmith 2012-10-22T03:20:09Z Any measurement, morphological or physiological, of the renal medulla, the innermost part of the kidney which contains the structures of the nephrons responsible for maintaining the salt and water balance of the blood. kidney medulla measurement renal medulla measurement JSmith 2012-10-22T03:28:36Z 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 kidney medulla, the innermost part of the kidney which contains the structures of the nephrons responsible for maintaining the salt and water balance of the blood. kidney medulla protein measurement renal medulla protein measurement JSmith 2012-10-22T03:31:18Z 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 renal cortex, the outer part of the kidney, composed mainly of glomeruli and convoluted tubules. kidney cortex protein measurement renal cortex protein measurement JSmith 2012-10-22T03:34:08Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the composition, that is, the absolute amount, relative amount 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 kidney. calculated renal protein composition measurement calculated kidney protein composition measurement JSmith 2012-10-22T03:41:53Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation involving the amount, composition or type of protein in the kidney cortex, the outer part of the kidney, composed mainly of glomeruli and convoluted tubules. calculated kidney cortex protein composition measurement calculated renal cortex protein composition measurement JSmith 2012-10-22T03:43:38Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation involving the amount, composition or type of protein in the renal medulla, the innermost part of the kidney which contains the structures of the nephrons responsible for maintaining the salt and water balance of the blood. calculated kidney medulla protein composition measurement calculated renal medulla protein composition measurement JSmith 2012-10-22T04:00:13Z A calculated value in which the amount of TRPV4 protein in a specified sample of kidney is divided by the amount of beta-actin protein in the same or a corresponding sample of kidney and presented as a ratio, fraction or quotient, thus normalizing it to the beta-actin protein level. renal TRPV4 protein level to beta-actin protein level ratio kidney TRPV4 protein level to beta-actin protein level ratio JSmith 2012-10-22T04:33:48Z A calculated value in which the amount of TRPV4 protein in a specified sample of renal cortex is divided by the amount of beta-actin protein in the same or a corresponding sample of renal cortex and presented as a ratio, fraction or quotient, thus normalizing it to the beta-actin protein level. kidney cortex TRPV4 protein level to beta-actin protein level ratio renal cortex TRPV4 protein level to beta-actin protein level ratio JSmith 2012-10-22T04:35:29Z A calculated value in which the amount of TRPV4 protein in a specified sample of renal medulla is divided by the amount of beta-actin protein in the same or a corresponding sample of renal medulla and presented as a ratio, fraction or quotient, thus normalizing it to the beta-actin protein level. kidney medulla TRPV4 protein level to beta-actin protein level ratio renal medulla TRPV4 protein level to beta-actin protein level ratio JSmith 2012-10-23T10:05:50Z The length of a line which crosses a transverse view of a cerebral artery, passing through its center and ending on either side at the inner surface of the blood vessel wall, after that measurement has been normalized or adjusted by a mathematical process or computation. The cerebral arteries are those which supply blood to the brain, more specifically, to the cerebrum. calculated cerebral artery inner diameter measurement JSmith 2012-10-23T10:06:14Z The length of a line which crosses a transverse view of a middle cerebral artery, passing through its center and ending on either side at the inner surface of the blood vessel wall, after that measurement has been normalized or adjusted by a mathematical process or computation. The middle cerebral arteries are the largest of the cerebral arteries and supply blood to the lateral cerebral cortex, anterior temporal lobes and insular cortices of the brain. calculated middle cerebral artery inner diameter measurement JSmith 2012-10-23T10:09:32Z A calculated measurement of the relative difference in the middle cerebral artery inner diameter between a treated state and a control state or between two points in time, expressed as a percentage. percent change in middle cerebral artery inner diameter JSmith 2012-11-12T15:45:39Z A measurement of the extent of a two-dimensional plane through the left ventricle of the heart at the end of diastole, that is, when the heart muscle is maximally relaxed, and usually corresponds to its largest diameter. EDA LVAd LVDa heart left ventricle end-diastolic area JSmith 2012-11-12T15:47:47Z A measurement of the extent of a two-dimensional plane through the left ventricle of the heart at the end of systole, that is, when the heart muscle is maximally contracted, and usually corresponds to its smallest diameter. ESA LVAs LVSa heart left ventricle end-systolic area JSmith 2012-11-15T15:35:17Z A calculated value in which the weight of the heart, the chambered, muscular organ that maintains the circulation of the blood, is divided by the length of the tibia, the inner and larger bone of the lower leg or hindlimb, and presented as a ratio, fraction, quotient or percentage, thus normalizing it to the length of the leg and, by extension, to the length of the body. heart weight to tibia length ratio JSmith 2012-11-15T15:38:38Z A calculated value in which the total weight after removal from the body but without desiccation of both kidneys is divided by the length of the tibia, the inner and larger bone of the lower leg or hindlimb, and presented as a ratio, fraction, quotient or percentage, thus normalizing it to the length of the leg and, by extension, to the length of the body. both kidneys wet weight to tibia length ratio JSmith 2013-01-07T13:24:24Z A calculated measurement of the ratio between the change in mean arterial blood pressure and the concentration of sodium infused directly into the ventricle(s) of the brain; calculated as the slope of the curve of mean arterial blood pressure versus intracerebroventricular-infused sodium concentration. change in mean arterial blood pressure to change in intracerebroventricular sodium concentration ratio JSmith 2013-01-07T13:34:46Z A calculated measurement of the ratio between the change in heart rate and the concentration of sodium infused directly into the ventricle(s) of the brain; calculated as the slope of the curve of heart rate versus intracerebroventricular-infused sodium concentration. change in heart rate to change in intracerebroventricular sodium concentration ratio JSmith 2013-01-07T15:55:09Z A value calculated by dividing the proportionate change in renal blood flow (RBF) by the proportionate change in renal perfusion pressure (RPP), i.e. (RBF2 - RBF1)/RBF1 divided by (RPP2 - RPP1)/RPP1. autoregulatory index ratio of renal blood flow change to renal perfusion pressure change ratio of change in renal blood flow to change in renal perfusion pressure JSmith 2013-01-08T14:41:50Z Any measurement of a lesion in the kidney characterized by an abnormal proliferation of fibrous connective tissue. A lesion is a localized pathological change in structure of an organ or tissue due to injury or disease; especially one that is circumscribed and well defined. kidney fibrotic lesion measurement JSmith 2013-01-08T14:54:45Z Any measurement of the physical dimensions, proportions, magnitude, or extent of a lesion in the kidney characterized by an abnormal proliferation of fibrous connective tissue. A lesion is a localized pathological change in structure of an organ or tissue due to injury or disease; especially one that is circumscribed and well defined. kidney fibrotic lesion size measurement JSmith 2013-01-08T15:03:27Z A measurement of the extent of a two-dimensional surface of or plane through a single kidney fibrotic lesion, or a measurement of the total area occupied by fibrotic lesions in a cross-section of the kidney. kidney fibrotic lesion area measurement JSmith 2013-01-08T15:17:52Z A measurement of the extent of a two-dimensional surface of or plane through a single kidney fibrotic lesion, or a measurement of the total area occupied by fibrotic lesions in a cross-section of the kidney, when that value has been normalized, adjusted or derived by a mathematical process or computation. calculated kidney fibrotic lesion area measurement JSmith 2013-01-08T15:20:55Z A calculated value in which the extent of the two-dimensional surface occupied by fibrotic lesions is divided by the total extent of the two-dimensional surface of the kidney and presented as a ratio, fraction, quotient or percentage, thus normalizing it to the size of the kidney. kidney fibrotic lesion area to total kidney area ratio JSmith 2013-01-08T16:28:12Z A calculated value in which the number of glomeruli with lesions resulting from fibrosis, scarring or hyaline deposits is divided by the total number of glomeruli in a specified sample of kidney and presented as a ratio, fraction or quotient, thus normalizing it to the total number of glomeruli. sclerotic glomeruli to total glomeruli ratio kidney glomerulosclerotic lesion count to total glomeruli count ratio kidney sclerotic glomeruli count to total glomeruli count ratio JSmith 2013-01-09T15:09:49Z The combined weight of both ventricles of the heart, that is, their heaviness or the degree to which they are drawn toward the earth by gravity. The ventricles are the lower chambers of the heart that pump blood away from the heart either to the lungs to be oxygenated or, once oxygenated, to the rest of the body. total heart ventricle weight JSmith 2013-01-09T16:00:43Z A measurement of the combined weight of both heart ventricles that has been normalized, adjusted or derived by a mathematical process or computation. Not4Curation calculated total heart ventricle weight JSmith 2013-01-09T16:03:12Z A calculated value in which the combined weight of both the left and right ventricles, the lower chambers of the heart that pump blood away from the heart either to the lungs to be oxygenated or, once oxygenated, to the rest of the body, is presented as percentage of the total weight of the body thus normalizing it to body weight. total heart ventricle weight as a percentage of body weight JSmith 2013-01-15T10:37:51Z Any measurement of the cavity or channel within an artery, one of the large blood vessels carrying blood in a direction away from the heart to the tissues. artery lumen measurement JSmith 2013-01-15T10:50:23Z A measurement of the two-dimensional extent of the enclosed cavity or channel in a cross-section of an artery, one of the large blood vessels carrying blood in a direction away from the heart to the tissues. artery lumen area JSmith 2013-01-15T11:04:30Z Any measurement of the fibrous and muscular structure of one of the large blood vessels carrying blood in a direction away from the heart to the tissues. The wall of an artery is composed of three layers: the tunica intima, the inner coat; the tunica media, the middle coat; and the tunica adventitia, the outer coat. arterial wall measurement artery wall measurement JSmith 2013-01-15T11:17:48Z Any measurement of the tunica media, or middle coat, of the wall of an artery, one of the large blood vessels carrying blood in a direction away from the heart to the tissues. arterial tunica media measurement artery tunica media measurement JSmith 2013-01-15T11:21:04Z A direct measurement of two dimensional extent of the tunica media, the middle coat of the arterial wall, in a cross-section of an artery, one of the large blood vessels carrying blood in a direction away from the heart to the tissues. The total area of the tunica media gives an indication of the thickness of the arterial wall. arterial tunica media area media area (MA) of artery artery tunica media area JSmith 2013-01-15T11:34:35Z A calculated measurement of the average width of the tunica media, the middle coat of the arterial wall. Can be calculated using the media area and the length of the internal elastic lamina. arterial tunica media width media width (MW) of artery artery tunica media width JSmith 2013-01-15T12:10:01Z A measurement of the extent of a two-dimensional surface of or plane through a single hyperplastic lesion of the tunica intima, that is, the inner coat of the arterial wall, or a measurement of the total area occupied by hyperplastic lesions of the tunica intima in a cross-section of an artery, one of the large blood vessels carrying blood in a direction away from the heart to the tissues. A hyperplastic lesion is a localized pathological increase in the number of cells of an organ or tissue resulting from an increased rate of cellular division due to injury or disease; especially one that is circumscribed and well defined. artery intimal hyperplastic lesion area neointimal hyperplasia area of artery artery neointimal hyperplastic lesion area JSmith 2013-01-15T12:33:00Z Any measurement of one or more hyperplastic lesions of the arterial tunica intima which has been normalized, adjusted or derived by a mathematical process. calculated arterial intima hyperplasia area calculated artery neointimal hyperplastic lesion area JSmith 2013-01-15T12:33:16Z A calculated measurement in which the area of the arterial tunica intima occupied by one or more hyperplastic lesions is divided by the total cross-sectional area of the artery wall and presented as a ratio, fraction, quotient or percentage. ratio of neointimal hyperplasia area to total wall area of artery artery neointimal hyperplastic lesion area to total wall area ratio JSmith 2013-01-15T12:50:46Z The area of the arterial lumen remaining when the luminal space is restricted by a pathological process, e.g. hyperplasia. residual lumen area of diseased artery lesioned artery residual lumen area JSmith 2013-01-16T13:36:09Z The weight after desiccation of both kidneys, the paired organs which function to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. both kidneys dry weight JSmith 2013-01-16T13:36:57Z The weight after desiccation of a single kidney, one of the paired organs which function to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. individual kidney dry weight single kidney dry weight JSmith 2013-01-21T16:32:31Z Any measurement of the great artery arising from the left ventricle from which the systemic arterial system proceeds. aorta measurement JSmith 2013-01-21T16:37:23Z Any quantification of the physical form or structure of the great artery arising from the left ventricle from which the systemic arterial system proceeds. aorta morphological measurement JSmith 2013-01-25T12:50:21Z The speed at which the blood flows through the circulatory system or through a specific segment of a vein or artery, expressed as distance per unit of time. blood flow velocity JSmith 2013-01-25T12:56:43Z The speed at which the blood flows through an artery, expressed as distance per unit of time. arterial blood flow velocity JSmith 2013-01-25T13:10:05Z The speed at which the blood flows through the aorta, the great artery arising from the left ventricle from which the systemic arterial system proceeds, expressed as distance per unit of time. aortic blood flow velocity JSmith 2013-01-25T13:15:01Z Any measurement of the movement of blood through the aorta, the great artery arising from the left ventricle from which the systemic arterial system proceeds. aortic blood flow measurement JSmith 2013-01-25T13:18:41Z The volume of blood flowing through the aorta, the great artery arising from the left ventricle from which the systemic arterial system proceeds, per unit of time. aortic blood flow rate JSmith 2013-01-25T13:21:50Z The maximum speed at which the blood flows through the aorta during the cardiac cycle, expressed as distance per unit of time. aortic peak velocity (APV) maximum aortic velocity peak aortic blood flow velocity peak of aortic outflow velocity (PAV) peak aortic velocity JSmith 2013-01-25T13:29:29Z The length of time in the cardiac cycle between the closing of the aortic and pulmonic/pulmonary semilunar valves and opening of the atrioventricular (AV) valves marking the beginning of ventricular filling. Used as an indicator of diastolic dysfunction. IVRT heart isovolumetric relaxation time JSmith 2013-01-25T13:35:08Z Measurement of the physical form or structure of the left upper chamber of the heart that receives blood from the veins and forces it into the left ventricle. heart left atrium morphological measurement JSmith 2013-01-25T13:42:05Z Measurement of the physical form or structure of the right upper chamber of the heart that receives blood from the veins and forces it into the right ventricle. heart right atrium morphological measurement JSmith 2013-01-25T13:51:15Z The distance between two specified opposite points on the periphery of the left atrium of the heart at the end of systole, that is, when the left ventricle is maximally contracted, and usually corresponds to the left atrium's largest diameter. heart left atrium end-systolic diameter JSmith 2013-01-25T15:50:33Z The distance between two specified opposite points on the periphery of the left atrium of the heart at the end of diastole, that is, when the left ventricle is maximally dilated, and usually corresponds to the left atrium's smallest diameter. heart left atrium end-diastolic diameter JSmith 2013-01-25T15:51:30Z A measurement of the physical form or structure of the left atrium, the left upper chamber of the heart that receives blood from the veins and forces it into the left ventricle, which has been normalized, adjusted or derived by a mathematical process or computation. calculated heart left atrium morphological measurement JSmith 2013-01-25T16:00:18Z A calculated measurement corresponding to the ratio or percent reduction in left atrial diameter between end-systole and end-diastole. It is calculated as the left atrium end-systolic diameter (LADs) minus the left atrium end-diastolic diameter (LADd) divided by the left atrium end-systolic diameter (LADs). heart left atrium fractional shortening JSmith 2013-01-28T16:41:10Z Measurement of the number of white blood cells, including lymphocytes and monocytes, with a single round or oval nucleus in a specified volume of blood. mononuclear leukocyte count blood mononuclear cell count JSmith 2013-01-30T14:16:47Z A measurement of the movement of blood through one or more vessels or organs in the body which has been normalized, adjusted or derived by a mathematical process or computation. calculated blood flow measurement JSmith 2013-03-15T17:22:25Z Any measurement of the thick contractile middle layer of uniquely constructed and arranged muscle cells that forms the bulk of the heart wall. myocardium measurement JSmith 2013-03-15T17:29:25Z The volume of fluid flowing into, out of or through the blood vessels and microvasculature of the myocardium, the thick contractile middle layer of uniquely constructed and arranged muscle cells that forms the bulk of the heart wall, per unit time. myocardial flow rate JSmith 2013-03-15T17:38:35Z Measurement of the amount of radioactive or other tracer is lost from the myocardium, the thick contractile middle layer of uniquely constructed and arranged muscle cells that forms the bulk of the heart wall, per unit time. myocardial clearance rate JSmith 2013-06-18T10:33:25Z A value resulting from the quantification of a morphological or physiological parameter of vascular smooth muscle, the contractile soft tissue having fine myofibrils but lacking transverse striations composing the majority of the wall of blood vessels, the network of muscular tubes that carry blood through the body. vascular smooth muscle measurement Not4Curation blood vessel smooth muscle measurement JSmith 2013-06-18T10:41:10Z Any quantification of the physical form or structure of the layered tissue which encloses and constitutes the structural component of the great artery arising from the left ventricle from which the systemic arterial system proceeds. aortic wall morphological measurement aorta wall morphological measurement JSmith 2013-06-18T10:42:34Z Measurement of the total number of cells, membrane-enclosed protoplasmic masses constituting the smallest structural unit of an organism that is capable of independent functioning, in a specified sample of the aorta smooth muscle, the contractile soft tissue having fine myofibrils but lacking transverse striations composing the majority of the wall of the great artery arising from the left ventricle from which the systemic arterial system proceeds. aortic smooth muscle cell count aorta smooth muscle cell count JSmith 2013-06-18T11:29:28Z Measurement of the total number of cells, membrane-enclosed protoplasmic masses constituting the smallest structural unit of an organism that is capable of independent functioning, in a specified sample of vascular smooth muscle, the contractile soft tissue having fine myofibrils but lacking transverse striations composing the majority of the wall of blood vessels, the network of muscular tubes that carry blood through the body. vascular smooth muscle cell count blood vessel smooth muscle cell count JSmith 2013-06-18T12:57:40Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation of the total number of cells, membrane-enclosed protoplasmic masses constituting the smallest structural unit of an organism that is capable of independent functioning, in a specified sample of vascular smooth muscle, the contractile soft tissue having fine myofibrils but lacking transverse striations composing the majority of the wall of blood vessels, the network of muscular tubes that carry blood through the body. calculated vascular smooth muscle cell count calculated blood vessel smooth muscle cell count JSmith 2013-06-18T12:59:11Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation of the total number of cells, membrane-enclosed protoplasmic masses constituting the smallest structural unit of an organism that is capable of independent functioning, in a specified sample of the aorta smooth muscle, the contractile soft tissue having fine myofibrils but lacking transverse striations composing the majority of the wall of the great artery arising from the left ventricle from which the systemic arterial system proceeds. calculated aortic smooth muscle cell count calculated aorta smooth muscle cell count JSmith 2013-06-18T13:25:39Z A calculated value in which the total number of cells, membrane-enclosed protoplasmic masses constituting the smallest structural unit of an organism that is capable of independent functioning, in a specified sample of the aorta smooth muscle, the contractile soft tissue having fine myofibrils but lacking transverse striations composing the majority of the wall of the great artery arising from the left ventricle from which the systemic arterial system proceeds, is divided by the length of the smooth muscle section in which that number is determined. aortic smooth muscle cell count per unit vessel length aorta smooth muscle cell count per unit vessel length JSmith 2013-06-18T14:44:11Z The amount of deoxyribonucleic acid (DNA), the molecule composed of the sugar deoxyribose, phosphate groups and any combination of the bases adenine, guanine, cytosine, and/or thymine, extracted from or contained in the heart left ventricle, the lower chamber of the left side of the heart (from the perspective of the organism rather than the observer), which pumps oxygenated blood out through the aorta to all the tissues of the body. heart LV DNA content heart left ventricle DNA content heart left ventricle deoxyribonucleic acid content JSmith 2013-06-18T14:46:40Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the amount of deoxyribonucleic acid (DNA), the molecule composed of the sugar deoxyribose, phosphate groups and any combination of the bases adenine, guanine, cytosine, and/or thymine, extracted from or contained in the heart left ventricle, the lower chamber of the left side of the heart (from the perspective of the organism rather than the observer), which pumps oxygenated blood out through the aorta to all the tissues of the body. calculated heart LV DNA content calculated heart left ventricle DNA content calculated heart left ventricle deoxyribonucleic acid content JSmith 2013-06-18T14:49:33Z A calculated measurement in which amount of deoxyribonucleic acid (DNA), the molecule composed of the sugar deoxyribose, phosphate groups and any combination of the bases adenine, guanine, cytosine, and/or thymine, extracted from or contained in the heart left ventricle, the lower chamber of the left side of the heart (from the perspective of the organism rather than the observer), which pumps oxygenated blood out through the aorta to all the tissues of the body, is divided by the total weight or heaviness of the body and presented as a ratio, fraction, quotient or percentage, thus normalizing it to body weight and, by extension, to the size of the organism. heart LV DNA content to body weight ratio heart left ventricle DNA content to BW ratio heart left ventricle DNA content to body weight ratio heart left ventricle deoxyribonucleic acid content to body weight ratio JSmith 2013-06-18T14:52:32Z The amount of deoxyribonucleic acid (DNA), the molecule composed of the sugar deoxyribose, phosphate groups and any combination of the bases adenine, guanine, cytosine, and/or thymine, extracted from or contained in the heart right ventricle, the lower chamber of the right side of the heart (from the perspective of the organism rather than the observer), which pumps venous blood through the pulmonary trunk and arteries to the capillaries of the lung. heart RV DNA content heart right ventricle DNA content heart right ventricle deoxyribonucleic acid content JSmith 2013-06-18T14:54:27Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the amount of deoxyribonucleic acid (DNA), the molecule composed of the sugar deoxyribose, phosphate groups and any combination of the bases adenine, guanine, cytosine, and/or thymine, extracted from or contained in the heart right ventricle, the lower chamber of the right side of the heart (from the perspective of the organism rather than the observer), which pumps venous blood through the pulmonary trunk and arteries to the capillaries of the lung. calculated heart RV DNA content calculated heart right ventricle DNA content calculated heart right ventricle deoxyribonucleic acid content JSmith 2013-06-18T14:56:34Z A calculated measurement in which amount of deoxyribonucleic acid (DNA), the molecule composed of the sugar deoxyribose, phosphate groups and any combination of the bases adenine, guanine, cytosine, and/or thymine, extracted from or contained in the heart right ventricle, the lower chamber of the right side of the heart (from the perspective of the organism rather than the observer), which pumps venous blood through the pulmonary trunk and arteries to the capillaries of the lung, is divided by the total weight or heaviness of the body and presented as a ratio, fraction, quotient or percentage, thus normalizing it to body weight and, by extension, to the size of the organism. heart RV DNA content to body weight ratio heart right ventricle DNA content to BW ratio heart right ventricle DNA content to body weight ratio heart right ventricle deoxyribonucleic acid content to body weight ratio JSmith 2013-06-20T14:09:54Z Measurement of the highest achievable amount of energy produced by the active reduction in the diameter of a blood vessel, any one of the network of muscular tubes that carry blood through the body, resulting from a contraction of the muscular wall of the vessel which does not involve the action of a receptor, a molecule on the surface or within a cell that recognizes and binds with specific molecules, producing a specific effect. blood vessel receptor-independent maximum contractility receptor-independent blood vessel maximum contractile force JSmith 2013-06-20T14:10:59Z Measurement of the highest achievable amount of energy produced by the active reduction in the diameter of a blood vessel, any one of the network of muscular tubes that carry blood through the body, resulting from a contraction of the muscular wall of the vessel which is instigated by the activation of a receptor, a molecule on the surface or within a cell that recognizes and binds with specific molecules, producing a specific effect. blood vessel receptor-dependent maximum contractility receptor-dependent blood vessel maximum contractile force JSmith 2013-06-20T14:12:17Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the highest achievable amount of energy produced by the active reduction in the diameter of a blood vessel, any one of the network of muscular tubes that carry blood through the body, resulting from contraction of the muscular wall of the vessel. calculated blood vessel maximum contractile force measurement JSmith 2013-06-20T14:14:00Z A calculated measurement in which the receptor-dependent maximum contractile force of a blood vessel is divided by the receptor-independent maximum contractile force of a blood vessel and presented as a ratio, fraction, quotient or percentage. The maximum contractile force of a blood vessel is the highest achievable amount of energy produced by the active reduction in the diameter of a blood vessel, any one of the network of muscular tubes that carry blood through the body, resulting from a contraction of the muscular wall of the vessel. Receptor-dependent refers to such a contraction which is instigated by the activation of a receptor, a molecule on the surface or within a cell that recognizes and binds with specific molecules, producing a specific effect. Receptor-independent denotes such a contraction that does not involve the action of a receptor. blood vessel receptor-dependent contractility to receptor-independent contractility ratio receptor-dependent blood vessel maximum contractile force exoressed as a percentage of receptor-independent blood vessel maximum contractile force receptor-dependent blood vessel maximum contractile force to receptor-independent blood vessel maximum contractile force ratio JSmith 2013-06-20T14:22:08Z A calculated value for the concentration of angiotensin II (AngII), the octapeptide, Asp-Arg-Val-Tyr-Ile-His-Pro-Phe, that is derived from angiotensinogen and acts as a powerful vasopressor and stimulator of aldosterone secretion, at which the energy produced by the active reduction in the diameter of a blood vessel in response to the application of AngII is halfway between the baseline value and the highest achievable value of such AngII-induced contractile energy. Ang2 half maximal effective concentration AngII half maximal effective concentration angiotensin 2 half maximal effective concentration angiotensin II half maximal effective concentration (EC50) concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (EC50) JSmith 2013-06-20T14:24:41Z A calculated value for logarithm of the concentration of angiotensin II (AngII), the octapeptide, Asp-Arg-Val-Tyr-Ile-His-Pro-Phe, that is derived from angiotensinogen and acts as a powerful vasopressor and stimulator of aldosterone secretion, at which the energy produced by the active reduction in the diameter of a blood vessel in response to the application of AngII is halfway between the baseline value and the highest achievable value of such AngII-induced contractile energy. The logarithm of the concentration is the exponent indicating the power to which 10 must be raised to obtain that concentration value. Ang2 Log half maximal effective concentration AngII Log half maximal effective concentration angiotensin 2 Log half maximal effective concentration angiotensin II Log half maximal effective concentration (EC50) logarithm of the concentration of angiotensin II at which the force of blood vessel contraction is half the maximum value (Log EC50) JSmith 2013-06-20T15:45:33Z Measurement of an organism's, organ's, tissue's or cell's capacity to respond, such as by a change in activity, state or condition, to angiotensin II (AngII), the octapeptide, Asp-Arg-Val-Tyr-Ile-His-Pro-Phe, that is derived from angiotensinogen and acts as a powerful vasopressor and stimulator of aldosterone secretion. angiotensin II response/sensitivity measurement JSmith 2013-07-31T13:40:52Z The difference in left ventricular diastolic blood pressure between two points in time or two conditions expressed as the result of the subtraction in and of itself without comparison by ratio with another quantity. absolute change in LVDBP The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. absolute change in left ventricular diastolic blood pressure JSmith 2013-07-31T15:17:53Z Any measurement of the blood pressure in the left ventricle of the heart which has been normalized or adjusted by a mathematical process or computation. Left ventricular blood pressure is the pressure, or force per area, exerted by circulating blood against the walls of the left ventricle, the lower chamber of the left side of the heart, which pumps oxygenated blood out through the aorta to all the tissues of the body. calculated left ventricular pressure calculated left ventricular blood pressure JSmith 2013-07-31T15:24:11Z A calculated measurement that is used as an index to characterize the contractile ability of the heart. It is believed that maximum dP/dt is a reasonable index of the initial velocity of myocardial contraction. LV +dP/dt Max peak +LVdP/dt rate of maximum positive change in left ventricular blood pressure maximum rate of positive change in left ventricular blood pressure JSmith 2013-07-31T15:27:12Z A calculated hemodynamic measurement related to the ability of the heart left ventricle to relax. The point at which the negative pressure fall velocity reaches its peak is taken to be the onset of isovolumic relaxation of the left ventricle. LV -dP/dt Max peak -LVdP/dt rate of maximum negative change in left ventricular blood pressure maximum rate of negative change in left ventricular blood pressure JSmith 2013-07-31T15:29:00Z A calculated hemodynamic value related to the ability of the heart left ventricle to relax. Tau is calculated as an exponential function of the change in intraventricular pressure during the diastolic isovolumic left ventricular pressure decrease. time constant of left ventricular relaxation time constant of left ventricular pressure decay JSmith 2013-10-16T12:18:32Z The thickness or depth (i.e. the measurement of the two-dimensional extent of the distance between the inner and outer surfaces) of the dorsal/posterior wall of the left ventricle of the heart at the end of systole, that is, when the heart muscle is maximally contracted. The dorsal wall is the portion of the muscle enclosing the ventricle which is closest to the spine and farthest from the chest wall of the organism. The left ventricle is the lower chamber of the left side of the heart, which pumps oxygenated blood out through the aorta to all the tissues of the body. end-systolic heart left ventricle posterior wall thickness end-systolic heart left ventricle PWT Note that "left" in this context refers to the perspective of the organism, not that of the observer. heart left ventricle end-systolic posterior wall thickness JSmith 2013-11-04T17:14:28Z Any quantification of the amounts or proportions of proteins, lipids, minerals, nutrients, gases, or other substances ina specified sample of kidney tissue, that is, tissue from one or both of the paired organs which function to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. kidney molecular composition measurement JSmith 2013-11-04T17:16:16Z Quanitification of one or more lipids in a specified sample of kidney tissue, that is, tissue from one or both of the paired organs which function to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. A lipid is any of a structurally diverse group of organic compounds that are insoluble in water but soluble innonpolar solvents that, among other biological functions, serve as a source of fuel and are an important constituent of cell structure. kidney lipid composition measurement JSmith 2013-11-04T17:22:56Z The amount of 20-hydroxyeicosatetraenoic acid, a vasoconstrictor that consists of arachidonic acid (a C20, polyunsaturated fatty acid having four (Z)-double bonds at positions 5, 8, 11 and 14) bearing a hydroxy substituent at position 20, in a specified sample of kidney tissue, that is, tissue from one or both of the paired organs which function to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. kidney 20-hydroxyeicosatetraenoic acid level kidney 20-HETE level JSmith 2013-11-07T16:12:26Z The number of immune cells in a specified sample. An immune cell is any cell involved in the immune system, a complex set of interconnected and interdependent cellular and molecular components having the primary functions of distinguishing self from not self and of defense against foreign organisms or substances. A cell is a membrane-enclosed protoplasmic mass constituting the smallest structural unit of an organism that is capable of independent functioning. immune cell count JSmith 2013-11-08T16:00:08Z The difference in the pulse pressure of an individual between two points in time or two conditions expressed as the result of the subtraction in and of itself without comparison by ratio with another quantity. Pulse pressure is the difference between systolic and diastolic blood pressures, i.e. the difference between the maximal arterial pressure and minimal arterial pressure during the cardiac cycle. The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. absolute change in pulse pressure JSmith 2013-11-18T15:00:01Z A calculated measurement of the degree to which a change in the size of the remaining kidney after surgical removal of the other kidney can be attributed to compensatory growth, calculated as the ratio of the normalized weight of a single kidney at the time of surgical removal divided by the similarly normalized weight of the single remaining kidney at a specified period of time after removal. The normalized kidney weight is the weight of the kidney corrected for body weight using an empirically determined allometric scaling factor (i.e., an exponential factor which adjusts for the normal increase in kidney weight due to normal growth and development of the individual). Compensatory growth is the phenomenon in which the impaired function of one organ in a paired organ system or of part of an organ in a single organ system is followed by enlargement of the surviving organ or tissue so that functional capacity is maintained. Kidney is the paired organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. CRG score compensatory renal growth score JSmith 2013-11-18T16:20:39Z A calculated measurement in which the difference in the volume of blood delivered to and/or exiting from the kidneys per unit time between two points in time or two conditions is divided by the weight (heaviness or degree to which a body is drawn toward the earth by gravity) of one or both kidneys, and presented as a ratio, fraction, quotient or percentage. The kidney is the paired organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. ratio of change in renal blood flow rate to kidney weight JSmith 2013-11-18T17:22:16Z A measurement of the degree to which the blood vessels of the kidneys impede the flow of blood through them. Renal vascular resistance is calculated as the renal blood flow rate divided by the mean arterial pressure. kidney vascular resistance renal vascular resistance JSmith 2013-11-18T17:23:40Z A measurement that has been normalized, adjusted or derived by a mathematical process or computation, of the degree to which the blood vessels of the kidneys impede the flow of blood through them. Blood vessels are the network of muscular tubes that carry blood throughout the body. Blood is the fluid that circulates through the heart, arteries, capillaries and veins carrying nutrients and oxygen to the body tissues and metabolites away from them. Kidney is the paired organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. calculated kidney vascular resistance calculated renal vascular resistance JSmith 2013-11-18T17:26:57Z The difference in renal vascular resistance between two points in time or two conditions expressed as the result of the subtraction in and of itself without comparison by ratio with another quantity. Renal vascular resistance is the degree to which the blood vessels of the kidneys impede the flow of blood through them. Blood vessels are the network of muscular tubes that carry blood throughout the body. Blood is the fluid that circulates through the heart, arteries, capillaries and veins carrying nutrients and oxygen to the body tissues and metabolites away from them. Kidney is the paired organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. absolute change in kidney vascular resistance The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. absolute change in renal vascular resistance JSmith 2013-11-18T17:27:01Z A calculated measurement of the slope, the ratio of vertical change to horizontal change, of the line of a graph designating the change in renal vascular resistance in response to a drug or other condition which causes constriction or reduction of the interior diameter of blood vessels. Renal vascular resistance is the degree to which the blood vessels of the kidneys impede the flow of blood through them. Blood vessels are the network of muscular tubes that carry blood throughout the body. Blood is the fluid that circulates through the heart, arteries, capillaries and veins carrying nutrients and oxygen to the body tissues and metabolites away from them. Kidney is the paired organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. slope of constriction-induced renal vascular resistance curve slope of contraction-induced kidney vascular resistance curve slope of contraction-induced renal vascular resistance curve JSmith 2013-11-19T13:00:18Z The enumeration, i.e. measurement of the total number, of defects or lesions of the internal elastic lamina which are not hyperplastic or neoplastic in origin in a specified sample of artery. A lesion is a localized pathological change in structure of an organ or tissue due to injury or disease; especially one that is circumscribed and well defined. The internal elastic lamina (IEL) is a fenestrated (perforated) layer of elastic tissue, i.e., one having the property of returning to the original shape after being distorted, that is the outermost part of the intima (innermost layer) of an artery. The IEL is the elastic layer that is situated between the tunica intima (inner layers) and tunica media (middle layers) of artery walls. An artery is any one of the branching system of muscular, elastic blood vessels that carry blood away from the heart. artery internal elastic lamina defect count artery internal elastic lamina non-tumorous lesion count JSmith 2013-11-19T14:28:34Z The amount of plasma that perfuses the kidneys per unit time. Plasma is the fibrinogen-containing fluid portion of the blood in which the particulate components are suspended. The kidneys are the paired organs that function to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. renal plasma flow rate RPF renal plasma flow JSmith 2013-11-19T14:51:51Z A calculated measurement in which the effective renal plasma flow rate (eRPF) is divided by weight (i.e. the heaviness or the degree to which an object is drawn toward the earth by gravity) of both kidneys and presented as a ratio, fraction, quotient or percentage. The eRPF is the amount of plasma that perfuses the renal tubules per unit time, derived by measurement of the clearance rate of a non-metabolizable solute such as para-aminohippurate (PAH). Plasma is the fibrinogen-containing fluid portion of the blood in which the particulate components are suspended. The kidneys are the paired organs that function to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. effective renal plasma flow rate to both kidney weight ratio eRPF to both kidney weight ratio ratio of the effective renal plasma flow to the weight of both kidneys JSmith 2013-11-19T14:52:06Z A calculated measurement of the amount of plasma that perfuses the renal tubules per unit time, derived by measurement of the clearance rate of a non-metabolizable solute such as para-aminohippurate (PAH). The effective RPF is approximately 10% less than the actual RPF. Plasma is the fibrinogen-containing fluid portion of the blood in which the particulate components are suspended. The kidneys are the paired organs that function to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. effective renal plasma flow rate eRPF effective renal plasma flow JSmith 2013-11-19T14:52:10Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the amount of plasma that perfuses the kidneys per unit time. Plasma is the fibrinogen-containing fluid portion of the blood in which the particulate components are suspended. The kidneys are the paired organs that function to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. calculated renal plasma flow rate calculated RPF calculated renal plasma flow JSmith 2013-11-26T15:36:46Z Any measurement that has been normalized, adjusted or derived by a mathematical process or computation, of the weight of only one of the kidneys, the paired organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. calculated single kidney weight JSmith 2013-11-26T15:39:42Z Any measurement that has been normalized, adjusted or derived by a mathematical process or computation, of the weight of both (the complete set of two) of the kidneys, the paired organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. calculated both kidneys weight JSmith 2013-11-26T15:48:04Z A calculated measurement in which the weight after removal from the body but without desiccation of only the single right kidney is divided by the total weight of the body and presented as a ratio, fraction, quotient or percent, thus normalizing it to body weight and by extension to the size of the organism. The right kidney is the organ which lies on the right side of the body from the perspective of the subject. individual right kidney wet weight to body weight ratio right kidney wet weight to body weight ratio JSmith 2013-11-26T15:48:07Z A calculated measurement in which the weight after removal from the body but without desiccation of only the left kidney is divided by the total weight of the body and presented as a ratio, fraction, quotient or percent, thus normalizing it to body weight and, by extension, to the size of the organism. The left kidney is the organ which lies on the left side of the body from the perspective of the subject. individual left kidney wet weight to body weight ratio left kidney wet weight to body weight ratio JSmith 2013-11-26T16:04:13Z A calculated measurement in which the value for the volume of blood delivered to and/or exiting from the kidneys per unit time is divided by the weight (heaviness or degree to which an object is drawn toward the earth by gravity) of one or both kidneys, and presented as a ratio, fraction, quotient or percentage. renal blood flow rate to kidney weight ratio JSmith 2013-12-02T10:53:31Z A calculated measurement in which difference in the mean arterial blood pressure between two or more dosages of a drug or chemical which reduces the interior diameter of blood vessels is divided by difference in the logarithm of the applied dosages and presented as a ratio, fraction, quotient or percentage. The value is calculated as the slope of the curve of the mean arterial blood pressure versus log of the vasoconstrictor dose [VC] graph, given by the equation (log[VC]2 - log[VC]1)/(MAP at [VC]2 - MAP at [VC]1). A logarithm is the power to which a base, such as 10, must be raised to produce a given number. change in MAP to change in log[vasoconstrictor] ratio change in mean arterial blood pressure to change in the logarithm of the vasoconstrictor dose ratio JSmith 2013-12-02T11:03:44Z Measurement of the length of a straight line passing through the center and connecting opposite points on the circumference of a circle delineating the outer limits of a glomerulosclerotic lesion. kidney glomerulosclerotic lesion diameter JSmith 2013-12-02T11:54:57Z A calculated measurement in which the diameter of kidney glomerular injury is divided by the value of the mean arterial blood pressure and presented as a ratio, fraction, quotient or percentage, for example to give an index of kidney damage relative to the level of hypertension. kidney glomerulosclerotic lesion diameter to mean arterial blood pressure ratio JSmith 2013-12-03T17:32:45Z Measurement of the physical form or structure of one or more blood vessels, the network of muscular tubes that carry blood through the body. blood vessel morphological measurement JSmith 2013-12-03T18:01:02Z Any quantitation of the molecules, atoms and/or ions which constitute the chemical make-up of the wall of the aorta, the layered tissue which encloses and constitutes the structural component of the great artery arising from the left ventricle from which the systemic arterial system proceeds. A molecule is an aggregation of atoms, specifically a chemical combination of two or more atoms forming a specific chemical substance. aortic wall molecular composition measurement aorta wall molecular composition measurement JSmith 2013-12-03T18:08:51Z The amount of elastin in a specified sample of aorta wall tissue. Elastin is an elastic, fibrous mucoprotein, similar to collagen, and the major connective tissue protein of elastic fibers, such as those in arterial walls. aortic wall elastin level aorta wall extracellular elastin level JSmith 2013-12-03T18:13:06Z The amount of collagen in a specified sample of aorta wall tissue. Collagen refers to any of a family of extracellular, closely related proteins occurring as a major component of connective tissue, giving it strength and flexibility. aortic wall collagen level aorta wall extracellular collagen level JSmith 2013-12-03T18:14:39Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the molecules, atoms and/or ions which constitute the chemical make-up of the wall of the aorta. calculated aortic wall molecular composition measurement calculated aorta wall molecular composition measurement JSmith 2013-12-03T18:21:20Z A calculated measurement in which the weight after dessication of the extracellular elastin in a specified sample of aorta wall is divided by the total weight after dessication of that sample of aorta wall, and the result presented as a ratio, fraction, quotient or percentage. aortic wall elastin dry weight to total aortic wall dry weight ratio aorta wall extracellular elastin dry weight to aorta wall dry weight ratio JSmith 2013-12-03T18:29:26Z A calculated measurement in which the weight after dessication of the extracellular elastin in a specified sample of aorta wall is divided by the weight of extracellular collagen in that sample of aorta wall, and the result presented as a ratio, fraction, quotient or percentage. aortic wall elastin dry weight to aortic wall collagen weight ratio aorta wall extracellular elastin dry weight to aorta wall extracellular collagen weight ratio JSmith 2013-12-04T10:31:25Z The total amount of protein extracted from within the cells of the aortic wall in a specified sample of aorta. Protein is any of a group of complex organic compounds containing carbon, hydrogen, oxygen, nitrogen, and sulfur consisting of alpha-amino acids joined by peptide linkages. aorta cellular protein level aorta wall total intracellular protein level aorta wall intracellular protein level JSmith 2014-01-07T16:35:21Z The difference in mean arterial blood pressure between two points in time or two conditions expressed as a percentage (the proportion or rate per hundred parts). The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. percent change in mean arterial blood pressure JSmith 2014-01-07T16:51:06Z Average slope of the line defined by the change in heart rate (the number of contractions of the cardiac ventricles per unit of time) relative to the change in mean arterial blood pressure (the average force the blood exerts on an artery wall) over time and/or in response to a change in conditions. change in heart rate to change in mean arterial blood pressure ratio JSmith 2014-01-07T16:53:44Z Maximum, largest or steepest slope of the line defined by the change in heart rate (the number of contractions of the cardiac ventricles per unit of time) relative to the change in mean arterial blood pressure (the average blood pressure within an artery over a specified period of time) over time and/or in response to a change in conditions. maximum change in heart rate to change in mean arterial blood pressure ratio JSmith 2014-01-23T17:03:36Z The amount of sterol, any of a group of steroids with a long (8 to 10 carbons) aliphatic side-chain at position 17 and at least one alcoholic group, in a specified sample of blood. blood sterol level JSmith 2014-01-23T17:04:50Z The amount of sterol, any of a group of steroids with a long (8 to 10 carbons) aliphatic side-chain at position 17 and at least one alcoholic group, in a specified sample of serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. serum sterol level JSmith 2014-01-24T15:13:32Z Any quantitation of the molecules, atoms and/or ions which constitute the chemical make-up of a specified tissue or set of tissues. tissue molecular composition measurement JSmith 2014-01-27T15:49:38Z Determination of the number of mononuclear cells, i.e. leukocytes such as lymphocytes and monocytes with a single round or oval nucleus (including but not limited to such cells found in blood, lymph or spleen) found in a specified sample. mononuclear cell number mononuclear cell count JSmith 2014-01-28T16:41:28Z A calculated measurement in which .the number of kidney glomeruli displaying an abnormal (i.e., pathogenic) crescentic morphology is divided by the number of kidney glomeruli displaying normal morphology, and the result presented as a ratio, fraction, quotient or percentage. kidney crescentic glomeruli count to kidney normal glomeruli count ratio JSmith 2014-01-31T16:39:20Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of heart rate, the number of contractions of the cardiac ventricles per unit of time. calculated heart rate measurement JSmith 2014-01-31T16:41:23Z The difference between two points in time or two conditions in heart rate expressed as the ratio of the low frequency R-R interval component of the power spectrum analysis to the high frequency R-R interval component of the power spectrum analysis, expressed as the result of the subtraction in and of itself without comparison by ratio with another quantity. absolute change in heart rate variability absolute change in ECG LF/HF ratio absolute change in EKG LF/HF ratio absolute change in electrocardiographic low frequency R-R interval to high frequency R-R interval ratio The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. absolute change in electrocardiographic low frequency R-R spectral component to high frequency R-R spectral component ratio JSmith 2014-02-03T17:42:14Z Any quantitation of the molecules, atoms and/or ions which constitute the chemical make-up of the tissue(s) of the heart left ventricle. A molecule is an aggregation of atoms, specifically a chemical combination of two or more atoms forming a specific chemical substance. heart left ventricle molecular composition measurement JSmith 2014-02-03T17:43:11Z The amount in a specified sample of tissue from the heart left ventricle, of natriuretic peptide A (NPPA), a powerful vasodilator and peptide hormone secreted mainly by heart muscle cells and involved in control of extracellular fluid volume and electrolyte homeostasis. heart left ventricle atrial natriuretic factor level heart left ventricle natriuretic peptide A protein level heart left ventricle NPPA level heart left ventricle natriuretic peptide A level JSmith 2014-02-03T17:55:31Z The amount of renin in a specified sample of kidney tissue. Renin, an aspartyl protease, catalyzes the cleavage of angiotensinogen to form angiotensin I, the first step in the activation pathway of angiotensinogen--a cascade that can result in aldosterone release,vasoconstriction, and increase in blood pressure. kidney renin protein level kidney REN level kidney renin level JSmith 2014-03-10T15:24:43Z Any quantification of the ability of a protein of the kidney to accomplish an effect, e.g. take part in a chemical reaction or carry out a specified molecular function. kidney protein activity measurement JSmith 2014-03-10T15:31:04Z Any quantification of the ability of a kidney enzyme, i.e. a protein located in the kidney that catalyzes chemical reactions of other substances without itself being destroyed or altered upon completion of the reactions, to carry out its specified molecular function. kidney enzyme activity measurement JSmith 2014-03-10T17:51:03Z A calculated measurement in which the level of catalase enzyme activity in a specified sample of kidney is divided by the weight of total protein in that sample. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen. kidney catalase activity to total protein level ratio JSmith 2014-03-10T17:52:00Z A calculated measurement in which the level of glucose-6-phosphate dehydrogenase enzyme activity in a specified sample of kidney is divided by the weight of total protein in that sample. Glucose-6-phosphate dehydrogenase catalizes the conversion of D-glucose 6-phosphate + NADP+ to 6-phospho-D-glucono-1,5-lactone + NADPH. kidney G6PD activity to total protein level ratio kidney glucose-6-phosphate dehydrogenase activity to total protein level ratio JSmith 2014-03-10T17:53:05Z A calculated measurement in which the level of glutathione reductase (GSR) enzyme activity in a specified sample of kidney is divided by the weight of total protein in that sample. GSR reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH. kidney GSR activity to total protein level ratio kidney glutathione reductase activity to total protein level ratio JSmith 2014-03-10T17:54:38Z A calculated measurement in which the level of glutathione peroxidase enzyme activity in a specified sample of kidney is divided by the weight of total protein in that sample. Glutathione peroxidases constitute a family of proteins that reduce lipid hydroperoxides to their corresponding alcohols and reduce free hydrogen peroxide to water. kidney glutathione peroxidase activity to total protein level ratio JSmith 2014-03-10T17:55:21Z A calculated measurement in which the level of glutathione-S-transferase enzyme activity in a specified sample of kidney is divided by the weight of total protein in that sample. Glutathione-S-transferase refers to any of a family of proteins with the ability to catalyze the conjugation of the reduced form of glutathione (GSH) to xenobiotic substrates for the purpose of detoxification. kidney glutathione-S-transferase activity to total protein level ratio JSmith 2014-03-10T17:55:56Z A calculated measurement in which the level of superoxide dismutase enzyme activity in a specified sample of kidney is divided by the weight of total protein in that sample. superoxide dismutases constitute a family of proteins that convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. kidney superoxide dismutase activity to total protein level ratio JSmith 2014-03-10T17:56:39Z A calculated measurement in which the level of paraoxonase 1 enzyme activity in a specified sample of kidney is divided by the weight of total protein in that sample. Paraoxonase 1 is an arylesterase that mainly hydrolyzes paroxon, an organophosphorus anticholinesterase compound, to produce p-nitrophenol. kidney paraoxonase-1 activity to total protein level ratio kidney paraoxonase1 activity to total protein level ratio JSmith 2014-03-10T17:57:32Z A calculated measurement in which the level of glutathione peroxidase enzyme activity in a specified sample of kidney is divided by the level of glutathione reductase enzyme activity in that same sample. kidney glutathione peroxidase activity to glutathione reductase activity ratio JSmith 2014-03-10T17:58:30Z A calculated measurement in which the level of superoxide dismutase enzyme activity in a specified sample of kidney is divided by the level of catalase enzyme activity in that same sample. kidney superoxide dismutase to catalase activity ratio JSmith 2014-03-10T17:59:04Z A calculated measurement in which the level of superoxide dismutase enzyme activity in a specified sample of kidney is divided by the level of glutathione peroxidase enzyme activity in that same sample. kidney superoxide dismutase to glutathione peroxidase ratio JSmith 2014-03-10T17:59:34Z A calculated measurement in which the level of superoxide dismutase enzyme activity in a specified sample of kidney is divided by the level of paraoxonase 1 enzyme activity in that same sample. kidney superoxide dismutase to paraoxonase-1 activity ratio kidney superoxide dismutase to paraoxonase1 activity ratio JSmith 2014-03-10T18:02:47Z The amount of glutathione in a specified sample of kidney tissue. Glutathione (GSH/GSSG) is an antioxidant tripeptide with a gamma peptide linkage between the amine group of cysteine (which is attached by normal peptide linkage to a glycine) and the carboxyl group of the glutamate side-chain. kidney GSH level kidney glutathione level JSmith 2014-03-10T18:03:40Z The amount of malondialdehyde in a specified sample of kidney tissue. Malondialdehyde is an organic compound with the formula CH2(CHO)2. It is a reactive species which occurs naturally, is generally found in the enol form (HOCH=CH-CHO), and is a marker for oxidative stress. kidney malondialdehyde level JSmith 2014-03-10T18:04:53Z A calculated measurement in which the level of protein carbonyl (PCO) derivatives in a specified sample of kidney is divided by the total amount of protein in the sample. Protein carbonyl (PCO) derivatives are produced by the oxidation of amino acids and can be used as a marker of oxidative stress. kidney protein carbonyl level to total protein level ratio JSmith 2014-03-10T18:06:09Z The amount of platinum, the chemical element with atomic number 78, in a specified sample of kidney tissue. kidney platinum level JSmith 2014-03-11T14:14:26Z The amount of enzymatic activity of creatine kinase (CK) enzyme in a specified sample of serum. CK catalyses the reversible transfer of phosphate between ATP and various phosphogens such as creatine phosphate. Serum CK level is used as an enzymatic marker for myocardial infarction, rhabdomyolysis and acute renal failure. serum creatine phosphokinase activity level serum CK activity level serum CPK activity level serum creatine kinase activity level JSmith 2014-03-11T16:52:38Z The amount of lipid peroxidation end products in a specified sample of kidney tissue. Lipid peroxidation is the oxidative degradation of lipids. kidney LPO level kidney lipid peroxidation level kidney lipid peroxide level JSmith 2014-03-12T15:00:11Z Measurement of the size of the three dimensional space occupied by a single kidney glomerulus. kidney glomerulus volume JSmith 2014-03-24T12:45:12Z Calculated measurement of a difference in the maximum arterial blood pressure, that is the pressure at the point of maximal contraction of the heart, between two points in time, one during the day and the other at night, expressed as a number (positive or negative), not as a ratio or percentage relative to another quantity. absolute circadian change in systolic blood pressure systolic diurnal amplitude The term "absolute change" refers to the subtraction of one value from another, as opposed to a dissimilarity of two values expressed as a ratio or as a percentage. In this context it is not intended to necessarily imply the difference expressed as an absolute value |n|, that is, the numeric value of the difference without regard to its sign. absolute diurnal change in systolic blood pressure JSmith 2014-03-24T13:34:25Z The amount of cholesterol, a eukaryotic sterol that in higher animals is the precursor of bile acids and steroid hormones and a key constituent of cell membranes, in a specified sample of blood. Cholesterol in the blood is generally associated with various lipoproteins. Not4Curation blood cholesterol level JSmith 2014-03-24T13:36:35Z The amount of cholesterol, a eukaryotic sterol that in higher animals is the precursor of bile acids and steroid hormones and a key constituent of cell membranes, in a specified sample of serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. Cholesterol in the serum is associated with various lipoproteins. Not4Curation serum cholesterol level JSmith 2014-03-28T12:01:46Z A calculated measurement in which difference in the mean arterial blood pressure between two or more dosages of a drug or chemical which reduces or increases the interior diameter of blood vessels is divided by difference the applied dosages and presented as a ratio, fraction, quotient or percentage. The value is calculated as the slope of the curve of the mean arterial blood pressure versus the chemical dose graph. beta coefficient of mean arterial blood pressure change change in MAP to change in [vasoactive chemical] ratio slope of the change in mean arterial blood pressure change in mean arterial blood pressure to change in vasoactive chemical dose ratio JSmith 2014-03-28T16:44:54Z Ratio of the wall thickness (WT) of an artery to outer diameter (OD) of that artery at that location, usually expressed as a percentage, i.e. WT/OD x 100, but could also be expressed as a ratio, fraction or quotient. This measurement can be used to assess stenosis, a pathological narrowing of a blood vessel. arterial stenosis measurement artery wall thickness as percentage of artery outer diameter artery wall thickness as percentage of artery total diameter artery wall thickness to artery total diameter ratio 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 JSmith 2014-05-13T18:19:12Z A calculated measurement in which the number of white blood cells of one or more specific types in a specified sample of blood is divided by the total number of white blood cells in the sample, and the result presented as a ratio, fraction, quotient or percentage. Not4Curation blood differential leukocyte count to total WBC count ratio blood differential leukocyte count as percentage of total white blood cells differential white blood cell percentage blood differential leukocyte count to total leukocyte count ratio JSmith 2014-05-27T13:59:17Z Any measurement which has been normalized, adjusted or derived by a mathematical process or computation, of a morphological or physiological parameter of non-neoplastic lesions in the kidney. Not4Curation calculated renal non-tumorous lesion measurement calculated kidney non-tumorous lesion measurement JSmith 2014-05-27T14:01:07Z A calculated measurement in which the area occupied by renal protein casts is divided by the total, combined area of the outer stripe of the kidney outer medulla and the kidney cortex, and the result presented as a ratio, fraction, quotient or percentage. Renal protein casts are gelled proteins precipitated in the renal tubules and molded to the tubular lumen. The medulla outer stripe is the section of the renal medula adjacent to the renal cortex and contains portions of the nephron, including the straight proximal tubules, and portions of the loops of henle and outer medullary collecting ducts. percent area of renal protein casting ratio of the area occupied by protein casts to the total area of the kidney outer medulla outer stripe and cortex JSmith 2014-05-28T15:22:49Z A calculated value in which the weight of the heart after removal from the body but without dessication is divided by the total weight of the body, and the result presented as a ratio, fraction, quotient or percentage, thus normalizing it to body weight and, by extension, to the size of the organism. heart wet weight as a percentage of body weight heart wet weight to body weight ratio JSmith 2014-06-09T17:16:49Z A calculated measurement in which the difference between the contractile force of a blood vessel in response to a vasoconstrictor and the baseline contractile force exerted by that vessel in the absence of any external stimuli, is divided by the baseline contractile force measurement and the result expressed as a percentage. A vasoconstrictor is any agent or condition that narrows blood vessels by constricting the smooth muscle in the vessel walls. vasoconstrictor-induced blood vessel contractile force expressed as percent of force at baseline JSmith 2014-06-09T17:21:51Z A calculated measurement in which the difference between the contractile force of a blood vessel in response to a specified dosage of phenylephrine and the baseline contractile force exerted by that vessel in the absence of any external stimuli, is divided by the baseline contractile force measurement and the result expressed as a percentage. Phenylephrine is an adrenergic drug that is a powerful vasoconstrictor. phenylephrine-induced blood vessel constriction expressed as percent of force at baseline phenylephrine-induced blood vessel contractile force expressed as percent of force at baseline JSmith 2014-06-09T17:30:04Z A calculated measurement in which the difference between the contractile force of a blood vessel in response to a specified dosage of potassium chloride and the baseline contractile force exerted by that vessel in the absence of any external stimuli, is divided by the baseline contractile force measurement and the result expressed as a percentage. Potassium chloride is the salt of the potassium cation (K+) and the chlorine/chloride anion (Cl-). It is used as an eletroylyte replenisher and has mild vasoconstrictive properties when applied directly to blood vessels. KCl-induced blood vessel constriction expressed as percent of force at baseline potassium chloride-induced blood vessel contractile force expressed as percent of force at baseline JSmith 2014-06-09T18:11:50Z Measurement of an organism's, organ's, tissue's or cell's capacity to respond, such as by a change in activity, state or condition, to potassium chloride, the salt of the potassium cation (K+) and the chlorine/chloride anion (Cl-). Potassium chloride is used as an eletroylyte replenisher and has mild vasoconstrictive properties when applied directly to blood vessels. KCl response/sensitivity measurement potassium chloride response/sensitivity measurement JSmith 2014-06-09T18:19:26Z A calculated value for the concentration of potassium chloride (KCl) at which the energy produced by the active reduction in the diameter of a blood vessel in response to the application of KCl is halfway between the baseline value and the highest achievable value of such KCl-induced contractile energy. Potassium chloride is the salt of the potassium cation (K+) and the chlorine/chloride anion (Cl-). It is used as an eletroylyte replenisher and has mild vasoconstrictive properties when applied directly to blood vessels. potassium chloride half maximal effective concentration (EC50) KCl half maximal effective concentration (EC50) concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (EC50) JSmith 2014-06-09T18:28:02Z A calculated value for logarithm of the concentration of potassium chloride (KCl) at which the energy produced by the active reduction in the diameter of a blood vessel in response to the application of KCl is halfway between the baseline value and the highest achievable value of such KCl-induced contractile energy. The logarithm of the concentration is the exponent indicating the power to which 10 must be raised to obtain that concentration value. potassium chloride Log half maximal effective concentration (Log EC50) KCl Log half maximal effective concentration (Log EC50) logarithm of the concentration of potassium chloride at which the force of blood vessel contraction is half the maximum value (Log EC50) JSmith 2014-06-09T18:33:14Z A calculated value for the concentration of a vasoconstrictor at which the energy produced by the active reduction in the diameter of a blood vessel in response to the application of the stimulus is halfway between the baseline value and the highest achievable value of such stimulus-induced contractile energy. A vasoconstrictor is any agent or condition that narrows blood vessels by constricting the smooth muscle in the vessel walls. vasoconstrictor half maximal effective concentration (EC50) concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (EC50) JSmith 2014-06-09T18:47:36Z A calculated value for logarithm of the concentration of a vasoconstrictor at which the energy produced by the active reduction in the diameter of a blood vessel in response to the application of the stimulus is halfway between the baseline value and the highest achievable value of such stimulus-induced contractile energy. The logarithm of the concentration is the exponent indicating the power to which 10 must be raised to obtain that concentration value. A vasoconstrictor is any agent or condition that narrows blood vessels by constricting the smooth muscle in the vessel walls. vasoconstrictor Log half maximal effective concentration (Log EC50) logarithm of the concentration of vasoconstrictor at which the force of blood vessel contraction is half the maximum value (Log EC50) JSmith 2014-06-24T10:28:27Z The thickness or depth of the ventral/anterior wall of the left ventricle of the heart at the end of diastole, that is, when the heart muscle is maximally relaxed. The ventral/anterior wall is the portion of the muscle enclosing the ventricle which is farthest from the spine and closest to the chest wall of the organism. heart left ventricle end-diastolic ventral wall thickness LVAWd heart left ventricle end-diastolic anterior wall thickness JSmith 2014-06-24T10:38:32Z A calculated measurement in which the weight of the left ventricle of the heart is divided by its area at end-diastole, that is, when the heart muscle is maximally relaxed, and the result presented as a ratio, fraction, quotient or percentage. heart left ventricle weight to heart left ventricle end-diastolic area ratio JSmith 2014-07-01T11:15:11Z Any measurement of the movement of blood into, through or out of the heart. heart blood flow measurement JSmith 2014-07-01T11:21:13Z Measurement of the speed at which blood flows into the ventricle during passive filling, that is, during the period when the blood flows from the atrium to the ventricle due to gravity rather than as a result of active contraction of the atrium. E wave velocity JSmith 2014-07-01T11:23:06Z An echocardiographic measurement of the amount of time between the maximum 'E point', that is, the maximum velocity of passive blood flow from the atrium to the ventricle, and the return to baseline at the end of early mitral flow. DT EDT E wave deceleration time JSmith 2014-07-01T11:26:09Z Measurement of the decrease in transmitral blood flow velocity per unit time or the rate at which the velocity of passive blood flow from the atrium to the ventricle decreases over time as the ventricle fills and the atrium empties, calculated as the slope of transmitral velocity vs time. EDR E wave deceleration rate JSMITH 2014-08-05T16:41:32Z Any measurement of the physical form or structure of a muscle fiber, any of the cells of skeletal or cardiac muscle tissue. Each cell is one fiber of the muscle. muscle fiber morphological measurement JSMITH 2014-08-05T16:42:27Z Any measurementof the physical form or structure of a skeletal muscle fiber, a cylindrical multinucleate cell of skeletal muscle tissue containing contracting myofibrils and across which run transverse striations. skeletal muscle fiber morphological measurement JSMITH 2014-08-05T16:43:25Z The average number of capillaries associated with and/or surrounding an individual skeletal muscle fiber, a cylindrical multinucleate cell of skeletal muscle tissue containing contracting myofibrils and across which run transverse striations. Capillaries are the minute vessels connecting arterioles and venules, the walls of which act as a semipermeable membrane for interchange of various substances between the blood and tissue fluid. number of capillaries per skeletal muscle cell number of capillaries per skeletal muscle fiber JSMITH 2014-08-05T16:46:26Z Any measurement, morphological or physiological of the minute vessels connecting arterioles and venules, the walls of which act as a semipermeable membrane for interchange of various substances between the blood and tissue fluid. capillary measurement JSMITH 2014-08-06T10:31:27Z The length of time in the cardiac cycle between the end of left ventricular relaxation and the start of left ventricular filling. This represents the time in the cardiac cycle between closure of the aortic valve and opening of the mitral valve. time constant of isovolumetric LV fall LV-IVRT left ventricular isovolumetric relaxation time JSMITH 2014-08-06T10:46:35Z The time interval from the completion of the mitral valve closure to the beginning of the aortic valve opening, that is, the period of contraction during which both the mitral and aortic valves are closed so that the volume of the ventricular space doesn't change. left ventricular isovolumetric contraction time JSMITH 2014-08-18T11:44:51Z The length of time in the cardiac cycle between the end of right ventricular relaxation and the start of right ventricular filling. RV-IVRT right ventricular isovolumetric relaxation time JSMITH 2014-08-18T11:59:50Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the length of time in the cardiac cycle between the end of left ventricular relaxation and the start of left ventricular filling. calculated LV-IVRT calculated left ventricular isovolumetric relaxation time JSMITH 2014-08-18T12:04:19Z A calculated measurement in which the value of the left ventricular isovolumetric relaxation time is corrected by the square root of the R-R interval [IVRT/(RR)1/2] on a simultaneously-recorded ECG. heart rate-corrected left ventricular isovolumetric relaxation time JSMITH 2014-08-18T12:19:05Z Measurement of the length of time between the closing of the mitral valve (the dual-flap valve in the heart that controls blood flow between the left atrium and the left ventricle) at the end of ventricular filling (that is, after atrial contraction) and its opening at the beginning of the next round of ventricular filling. MV co mitral valve closure to opening time JSMITH 2014-08-18T13:27:39Z The time interval from the opening to the closing of the aortic valve (mechanical systole). LVET left ventricular ejection time JSMITH 2014-08-18T13:54:20Z A calculated measurement comprised of the sum of left ventricular isovolumetric contraction time and isovolumetric relaxation time divided by the left ventricular ejection time. MPI TEI-Doppler index myocardial performance index JSMITH 2014-08-18T14:05:03Z Any measurement of the degree to which the presentation of any cardiovascular disease state, causes pain or damage, or interferes with the normal functioning of an organism or of any part thereof. cardiovascular disease severity measurement JSMITH 2014-08-18T14:20:49Z Any measurement related to a deviation from or interruption of the normal structure or function of the cardiovascular system that is manifested by a characteristic set of symptoms and signs. cardiovascular disease measurement JSMITH 2014-08-18T14:23:23Z Any measurement of the degree to which the presentation of an arterial disease state, causes pain or damage, or interferes with the normal functioning of an organism or of any part thereof. Arterial disease is a deviation from or interruption of the normal structure or function of one or more arteries, the vessels in which blood flows away from the heart carrying oxygenated blood, that is manifested by a characteristic set of symptoms and signs. arterial disease severity measurement JSMITH 2014-08-18T15:16:50Z Measurement of the degree to which a tear or break in the continuity or configuration of the aorta (the great artery arising from the left ventricle and from which the systemic arterial system proceeds) causes pain or damage, or interferes with the normal functioning of an organism or of any part thereof. aortic rupture severity measurement JSMITH 2014-08-18T15:33:42Z The value or quantity determined by count of tears or breaks in the continuity or configuration of the fenestrated layer of elastic tissue that is the outermost part of the intima of an artery. number of ruptures of internal elastic lamina in arteries number of ruptures of internal elastic laminae in arteries number of RIEL in arteries number of ruptures of arterial IEL number of ruptures of arterial internal elastic lamina JSMITH 2014-08-18T15:35:18Z The value or quantity determined by count of tears or breaks in the continuity or configuration of the internal elastic lamina (IEL) of the abdominal aorta and iliac arteries, that is, the distal segment of the descending aorta and the large arteries that originate from it. number of AA- and IA-RIEL number of RIEL in abdominal aorta and iliac arteries number of ruptures of the internal elastic lamina of the abdominal aorta and iliac arteries JSMITH 2014-08-18T15:47:20Z The value or quantity determined by count of tears or breaks in the continuity or configuration of the internal elastic lamina (IEL) of the renal arteries, that is, the ateries which arise from the side of the abdominal aorta and which supply the kidneys with blood. number of RIEL in renal arteries number of ruptures of the internal elastic lamina of the renal arteries JSMITH 2014-08-18T15:50:34Z A measurement of the severity of tears or breaks in the arterial internal elastic lamina (IEL) which is derived from a combination of multiple measurements and/or objective or subjective severity scores according to a specified formula or set of criteria. The IEL is the fenestrated layer of elastic tissue that is the outermost part of the intima of an artery. arterial RIEL score arterial internal elastic lamina rupture composite score JSMITH 2014-08-18T18:42:12Z A calculated measurement in which the weight after dessication of the extracellular elastin in a specified sample of the wall of the aorta is divided by the length (that is, the distance between the two ends) of that segment, and the result presented as a ratio, fraction, quotient or percentage. aorta wall extracellular elastin dry weight to aorta length ratio JSMITH 2014-08-18T18:54:19Z A measurement of the existance and severity of a patent ductus arteriosus (PDA) when such a measurement is derived from a combination of multiple measurements and/or an objective or subjective ranking or rating system according to a specified formula or set of criteria. PDA is the abnormal persistence of an open lumen in the ductus arteriosus, between the aorta and the pulmonary artery, after birth. PDA score score for PDA patent ductus arteriosus score JSmith 2014-08-26T13:32:08Z Any measurement involving the composition, that is, the absolute amount, relative amount or type of one or more proteins (complex high molecular weight organic compounds containing carbon, hydrogen, oxygen, nitrogen, and sulfur consisting of alpha-amino acids joined by peptide linkages) or peptides (low molecular weight compounds composed of at least two amino acids joined by peptide linkages) in a specified tissue or set of tissues. tissue protein/peptide composition measurement JSmith 2014-08-26T13:35:55Z Any measurement involving the composition, that is, the absolute amount, relative amount or type of one or more proteins or peptides in a specified sample of tissue from the wall of the aorta. aortic wall protein/peptide composition measurement aorta wall protein/peptide composition measurement JSmith 2014-09-11T17:13:44Z A calculated parameter derived from a a sequence of blood pressure measurements taken sequentially and ordered in time. A parameter is a mathematical and statistical variable in a model system that partially or completely characterises the mathematical model. blood pressure time series calculated parameter JSmith 2014-09-11T18:09:25Z A mathematical and statistical variable in a model system that partially or completely characterises the baroreceptor response in a blood pressure time series calculation. The baroreceptor response is the system whereby specific nerve terminals that stabilize moment to moment blood pressure variability in the carotid sinus and aortic arch sense deviations from the baseline pressure and initiate signals that dampens such deviations. blood pressure time series baroreceptor response calculation parameter JSmith 2014-09-11T18:10:33Z The first order coefficient parameter derived from a blood pressure time series moving average (also known as a rolling average, running average, moving mean, or rolling mean) calculation. blood pressure time series first order moving average coefficient JSmith 2014-09-11T18:24:22Z The fractal parameter derived from a blood pressure time series calculation based on a autoregressive fractionally integrated moving average time series model (ARFIMA, FARIMA, or fARIMA). blood pressure time series fractal parameter JSmith 2014-09-11T18:26:20Z The experimental set point parameter of the blood pressure time series baroreceptor response calculation. blood pressure time series experimental set point of the baroreceptor response JSmith 2014-09-11T18:28:14Z The average exponential scaling factor parameter of the blood pressure time series baroreceptor response calculation. blood pressure time series average exponential scaling factor of the baroreceptor response JSmith 2014-09-11T18:33:18Z A parameter based on a blood pressure time series calculation using a first order mechanistic model. blood pressure time series linear term first order parameter JSmith 2014-09-11T18:33:53Z A parameter based on a blood pressure time series calculation using a second order mechanistic model. blood pressure time series linear term second order parameter JSmith 2014-10-29T10:36:08Z The thickness or depth (i.e. the measurement of the two-dimensional extent of the distance between the inner and outer surfaces) of the dorsal/posterior wall of the left ventricle of the heart at the end of diastole, that is, when the heart muscle is maximally relaxed. The dorsal wall is the portion of the muscle enclosing the ventricle which is closest to the spine and farthest from the chest wall of the organism. end-diastolic heart left ventricle posterior wall thickness end-diastolic heart left ventricle PWT Note that "left" in this context refers to the perspective of the organism, not that of the observer. heart left ventricle end-diastolic posterior wall thickness jesmith 2015-12-03T15:18:18Z A value resulting from the quantification of a morphological or physiological parameter of a blood-derived lipoprotein, any of a class of complex molecules found in blood that consist of a protein membrane surrounding a core of lipids. blood lipoprotein measurement jesmith 2015-12-03T15:41:10Z Measurement of the amount of cholesterol, a eukaryotic sterol that in higher animals is the precursor of bile acids and steroid hormones and a key constituent of cell membranes, carried in lipoprotein molecules in a specified volume of blood. Lipoprotein particles are complex molecules that consist of a protein membrane surrounding a core of lipids. blood lipoprotein cholesterol level jesmith 2017-02-22T13:08:55Z The distance between the two ends, that is, of the extent of the longest dimension, of the aorta, the main trunk from which the arterial system proceeds. aorta length jesmith 2017-02-22T13:12:37Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation of the physical form or structure of the aorta, the main trunk from which the arterial system proceeds. calculated aorta morphological measurement jesmith 2017-02-22T13:14:54Z A calculated measurement in which the weight of the aorta is divided by its length and the resulting quantity is divided by the total body weight of the organism. Am/AI/Bm aorta mass to aorta length to body mass ratio aorta weight to aorta length to body weight ratio jesmith 2017-02-22T13:28:13Z A calculated measurement of the relative difference in pulse pressure between a treated state and a control state or between two points in time, expressed as a percentage. percent change in pulse pressure jesmith 2017-07-19T12:56:36Z Any quantification of the ability of a protein of the heart to accomplish an effect, e.g. take part in a chemical reaction or carry out a specified molecular function. heart protein activity measurement jesmith 2017-07-19T13:02:57Z Any quantification of the ability of a heart enzyme, i.e. a protein located in the heart that catalyzes chemical reactions of other substances without itself being destroyed or altered upon completion of the reactions, to carry out its specified molecular function. heart enzyme activity level jesmith 2017-07-19T13:04:34Z Quantitation of the catalytic effect exerted by angiotensin I converting enzyme 2 (ACE2) in a specified sample of heart tissue. ACE2, an ACE homolog, is a zinc-dependent peptidase of the M2-metalloprotease family that is sensitive to chloride ion concentration, is a membrane-bound enzyme that acts as a monocarboxypeptidase, and is an essential regulator of heart function. heart ACE2 activity level heart angiotensin II converting enzyme activity level heart angiotensin I converting enzyme 2 activity level jesmith 2017-07-19T13:05:42Z Quantitation of the catalytic effect exerted by angiotensin I converting enzyme (ACE) in a specified sample of heart tissue. ACE is one of the enzymes of the renin-angiotensin system, and catalyzes the conversion of angiotensin I into a physiologically active vasoconstrictor peptide angiotensin II. heart ACE activity level heart angiotensin I converting enzyme activity level jesmith 2017-07-20T10:00:38Z Quantitation of the catalytic effect exerted by angiotensin converting enzyme2 (ACE2) in a specified sample of kidney. ACE2, an ACE homolog, is a zinc-dependent peptidase of the M2-metalloprotease family that is sensitive to chloride ion concentration, and is a membrane-bound enzyme that acts as a monocarboxypeptidase and is an essential regulator of heart function. kidney ACE2 activity level kidney angiotensin II converting enzyme activity level kidney angiotensin I converting enzyme 2 activity level jesmith 2017-07-20T10:01:18Z Quantitation of the catalytic effect exerted by angiotensin I converting enzyme (ACE) in a specified sample of kidney tissue. ACE is one of the enzymes of the renin-angiotensin system, and catalyzes the conversion of angiotensin I into a physiologically active vasoconstrictor peptide angiotensin II. kidney ACE activity level kidney angiotensin I converting enzyme activity level jesmith 2017-07-20T13:40:53Z Any measurement of the physical form or structure of a cardiac muscle fiber, a striated cardiac muscle cell (cardiomyocyte) that is responsible for heart contraction. cardiac muscle cell morphological measurement cardiac myocyte morphological measurement cardiomyocyte morphological measurement heart muscle cell morphological measurement cardiocyte morphological measurement cardiac muscle fiber morphological measurement jesmith 2017-07-20T13:43:26Z The length of a straight line passing through a cardiac muscle fiber, that is a cardiomyocyte, for instance through the center of its nucleus, and connecting opposite points on its periphery. cardiac myocyte diameter cardiomyocyte diameter heart muscle cell diameter cardiocyte diameter cardiomyocyte width cardiac muscle fiber diameter jrsmith 2018-05-03T09:34:26Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the amount of plasma that perfuses the kidneys per unit time per amount of body weight. renal plasma flow to body weight ratio jrsmith 2018-05-03T17:41:50Z A calculated measurement in which glomerular filtration rate, an estimate of the volume of fluid filtered from the kidney glomerular capillaries into the Bowman's capsule per specified unit of time, is divided by the total weight of the body and the result is presented as a ratio, fraction, quotient or percentage. glomerular filtration rate to body weight ratio jrsmith 2018-05-11T12:56:54Z A calculated value in which the volume of glomeruli with lesions resulting from fibrosis, scarring or hyaline deposits is divided by the total volume of glomeruli in a specified sample of kidney and presented as a ratio, fraction or quotient, thus normalizing it to the total volume of glomeruli. kidney sclerotic glomerular volume to total kidney glomerular volume ratio jrsmith 2018-05-15T16:59:53Z A calculated value in which the weight of the heart left ventricle is divided by the length of the tibia (the medial and larger of the two bones of the lower leg of bipeds or hindlimb of quadrupeds which articulates with the femur, fibula, and talus), and the result is presented as a ratio, fraction, quotient or percentage,thus normalizing it to the length of the leg and, by extension, to the size of the body. LV weight/tibial length heart left ventricle weight to tibia length ratio jrsmith 2018-05-15T17:02:51Z Any measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the movement of blood into, through or out of the heart. calculated heart blood flow measurement jrsmith 2018-05-15T17:05:23Z A calculated measurement in which the value of the E wave (that is, the velocity of the blood flow across the mitral valve during passive filling of the left ventricle in early diastole) is divided by the value of the A wave (that is, the velocity of the blood flow across the mitral valve during active filling of the left ventricle caused by atrial contraction in late diastole). mitral E/A wave ratio E/A wave ratio jrsmith 2018-05-15T17:08:42Z A calculated measurement in which the average width of the tunica media is divided by the inner diameter (that is, the diameter of the lumen) of the artery and the result is presented as a ratio, fraction, quotient or percentage. artery tunica media width to artery inner diameter ratio jrsmith 2018-05-15T17:12:15Z The thickness, width or depth of the septal wall of the heart ventricles (that is, the portion of the wall between the left and right ventricles that is shared between the two) at the end of diastole when the heart muscle is maximally relaxed. heart intraventricular septum end-diastolic thickness IVSd heart intraventricular end-diastolic wall thickness jrsmith 2018-05-15T17:13:43Z The thickness, width or depth of the septal wall of the heart ventricles (that is, the portion of the wall between the left and right ventricles that is shared between the two) at the end of systole when the heart muscle is maximally contracted. heart intraventricular septum end-systolic thickness IVSs heart intraventricular end-systolic wall thickness sjwang 2018-11-13T15:00:11Z A variability measurement in which the mean is calculated from the standard deviations or the standard deviation is calculated from the means of sequential one hour systolic blood pressure measurements. systolic blood pressure variability sjwang 2018-11-13T15:02:20Z A variability measurement in which the mean is calculated from the standard deviations or the standard deviation is calculated from the means of sequential one hour diastolic blood pressure measurements. diastolic blood pressure variability sjwang 2018-11-13T15:04:28Z A variability measurement in which the mean is calculated from the standard deviations or the standard deviation is calculated from the means of sequential one hour mean arterial blood pressure measurements. mean arterial blood pressure variability sjwang 2018-11-13T15:12:25Z A variability measurement in which the mean is calculated from the standard deviations or the standard deviation is calculated from the means of sequential one hour heart rate measurements. heart rate variability sjwang 2018-11-14T10:49:02Z A calculated value in which the number of glomeruli with microaneurysm (focal dilation of arteriocapillary junctions), is divided by the total number of glomeruli in the kidney and presented as a ratio, fraction or quotient, thus normalizing it to the total number of glomeruli. ratio of number of glomeruli with microaneurysms to number of total glomeruli sjwang 2018-11-14T11:16:40Z A calculated value in which the area of glomeruli with activated mesangial cells (determined by the expression of &#945;-smooth muscle actin), is divided by the total area of glomeruli counted in the kidney and presented as a ratio, fraction or quotient, thus normalizing it to the total number of glomeruli. ratio of glomerular area occupied by activated mesangial cells to total glomerular area sjwang 2018-11-14T11:19:47Z Any measurement that has been normalized, adjusted or derived by a mathematical process or computation, of the glomeruli of one or both kidneys, the paired organ which functions to maintain proper water and electrolyte balance, regulate acid-base concentration, and filter the blood of metabolic wastes. calculated kidney glomerulus morphological measurement calculated kidney glomerulus measurement sjwang 2018-11-19T15:28:14Z Any measurement of the physical form or structure of one or more of the mesenteric arteries, which arise from the anterior surface of the abdominal aorta, just inferior to the origin of the celiac trunk, and supplies blood to the intestine from the lower part of the duodenum through two-thirds of the transverse colon, as well as the pancreas. mesenteric artery morphological measurement sjwang 2018-11-19T15:30:34Z Any quantitation of the molecules, atoms and/or ions which constitute the chemical make-up of the wall of one or more of the mesenteric arteries. mesenteric artery molecular composition measurement sjwang 2018-11-19T15:33:20Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation of the physical form or structure of any of the mesenteric arteries. calculated mesenteric artery wall molecular composition measurement calculated mesenteric artery molecular composition measurement sjwang 2018-11-19T15:35:54Z A calculated measurement in which mesenteric artery phosphorylated eNOS protein level is divided by aorta wall total eNOS protein level and presented as a ratio, fraction, quotient or percentage. Phosphorylation of eNOS is a mechanism that catylzes a structural change of the enzyme to an activated form. mesenteric artery phosphylated eNOS protein level to total eNOS protein level ratio mesenteric artery wall phosphylated eNOS level to total eNOS level ratio mesenteric artery phosphylated eNOS level to total eNOS level ratio sjwang 2018-11-19T15:53:29Z A calculated measurement in which aorta wall phosphorylated eNOS protein level is divided by aorta wall total eNOS protein level and presented as a ratio, fraction, quotient or percentage. Phosphorylation of eNOS is a mechanism that catylzes a structural change of the enzyme to an activated form. aorta wall phosphylated eNOS protein level to total eNOS protein level ratio aorta wall phosphylated eNOS level to total eNOS level ratio sjwang 2018-11-26T13:03:49Z Monophasic action potentials (MAPs) are recorded using contact electrode catheters. The recordings provide local information about the actual cellular depolarization and repolarization process of myocardial tissue. They are different from body surface electrocardiographic (ECG) recordings or standard endocardial electrograms, which produce a summative or derivative view of the heart's electrical activity Monophasic action potential sjwang 2018-11-26T13:39:11Z Conduction velocity is calculated as the distance from pacing electrode to the monophasic action potential recording electrode across the epicardial surface, divided by the conduction time, the time from the pacing spike to monophasic action potential onset. Conduction velocity sjwang 2018-11-26T14:10:18Z The E/E' is a ratio of peak velocity of early diastolic trans-mitral flow (E) to the peak velocity of early diastolic mitral annular motion (E') E wave velocity to E' wave velocity ratio E/E' wave ratio sjwang 2018-11-26T14:27:05Z Any quantitation of the molecules, atoms and/or ions which constitute the chemical make-up of the tissue(s) of the heart. cardiac molecular composition measurement heart molecular composition measurement sjwang 2018-11-26T14:31:33Z Measurement of the amount of free fatty acids within the heart. cardiac free fatty acid level cardiac non-esterified fatty acid level heart NEFA level heart non-esterified fatty acid level heart free fatty acid level sjwang 2018-11-26T14:35:50Z Measurement of the amount of triglycerides within the heart. cardiac triglyceride level heart triglyceride level sjwang 2018-11-26T14:44:30Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the end-systolic heart left ventricle posterior wall thickness. calculated heart left ventricle end-systolic posterior wall thickness sjwang 2018-11-26T14:50:07Z A calculated measurement in which the heart left ventricle end-systolic posterior wall thickness is divided by the weight of the body, and the result presented as a ratio, fraction, quotient or percentage. heart left ventricle end-systolic posterior wall index sjwang 2018-11-26T14:59:27Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the heart left ventricle end-systolic internal diameter. calculated heart left ventricle end-systolic internal dimension calculated heart left ventricle end-systolic internal diameter sjwang 2018-11-26T15:03:09Z A calculated measurement in which the heart left ventricle end-systolic internal diameter is divided by the weight of the body, and the result presented as a ratio, fraction, quotient or percentage. heart left ventricle end-systolic internal dimension index heart left ventricle end-systolic internal diameter index sjwang 2018-11-26T15:08:05Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the heart ventricle end-systolic septal wall thickness. calculated heart end-systolic intraventricular wall thickness calculated heart ventricle end-systolic septal wall thickness sjwang 2018-11-26T15:11:20Z A calculated measurement in which the heart ventricle end-systolic septal wall thickness is divided by the weight of the body, and the result presented as a ratio, fraction, quotient or percentage. heart ventricle end-systolic septal wall index sjwang 2018-11-26T15:13:54Z Peak velocity of late atrial diastolic trans-mitral flow (A). A wave velocity sjwang 2018-11-26T15:20:51Z E' wave velocity is the peak velocity of early mitral annular diastolic motion. e' wave velocity E' wave velocity sjwang 2018-11-26T15:23:27Z A' wave velocity (A') is the peak velocity of late (atrial) diastolic mitral annular motion. a' wave velocity A' wave velocity sjwang 2018-11-27T15:03:00Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of cardiac output. calculated cardiac output measurement sjwang 2018-11-27T15:09:41Z A calculated measurement in which the cardiac output is divided by the weight of the body, and the result presented as a ratio, fraction, quotient or percentage. cardiac index sjwang 2018-11-27T15:14:24Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of cardiac stroke volume. calculated stroke volume sjwang 2018-11-27T15:16:25Z A calculated measurement in which the cardiac stroke volume is divided by the weight of the body, and the result presented as a ratio, fraction, quotient or percentage. stroke index sjwang 2018-11-27T15:20:50Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the left ventricular end-systolic blood pressure. calculated left ventricular end-systolic blood pressure sjwang 2018-11-27T15:23:57Z Effective arterial elastance (Ea), defined as the ratio of left ventricular (LV) end-systolic pressure and stroke volume, lumps the steady and pulsatile components of the arterial load in a concise way. arterial elastance sjwang 2018-11-27T15:29:19Z Defined as the work performed by the left or right ventricle to eject the stroke volume into the aorta or pulmonary artery, respectively. ventricle stroke work sjwang 2018-11-27T15:32:24Z Defined as the work performed by the left ventricle to eject the stroke volume into the aorta. left ventricle stroke work sjwang 2018-11-27T15:34:52Z Preload recruitable stroke work (PRSW) is determined by the linear regression of stroke work with the end-diastolic volume. The slope of the PRSW relationship is a highly linear index of myocardial contractility that is insensitive to preload and afterload. preload recruitable left ventricle stroke work sjwang 2018-11-27T15:38:49Z A calculated measurement in which the maximum rate of positive change in left ventricular blood pressure is divided by the left ventricular end-diastolic volume, and the result presented as a ratio, fraction, quotient or percentage. maximum rate of positive change in left ventricular blood pressure to left ventricular end-diastolic volume ratio sjwang 2018-11-27T15:46:13Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the end-diastolic heart left ventricle posterior wall thickness. calculated heart left ventricle end-diastolic posterior wall thickness sjwang 2018-11-27T15:56:21Z A calculated measurement in which the heart left ventricle end-diastolic posterior wall thickness is divided by the weight of the body, and the result presented as a ratio, fraction, quotient or percentage. heart left ventricle end-diastolic posterior wall index sjwang 2018-11-27T15:58:19Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the heart left ventricle end-diastolic anterior wall thickness. calculated heart left ventricle end-diastolic anterior wall thickness sjwang 2018-11-27T16:14:56Z A calculated measurement in which the heart left ventricle end-diastolic anterior wall thickness is divided by the weight of the body, and the result presented as a ratio, fraction, quotient or percentage. heart left ventricle end-diastolic anterior wall index sjwang 2018-11-27T16:18:07Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the heart ventricle end-diastolic septal wall thickness. calculated heart ventricle end-diastolic septal wall thickness sjwang 2018-11-27T16:19:43Z A calculated measurement in which the heart ventricle end-diastolic septal wall thickness is divided by the weight of the body, and the result presented as a ratio, fraction, quotient or percentage. heart ventricle end-diastolic septal wall index sjwang 2018-11-30T15:55:22Z Renal medullary blood flow (MBF) is the volume of blood delivered to or exiting from the renal medulla per unit time. renal medullary blood flow rate sjwang 2018-12-03T16:21:42Z Left ventricle end-diastolic elastance (Eed) is the estimate of the slope of the line Ped=Eed(Ved-V0), which is based on linear regression of points determined by iterative calculation of the LV end-diastolic pressure–volume relationship. heart left ventricle end-diastolic elastance sjwang 2018-12-03T16:24:05Z Left ventricle end-systolic elastance (Ees) is the estimate of the slope of the line Pes=Ees(Ves-V0), which is based on linear regression of points determined by iterative calculation of the LV end-systolic pressure–volume relationship. heart left ventricle end-systolic elastance sjwang 2018-12-04T12:06:42Z A measurement which has been normalized, adjusted or derived by a mathematical process or computation, of components of the periodic tightening and loosening of the muscles of a ventricle of the heart. calculated ventricle contraction measurement sjwang 2018-12-04T12:31:25Z Left ventricle diastolic volume-axis intercept (V0) is determined by the line Ped=Eed(Ved-V0), which is based on linear regression of points determined by interative calculation of the LV end-diastolic pressure–volume relationship. Heart left ventricle diastolic volume-axis intercept (V0) sjwang 2018-12-04T12:34:18Z Left ventricle systolic volume-axis intercept (V0) is determined by the line Pes=Ees(Ves-V0), which is based on linear regression of points determined by iterative calculation of the LV end-diastolic pressure–volume relationship. Heart left ventricle systolic volume-axis intercept (V0) sjwang 2018-12-04T12:46:20Z A measurement of the volume of blood in ventricle immediately before a contraction which has been normalized or adjusted by a mathematical process or computation. . Calculated endo-diastolic volume sjwang 2018-12-04T12:59:56Z A measurement of the volume of blood in a ventricle at the end of a contraction which has been normalized or adjusted by a mathematical process or computation. Calculated endo-systolic volume sjwang 2018-12-05T13:54:43Z The amount of adrenomedullin in a specified sample of kidney tissue. kidney adrenomedullin level sjwang 2018-12-05T13:57:39Z The amount of adrenomedullin in a specified sample of medullary kidney tissue. kidney medullary adrenomedullin level sjwang 2018-12-05T13:59:17Z The amount of adrenomedullin in a specified sample of cortical kidney tissue. kidney cortical adrenomedullin level sjwang 2018-12-07T10:37:27Z Any measurement which has been normalized, adjusted or derived by a mathematical process or computation, of the volume of fluid filtered from the kidney glomerular capillaries into the Bowman's capsule per specified unit of time based on serum creatinine level, wieght and age of organism and other factors. calculated glomerular filtration rate sjwang 2018-12-07T11:57:13Z Any quantification of a morphological or physiological parameter of one or more nucleic acids in the heart. Nucleic acids are high-molecular-weight polymeric compounds composed of nucleotides, each consisting of a purine or pyrimidine base, a ribose or deoxyribose sugar, and a phosphate group, and are involved in the determination and transmission of genetic characteristics. heart nucleic acid measurement sjwang 2018-12-07T12:02:20Z Any measurement of the absolute or relative amount(s) of one or more of the ribonucleic acids (RNAs) of which the heart is formed or composed. heart ribonucleic acid composition measurement sjwang 2018-12-07T12:04:28Z heart Igf1 mRNA level heart insulin-like growth factor 1 mRNA level sjwang 2018-12-07T12:09:49Z Any measurement of the absolute or relative amount(s) of one or more of the ribonucleic acids (RNAs) of which the heart left ventricle is formed or composed. heart left ventricle ribonucleic acid content sjwang 2018-12-07T12:23:27Z heart right ventricle insulin-like growth factor 1 mRNA level sjwang 2018-12-07T12:28:34Z The amount of ribonucleic acid (DNA), the molecule composed of the sugar ribose, phosphate groups and any combination of the bases adenine, guanine, cytosine, and/or uracil , extracted from or contained in the heart right ventricle, the lower chamber of the right side of the heart (from the perspective of the organism rather than the observer), which pumps venous blood through the pulmonary trunk and arteries to the capillaries of the lung. heart right ventricle ribonucleic acid content sjwang 2018-12-07T12:30:31Z heart right ventricle molecular composition measurement sjwang 2018-12-07T12:35:54Z heart left ventricle Igf1r mRNA level heart left ventricle insulin-like growth factor 1 mRNA level sjwang 2018-12-07T12:44:11Z heart Igf1r mRNA level heart insulin-like growth factor 1 receptor mRNA level sjwang 2018-12-07T12:46:44Z heart right ventricle insulin-like growth factor 1 receptor mRNA level sjwang 2018-12-07T12:49:23Z heart left ventricle insulin-like growth factor 1 receptor mRNA level sjwang 2018-12-07T14:45:56Z Filtration fraction is the ratio of the glomerular filtration rate (GFR) to the renal plasma flow (RPF). Filtration Fraction, FF = GFR/RPF. The filtration fraction, therefore, represents the proportion of the fluid reaching the kidneys which passes into the renal tubules. FF filtration fraction renal filtration fraction sjwang 2018-12-07T14:51:40Z glomerular filtration rate to kidney weight ratio sjwang 2018-12-07T14:54:49Z A calculated measurement to determine the volume of fluid filtered from the renal (kidney) glomerular capillaries of a single nephron into Bowman's capsule per unit time. SNGFR single nephron glomerular filtration rate sjwang 2018-12-07T14:57:04Z A calculated measurement to determine the ratio of the single nephron glomerular filtration rate (SNGFR) to the renal plasma flow (RPF). Single nephron filtration Fraction, SNFF = SNGFR/RPF. The single nephron filtration fraction, therefore, represents the proportion of the fluid reaching the kidneys which passes into the renal tubules from a single nephron. SNFF single nephron filtration fraction sjwang 2018-12-07T15:14:18Z calculated kidney morphological measurement sjwang 2018-12-07T15:16:47Z ""A semiquantitative evaluation of the renal interstitium using a grading system with a score of 0 to 4+, which assesses the tubules and the interstitium for the presence of (1) tubular atrophy, (2) tubular dilatation, (3) interstitial inflammatory cell infiltrates, and (4) interstitial fibrosis. A score of 0 indicates no lesion (normal kidney), 1+ indicates a single, small focal lesion with very minimal tubular alterations and interstitial inflammatory cell infiltration, and 2+ to 4+ indicated increasing severity of tubular lesions, interstitial inflammatory cell infiltration, and/or fibrosis. A score of 4+ indicates involvement of approximately 50% or more of the renal parenchyma or interstitium." [PMID:PMID\:9369281] kidney tubulointerstitial score renal tubulointerstitial score sjwang 2018-12-20T14:50:34Z A calculated value in which the weight of the left atrium, the upper chamber on the left side of the heart which empties into the lower left chamber, is divided by the total weight of the body and the result presented as a ratio, fraction, quotient or percentage, thus normalizing it to body weight. heart left atrium weight to body weight ratio sjwang 2018-12-20T14:57:33Z A measurement of the physical form or structure of the right atrium, the right upper chamber of the heart that receives blood from the vena cava and forces it into the right ventricle, which has been normalized, adjusted or derived by a mathematical process or computation. calculated heart right atrium morphological measurement sjwang 2018-12-20T14:59:58Z A calculated value in which the weight of the right atrium, the upper chamber on the right side of the heart which empties into the lower right left chamber, is divided by the total weight of the body and the result presented as a ratio, fraction, quotient or percentage, thus normalizing it to body weight. heart right atrium weight to body weight ratio sjwang 2018-12-20T15:02:38Z The weight of the septum of the heart, which is the portion of the heart left ventricle ventral/anterior wall and right ventricle dorsal/posterior wall which is shared between the ventricles, after removal from the body and separation from the rest of the heart. Heart septum weight sjwang 2018-12-20T15:09:32Z The average number of podocytes in the kidney glomeruli. number of podocytes per kidney glomerulus sjwang 2018-12-20T15:13:54Z A calculated measurement in which the average number of podocytes is divided by the average volume of kidney glomeruli. number of podocytes to glomerular volume ratio sjwang 2018-12-26T16:17:20Z The average number of nucleated cells in the kidney glomeruli. number of nucleated cells per kidney glomerulus sjwang 2018-12-26T16:20:07Z An injury score obtained by multiplying the degree of glomerular damage (0 to 4) with the percentage of the glomeruli with that type of injury (i.e., increase in mesangial matrix material or glomerulosclerosis). mesangial injury score sjwang 2018-12-27T11:44:39Z Volume of blood plasma delivered to a single glomerulus per unit time Qa glomerular capillary plasma flow rate sjwang 2018-12-27T11:55:22Z Force exerted on the luminal capillary wall from fluid flowing through the capillary. glomerular capillary hydraulic pressure sjwang 2018-12-27T12:03:45Z Any measurement of one of the small blood vessels carrying blood between arteries and capillaries. arteriole measurement sjwang 2018-12-27T12:07:55Z Resistance that must be overcome to push blood through arterioles to create flow. arteriolar resistance sjwang 2018-12-27T12:21:25Z Resistance to blood flow measured within the efferent arteriole proximal to a glomerular capillary network. Re efferent glomerular arteriolar resistance efferent arteriolar resistance sjwang 2018-12-27T12:27:17Z Resistance to blood flow measured within the afferent arteriole distal to a glomerular capillary network. Ra afferent glomerular arteriolar resistance afferent arteriolar resistance sjwang 2018-12-27T12:33:35Z Total resistance to blood flow measured within the afferent arteriole proximal and distal to a glomerular capillary network (Rt = Ra + Re). Rt; total glomerular arteriolar resistance total arteriolar resistance sjwang 2018-12-27T12:45:26Z Measurement of the total amount of all proteins found in a specific volume of afferent arteriolar plasma. Ca afferent arteriolar plasma protein concentration sjwang 2018-12-27T12:49:32Z Measurement of the total amount of all proteins found in a specific volume of efferent arteriolar plasma. Ce efferent arteriolar plasma protein concentration sjwang 2018-12-27T12:53:15Z A form of osmotic pressure exerted by proteins, notably albumin, in the afferent arteriole's plasma that tends to pull water into the circulatory system. It is the opposing force to hydrostatic pressure. It has a major effect on the pressure across the glomerular filter. afferent colloid osmotic pressure sjwang 2018-12-27T13:07:24Z A form of osmotic pressure exerted by proteins, notably albumin, in the efferent arteriole's plasma that tends to pull water into the circulatory system. It is the opposing force to hydrostatic pressure. It has a major effect on the pressure across the glomerular filter efferent colloid osmotic pressure sjwang 2018-12-27T13:11:50Z A measure of a membrane's permeability to water; specifically, the volume of fluid filtered in unit time through a unit area of membrane per unit pressure difference, and it is defined as the glomerular filtration rate (GFR) for both kidneys per millimeter of mercury (mmHg) of filtration pressure. Kf glomerular capillary ultrafiltration coefficient sjwang 2018-12-27T14:28:13Z A calculated measurement in which the area occupied by renal cysts is divided by the total the kidney, and the result presented as a ratio, fraction, quotient or percentage. ratio of the area occupied by cysts to the total area of the kidney sjwang 2018-12-27T15:20:35Z Force exerted on the luminal surface of the proximal tubule from fluid flowing through the tubule. mean proximal tubular hydraulic pressure sjwang 2018-12-27T15:22:41Z Force exerted on the luminal vessel wall from fluid flowing through the efferent arteriole. efferent glomerular arteriolar hydraulic pressure efferent arteriolar hydraulic pressure sjwang 2018-12-27T15:27:01Z The difference between the force exerted on the luminal glomerular capillary wall and the force exerted on the luminal proximal tubular membrane (Pgc - Pt = delta P). Pgc - Pt = delta P glomerular transcapillary hydraulic pressure gradient sjwang 2018-12-27T15:58:18Z calculated left ventricular end-diastolic blood pressure measurement sjwang 2018-12-27T16:00:35Z A calculated measurement in which the pressure in the heart left ventricle at the end of diastole, the period when the heart is in a state of relaxation and expansion and the ventricles fill with blood, divided by the diameter across the left ventricle of the heart at the end of diastole and the result presented as a ratio, fraction, quotient or percentage. LVEDP/LVDd heart left ventricular end-diastolic blood pressure to heart left ventricular end-diastolic diameter ratio sjwang 2019-01-02T13:36:28Z Rate-pressure product is defined as the product of the heart rate (the number of contractions of the cardiac ventricles per unit of time) and mean arterial blood pressure (the average force the blood exerts on an artery wall). RPP rate-pressure product sjwang 2019-01-22T15:47:09Z A calculated measurement of the average width of the tunica media (the middle coat of the arterial wall) divided by the artery total diameter (measured as the length of a line which crosses a transverse view of an artery, passing through its center and ending on either side at the outer surface of the blood vessel wall). artery tunica media to artery total diameter ratio sjwang 2019-01-22T15:50:45Z A calculated measurement of the average width of the artery lumen (measured as the length of a line which crosses a transverse view of an artery, passing through its center and ending on either side at the inner surface of the blood vessel wall) divided by the artery total diameter (measured as the length of a line which crosses a transverse view of an artery, passing through its center and ending on either side at the outer surface of the blood vessel wall). artery lumen to artery total diameter ratio Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. tmeehan 2010-05-25T01:36:34Z cell neutrophillic cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. tmeehan 2009-12-22T04:23:25Z eosinophilic cell acidophilic cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. tmeehan 2009-12-22T04:24:54Z cell basophilic cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. tmeehan 2009-12-28T04:25:23Z cell polychromatophilic cytoplasm A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. tmeehan 2009-12-23T10:53:24Z cell increased nucleus size Heterochromatin that is arranged in a carthwheel pattern. tmeehan 2009-12-28T04:28:35Z cell cartwheel heterochromatin the role of a material entity to prevent, diagnose, treat, or study disease and/or its effects William Hogan William Hogan clinical drug role a material entity (1) containing at least one scattered molecular aggregate as part that is the bearer of an active ingredient role and (2) that is itself the bearer of a clinical drug role William Hogan William Hogan drug product active ingredient role a role of a scattered molecular aggregate that is part of a drug product that is realized by (1) administration of the drug to an organism followed by (2) some change in the structure or functioning of some part of the organism William R. Hogan active ingredient role of a scattered molecular aggregate a role borne by a scattered molecular aggregate and realized by its grains participating in one or more processes William R. Hogan role of scattered molecular aggregate administration of a drug product to an organism a treatment that has as participants an extended organism and a drug product and that results in part of the drug product being located in the extended organism William R. Hogan drug administration A exposure event involving the interaction of an exposure receptor to radiation. radiation exposure exposure to radiation A exposure event involving the interaction of an exposure receptor to electromagnetic radiation. electromagnetic radiation exposure exposure to electromagnetic radiation An exposure to organic molecular entity. exposure to organic molecular entity organic molecular entity exposure An exposure to organic cyclic compound. exposure to organic cyclic compound organic cyclic compound exposure An exposure to lipid. exposure to lipid lipid exposure An exposure to chemical entity. exposure to chemical entity chemical entity exposure An exposure to steroid hormone. exposure to steroid hormone steroid hormone exposure An exposure to glucocorticoid. exposure to glucocorticoid glucocorticoid exposure An exposure to oxygen molecular entity. exposure to oxygen molecular entity oxygen molecular entity exposure An exposure to application. exposure to application application exposure An exposure to drug. exposure to drug drug exposure An exposure to steroid. exposure to steroid steroid exposure A exposure event involving the interaction of an exposure receptor to environmental system process. environmental system process exposure exposure to environmental system process An exposure to alcohol. exposure to alcohol alcohol exposure An exposure to ketone. exposure to ketone ketone exposure An exposure to chemical entity. exposure to chemical entity chemical entity exposure An exposure to tetracycline. exposure to tetracycline tetracycline exposure An exposure to primary alcohol. exposure to primary alcohol primary alcohol exposure https://en.wikipedia.org/wiki/Geographic_feature macroscopic spatial feature envoPolar May appear on a map. geographic feature An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. FTT:78 TGN:50001 man-made feature manmade feature anthropogenic geographic feature FTT:1242 FTT:1252 FTT:15 FTT:16 FTT:18 FTT:19 FTT:21 FTT:22 FTT:23 FTT:24 FTT:25 FTT:26 FTT:27 FTT:28 FTT:29 FTT:37 SWEETRealm:AdministrativeRegion TGN:80001 TGN:81099 TGN:81123 https://en.wikipedia.org/wiki/Administrative_region administrative area administrative division administrative entity boundary region civil area district free trade zone governed place leased area (government) leased zone (government) neutral zone (political) prefecture protectorate sheikdom sultanate trade zone administrative region A political association with effective dominion over a geographic area. FTT:424 FTT:566 FTT:567 FTT:571 SWEETRealm:Country SWEETRealm:State TGN:80006 TGN:81010 TGN:81011 TGN:81102 https://en.wikipedia.org/wiki/Nation nation independent nation independent political entity independent sovereign nation ENVO country political entity state ENVO:00000009 national geopolitical entity 1 Place or area with clustered or scattered buildings and a permanent human population. place FTT:1097 FTT:33 Geonames:P.PPL Geonames:P.PPLS TGN:22201 TGN:83002 https://en.wikipedia.org/wiki/Populated_place inhabited place populated place populated places settlement ENVO inhabited region populated locality ENVO:00000062 populated place A feature that has been constructed by deliberate human effort. "constructed" should probably be made something like a quality and this class obsoleted or filled only by inference constructed feature construction A permanent walled and roofed construction. FTT:42 Geonames:S.BLDG LTER:76 TGN:51011 https://en.wikipedia.org/wiki/Building BUILDING building building A geographical region whose affairs and population are administered by an authority. FTT:1093 Geonames:A.PCL TGN:80002 political entity political entity Incorporated populated place. urban area EcoLexicon:city FTT:430 FTT:483 FTT:484 FTT:485 SWEETRealm:City TGN:83020 TGN:83040 TGN:83043 https://en.wikipedia.org/wiki/City ENVO ENVO:00000856 city An environmental feature that is, or can be, contained and is predominantly composed of one or a few types of stuff. An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance. mesoscopic physical object This is a legacy class from ENVO's early versions. It will be depopulated and filled in by inference using a PATO quality. Not to be confused with "mesoscopic" as defined in physics, which deals with objects typically between 10e-6 and 10-8 meters in diameter. mesoscopic physical object physical object of mesoscopic geological size A material entity which determines an environmental system. ENVO ENVO:00002297 A material entity determines an environmental system when its removal would cause the collapse of that system. For example, a seamount determines a seamount environment, acting as its 'hub'. This class is currently being aligned to the Basic Formal Ontology. Following this alignment, its definition and the definitions of its subclasses will be revised. environmental feature A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. manufactured good manufactured product ENVO ENVO:00003075 anthropogenic abiotic mesoscopic feature A portion of environmental material is a fiat object part which forms the medium or part of the medium of an environmental system. A portion of environmental material is a fiat object which forms the medium or part of the medium of an environmental system. environmental portion of environmental material Everything under this parent must be a mass noun. All subclasses are to be understood as being composed primarily of the named entity, rather than restricted to that entity. For example, "ENVO:water" is to be understood as "environmental material composed primarly of some CHEBI:water". This class is currently being aligned to the Basic Formal Ontology. Following this alignment, its definition and the definitions of its subclasses will be revised. environmental material ENVO ENVO:01000010 abiotic mesoscopic physical object A system which has the disposition to environ one or more material entities. 2013-09-23T16:04:08Z EcoLexicon:environment environment In ENVO's alignment with the Basic Formal Ontology, this class is being considered as a subclass of a proposed BFO class "system". The relation "environed_by" is also under development. Roughly, a system which includes a material entity (at least partially) within its site and causally influences that entity may be considered to environ it. Following the completion of this alignment, this class' definition and the definitions of its subclasses will be revised. environmental system An anthropogenic environment is an environmental system which is the product of human activity. Unsatisfactory definition here. Must consider the threshold that makes an environmental system anthropogenic. anthropogenic environment A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein. environmental area envoPolar Formerly, this class was an experimental class and a subclass of "environmental feature". It is now aligned to BFO. The class was not obsoleted as the core semantics maintained their stability through its transition. environmental zone A building part is a construction which is part of a building. Not recommended for annotation. This class is likely to be made into an inferred class as its subclasses are distributed among more meaningful superclasses (i.e. ceiling is_a surface layer). See for example, "building floor". The boundaries between building parts may be bona fide or fiat. building part Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies. space envoAstro outer space A settlement with a high density of buildings and inhabitants. See also: http://www.ecotope.org/anthromes/v1/guide/urban/12_dense_settlements/default.aspx The thresholds for what makes a settlment "dense" can be determined as needed. If there is a specific threshold that should be added to ENVO, please make a new class request. dense settlement A self-contained constructed feature used by one or more households as a home, such as a house, apartment, mobile home, houseboat or other 'substantial' structure. A dwelling typically includes nearby outbuildings, sheds etc. within the curtilage of the property, excluding any 'open fields beyond'. It has significance in relation to search and seizure, conveyancing of real property, burglary, trespass, and land use planning. See https://github.com/EnvironmentOntology/envo/issues/264 for discussion. This definition needs a lot of clean up and links to household and related classes must be made to form logical definitions for inference to work. Subclasses will be added by inference. human dwelling A village is a clustered human settlement or community, larger than a hamlet but smaller than a town, with a population ranging from a few hundred to a few thousand. Though often located in rural areas, the term urban village is also applied to certain urban neighbourhoods. Villages are normally permanent, with fixed dwellings; however, transient villages can occur. Further, the dwellings of a village are fairly close to one another, not scattered broadly over the landscape, as a dispersed settlement. This class may be split. "urban village" doesn't sit well and prevents relations to village biomes. village An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space. celestial body envoAstro Astronomical bodies are usually cohesive, thus the use of the term 'object' sensu BFO 'object'. astronomical body 1 An object which is composed of one or more gravitationally bound structures that are associated with a position in space. celestial object envoAstro If there is only one astronomical body involved, this class is equivalent to ENVO:01000799. This may be problematic with reasoning, but it seems to be true to the rather fuzzy definitions found thus far. astronomical object A material part of an astronomical body. envoAstro envoPolar astronomical body part A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact. A biosphere is an environmental system which includes, as parts, all the living entities within the gravitational sphere of influence of an astronomical body, and the non-living and dead entities which they interact with. Whether this class should be grouped with classes such as "hydrosphere" and "cryosphere" requires some discussion. envoAstro envoPolar The gravitational sphere of influence referenced in this class' definition is the Hill sphere: a region in which an object dominates the attraction of satellites despite gravitational perturbations. biosphere An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. non-anthropised environment non-anthropized environment In most contexts, 'natural' is defined by the lack of intervention or influence by humans and their activities. On Earth, most environments fall on a scale between completely natural and anthropised. natural environment A process during which a natural environmental system is altered by human action. anthropization An area may be classified as anthropized even though it looks natural, such as grasslands that have been deforested by humans. It can be difficult to determine how much a site has been anthropized in the case of urbanization because one must be able to estimate the state of the landscape before significant human action. anthropisation A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body. An environmental system which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology within the gravitational sphere of influence of an astronomical body. envoAstro The gravitational sphere of influence referenced in this class' definition is the Hill sphere: a region in which an object dominates the attraction of satellites despite gravitational perturbations. technosphere A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation. The term may refer to a range of human activity, from handicraft to high tech, but is most commonly applied to industrial production, in which raw materials are transformed into finished goods on a large scale. manufacturing process An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures. The nature of "structures" must be further specified. construction process A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium. radiation A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy. EM radiation electromagnetic radiation An environmental system which includes both living and non-living components. LTER:173 This class will be primarily filled by inference, any environmental system which necessarily includes living parts should be autoclassified here. ecosystem A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms. Materials which are usually assessed when appraising geodiversity include minerals, rocks, sediments, fossils, soils and water. Landforms factored into geodiversity metrics typically include folds, faults, and other expressions of morphology or relations between units of earth material. Natural processes that are included in measures of geodiversity are those which either maintain or change materials or geoforms, including tectonics, sediment transport, and pedogenesis. Geodiversity does not usually factor in anthropogenic entities. geodiversity A process during which an ecosystem, its parts, or the processes it participates in are modified by human intervention to accomplish an objective. ecosystem management Umweltmaßnahme environmental management active ecosystem management process A process during which an ecosystem - natural or anthropised - is changed by the actions of humans. http://orcid.org/0000-0002-4366-3088 anthropogenic ecosystem conversion process A planned process during which humans access and obtain resources, benefits, or services from a natural or anthropised ecosystem. http://orcid.org/0000-0002-4366-3088 planned environmental usage process A planned environmental usage process during which an environment supports the settlement and dwelling of a community of humans. http://orcid.org/0000-0002-4366-3088 residential This class does not include environments which are primarily used for commerce or industry. usage of an environment for residential activity A building which is primarily used for the long-term habitation of humans. http://orcid.org/0000-0002-4366-3088 2018-10-04T14:04:49Z domestic building A process during which one entity loses energy to another entity. energy transfer process A process in which includes the components of an environmental system as participants. This is a convenience class for organisation and should not be used for annotation. environmental system process A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process. Relabel the obo foundry unique label to be generic process anthropogenic modulatory intervention process An environmental process which is driven by the action of humans. anthropogenic environmental process A process during which material is displaced from its original location and transported either to a new location or back to the original location. http://orcid.org/0000-0002-3410-4655 http://orcid.org/0000-0002-4366-3088 envoPolar Experimental class for structural purposes not recommended for annotation. material transport process A process during which a portion of some environmental material is converted into a different material or a collection of materials. A different material transformation process class (or similarly named class) pertaining to the conversion of a specific chemical into another belongs in CHEBI and or REX ontologies. http://orcid.org/0000-0002-3410-4655 http://orcid.org/0000-0002-4366-3088 envoPolar Experimental class for structural purposes not recommended for annotation. A material transformation process only refers to ENVO:environmental material classes (e.g. bulk and typically impure substances), rather than transformations converting a specific chemical into another. material transformation process exposure stressor exposure receptor exposure event A substance, usually composed primarily of carbohydrates, fats, water and/or proteins, that can be eaten or drunk by an animal or human being for nutrition or pleasure. Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products. food product foodon product type A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component. food component food product component Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience food foodstuff nourishment sustenance food material A food product type is a class of food products that is differentiated by its food composition, processing and/or consumption characteristics. This does not include brand name products but it may include generic food dish categories. An agency food product type is a class of food product defined by an agency or consortium. http://langual.org http://www.langual.org/langual_thesaurus.asp?termid=A0361 This class is designed to hold 3rd party food classification schemes which are being mapped to FoodOn classes using the 'has member' relation. The two hierarchies are not melded into a subclass polyhierarchy because of possible logical inconsistencies in the agency schemes. The hierarchies of agency schemes are as true to their agency representation as possible. agency food product type food product type Any chemical or chemical mixture that exists in a food material or was added to a food material. chemical food component food additive Anatomical part of the plant or animal from which a food product or its major ingredient is derived. part of organism Bone, feathers, shell, skin or trim fat. nonmeat part of animal Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal. animal body or body part Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism. part of animal The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. mitochondrial genome maintenance The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. GO:0019952 GO:0050876 Wikipedia:Reproduction reproductive physiological process biological_process GO:0000003 reproduction The chemical reactions and pathways involving amino acids containing sulfur, comprising cysteine, homocysteine, methionine and selenocysteine. sulfur amino acid metabolism sulphur amino acid metabolic process sulphur amino acid metabolism sulfur amino acid metabolic process An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. Wikipedia:MAPK_cascade Wikipedia:Mitogen-activated_protein_kinase MAP kinase cascade MAP kinase kinase kinase cascade MAPK signal transduction MAPKKK cascade mitogen-activated protein kinase cascade ERK/MAPK cascade MAPKKK cascade during sporulation biological_process MAPK signaling MAPK signalling GO:0000165 MAPK cascades lie downstream of many cell surface receptors and cooperate in transmitting various extracellular signals to the nucleus. One way by which the specificity of each cascade is regulated is through the existence of several distinct components in each tier of the different cascades. The cascades are typically named according to the component in the MAPK tier. MAPK cascade A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. https://github.com/geneontology/go-ontology/issues/23114 https://github.com/geneontology/go-ontology/issues/23195 microtubule cytoskeleton organisation biological_process microtubule cytoskeleton organization and biogenesis GO:0000226 microtubule cytoskeleton organization Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. GO:0007067 Wikipedia:Mitosis biological_process mitosis GO:0000278 Note that this term should not be confused with 'GO:0140014 ; mitotic nuclear division'. 'GO:0000278 ; mitotic cell cycle represents the entire mitotic cell cycle, while 'GO:0140014 ; mitotic nuclear division' specifically represents the actual nuclear division step of the mitotic cell cycle. mitotic cell cycle The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei. biological_process karyokinesis GO:0000280 nuclear division A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases. cellular_component GO:0000323 lytic vacuole The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). nuclear chromosome, telomere nuclear chromosome, telomeric region telomere chromosome, telomeric region The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. GO:0000789 GO:0000790 GO:0005717 NIF_Subcellular:sao1615953555 cytoplasmic chromatin nuclear chromatin cellular_component chromosome scaffold GO:0000785 Chromosomes include parts that are not part of the chromatin. Examples include the kinetochore. chromatin A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation. A dispersed and relatively uncompacted form of chromatin. https://github.com/geneontology/go-ontology/issues/22355 GO:0005719 GO:0035327 NIF_Subcellular:sao445485807 Wikipedia:Euchromatin transcriptionally active chromatin cellular_component nuclear euchromatin GO:0000791 euchromatin A compact and highly condensed form of chromatin that is refractory to transcription. A compact and highly condensed form of chromatin. https://github.com/geneontology/go-ontology/issues/22355 GO:0005720 GO:0035328 NIF_Subcellular:sao581845896 Wikipedia:Heterochromatin transcriptionally inactive chromatin transcriptionally silent chromatin nuclear heterochromatin cellular_component GO:0000792 heterochromatin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by the chemical structure of the anion portion of a dissociated acid (rather than the acid acting as a proton donor). The acid chemical may be in gaseous, liquid or solid form. response to acid biological_process response to acid anion response to oxoanion GO:0001101 This term should be used to describe a response to a specific acid as a chemical. E.g., if an organism were responding to glutamate, then the response would be glutamate-specific; the organism is actually responding to the chemical structure of the anion portion of the dissociated acid. 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 QC. If annotating experiments where an acid is playing a role as a proton donor, please annotate to GO:0010447 'response to acidic pH' instead. response to acid chemical The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). skeletal development skeletal system development The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. bone biosynthesis bone formation osteogenesis ossification A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. biological_process GO:0001508 Action potentials typically propagate across excitable membranes. This class covers both action potentials that propagate and those that fail to do so. action potential Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. Wikipedia:Angiogenesis blood vessel formation from pre-existing blood vessels biological_process GO:0001525 angiogenesis Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. ciliary/flagellar motility ciliary or bacterial-type flagellar motility cilium or flagellum-dependent cell motility The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. biological_process GO:0001568 blood vessel development A process that results in a parallel arrangement of microtubules. microtubule bundling biological_process GO:0001578 microtubule bundle formation The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. eye development The process whose specific outcome is the progression of the urogenital system over time, from its formation to the mature structure. biological_process GO:0001655 urogenital system development Interacting selectively and non-covalently with a G protein-coupled receptor. Reactome:R-HSA-500717 G protein coupled receptor binding G-protein coupled receptor binding G protein coupled receptor ligand G-protein-coupled receptor ligand molecular_function GO:0001664 G protein-coupled receptor binding Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. response to hypoxic stress response to lowered oxygen tension response to intermittent hypoxia response to sustained hypoxia biological_process GO:0001666 Note that this term should not be confused with 'response to anoxia ; GO:0034059'. Note that in laboratory studies, hypoxia is typically studied at O2 concentrations ranging from 0.1 - 5%. response to hypoxia Cell migration that is accomplished by extension and retraction of a pseudopodium. ameboid cell migration amoeboid cell migration amoeboidal cell migration biological_process GO:0001667 Note that this term refers to a mode of migration rather than to any particular cell type. ameboidal-type cell migration Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). translation initiation ternary complex assembly biological_process GO:0001677 formation of translation initiation ternary complex A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. cell glucose homeostasis cellular glucose homeostasis The formation of the ectoderm, mesoderm and endoderm during gastrulation. biological_process GO:0001704 formation of primary germ layer The formation of ectoderm during gastrulation. biological_process GO:0001705 ectoderm formation The formation of the endoderm during gastrulation. endoblast formation biological_process GO:0001706 endoderm formation The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. biological_process GO:0001707 mesoderm formation Catalysis of the phosphorylation of a simple or complex lipid. molecular_function GO:0001727 lipid kinase activity The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. neural crest cell migration The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. branching morphogenesis biological_process GO:0001763 morphogenesis of a branching structure The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. biological_process GO:0001773 myeloid dendritic cell activation A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. A multicellular organismal process by which exposure to an activating factor such as a cellular or soluble ligand results in a change in the morphology or behavior of a cell. https://github.com/geneontology/go-ontology/issues/24416 biological_process GO:0001775 cell activation An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue. type III hypersensitivity The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. https://github.com/geneontology/go-ontology/issues/19116 GO:0042032 GO:0042089 GO:0042107 GO:0050663 cytokine biosynthetic process cytokine metabolic process cytokine secretion interferon production interferon secretion interleukin production interleukin secretion biological_process GO:0001816 Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. cytokine production The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. 5-HT secretion 5-hydroxytryptamine secretion serotonin release serotonin secretion The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems. biological_process GO:0001821 histamine secretion The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. Wikipedia:Kidney_development biological_process nephrogenesis GO:0001822 kidney development The morphogenesis of an embryonic epithelium into a tube-shaped structure. biological_process GO:0001838 embryonic epithelial tube formation The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. GO:0001679 Wikipedia:Neurulation neural tube morphogenesis neurulation biological_process GO:0001841 neural tube formation A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. tissue maintenance biological_process GO:0001894 tissue homeostasis The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. biological_process vascular system development GO:0001944 vasculature development A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system. biological_process renal blood volume control of blood pressure renal regulation of blood volume GO:0001977 renal system process involved in regulation of blood volume The process in which hormones modulate the force with which blood passes through the circulatory system. A hormone is one of a group of substances formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells, in the same organism, upon which they have a specific regulatory action. blood pressure regulation by hormone hormonal regulation of blood pressure biological_process hormonal control of blood pressure GO:0001990 regulation of systemic arterial blood pressure by hormone The process in which angiotensinogen metabolites in the bloodstream modulate the force with which blood passes through the circulatory system. The process begins when renin is released and cleaves angiotensinogen. circulatory renin-angiotensin blood pressure regulation circulatory renin-angiotensin regulation of blood pressure biological_process circulatory renin-angiotensin control of blood pressure control of blood pressure by circulatory renin-angiotensin renin-angiotensin blood pressure control GO:0001991 regulation of systemic arterial blood pressure by circulatory renin-angiotensin The physiological response of the kidneys to a decrease in blood flow. biological_process renal response to blood flow during renin-angiotensin control of blood pressure GO:0001999 renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure The regulated release of renin into the blood stream by juxtoglomerular cells. renin release into blood stream biological_process GO:0002001 renin secretion into blood stream The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. epithelium morphogenesis biological_process GO:0002009 morphogenesis of an epithelium The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. lens development lens development in camera-style eye lens development in camera-type eye The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. lens morphogenesis lens morphogenesis in camera-style eye lens morphogenesis in camera-type eye The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. biological_process GO:0002200 Note that this process covers somatic recombination, gene conversion, hypermutation, N-region addition, and alternate splicing processes of immune receptor diversification. somatic diversification of immune receptors The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. biological_process somatic recombination of antibody genes during immune response somatic recombination of immunoglobulin genes during immune response GO:0002204 somatic recombination of immunoglobulin genes involved in immune response The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. biological_process somatic diversification of antibodies during immune response somatic diversification of immunoglobulins during immune response GO:0002208 somatic diversification of immunoglobulins involved in immune response The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines. NK cell mediated immunity biological_process GO:0002228 natural killer cell mediated immunity Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. response to bacteria associated molecule response to bacterial associated molecule response to bacterium associated molecule biological_process GO:0002237 response to molecule of bacterial origin The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. haematopoietic progenitor cell differentiation haemopoietic progenitor cell differentiation hemopoietic progenitor cell differentiation biological_process GO:0002244 hematopoietic progenitor cell differentiation An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). Wikipedia:Adaptive_immune_system acquired immune response immune memory response biological_process GO:0002250 adaptive immune response Any process of the immune system that can potentially contribute to an immune response. Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation. https://github.com/geneontology/go-ontology/issues/18737 biological_process GO:0002252 immune effector process Any process that initiates an immune response. activation of immune response The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. biological_process GO:0002262 myeloid cell homeostasis A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. biological_process cell activation during immune response GO:0002263 cell activation involved in immune response A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. myeloid leucocyte activation biological_process GO:0002274 myeloid leukocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. biological_process lymphocyte activation during immune response GO:0002285 lymphocyte activation involved in immune response The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. biological_process B cell activation during immune response B lymphocyte activation during immune response B-cell activation during immune response B-lymphocyte activation during immune response GO:0002312 B cell activation involved in immune response The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen. mature B lymphocyte differentiation mature B-cell differentiation mature B-lymphocyte differentiation biological_process mature cell development GO:0002335 Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. mature B cell differentiation The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. histamine production involved in acute inflammatory response biological_process GO:0002349 histamine production involved in inflammatory response A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. biological_process immune cell activation during immune response leucocyte activation during immune response leukocyte activation during immune response GO:0002366 leukocyte activation involved in immune response Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. Wikipedia:Immune_system biological_process GO:0002376 Note that this term is a direct child of 'biological_process ; GO:0008150' because some immune system processes are types of cellular process (GO:0009987), whereas others are types of multicellular organism process (GO:0032501). immune system process The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. GO:0002378 GO:0048305 antibody production immunoglobulin biosynthetic process immunoglobulin secretion biological_process GO:0002377 Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. immunoglobulin production The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels. GO:0002379 GO:0002380 immunoglobulin production involved in immunoglobulin mediated immune response immunoglobulin biosynthetic process involved in immune response immunoglobulin secretion involved in immune response biological_process antibody production during immune response antibody secretion during immune response immunoglobulin production during immune response immunoglobulin production involved in immune response GO:0002381 Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. immunoglobulin production involved in immunoglobulin-mediated immune response An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. inflammatory response to antigenic stimulus An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. acute inflammatory response to antigenic stimulus The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. biological_process production of cellular mediator of immune response GO:0002440 Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. production of molecular mediator of immune response Any process involved in the carrying out of an immune response by a leukocyte. GO:0019723 GO:0042087 immune cell effector process immune cell mediated immunity leucocyte immune effector process leucocyte mediated immunity leukocyte immune effector process biological_process cell-mediated immune response cellular immune response GO:0002443 leukocyte mediated immunity Any process involved in the carrying out of an immune response by a myeloid leukocyte. myeloid leucocyte immune effector process myeloid leucocyte mediated immunity myeloid leukocyte immune effector process myeloid leukocyte mediated immunity Any process involved in the carrying out of an immune response by a lymphocyte. cell-mediated immunity cellular immune response biological_process GO:0002449 lymphocyte mediated immunity Any process involved in the carrying out of an immune response by a T cell. cell-mediated immunity cellular immune response T lymphocyte mediated immunity T-cell mediated immunity T-lymphocyte mediated immunity biological_process GO:0002456 T cell mediated immunity An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. biological_process GO:0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation. immune response-dependent tolerance induction biological_process GO:0002461 tolerance induction dependent upon immune response Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues. biological_process GO:0002465 peripheral tolerance induction The process in which an antigen-presenting cell expresses a peptide antigen on its cell surface in association with an MHC class II protein complex. The peptide antigen is typically, but not always, processed from a whole protein. peptide antigen processing and presentation via MHC class II biological_process GO:0002495 antigen processing and presentation of peptide antigen via MHC class II The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. peptide or polysaccharide antigen processing and presentation of via MHC class II biological_process GO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it. biological_process GO:0002507 tolerance induction The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. biological_process GO:0002520 immune system development The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. immune cell differentiation leucocyte differentiation biological_process GO:0002521 leukocyte differentiation An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. hypersensitivity response hypersensitivity Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. acute inflammatory response The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. production of molecular mediator involved in acute inflammatory response biological_process production of cellular mediator of acute inflammation GO:0002532 production of molecular mediator involved in inflammatory response A phase of elevated metabolic activity, during which oxygen consumption increases following a stimulus as part of an inflammatory response; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, resulting in an increase in their intracellular or extracellular levels. oxidative burst during acute inflammatory response production of reactive oxygen species during acute inflammatory response respiratory burst involved in acute inflammatory response biological_process GO:0002536 respiratory burst involved in inflammatory response The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels. arachidonic acid metabolite production involved in acute inflammatory response production of arachidonic acid metabolites involved in acute inflammatory response production of arachidonic acid metabolites involved in inflammatory response biological_process GO:0002538 arachidonic acid metabolite production involved in inflammatory response The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. prostaglandin production involved in acute inflammatory response biological_process GO:0002539 prostaglandin production involved in inflammatory response The movement of a monocyte in response to an external stimulus. biological_process GO:0002548 monocyte chemotaxis The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. biological_process GO:0002562 somatic diversification of immune receptors via germline recombination within a single locus The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. myeloid leucocyte differentiation biological_process GO:0002573 myeloid leukocyte differentiation The regulated exocytosis of secretory granules containing preformed mediators such as histamine and serotonin by a platelet. platelet exocytosis biological_process GO:0002576 platelet degranulation Any process that modulates the frequency, rate, or extent of tolerance induction. biological_process GO:0002643 regulation of tolerance induction Any process that activates or increases the frequency, rate, or extent of tolerance induction. up regulation of tolerance induction up-regulation of tolerance induction upregulation of tolerance induction activation of tolerance induction stimulation of tolerance induction biological_process GO:0002645 positive regulation of tolerance induction Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. regulation of immune response-dependent tolerance induction biological_process GO:0002652 regulation of tolerance induction dependent upon immune response Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. positive regulation of immune response-dependent tolerance induction up regulation of tolerance induction dependent upon immune response up-regulation of tolerance induction dependent upon immune response upregulation of tolerance induction dependent upon immune response activation of tolerance induction dependent upon immune response stimulation of tolerance induction dependent upon immune response biological_process GO:0002654 positive regulation of tolerance induction dependent upon immune response Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. biological_process GO:0002658 regulation of peripheral tolerance induction Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. up regulation of peripheral tolerance induction up-regulation of peripheral tolerance induction upregulation of peripheral tolerance induction activation of peripheral tolerance induction stimulation of peripheral tolerance induction biological_process GO:0002660 positive regulation of peripheral tolerance induction A phase of elevated metabolic activity, during which oxygen consumption increases made as part of a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. biological_process GO:0002679 respiratory burst involved in defense response Any process that modulates the frequency, rate, or extent of an immune system process. biological_process GO:0002682 regulation of immune system process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. down regulation of immune system process down-regulation of immune system process downregulation of immune system process inhibition of immune system process biological_process GO:0002683 negative regulation of immune system process Any process that activates or increases the frequency, rate, or extent of an immune system process. up regulation of immune system process up-regulation of immune system process upregulation of immune system process activation of immune system process stimulation of immune system process biological_process GO:0002684 positive regulation of immune system process Any process that modulates the frequency, rate, or extent of leukocyte migration. regulation of immune cell migration regulation of leucocyte migration biological_process GO:0002685 regulation of leukocyte migration Any process that activates or increases the frequency, rate, or extent of leukocyte migration. positive regulation of immune cell migration positive regulation of leucocyte migration up regulation of leukocyte migration up-regulation of leukocyte migration upregulation of leukocyte migration activation of leukocyte migration stimulation of leukocyte migration biological_process GO:0002687 positive regulation of leukocyte migration Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. regulation of immune cell chemotaxis regulation of leucocyte chemotaxis biological_process GO:0002688 regulation of leukocyte chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. positive regulation of immune cell chemotaxis positive regulation of leucocyte chemotaxis up regulation of leukocyte chemotaxis up-regulation of leukocyte chemotaxis upregulation of leukocyte chemotaxis activation of leukocyte chemotaxis stimulation of leukocyte chemotaxis biological_process GO:0002690 positive regulation of leukocyte chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte activation. regulation of immune cell activation regulation of leucocyte activation biological_process GO:0002694 regulation of leukocyte activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. positive regulation of immune cell activation positive regulation of leucocyte activation up regulation of leukocyte activation up-regulation of leukocyte activation upregulation of leukocyte activation activation of leukocyte activation stimulation of leukocyte activation biological_process GO:0002696 positive regulation of leukocyte activation The controlled release of a peptide from a cell or a tissue. peptide secretion Any process that modulates the frequency, rate, or extent of an adaptive immune response. biological_process GO:0002819 regulation of adaptive immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. up regulation of adaptive immune response up-regulation of adaptive immune response upregulation of adaptive immune response activation of adaptive immune response stimulation of adaptive immune response biological_process GO:0002821 positive regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. biological_process GO:0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. biological_process GO:0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of a type 2 immune response. regulation of T-helper 2 type immune response regulation of Th2 immune response biological_process GO:0002828 regulation of type 2 immune response Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. up regulation of type 2 immune response up-regulation of type 2 immune response upregulation of type 2 immune response activation of type 2 immune response positive regulation of T-helper 2 type immune response positive regulation of Th2 immune response stimulation of type 2 immune response biological_process GO:0002830 positive regulation of type 2 immune response A developmental process in which a progressive change in the state of some part of an organism specifically contributes to its ability to form offspring. puberty reproductive developmental process developmental process involved in reproduction 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 organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. Wikipedia:Circulatory_system biological_process GO:0003013 circulatory system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). excretory system process biological_process kidney system process GO:0003014 renal system process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. cardiac process GO:0003015 heart process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. GO:0010802 respiratory gaseous exchange biological_process GO:0003016 respiratory system process The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine. blood pressure regulation mediated by a chemical signal biological_process GO:0003044 regulation of systemic arterial blood pressure mediated by a chemical signal Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. renal control of blood pressure renal regulation of systemic arterial blood pressure biological_process GO:0003071 renal system process involved in regulation of systemic arterial blood pressure The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. biological_process GO:0003073 regulation of systemic arterial blood pressure The process in which renin-angiotensin modulates the force with which blood passes through the circulatory system. blood pressure regulation by renin-angiotensin biological_process GO:0003081 regulation of systemic arterial blood pressure by renin-angiotensin Renal process involved in the maintenance of an internal steady state of water in the body. water homeostasis by the renal system biological_process GO:0003091 renal water homeostasis Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule. biological_process GO:0003093 regulation of glomerular filtration The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. biological_process GO:0003094 glomerular filtration The directed movement of water (H2O) by the renal system. biological_process GO:0003097 renal water transport The process in which an amino acid is transported across a membrane. amino acid membrane transport amino acid transmembrane transport The directed, self-propelled movement of a cilium. microtubule-based flagellum movement flagellar movement flagellum movement ciliary motility cilium beating flagellar motility cilium movement A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. These actions are described from two distinct but related perspectives: (1) biochemical activity, and (2) role as a component in a larger system/process. molecular process GO:0005554 molecular function molecular_function GO:0003674 Note that, in addition to forming the root of the molecular function ontology, this term is recommended for the annotation of gene products whose molecular function is unknown. When this term is used for annotation, it indicates that no information was available about the molecular function of the gene product annotated as of the date the annotation was made; the evidence code 'no data' (ND), is used to indicate this. Despite its name, this is not a type of 'function' in the sense typically defined by upper ontologies such as Basic Formal Ontology (BFO). It is instead a BFO:process carried out by a single gene product or complex. Note that, in addition to forming the root of the molecular function ontology, this term is recommended for use for the annotation of gene products whose molecular function is unknown. When this term is used for annotation, it indicates that no information was available about the molecular function of the gene product annotated as of the date the annotation was made; the evidence code 'no data' (ND), is used to indicate this. Despite its name, this is not a type of 'function' in the sense typically defined by upper ontologies such as Basic Formal Ontology (BFO). It is instead a BFO:process carried out by a single gene product or complex. molecular_function Interacting selectively and non-covalently with any nucleic acid. GO:0000496 base pairing molecular_function GO:0003676 nucleic acid binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). GO:0043566 plasmid binding molecular_function microtubule/chromatin interaction structure specific DNA binding structure-specific DNA binding GO:0003677 DNA binding Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. Wikipedia:Enzyme enzyme activity molecular_function GO:0003824 catalytic activity Catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum. glycerophosphatase activity phosphomonoesterase activity EC:3.1.3.1 MetaCyc:ALKAPHOSPHA-RXN Reactome:R-HSA-8878787 alkaline phenyl phosphatase activity alkaline phosphohydrolase activity alkaline phosphomonoesterase activity orthophosphoric-monoester phosphohydrolase (alkaline optimum) phosphate-monoester phosphohydrolase (alkaline optimum) GO:0004035 alkaline phosphatase activity Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. D-glucose-6-phosphate phosphohydrolase activity glucose 6-phosphate phosphatase activity glucose-6-phosphatase activity Catalysis of the hydrolysis of any O-glycosyl bond. O-glucosyl hydrolase activity hydrolase activity, hydrolyzing O-glycosyl compounds Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase. melibiase activity alpha-D-galactosidase activity alpha-D-galactoside galactohydrolase activity alpha-galactosidase A alpha-galactoside galactohydrolase activity alpha-galactosidase activity Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. GO:0050222 MetaCyc:PROTEIN-KINASE-RXN Reactome:R-HSA-156832 Reactome:R-HSA-937034 Reactome:R-HSA-9604606 Reactome:R-HSA-9673284 Reactome:R-HSA-975139 protamine kinase activity molecular_function GO:0004672 Note that triphosphate is used as a phosphate donor by at least one kinase. protein kinase activity Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. GO:0004718 EC:2.7.10.- Reactome:R-HSA-112333 Reactome:R-HSA-114600 Reactome:R-HSA-1168394 Reactome:R-HSA-1169421 Reactome:R-HSA-1225952 Reactome:R-HSA-1225960 Reactome:R-HSA-1247844 Reactome:R-HSA-1248655 Reactome:R-HSA-1248694 Reactome:R-HSA-1250195 Reactome:R-HSA-1250315 Reactome:R-HSA-1250348 Reactome:R-HSA-1251922 Reactome:R-HSA-1295540 Reactome:R-HSA-1295609 Reactome:R-HSA-1307963 Reactome:R-HSA-1433418 Reactome:R-HSA-1433454 Reactome:R-HSA-1433488 Reactome:R-HSA-1433506 Reactome:R-HSA-1433542 Reactome:R-HSA-1470009 Reactome:R-HSA-1472121 Reactome:R-HSA-1524186 Reactome:R-HSA-1671691 Reactome:R-HSA-170070 Reactome:R-HSA-170156 Reactome:R-HSA-170991 Reactome:R-HSA-171011 Reactome:R-HSA-174164 Reactome:R-HSA-177930 Reactome:R-HSA-177934 Reactome:R-HSA-177937 Reactome:R-HSA-182969 Reactome:R-HSA-183058 Reactome:R-HSA-1839065 Reactome:R-HSA-1839067 Reactome:R-HSA-1839098 Reactome:R-HSA-1839110 Reactome:R-HSA-1839112 Reactome:R-HSA-186786 Reactome:R-HSA-1888198 Reactome:R-HSA-190326 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Reactome:R-HSA-9706350 Reactome:R-HSA-982807 Reactome:R-HSA-983703 Reactome:R-HSA-983707 Reactome:R-HSA-983709 protein-tyrosine kinase activity JAK Janus kinase activity molecular_function GO:0004713 protein tyrosine kinase activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. ATP:protein-tyrosine O-phosphotransferase activity EC:2.7.10.1 MetaCyc:2.7.10.1-RXN RHEA:10596 Reactome:R-HSA-166544 Reactome:R-HSA-167019 Reactome:R-HSA-167683 Reactome:R-HSA-169905 Reactome:R-HSA-177933 Reactome:R-HSA-198295 Reactome:R-HSA-6784324 Reactome:R-HSA-74711 Reactome:R-HSA-74715 Reactome:R-HSA-74742 Reactome:R-HSA-8852552 Reactome:R-HSA-8853792 Reactome:R-HSA-8950269 Reactome:R-HSA-8950340 Reactome:R-HSA-8950354 Reactome:R-HSA-8950364 Reactome:R-HSA-8950405 Reactome:R-HSA-8950423 Reactome:R-HSA-8950453 Reactome:R-HSA-8950485 Reactome:R-HSA-8950537 Reactome:R-HSA-8950591 Reactome:R-HSA-8950757 Reactome:R-HSA-8982163 Reactome:R-HSA-8983300 Reactome:R-HSA-8983309 Reactome:R-HSA-8983371 Reactome:R-HSA-8983424 Reactome:R-HSA-8986985 Reactome:R-HSA-8986994 Reactome:R-HSA-8986995 Reactome:R-HSA-8987012 Reactome:R-HSA-8987040 Reactome:R-HSA-8987042 Reactome:R-HSA-8987070 Reactome:R-HSA-8987084 Reactome:R-HSA-8987096 Reactome:R-HSA-8987129 Reactome:R-HSA-8987141 Reactome:R-HSA-8987150 Reactome:R-HSA-8987179 Reactome:R-HSA-8987202 Reactome:R-HSA-8987255 Drosophila Eph kinase activity anaplastic lymphoma kinase activity ephrin-B3 receptor tyrosine kinase activity insulin receptor protein-tyrosine kinase activity neurite outgrowth regulating kinase activity novel oncogene with kinase-domain activity molecular_function ATP:protein-L-tyrosine O-phosphotransferase (receptor-type) activity neurotrophin TRK receptor activity neurotrophin TRKA receptor activity neurotrophin TRKB receptor activity neurotrophin TRKC receptor activity receptor protein tyrosine kinase activity receptor protein-tyrosine kinase activity sevenless receptor activity GO:0004714 transmembrane receptor protein tyrosine kinase activity Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+). ribose-phosphate pyrophosphokinase activity 5-phosphoribose pyrophosphorylase activity 5-phosphoribosyl-1-pyrophosphate synthetase activity 5-phosphoribosyl-alpha-1-pyrophosphate synthetase activity ATP:D-ribose-5-phosphate diphosphotransferase activity PP-ribose P synthetase activity PPRibP synthetase activity PRPP synthetase activity phosphoribosyl diphosphate synthetase activity phosphoribosyl pyrophosphate synthetase activity phosphoribosyl-diphosphate synthetase activity phosphoribosylpyrophosphate synthase activity phosphoribosylpyrophosphate synthetase activity pyrophosphoribosylphosphate synthetase activity ribophosphate pyrophosphokinase activity ribose-5-phosphate pyrophosphokinase activity ribose-phosphate diphosphokinase activity ribose phosphate diphosphokinase activity true Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. GO:0004926 GO:0099600 transmembrane receptor activity Reactome:R-HSA-193672 transmembrane signalling receptor activity molecular_function GO:0004888 This term includes intracellular membrane receptors, e.g. IP3 triggered release of Ca2+ from intracellular stores. transmembrane signaling receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. GO:0001622 GO:0001623 GO:0001624 GO:0001625 GO:0016526 Reactome:R-HSA-114552 Reactome:R-HSA-114558 Reactome:R-HSA-167408 Wikipedia:GPCR G protein coupled receptor activity G protein linked receptor activity G-protein coupled receptor activity G-protein linked receptor activity GPCR activity ligand-dependent GPCR activity receptor activity, G-protein coupled EBV-induced receptor Epstein-Barr Virus-induced receptor activity G-protein coupled receptor activity, unknown ligand Mas proto-oncogene receptor activity RDC1 receptor activity SREB receptor orphan G protein coupled receptor activity orphan G-protein coupled receptor activity orphan GPCR activity super conserved receptor expressed in brain receptor activity molecular_function GO:0004930 G protein-coupled receptor activity Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. Interacting selectively and non-covalently with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. receptor binding Wikipedia:Ligand_(biochemistry) receptor ligand molecular_function receptor-associated protein activity GO:0005102 Where appropriate, also consider annotating to 'receptor agonist activity ; GO:0048018'. signaling receptor binding Interacting selectively and non-covalently with a cytokine receptor. hematopoietin/interferon-class (D200-domain) cytokine receptor binding hematopoietin/interferon-class (D200-domain) cytokine receptor ligand molecular_function GO:0005126 cytokine receptor binding The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. cAMP generating peptide activity glycopeptide hormone lipopeptide hormone peptide hormone hormone activity The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary. GnRH activity LH/FSH-RF LHRH activity gonadotrophin hormone-releasing hormone activity luteinizing hormone-releasing factor activity luteinizing hormone-releasing hormone activity luteinizing hormone/follicle-stimulating hormone releasing factor activity gonadotropin hormone-releasing hormone activity Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. GO:0005478 EC:7.-.-.- Reactome:R-HSA-168313 Reactome:R-HSA-178215 molecular_function carrier GO:0005215 Some transporters, such as certain members of the SLC family, are referred to as 'carriers'; however GO uses carrier with a different meaning: a carrier binds to and transports the substance (see GO:0140104 molecular carrier activity), whereas a transporter forms some pore that allows the passing of molecules. transporter activity Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). molecular_function GO:0005216 ion channel activity Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. voltage gated ion channel activity molecular_function GO:0005244 voltage-gated ion channel activity Enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. voltage gated sodium channel activity molecular_function GO:0005248 voltage-gated sodium channel activity Enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. molecular_function GO:0005267 potassium channel activity Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage. organic acid transmembrane transporter activity Enables the transfer of water (H2O) from one side of a membrane to the other. molecular_function GO:0005372 water transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion A(out) + inorganic anion B(in) = inorganic anion A(in) + inorganic anion B(out). Reactome:R-HSA-1237038 Reactome:R-HSA-1247665 Reactome:R-HSA-425482 Reactome:R-HSA-425577 Reactome:R-HSA-427666 Reactome:R-HSA-5627737 Reactome:R-HSA-5656248 molecular_function GO:0005452 inorganic anion exchanger activity The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. Wikipedia:Binding_(molecular) ligand molecular_function GO:0005488 Note that this term is in the subset of terms that should not be used for direct, manual gene product annotation. Please choose a more specific child term, or request a new one if no suitable term is available. For ligands that bind to signal transducing receptors, consider the molecular function term 'receptor binding ; GO:0005102' and its children. binding Binding to a protein. Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). GO:0001948 GO:0045308 protein amino acid binding glycoprotein binding molecular_function GO:0005515 protein binding A location, relative to cellular compartments and structures, occupied by a macromolecular machine when it carries out a molecular function. There are two ways in which the gene ontology describes locations of gene products: (1) relative to cellular structures (e.g., cytoplasmic side of plasma membrane) or compartments (e.g., mitochondrion), and (2) the stable macromolecular complexes of which they are parts (e.g., the ribosome). A location, relative to cellular compartments and structures, occupied by a macromolecular machine. There are three types of cellular components described in the gene ontology: (1) the cellular anatomical entity where a gene product carries out a molecular function (e.g., plasma membrane, cytoskeleton) or membrane-enclosed compartments (e.g., mitochondrion); (2) virion components, where viral proteins act, and (3) the stable macromolecular complexes of which gene product are parts (e.g., the clathrin complex). https://github.com/geneontology/go-ontology/issues/17729 GO:0008372 NIF_Subcellular:sao1337158144 cell or subcellular entity cellular component cellular_component subcellular entity GO:0005575 Note that, in addition to forming the root of the cellular component ontology, this term is recommended for the annotation of gene products whose cellular component is unknown. When this term is used for annotation, it indicates that no information was available about the cellular component of the gene product annotated as of the date the annotation was made; the evidence code 'no data' (ND), is used to indicate this. Note that, in addition to forming the root of the cellular component ontology, this term is recommended for use for the annotation of gene products whose cellular component is unknown. When this term is used for annotation, it indicates that no information was available about the cellular component of the gene product annotated as of the date the annotation was made; the evidence code 'no data' (ND), is used to indicate this. cellular_component The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. Wikipedia:Extracellular extracellular cellular_component GO:0005576 Note that this term is intended to annotate gene products that are not attached to the cell surface. For gene products from multicellular organisms which are secreted from a cell but retained within the organism (i.e. released into the interstitial fluid or blood), consider the cellular component term 'extracellular space ; GO:0005615'. extracellular region A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds. fibrinogen fibrinogen alpha chain fibrinogen beta chain fibrinogen gamma chain cellular_component GO:0005577 fibrinogen complex true A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. Wikipedia:Collagen cellular_component GO:0005581 collagen trimer A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes. Wikipedia:Collagen_type_IV cellular_component GO:0005587 collagen type IV trimer A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. GO:0005605 GO:0008003 Wikipedia:Basement_membrane cellular_component basal lamina basement lamina lamina densa GO:0005604 Note that this term has no relationship to 'membrane ; GO:0016020' because the basement membrane is not a lipid bilayer. basement membrane That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. NIF_Subcellular:sao1425028079 cellular_component intercellular space GO:0005615 Note that for multicellular organisms, the extracellular space refers to everything outside a cell, but still within the organism (excluding the extracellular matrix). Gene products from a multi-cellular organism that are secreted from a cell into the interstitial fluid or blood can therefore be annotated to this term. extracellular space A component of a cell contained within (but not including) the plasma membrane. In eukaryotes it includes the nucleus and cytoplasm. https://github.com/geneontology/go-ontology/issues/17776 Wikipedia:Intracellular internal to cell intracellular protoplasm cellular_component nucleocytoplasm protoplast GO:0005622 intracellular anatomical structure A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. NIF_Subcellular:sao1702920020 Wikipedia:Cell_nucleus cell nucleus horsetail nucleus cellular_component GO:0005634 nucleus A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. Wikipedia:Chromosome interphase chromosome prophase chromosome cellular_component chromatid GO:0005694 Chromosomes include parts that are not part of the chromatin. Examples include the kinetochore. chromosome A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. NIF_Subcellular:sao1820400233 Wikipedia:Nucleolus cellular_component GO:0005730 nucleolus All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. https://github.com/geneontology/go-ontology/issues/23023 Wikipedia:Cytoplasm cellular_component GO:0005737 cytoplasm A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. mitochondria mitochondrion A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. NIF_Subcellular:sao585356902 Wikipedia:Lysosome cellular_component GO:0005764 lysosome A lysosome before it has fused with a vesicle or vacuole. NIF_Subcellular:sao1140587416 cellular_component GO:0005766 primary lysosome A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. Wikipedia:Vacuole cellular_component vacuolar carboxypeptidase Y GO:0005773 vacuole The volume enclosed within the vacuolar membrane. cellular_component GO:0005775 vacuolar lumen A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. peroxisome vesicle peroxisomal peroxisome A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. Golgi NIF_Subcellular:sao451912436 Wikipedia:Golgi_apparatus Golgi complex Golgi ribbon cellular_component GO:0005794 Note that the Golgi apparatus can be located in various places in the cytoplasm. In plants and lower animal cells, the Golgi apparatus exists as many copies of discrete stacks dispersed throughout the cytoplasm, while the Golgi apparatus of interphase mammalian cells is a juxtanuclear, often pericentriolar reticulum, where the discrete Golgi stacks are stitched together to form a compact and interconnected ribbon, sometimes called the Golgi ribbon. Golgi apparatus Any vesicle associated with the Golgi complex and involved in mediating transport within the Golgi or between the Golgi and other parts of the cell. NIF_Subcellular:sao819927218 cellular_component Golgi vesicle vesicular component GO:0005798 Note that this definition includes vesicles that are transiently associated with the Golgi. Golgi-associated vesicle The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. NIF_Subcellular:sao101633890 Wikipedia:Cytosol cellular_component GO:0005829 cytosol An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. GO:0033279 NIF_Subcellular:sao1429207766 Wikipedia:Ribosome free ribosome membrane bound ribosome cellular_component ribosomal RNA GO:0005840 ribosome A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. Wikipedia:Cytoskeleton cellular_component GO:0005856 cytoskeleton Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. NIF_Subcellular:sao1846835077 Wikipedia:Microtubule microtubuli microtubulus neurotubule cellular_component GO:0005874 microtubule A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. FMA:63850 NIF_Subcellular:sao1588493326 Wikipedia:Actin microfilament cellular_component GO:0005884 actin filament The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. GO:0005887 GO:0005904 juxtamembrane NIF_Subcellular:sao1663586795 Wikipedia:Cell_membrane cell membrane cellular membrane cytoplasmic membrane plasmalemma bacterial inner membrane inner endospore membrane integral component of plasma membrane integral to plasma membrane plasma membrane lipid bilayer cellular_component GO:0005886 plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. integral to plasma membrane cellular_component GO:0005887 integral component of plasma membrane Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. NIF_Subcellular:sao671419673 Wikipedia:Microvillus cellular_component microvilli GO:0005902 Note that this term refers to a projection from a single cell, and should not be confused with 'microvillus' as used to refer to a multicellular structure such as that found in the placenta. microvillus The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. Wikipedia:Brush_border cellular_component GO:0005903 brush border A cell junction that forms a connection between two or more cells in a multicellular organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. https://github.com/geneontology/go-ontology/issues/22122 cell-cell contact region cell-cell contact zone NIF_Subcellular:sao1922892319 intercellular junction cellular_component GO:0005911 cell-cell junction A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. GO:0072372 FMA:67181 NIF_Subcellular:sao787716553 Wikipedia:Cilium eukaryotic flagellum microtubule-based flagellum primary cilium cellular_component flagellum GO:0005929 Note that we deem cilium and microtubule-based flagellum to be equivalent. In most eukaryotic species, intracellular sub-components of the cilium, such as the ciliary base and rootlet, are located near the plasma membrane. In Diplomonads such as Giardia, instead, the same ciliary parts are located further intracellularly. Also, 'cilium' may be used when axonemal structure and/or motility are unknown, or when axonemal structure is unusual. For all other cases, please refer to children of 'cilium'. Finally, note that any role of ciliary proteins in sensory events should be captured by annotating to relevant biological process terms. cilium The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. GO:0035085 GO:0035086 Wikipedia:Axoneme ciliary axoneme cilium axoneme flagellar axoneme flagellum axoneme cellular_component GO:0005930 Note that cilia and eukaryotic flagella are deemed to be equivalent. In diplomonad species, such as Giardia, the axoneme may extend intracellularly up to 5um away from the plane of the plasma membrane. axoneme The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. carbohydrate metabolism multicellular organismal carbohydrate metabolic process single-organism carbohydrate metabolic process carbohydrate metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. polysaccharide metabolism glycan metabolic process glycan metabolism multicellular organismal polysaccharide metabolic process polysaccharide metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. glycogen metabolism glycogen metabolic process The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. monosaccharide metabolism monosaccharide metabolic process The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. fructose metabolism fructose metabolic process The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. cellular glucose metabolic process glucose metabolism glucose metabolic process The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. galactose metabolism galactose metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. alcohol metabolism alcohol metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell. cellular glucan metabolism cellular glucan metabolic process The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. organic acid metabolism organic acid metabolic process The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. energy pathways intermediary metabolism metabolic energy generation generation of precursor metabolites and energy The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. energy reserve metabolism energy reserve metabolic process The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. respiratory-chain phosphorylation oxidative phosphorylation Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. GO:0055134 cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism nucleobase, nucleoside, nucleotide and nucleic acid metabolism biological_process nucleobase, nucleoside and nucleotide metabolic process nucleobase, nucleoside, nucleotide and nucleic acid metabolic process GO:0006139 nucleobase-containing compound metabolic process The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. purine base metabolic process purine base metabolism purine metabolic process purine metabolism purine nucleobase metabolic process The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. purine nucleotide metabolism purine metabolic process purine metabolism purine nucleotide metabolic process The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. purine nucleotide anabolism purine nucleotide biosynthesis purine nucleotide formation purine nucleotide synthesis purine nucleotide biosynthetic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. GO:0055132 DNA metabolism cellular DNA metabolism biological_process GO:0006259 DNA metabolic process The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. DNA repair Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. biological_process GO:0006310 DNA recombination Any process in which DNA and associated proteins are formed into a compact, orderly structure. DNA condensation DNA organisation DNA organization DNA packaging The cellular synthesis of RNA on a template of DNA. GO:0006350 GO:0061018 GO:0061022 cellular transcription transcription Wikipedia:Transcription_(genetics) DNA-dependent transcription cellular transcription, DNA-dependent transcription, DNA-dependent biological_process transcription regulator activity GO:0006351 transcription, DNA-templated Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. GO:0032583 GO:0045449 GO:0061019 transcriptional control regulation of cellular transcription, DNA-dependent regulation of transcription, DNA-dependent biological_process regulation of gene-specific transcription GO:0006355 regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. GO:0006358 GO:0010551 regulation of transcription from Pol II promoter regulation of transcription from RNA polymerase II promoter biological_process global transcription regulation from Pol II promoter regulation of gene-specific transcription from RNA polymerase II promoter regulation of global transcription from Pol II promoter regulation of transcription from RNA polymerase II promoter, global GO:0006357 regulation of transcription by RNA polymerase II The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). https://github.com/geneontology/go-ontology/issues/14854 GO:0032568 GO:0032569 transcription from Pol II promoter transcription from RNA polymerase II promoter biological_process RNA polymerase II transcription factor activity gene-specific transcription from RNA polymerase II promoter general transcription from RNA polymerase II promoter specific transcription from RNA polymerase II promoter GO:0006366 transcription by RNA polymerase II The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. GO:0006416 GO:0006453 GO:0043037 Wikipedia:Translation_(genetics) protein anabolism protein biosynthesis protein biosynthetic process protein formation protein synthesis protein translation biological_process GO:0006412 translation The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. GO:0006440 GO:0006454 biopolymerisation biopolymerization protein synthesis initiation translation initiation biological_process GO:0006413 translational initiation The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. GO:0006442 GO:0006455 protein synthesis elongation translation elongation biological_process GO:0006414 translational elongation The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). GO:0006443 GO:0006456 protein synthesis termination translation termination translational complex disassembly biological_process GO:0006415 translational termination The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). protein modification process biological_process process resulting in protein modification protein tagging activity GO:0006464 cellular protein modification process The process of introducing a phosphate group on to a protein. protein amino acid phosphorylation biological_process GO:0006468 protein phosphorylation A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. protein amino acid glycosylation protein-carbohydrate complex assembly protein glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. protein amino acid N-linked glycosylation N-glycan biosynthesis N-glycan metabolism protein N-linked glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. protein amino acid O-linked glycosylation protein O-linked glycosylation The covalent attachment of lipid groups to an amino acid in a protein. lipid:protein modification protein amino acid lipidation protein lipidation The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. GPI/GSI anchor metabolic process GPI/GSI anchor metabolism GPI anchor metabolism glycosylphosphatidylinositol metabolic process glycosylphosphatidylinositol metabolism GPI anchor metabolic process The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. GPI/GSI anchor biosynthesis GPI/GSI anchor biosynthetic process GPI anchor anabolism GPI anchor biosynthesis GPI anchor formation GPI anchor synthesis glycosylphosphatidylinositol biosynthesis glycosylphosphatidylinositol biosynthetic process GPI anchor biosynthetic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. peptide metabolism GO:0006518 peptide metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. amino acid and derivative metabolism amino acid metabolic process cellular amino acid and derivative metabolic process cellular amino acid metabolism cellular amino acid metabolic process The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. tyrosine metabolism tyrosine metabolic process The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. tyrosine breakdown tyrosine catabolism tyrosine degradation tyrosine catabolic process The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. Wikipedia:Lipid_metabolism lipid metabolism biological_process GO:0006629 lipid metabolic process The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. membrane lipid metabolism membrane lipid metabolic process The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. phospholipid metabolism biological_process GO:0006644 phospholipid metabolic process The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. GO:0006652 glycerophospholipid metabolism phosphoglyceride metabolic process phosphoglyceride metabolism biological_process alpha-glycerophosphate pathway GO:0006650 glycerophospholipid metabolic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. PtdIns biosynthesis PtdIns biosynthetic process phosphatidylinositol anabolism phosphatidylinositol biosynthesis phosphatidylinositol formation phosphatidylinositol synthesis phosphoinositide biosynthesis phosphoinositide biosynthetic process phosphatidylinositol biosynthetic process The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. glycolipid metabolism glycolipid metabolic process The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). sphingolipid metabolism sphingolipid metabolic process The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. steroid anabolism steroid biosynthesis steroid formation steroid synthesis steroidogenesis steroid biosynthetic process The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. cholesterol anabolism cholesterol biosynthesis cholesterol formation cholesterol synthesis cholesterol biosynthetic process The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. aromatic compound metabolism aromatic hydrocarbon metabolic process aromatic hydrocarbon metabolism biological_process GO:0006725 cellular aromatic compound metabolic process The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme. coenzyme Q metabolic process coenzyme Q metabolism ubiquinone metabolism ubiquinone metabolic process The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. coenzyme Q biosynthesis coenzyme Q biosynthetic process ubiquinone anabolism ubiquinone biosynthesis ubiquinone formation ubiquinone synthesis coenzyme Q10 biosynthesis coenzyme Q10 biosynthetic process coenzyme Q6 biosynthesis coenzyme Q6 biosynthetic process coenzyme Q8 biosynthesis coenzyme Q8 biosynthetic process coenzyme Q9 biosynthesis coenzyme Q9 biosynthetic process ubiquinone biosynthetic process The chemical reactions and pathways involving any phosphorylated nucleoside. nucleoside phosphate metabolism nucleoside phosphate metabolic process The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. ATP anabolism ATP biosynthesis ATP formation ATP synthesis ATP regeneration ATP biosynthetic process The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. vitamin metabolism vitamin metabolic process The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. water-soluble vitamin metabolism water-soluble vitamin metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. porphyrin metabolic process porphyrin metabolism porphyrin-containing compound metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. sulfur metabolism sulphur metabolic process sulphur metabolism sulfur compound metabolic process The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). phosphorus metabolism biological_process GO:0006793 phosphorus metabolic process The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. phosphate metabolism biological_process phosphate metabolic process GO:0006796 phosphate-containing compound metabolic process The chemical reactions and pathways involving superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species. oxygen free radical metabolic process oxygen free radical metabolism superoxide free radical metabolic process superoxide free radical metabolism superoxide metabolism biological_process GO:0006801 superoxide metabolic process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. https://github.com/geneontology/go-ontology/issues/26424 nitrogen compound metabolism biological_process GO:0006807 nitrogen compound metabolic process The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or a transporter complex, a pore or a motor protein. The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein. https://github.com/geneontology/go-ontology/issues/20292 jl 2012-12-13T16:25:32Z GO:0015457 GO:0015460 GO:0044765 small molecule transport solute:solute exchange biological_process single-organism transport GO:0006810 Note that this term should not be used for direct annotation. It should be possible to make a more specific annotation to one of the children of this term, for e.g. to transmembrane transport, to microtubule-based transport or to vesicle-mediated transport. transport The directed movement of a monoatomic ion into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. ion transport biological_process GO:0006811 ion transport monoatomic ion transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. GO:0006819 GO:0015674 GO:0072512 di-, tri-valent inorganic cation transport trivalent inorganic cation transport biological_process GO:0006812 cation transport The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. GO:0006834 GO:0016974 sodium/potassium transport sodium transport mitochondrial sodium/calcium ion exchange sodium:calcium exchange sodium:solute transport biological_process sodium channel auxiliary protein activity GO:0006814 sodium ion transport The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. GO:0006822 biological_process GO:0006820 anion transport The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. biological_process GO:0006821 chloride transport The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. biological_process GO:0006833 water transport The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. sodium:dicarboxylate transport dicarboxylic acid transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. serotonin transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. amino acid transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. lipid transport Any process involved in the maintenance of an internal steady state of ions at the level of a cell. biological_process GO:0006873 cellular ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. cellular heavy metal ion homeostasis cellular metal ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. copper homeostasis cellular copper ion homeostasis Any process involved in maintaining the steady state of a cell's volume. The cell's volume refers to the three-dimensional space occupied by a cell. regulation of cell volume biological_process GO:0006884 cell volume homeostasis Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. hydrogen ion homeostasis biological_process GO:0006885 regulation of pH A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. GO:0016194 GO:0016195 Wikipedia:Exocytosis vesicle exocytosis biological_process nonselective vesicle exocytosis GO:0006887 exocytosis A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a part of the plasma membrane to form a new membrane-bounded vesicle. A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. https://github.com/geneontology/go-ontology/issues/24907 https://github.com/geneontology/go-ontology/issues/25268 GO:0016193 GO:0016196 GO:0098701 Wikipedia:Endocytosis endocytic import into cell vesicle endocytosis plasma membrane invagination biological_process nonselective vesicle endocytosis GO:0006897 endocytosis An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. Wikipedia:Receptor-mediated_endocytosis receptor mediated endocytosis biological_process GO:0006898 receptor-mediated endocytosis The evagination of a membrane, resulting in formation of a vesicle. jl 2013-12-19T15:26:17Z GO:0006902 GO:1902591 membrane evagination vesicle biosynthesis vesicle formation biological_process nonselective vesicle assembly single organism membrane budding single-organism membrane budding vesicle budding GO:0006900 vesicle budding from membrane The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. biological_process GO:0006903 vesicle targeting Fusion of the membrane of a transport vesicle with its target membrane. biological_process GO:0006906 vesicle fusion A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. https://github.com/geneontology/go-ontology/issues/24907 Wikipedia:Phagocytosis biological_process GO:0006909 phagocytosis A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. GO:0006917 GO:0008632 cell suicide cellular suicide Wikipedia:Apoptosis apoptotic cell death apoptotic programmed cell death programmed cell death by apoptosis activation of apoptosis apoptosis apoptosis signaling apoptotic program type I programmed cell death biological_process apoptosis activator activity caspase-dependent programmed cell death commitment to apoptosis induction of apoptosis induction of apoptosis by p53 signaling (initiator) caspase activity GO:0006915 apoptotic process The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. cellular component disassembly involved in apoptotic process disassembly of cell structures cellular component disassembly involved in apoptosis biological_process GO:0006921 cellular component disassembly involved in execution phase of apoptosis The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. cellular component motion cellular component movement biological_process cell movement GO:0006928 Note that in GO cellular components include whole cells (cell is_a cellular component). movement of cell or subcellular component The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). Wikipedia:Chemotaxis taxis in response to chemical stimulus biological_process GO:0006935 chemotaxis 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. Wikipedia:Muscle_contraction biological_process GO:0006936 muscle contraction Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). biological_process response to abiotic stress response to biotic stress GO:0006950 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 QC. response to stress Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. GO:0002217 GO:0042829 defence response physiological defense response biological_process antimicrobial peptide activity defense/immunity protein activity GO:0006952 defense response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. inflammation Wikipedia:Inflammation biological_process GO:0006954 inflammatory response Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. biological_process GO:0006955 immune response Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. complement cascade complement response complement activity complement activation An immune response mediated through a body fluid. humoral immune response Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. response to DNA damage stimulus DNA damage response cellular DNA damage response response to genotoxic stress cellular response to DNA damage stimulus A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. jl 2013-12-19T15:25:51Z GO:1902589 organelle organisation single organism organelle organization biological_process organelle organization and biogenesis single-organism organelle organization GO:0006996 organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. mitochondria organization mitochondrion organisation mitochondrion organization and biogenesis mitochondrion organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. cytoskeleton organisation biological_process cytoskeletal organization and biogenesis cytoskeletal regulator activity cytoskeleton organization and biogenesis GO:0007010 cytoskeleton organization Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. https://github.com/geneontology/go-ontology/issues/19809 biological_process GO:0007017 microtubule-based process A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. biological_process GO:0007018 microtubule-based movement The directed movement of substances into, out of or within a vacuole. vacuolar transport The directed movement of substances into, out of or within a lysosome. lysosomal transport The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. Wikipedia:Cell_cycle cell-division cycle biological_process GO:0007049 cell cycle A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. Wikipedia:Mitosis#Endomitosis biological_process endomitosis GO:0007113 Note that this term should not be confused with 'abortive mitotic cell cycle ; GO:0033277'. Although abortive mitosis is sometimes called endomitosis, GO:0033277 refers to a process in which a mitotic spindle forms and chromosome separation begins. endomitotic cell cycle Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. Wikipedia:Cell_signaling biological_process GO:0007154 cell communication The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. dos 2014-04-15T15:59:10Z GO:0098602 Wikipedia:Cell_adhesion biological_process cell adhesion molecule activity single organism cell adhesion GO:0007155 cell adhesion The attachment of an adhesion molecule in one cell to a nonidentical adhesion molecule in an adjacent cell. biological_process agglutination GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules The attachment of a leukocyte to another cell via adhesion molecules. leukocyte adhesion leukocyte cell adhesion biological_process GO:0007159 leukocyte cell-cell adhesion 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:0023014 GO:0023015 GO:0023016 GO:0023033 GO:0023045 Wikipedia:Signal_transduction signal transduction by cis-phosphorylation signal transduction by conformational transition signal transduction by protein phosphorylation signal transduction by trans-phosphorylation 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 initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. cell surface receptor linked signal transduction cell surface receptor linked signaling pathway cell surface receptor linked signalling pathway biological_process GO:0007166 cell surface receptor signaling pathway Any series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell, where the receptor possesses catalytic activity or is closely associated with an enzyme such as a protein kinase, and ending with regulation of a downstream cellular process, e.g. transcription. enzyme linked receptor protein signalling pathway biological_process GO:0007167 enzyme linked receptor protein signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with regulation of a downstream cellular process, e.g. transcription. transmembrane receptor protein tyrosine kinase signalling pathway biological_process GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes 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, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. GO:0038042 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 Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. small GTPase-mediated signal transduction small GTPase mediated signal transduction A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. Ras mediated signal transduction Ras protein signal transduction Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. cell-cell signalling biological_process GO:0007267 cell-cell signaling The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. signal transmission across a synapse synaptic transmission Wikipedia:Neurotransmission biological_process neurotransmission GO:0007268 chemical synaptic transmission The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). https://github.com/geneontology/go-ontology/issues/21234 biological_process GO:0007275 Note that this term was 'developmental process'. multicellular organism development The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. GO:0009552 biological_process gametogenesis GO:0007276 gamete generation A complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. Wikipedia:Gastrulation biological_process GO:0007369 gastrulation The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. biological_process GO:0007398 ectoderm development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. biological_process pan-neural process GO:0007399 nervous system development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. sense organ development sensory organ development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. biological_process GO:0007492 endoderm development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. biological_process GO:0007498 mesoderm development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. GO:0007511 Wikipedia:Heart_development dorsal vessel development biological_process cardiac development GO:0007507 heart development The establishment of the sex of an organism by physical differentiation. sex differentiation The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. gestation carrying of young female pregnancy Attachment of the blastocyst to the uterine lining. blastocyst implantation embryo implantation A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). ageing aging The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. breathing respiration biological_process GO:0007585 respiratory gaseous exchange by respiratory system The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. Wikipedia:Digestion biological_process GO:0007586 digestion The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. https://github.com/geneontology/go-ontology/issues/22368 Wikipedia:Excretion biological_process GO:0007588 excretion The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. blood clotting blood coagulation The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. hemostasis The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. sensory perception The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. hearing perception of sound sensory perception of sound The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. GO:0070261 biological_process hemolymph circulation GO:0008015 blood circulation The function that stimulates a cell to grow or proliferate. Most growth factors have other actions besides the induction of cell growth or proliferation. molecular_function GO:0008083 Also consider annotating to 'receptor agonist activity ; GO:0048018'. growth factor activity Any process in which a protein is transported to, or maintained in, a specific location. https://github.com/geneontology/go-ontology/issues/23112 GO:0008105 GO:0016249 GO:0034613 cellular protein localisation cellular protein localization protein localisation channel localizer activity biological_process asymmetric protein localisation asymmetric protein localization establishment and maintenance of asymmetric protein localization establishment and maintenance of protein localization GO:0008104 protein localization A biological process is the execution of a genetically-encoded biological module or program. It consists of all the steps required to achieve the specific biological objective of the module. 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. 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. https://github.com/geneontology/go-ontology/issues/24968 jl 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 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. 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 The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. jl 2012-10-17T15:46:40Z GO:0044236 GO:0044710 Wikipedia:Metabolism metabolism metabolic process resulting in cell growth metabolism resulting in cell growth multicellular organism metabolic process biological_process single-organism metabolic process GO:0008152 Note that metabolic processes do not include single functions or processes such as protein-protein interactions, protein-nucleic acids, nor receptor-ligand interactions. metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. steroid metabolism steroid metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. cholesterol metabolism cholesterol metabolic process Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. Wikipedia:Blood_pressure#Regulation blood pressure regulation biological_process blood pressure homeostasis control of blood pressure GO:0008217 regulation of blood pressure Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). https://github.com/geneontology/go-ontology/issues/24680 biological_process accidental cell death necrosis GO:0008219 This term should not be used for direct annotation, it is currently kept in GO as a placeholder for describing cell death phenotypes in uPHENO. When information is provided on a programmed cell death mechanism, annotations should be made to the appropriate descendant of 'cell death' (such as, but not limited to, GO:0097300 'programmed necrotic cell death' or GO:0006915 'apoptotic process'). Unintentional cell death, i.e. cell death caused by injury, ageing, or cell phenotypes observed as a result of a pathological mutation in an essential gene should NOT be annotated using GO terms. cell death The multiplication or reproduction of cells, resulting in the expansion of a cell population. biological_process cell proliferation GO:0008283 This term was moved out from being a child of 'cellular process' because it is a cell population-level process, and cellular processes are restricted to those processes that involve individual cells. Also note that this term is intended to be used for the proliferation of cells within a multicellular organism, not for the expansion of a population of single-celled organisms. cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. down regulation of cell proliferation down-regulation of cell proliferation downregulation of cell proliferation inhibition of cell proliferation biological_process negative regulation of cell proliferation GO:0008285 negative regulation of cell population proliferation The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. DNA bending activity DNA bending involving DNA binding DNA binding, bending Any process that modulates the size of a cell. cell size control biological_process GO:0008361 regulation of cell size Enables the transfer of a negatively charged ion from one side of a membrane to the other. Reactome:R-HSA-166214 anion transporter activity molecular_function GO:0008509 anion transmembrane transporter activity The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. lipid anabolism lipid biosynthesis lipid formation lipid synthesis lipogenesis lipid biosynthetic process The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y. GO:0006861 GO:0008644 sugar transport biological_process GO:0008643 carbohydrate transport The process in which hexose is transported across a membrane. Hexoses are any aldoses with a chain of six carbon atoms in the molecule. high-affinity hexose transport low-affinity hexose transport hexose membrane transport hexose transport hexose transmembrane transport The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester. phospholipid anabolism phospholipid biosynthesis phospholipid formation phospholipid synthesis phospholipid biosynthetic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. breakdown catabolism degradation multicellular organismal catabolic process single-organism catabolic process catabolic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. jl 2012-10-17T15:52:18Z GO:0044274 GO:0044711 formation Wikipedia:Anabolism anabolism biosynthesis synthesis multicellular organismal biosynthetic process biological_process single-organism biosynthetic process GO:0009058 biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. https://github.com/geneontology/go-ontology/issues/15249 https://github.com/geneontology/go-ontology/issues/25418 GO:0043284 biopolymer biosynthetic process macromolecule anabolism macromolecule biosynthesis macromolecule formation macromolecule synthesis biological_process GO:0009059 macromolecule biosynthetic process The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). aromatic amino acid family metabolism aromatic amino acid family metabolic process The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). aromatic amino acid family breakdown aromatic amino acid family catabolism aromatic amino acid family degradation aromatic amino acid family catabolic process The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. glycoprotein metabolism glycoprotein metabolic process The chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. glycoprotein anabolism glycoprotein biosynthesis glycoprotein formation glycoprotein synthesis glycoprotein biosynthetic process The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. nucleobase metabolism nucleobase metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). nucleotide metabolism nucleotide metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. nucleoside triphosphate metabolism nucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. nucleoside triphosphate anabolism nucleoside triphosphate biosynthesis nucleoside triphosphate formation nucleoside triphosphate synthesis nucleoside triphosphate biosynthetic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. purine nucleoside triphosphate metabolism purine nucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. purine nucleoside triphosphate anabolism purine nucleoside triphosphate biosynthesis purine nucleoside triphosphate formation purine nucleoside triphosphate synthesis purine nucleoside triphosphate biosynthetic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. purine ribonucleotide metabolism purine ribonucleotide metabolic process The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. purine ribonucleotide anabolism purine ribonucleotide biosynthesis purine ribonucleotide formation purine ribonucleotide synthesis purine ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). nucleotide anabolism nucleotide biosynthesis nucleotide formation nucleotide synthesis nucleotide biosynthetic process The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. ribonucleoside triphosphate metabolism ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. ribonucleoside triphosphate anabolism ribonucleoside triphosphate biosynthesis ribonucleoside triphosphate formation ribonucleoside triphosphate synthesis ribonucleoside triphosphate biosynthetic process The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. purine ribonucleoside triphosphate metabolism purine ribonucleoside triphosphate metabolic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. purine ribonucleoside triphosphate anabolism purine ribonucleoside triphosphate biosynthesis purine ribonucleoside triphosphate formation purine ribonucleoside triphosphate synthesis purine ribonucleoside triphosphate biosynthetic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. cobalamin metabolism vitamin B12 metabolic process vitamin B12 metabolism vitamin B12 reduction cobalamin metabolic process The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). glycolipid anabolism glycolipid biosynthesis glycolipid formation glycolipid synthesis glycolipid biosynthetic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. ribonucleotide metabolism ribonucleotide metabolic process The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. ribonucleotide anabolism ribonucleotide biosynthesis ribonucleotide formation ribonucleotide synthesis ribonucleotide biosynthetic process The controlled release of proteins from a cell. GO:0045166 GO:0045731 glycoprotein secretion protein secretion during cell fate commitment protein secretion resulting in cell fate commitment biological_process GO:0009306 protein secretion The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. oligosaccharide metabolism multicellular organismal oligosaccharide metabolic process oligosaccharide metabolic process The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). https://github.com/geneontology/go-ontology/issues/20176 Wikipedia:Fertilisation syngamy biological_process GO:0009566 fertilization Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. response to environmental stimulus biological_process GO:0009605 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 QC. response to external stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. response to biotic stress biological_process GO:0009607 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 QC. response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. GO:0002245 physiological response to wounding biological_process GO:0009611 response to wounding Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. response to viruses biological_process GO:0009615 response to virus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. GO:0009618 GO:0009680 response to bacteria biological_process GO:0009617 response to bacterium Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. https://github.com/geneontology/go-ontology/issues/16572 response to abiotic stress biological_process GO:0009628 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 QC. response to abiotic stimulus The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. embryogenesis and morphogenesis Wikipedia:Morphogenesis anatomical structure organization morphogenesis biological_process GO:0009653 anatomical structure morphogenesis Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. response to hormone stimulus growth regulator response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. response to carbohydrate stimulus biological_process GO:0009743 response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. response to hexose stimulus biological_process GO:0009746 response to hexose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. response to glucose stimulus biological_process GO:0009749 response to glucose The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. GO:0009795 embryogenesis and morphogenesis Wikipedia:Embryogenesis embryogenesis embryonal development biological_process GO:0009790 embryo development The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. biological_process GO:0009791 post-embryonic development The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. embryogenesis biological_process GO:0009792 embryo development ending in birth or egg hatching Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. histogenesis and organogenesis animal organ morphogenesis The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. histogenesis and organogenesis Wikipedia:Histogenesis histogenesis biological_process GO:0009888 tissue development Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. regulation of anabolism regulation of biosynthesis regulation of formation regulation of synthesis biological_process GO:0009889 regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. positive regulation of anabolism positive regulation of biosynthesis positive regulation of formation positive regulation of synthesis up regulation of biosynthetic process up-regulation of biosynthetic process upregulation of biosynthetic process activation of biosynthetic process stimulation of biosynthetic process biological_process GO:0009891 positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. GO:0044253 positive regulation of metabolism up regulation of metabolic process up-regulation of metabolic process upregulation of metabolic process activation of metabolic process positive regulation of multicellular organismal metabolic process positive regulation of organismal metabolism stimulation of metabolic process stimulation of organismal metabolic process up-regulation of organismal metabolic process biological_process GO:0009893 positive regulation of metabolic process The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. juxtamembrane external leaflet of plasma membrane outer surface of cytoplasmic membrane cellular_component GO:0009897 external side of plasma membrane The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. biological_process GO:0009914 hormone transport The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. cellular_component GO:0009925 basal plasma membrane Any process that modulates the frequency, rate or extent of signal transduction. GO:0035466 biological_process regulation of signaling pathway regulation of signalling pathway GO:0009966 regulation of signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction. GO:0035468 up regulation of signal transduction up-regulation of signal transduction upregulation of signal transduction activation of signal transduction stimulation of signal transduction biological_process positive regulation of signaling pathway positive regulation of signalling pathway GO:0009967 positive regulation of signal transduction The external part of the cell wall and/or plasma membrane. GO:0009928 GO:0009929 cell associated cell bound cellular_component GO:0009986 Note that this term is intended to annotate gene products that are attached (integrated or loosely bound) to the plasma membrane or cell wall. cell surface 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. jl 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 This term should not be used for direct annotation. It should be possible to make a more specific annotation to one of the children of this term. cellular process Any process involved in the maintenance of an internal steady state of water within a cell. biological_process cellular osmoregulation GO:0009992 cellular water homeostasis Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. GO:1990367 process resulting in tolerance to organic substance biological_process GO:0010033 response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. response to organic nitrogen biological_process GO:0010243 response to organonitrogen compound The infolding of a membrane. jl 2013-12-02T13:58:34Z GO:1902534 biological_process single-organism membrane invagination GO:0010324 membrane invagination The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, as well as translation and maturation for protein-coding genes. The process in which a gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. https://github.com/geneontology/go-ontology/issues/22557 https://github.com/geneontology/go-ontology/issues/25419 Wikipedia:Gene_expression biological_process GO:0010467 gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. Wikipedia:Regulation_of_gene_expression regulation of protein expression biological_process regulation of gene product expression GO:0010468 This class covers any process that regulates the rate of production of a mature gene product, and so includes processes that regulate that rate by regulating the level, stability or availability of intermediates in the process of gene expression. For example, it covers any process that regulates the level, stability or availability of mRNA or circRNA for translation and thereby regulates the rate of production of the encoded protein via translation. regulation of gene expression Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. biological_process GO:0010556 regulation of macromolecule biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. biological_process GO:0010557 positive regulation of macromolecule biosynthetic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. biological_process GO:0010562 positive regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. biological_process GO:0010604 positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. biological_process GO:0010628 positive regulation of gene expression Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. biological_process GO:0010646 regulation of cell communication Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. biological_process GO:0010647 positive regulation of cell communication Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. biological_process GO:0010817 regulation of hormone levels Any process in which a lipid is transported to, or maintained in, a specific location. lipid localisation lipid localization The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. tb 2009-05-27T10:56:08Z microtubule-based transport establishment of localization by movement along microtubule movement along microtubule biological_process GO:0010970 transport along microtubule A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. https://github.com/geneontology/go-ontology/issues/24835 GO:0016244 regulated cell death Wikipedia:Programmed_cell_death caspase-independent cell death non-apoptotic programmed cell death nonapoptotic programmed cell death biological_process PCD RCD caspase-independent apoptosis GO:0012501 Note that this term should be used to annotate gene products in the organism undergoing the programmed cell death. To annotate genes in another organism whose products modulate programmed cell death in a host organism, consider the term 'modulation by symbiont of host programmed cell death ; GO:0052040'. Also, note that 'programmed cell death ; GO:0012501' should be used to refer to instances of caspase-independent cell death mechanisms, in the absence of further indications on the process taking place. At present, caspase-independent cell death is not yet represented in GO due to the lack of consensus and in-depth research on the topic. 'programmed cell death ; GO:0012501' may also be used to annotate gene products in taxa where apoptosis as defined in GO:0006915 does not occur, such as plants. You may also consider these specific children: GO:0097468 'programmed cell death in response to reactive oxygen species' (with descendants GO:0010421 'hydrogen peroxide-mediated programmed cell death' and GO:0010343 'singlet oxygen-mediated programmed cell death'), and GO:0009626 'plant-type hypersensitive response' and its children. programmed cell death A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. Wikipedia:Endomembrane_system cellular_component GO:0012505 endomembrane system The lipid bilayer surrounding any membrane-bounded vesicle in the cell. NIF_Subcellular:sao1153182838 cellular_component GO:0012506 vesicle membrane The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. mesenchymal cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. neural crest cell development The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. neural crest cell differentiation A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. PI 3-kinase cascade PI3K cascade PI3K signal transduction PI3K signaling phosphatidylinositol 3-kinase signal transduction phosphoinositide 3-kinase cascade biological_process phosphatidylinositol 3-kinase cascade GO:0014065 phosphatidylinositol 3-kinase signaling Any process that modulates the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. regulation of PI3K cascade regulation of phosphoinositide 3-kinase cascade biological_process regulation of PI 3-kinase cascade regulation of phosphatidylinositol 3-kinase cascade GO:0014066 regulation of phosphatidylinositol 3-kinase signaling Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. positive regulation of PI 3-kinase cascade positive regulation of PI3K cascade positive regulation of phosphoinositide 3-kinase cascade up regulation of phosphatidylinositol 3-kinase cascade up-regulation of phosphatidylinositol 3-kinase cascade upregulation of phosphatidylinositol 3-kinase cascade activation of phosphoinositide 3-kinase cascade stimulation of phosphatidylinositol 3-kinase cascade biological_process positive regulation of phosphatidylinositol 3-kinase cascade GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. response to organic cyclic substance biological_process GO:0014070 response to organic cyclic compound The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. GO:0015831 enzyme transport biological_process GO:0015031 protein transport Enables the transfer of an ion from one side of a membrane to the other. ion transporter activity molecular_function GO:0015075 ion transmembrane transporter activity Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. molecular_function GO:0015103 inorganic anion transmembrane transporter activity Enables the transfer of carbohydrate from one side of a membrane to the other. GO:1901476 sugar transporter molecular_function carbohydrate transporter activity GO:0015144 carbohydrate transmembrane transporter activity Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. glucose-6-phosphate transmembrane transporter activity Enables the transfer of a polyol from one side of a membrane to the other. A polyol is any polyhydric alcohol. Reactome:R-HSA-429571 sugar/polyol channel activity molecular_function GO:0015166 polyol transmembrane transporter activity Enables the transfer of glycerol from one side of a membrane to the other. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. molecular_function GO:0015168 glycerol transmembrane transporter activity Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. amino acid transporter activity amino acid permease activity amino acid/choline transmembrane transporter activity general amino acid permease activity hydroxy/aromatic amino acid permease activity amino acid transmembrane transporter activity Enables the transfer of urea from one side of a membrane to the other. Urea is the water soluble compound H2N-CO-NH2. GO:0015287 urea transporter activity RHEA:32799 Reactome:R-HSA-444126 molecular_function GO:0015204 urea transmembrane transporter activity Transport systems of this type enable facilitated diffusion of water (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. RHEA:29667 Reactome:R-HSA-432010 Reactome:R-HSA-432054 Reactome:R-HSA-432065 Reactome:R-HSA-432067 Reactome:R-HSA-445714 Reactome:R-HSA-507868 Reactome:R-HSA-507870 aquaporin molecular_function GO:0015250 water channel activity Enables the facilitated diffusion of glycerol (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. RHEA:29675 Reactome:R-HSA-432049 Reactome:R-HSA-432074 Reactome:R-HSA-507869 Reactome:R-HSA-507871 molecular_function GO:0015254 glycerol channel activity Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. GO:0015249 GO:0015268 GO:0022838 pore activity RHEA:29447 Reactome:R-HSA-3779381 Reactome:R-HSA-8953430 TC:1 channel/pore class transporter activity nonselective channel activity molecular_function alpha-type channel activity channel-forming toxin activity pore class transporter activity substrate-specific channel activity GO:0015267 channel activity Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. GO:0015290 GO:0015353 GO:0015404 GO:0015570 active transporter Reactome:R-HSA-199216 TC:2.A coupled carrier electrochemical potential-driven transporter activity porter activity porters secondary carrier-type facilitators energizer of outer membrane receptor-mediated transport activity heavy metal ion porter activity ion-gradient-driven energizer activity multidrug endosomal transmembrane transporter activity nitrite/nitrate porter activity molecular_function galactose/glucose (methylgalactoside) porter activity GO:0015291 secondary active transmembrane transporter activity Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out). GO:0015300 GO:0099516 exchanger porter Reactome:R-HSA-2730692 Reactome:R-HSA-2730959 Reactome:R-HSA-2731002 countertransporter activity exchange transporter activity solute:solute antiporter activity ion antiporter activity molecular_function antiport solute:solute exchange GO:0015297 antiporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion A(out) + anion B(in) = anion A(in) + anion B(out). GO:0015380 GO:0015384 Reactome:R-HSA-561041 anion exchanger activity bicarbonate:chloride antiporter molecular_function GO:0015301 anion:anion antiporter activity Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. https://github.com/geneontology/go-ontology/issues/14372 inorganic solute uptake transmembrane transporter activity inorganic uptake permease activity molecular_function GO:0015318 inorganic molecular entity transmembrane transporter activity The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. cellular_component GO:0015629 actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. cellular_component GO:0015630 microtubule cytoskeleton The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. biological_process GO:0015669 gas transport The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. biological_process GO:0015671 oxygen transport The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. magnesium transport magnesium ion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. biological_process GO:0015698 inorganic anion transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. biological_process GO:0015701 bicarbonate transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. biological_process GO:0015711 organic anion transport The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. hexose phosphate transport The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. bilirubin transport The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. organophosphate ester transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. monosaccharide transport monosaccharide transmembrane transport The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. glucose-6-phosphate transport The directed movement of polyols, any polyhydric alcohol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. biological_process GO:0015791 polyol transport The directed movement of glycerol into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glycerol is 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. biological_process GO:0015793 glycerol transport The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. neutral amino acid transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. peptide transport The directed movement of urea into, out of or within the cell. Urea is the water-soluble compound H2N-CO-NH2. biological_process GO:0015840 urea transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. monoamine transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. organic acid transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. organic alcohol transport biological_process GO:0015850 organic hydroxy compound transport Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. galactosidase activity The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. chemoorganotrophy energy derivation by oxidation of organic compounds The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. energy coupled proton transport, down electrochemical gradient The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. chemiosmosis ATP synthesis coupled proton transport A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. 2014-03-06T11:37:54Z GO:0016021 GO:0098589 GO:0098805 Wikipedia:Biological_membrane Wikipedia:Transmembrane_protein integral component of membrane integral to membrane membrane region region of membrane whole membrane cellular_component transmembrane GO:0016020 membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. Wikipedia:Transmembrane_protein integral to membrane cellular_component transmembrane GO:0016021 integral component of membrane The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. lipid breakdown lipid catabolism lipid degradation lipolysis multicellular organism lipid catabolic process multicellular organismal lipid catabolic process lipid catabolic process A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. GO:0044235 GO:0071842 cell organisation cellular component organisation at cellular level cellular component organisation in other organism cellular component organization at cellular level cellular component organization in other organism biological_process cell organization and biogenesis GO:0016043 cellular component organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. vesicle organisation biological_process vesicle organization and biogenesis GO:0016050 vesicle organization The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. organic acid breakdown organic acid catabolism organic acid degradation organic acid catabolic process An immune response mediated by immunoglobulins, whether cell-bound or in solution. antibody-mediated immune response biological_process GO:0016064 immunoglobulin mediated immune response The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. RNA metabolism biological_process GO:0016070 RNA metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. sterol metabolism sterol metabolic process The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. sterol anabolism sterol biosynthesis sterol formation sterol synthesis sterol biosynthetic process A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. https://github.com/geneontology/go-ontology/issues/25421 GO:0006899 vesicle transport vesicular transport nonselective vesicle transport biological_process protein sorting along secretory pathway vesicle trafficking GO:0016192 vesicle-mediated transport Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. Reactome:R-HSA-6788855 Reactome:R-HSA-6788867 phosphokinase activity molecular_function GO:0016301 Note that this term encompasses all activities that transfer a single phosphate group; although ATP is by far the most common phosphate donor, reactions using other phosphate donors are included in this term. kinase activity The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. Wikipedia:Phosphorylation biological_process GO:0016310 phosphorylation The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. dephosphorylation The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. cellular_component GO:0016323 basolateral plasma membrane The region of the plasma membrane located at the apical end of the cell. cellular_component GO:0016324 apical plasma membrane The process in which the anatomical structures of embryonic epithelia are generated and organized. biological_process GO:0016331 morphogenesis of embryonic epithelium Recombination occurring within or between DNA molecules in somatic cells. biological_process GO:0016444 somatic cell DNA recombination The somatic process that results in the generation of sequence diversity of immunoglobulins. somatic diversification of antibodies biological_process GO:0016445 somatic diversification of immunoglobulins The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. somatic recombination of antibody gene segments biological_process GO:0016447 somatic recombination of immunoglobulin gene segments The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. https://github.com/geneontology/go-ontology/issues/24787 Wikipedia:Cell_migration biological_process GO:0016477 cell migration Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. biological_process peptidolysis during protein maturation GO:0016485 protein processing Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. redox activity oxidoreductase activity, acting on other substrates oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. oxidoreductase activity, acting on the CH-CH group of donors, other acceptors oxidoreductase activity, acting on the CH-CH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. EC:2.-.-.- Reactome:R-HSA-1483089 Reactome:R-HSA-1483186 Reactome:R-HSA-5668414 Reactome:R-HSA-8868783 molecular_function GO:0016740 transferase activity Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). EC:2.7.-.- molecular_function GO:0016772 Note that this term encompasses all kinase activities, as well as activities that transfer other phosphorus-containing groups such as diphosphate or nucleotides. transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). EC:2.7.1.- Reactome:R-HSA-2161193 molecular_function GO:0016773 phosphotransferase activity, alcohol group as acceptor Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). diphosphotransferase activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. EC:3.-.-.- Reactome:R-HSA-1236938 Reactome:R-HSA-2029475 Reactome:R-HSA-5694583 Reactome:R-HSA-5695964 Reactome:R-HSA-6786190 Reactome:R-HSA-6788295 Reactome:R-HSA-8938314 Reactome:R-HSA-8952137 GO:0016787 hydrolase activity Catalysis of the hydrolysis of any ester bond. EC:3.1.-.- Reactome:R-HSA-162729 Reactome:R-HSA-9023617 Reactome:R-HSA-9023619 Reactome:R-HSA-9749609 esterase activity GO:0016788 hydrolase activity, acting on ester bonds Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. https://github.com/geneontology/go-ontology/issues/25755 GO:0003869 GO:0016302 EC:3.1.3.- Reactome:R-HSA-4419986 Reactome:R-HSA-9636457 phosphoric monoester hydrolase activity 4-nitrophenylphosphatase activity 4-nitrophenylphosphate phosphohydrolase activity K-pNPPase activity NPPase activity PNPPase activity ecto-p-nitrophenyl phosphatase activity nitrophenyl phosphatase activity p-nitrophenylphosphatase activity p-nitrophenylphosphate phosphohydrolase activity para-nitrophenyl phosphatase activity phosphatase GO:0016791 phosphatase activity Catalysis of the hydrolysis of any glycosyl bond. glycosidase activity N-glycosylase glycosylase hydrolase activity, acting on glycosyl bonds The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. stem cell renewal biological_process GO:0017145 stem cell division The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. RESID:AA0039 biological_process GO:0018108 peptidyl-tyrosine phosphorylation The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). heterocycle anabolism heterocycle biosynthesis heterocycle formation heterocycle synthesis biological_process GO:0018130 heterocycle biosynthetic process The alteration of an amino acid residue in a peptide. biological_process GO:0018193 peptidyl-amino acid modification The modification of peptidyl-tyrosine. biological_process GO:0018212 peptidyl-tyrosine modification The modification of a protein amino acid by phosphopantetheinylation. protein amino acid phosphopantetheinylation biological_process GO:0018215 protein phosphopantetheinylation Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: a protein + ATP = a phosphoprotein + ADP. Reactome:R-HSA-8983059 Reactome:R-HSA-8983063 molecular_function GO:0019199 transmembrane receptor protein kinase activity Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. carbohydrate phosphatase activity Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. regulation of lipid metabolism biological_process GO:0019216 regulation of lipid metabolic process Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism biological_process regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process GO:0019219 regulation of nucleobase-containing compound metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. regulation of phosphate metabolism biological_process GO:0019220 regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. GO:0044246 regulation of metabolism regulation of multicellular organismal metabolic process regulation of organismal metabolic process biological_process GO:0019222 regulation of metabolic process The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. conduction of nerve impulse signal transmission along a neuron biological_process GO:0019226 transmission of nerve impulse The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. hexose metabolism hexose metabolic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. aromatic compound anabolism aromatic compound biosynthesis aromatic compound formation aromatic compound synthesis aromatic hydrocarbon biosynthesis aromatic hydrocarbon biosynthetic process biological_process GO:0019438 aromatic compound biosynthetic process The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. aromatic compound breakdown aromatic compound catabolism aromatic compound degradation aromatic hydrocarbon catabolic process aromatic hydrocarbon catabolism aromatic compound catabolic process The chemical reactions and pathways involving a protein. Includes protein modification. https://github.com/geneontology/go-ontology/issues/23112 GO:0006411 GO:0044267 GO:0044268 Wikipedia:Protein_metabolism cellular protein metabolic process cellular protein metabolism protein metabolic process and modification protein metabolism protein metabolism and modification multicellular organismal protein metabolic process biological_process GO:0019538 protein metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. organophosphate metabolism biological_process GO:0019637 organophosphate metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. ribose phosphate metabolism ribose phosphate metabolic process Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. B lymphocyte mediated immune effector process B lymphocyte mediated immunity B-cell mediated immune effector process B-cell mediated immunity B-lymphocyte mediated immune effector process B-lymphocyte mediated immunity biological_process GO:0019724 B cell mediated immunity Any process involved in the maintenance of an internal steady state at the level of the cell. biological_process GO:0019725 cellular homeostasis The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). carboxylic acid metabolism carboxylic acid metabolic process The directed movement of one-carbon compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. one carbon compound transport biological_process GO:0019755 one-carbon compound transport immunoglobulin complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. antibody cellular_component GO:0019814 Note that an immunoglobulin complex has the function of antigen binding if a suitable antigen is available. immunoglobulin complex B cell receptor complex An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. GO:0042570 B lymphocyte receptor complex B-cell receptor complex B-lymphocyte receptor complex BCR complex immunoglobulin complex, membrane bound cellular_component B cell receptor accessory molecule complex antibody GO:0019815 Note that an immunoglobulin complex has the function of antigen binding if a suitable antigen is available. B cell receptor complex The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. GO:0030333 Wikipedia:Antigen_presentation antigen presentation antigen processing biological_process GO:0019882 antigen processing and presentation The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. lipid retention retention of lipids sequestration of lipids storage of lipids lipid sequestering lipid sequestration sequestering of lipids sequestration of lipid lipid storage A type of reproduction that combines the genetic material of two gametes (such as a sperm or egg cell or fungal spores). The gametes have an haploid genome (with a single set of chromosomes, the product of a meiotic division) and combines with one another to produce a zygote (diploid). https://github.com/geneontology/go-ontology/issues/22929 Wikipedia:Sexual_reproduction biological_process GO:0019953 Note that gametes may come from two organisms or from a single organism in the case of self-fertilizing hermaphrodites, e.g. C. elegans, or self-fertilization in plants. Note also that sexual reproduction may be seen as the regular alternation, in the life cycle of haplontic, diplontic and diplohaplontic organisms, of meiosis and fertilization which provides for the production offspring. In diplontic organisms there is a life cycle in which the products of meiosis behave directly as gametes, fusing to form a zygote from which the diploid, or sexually reproductive polyploid, adult organism will develop. In diplohaplontic organisms a haploid phase (gametophyte) exists in the life cycle between meiosis and fertilization (e.g. higher plants, many algae and Fungi); the products of meiosis are spores that develop as haploid individuals from which haploid gametes develop to form a diploid zygote; diplohaplontic organisms show an alternation of haploid and diploid generations. In haplontic organisms meiosis occurs in the zygote, giving rise to four haploid cells (e.g. many algae and protozoa), only the zygote is diploid and this may form a resistant spore, tiding organisms over hard times. sexual reproduction A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. biological_process GO:0021700 developmental maturation The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. biological_process GO:0021915 neural tube development The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. biological_process GO:0022402 cell cycle process The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. biological_process GO:0022406 membrane docking Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. biological_process GO:0022407 regulation of cell-cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. up regulation of cell-cell adhesion up-regulation of cell-cell adhesion upregulation of cell-cell adhesion activation of cell-cell adhesion stimulation of cell-cell adhesion biological_process GO:0022409 positive regulation of cell-cell adhesion A cellular process that results in the breakdown of a cellular component. GO:0071845 cell structure disassembly cellular component disassembly at cellular level biological_process GO:0022411 cellular component disassembly 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. jl 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 Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. regulation of morphogenesis biological_process GO:0022603 regulation of anatomical structure morphogenesis The aggregation, arrangement and bonding together of a cellular component. GO:0071844 cell structure assembly cellular component assembly at cellular level biological_process GO:0022607 cellular component assembly The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. biological_process GO:0022610 biological adhesion A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. RNA-protein complex biogenesis ribonucleoprotein complex biogenesis and assembly biological_process GO:0022613 ribonucleoprotein complex biogenesis The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. RNA-protein complex assembly RNP complex assembly ribonucleoprotein complex assembly biological_process GO:0022618 protein-RNA complex assembly Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. GO:0022814 porters Reactome:R-HSA-429767 Wikipedia:Facilitated_diffusion uniporter activity z molecular_function facilitated diffusion GO:0022803 passive transmembrane transporter activity Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. active carrier activity carrier activity permease activity pump activity molecular_function GO:0022804 active transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction. molecular_function GO:0022853 active ion transmembrane transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. GO:0005386 GO:0015563 GO:0015646 GO:0022891 GO:0022892 Reactome:R-HSA-1236947 Reactome:R-HSA-429036 Reactome:R-HSA-5638209 Reactome:R-HSA-5671707 Reactome:R-HSA-6784434 Reactome:R-HSA-6784436 molecular_function substrate-specific transmembrane transporter activity substrate-specific transporter activity uptake permease activity uptake transmembrane transporter activity GO:0022857 transmembrane transporter activity Binding to a major histocompatibility complex class Ib molecules. 2010-02-16T09:30:50Z molecular_function GO:0023029 MHC class Ib protein binding Any process that modulates the frequency, rate or extent of a signaling process. 2010-02-16T09:30:50Z biological_process regulation of signaling process regulation of signalling process GO:0023051 regulation of signaling The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. jl 2010-02-16T09:30:50Z GO:0023046 GO:0044700 biological signaling signaling process signalling biological_process signalling process single organism signaling GO:0023052 Note that a signal is any variable property or parameter that serves to convey information, and may be a physical entity such as a gene product or small molecule, a photon, or a change in state such as movement or voltage change. signaling Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. 2010-02-16T09:30:50Z positive regulation of signalling process biological_process positive regulation of signaling process GO:0023056 positive regulation of signaling The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. 2010-02-16T09:30:50Z signal secretion biological_process GO:0023061 signal release The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. divalent metal ion transport heavy metal ion transport metal ion transport Any process involved in the maintenance of an internal steady state of cations at the level of a cell. biological_process GO:0030003 cellular cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations at the level of a cell. biological_process GO:0030004 cellular monovalent inorganic cation homeostasis Any cellular process that depends upon or alters the actin cytoskeleton, that part of the cytoskeleton comprising actin filaments and their associated proteins. biological_process microfilament-based process GO:0030029 actin filament-based process A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. https://github.com/geneontology/go-ontology/issues/26279 cell projection organisation biological_process cell projection organization and biogenesis cell surface structure organization and biogenesis GO:0030030 cell projection organization Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. formation of a cell surface projection biological_process cell projection biogenesis GO:0030031 cell projection assembly Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. https://github.com/geneontology/go-ontology/issues/19809 biological_process GO:0030048 actin filament-based movement A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. Wikipedia:Cell_junction cellular_component GO:0030054 cell junction The regulated release of a peptide hormone from a cell. peptide hormone secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. insulin secretion The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. https://github.com/geneontology/go-ontology/issues/22178 Wikipedia:Haematopoiesis blood cell biosynthesis blood cell formation haemopoiesis hematopoiesis biological_process GO:0030097 hemopoiesis The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. GO:0046650 lymphocyte cell differentiation lymphocytic blood cell differentiation biological_process lymphocyte development GO:0030098 Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. lymphocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. biological_process GO:0030099 myeloid cell differentiation Any process involved in the maintenance of an internal steady state of water within an organism or cell. GO:0018987 Wikipedia:Osmoregulation regulation of osmotic pressure biological_process osmoregulation GO:0030104 water homeostasis Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. NIF_Subcellular:sao885490876 constitutive secretory pathway transport vesicle Golgi to vacuole transport vesicle Golgi-vacuole transport vesicle cellular_component secretory vesicle GO:0030133 Note that the term 'secretory vesicle' is sometimes used in this sense, but can also mean 'secretory granule ; GO:0030141'. transport vesicle A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. secretory vesicle cellular_component GO:0030141 Note that the term 'secretory vesicle' is sometimes used in this sense, but can also mean 'transport vesicle ; GO:0030133'. secretory granule The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. https://github.com/geneontology/go-ontology/issues/24390 Wikipedia:Cellular_differentiation biological_process GO:0030154 cell differentiation Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. biological_process cell adhesion receptor regulator activity GO:0030155 regulation of cell adhesion The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. GO:0042115 B lymphocyte differentiation B-cell differentiation B-lymphocyte differentiation biological_process B cell development GO:0030183 Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. B cell differentiation A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. extracellular matrix organisation biological_process extracellular matrix organization and biogenesis GO:0030198 extracellular matrix organization The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. heparin metabolism biological_process heparan sulfate metabolic process GO:0030202 heparin metabolic process The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. heparin anabolism heparin biosynthesis heparin formation heparin synthesis biological_process heparan sulfate biosynthetic process GO:0030210 heparin biosynthetic process The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. GO:0042112 GO:0046652 T lymphocyte differentiation T-cell differentiation T-lymphocyte differentiation biological_process T cell development GO:0030217 Note that the term 'thymocyte differentiation' was merged into this term because thymocytes are T cells, and thus the term was essentially redundant. Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. T cell differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. Wikipedia:Erythropoiesis RBC differentiation erythrocyte cell differentiation erythropoiesis red blood cell differentiation biological_process GO:0030218 erythrocyte differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. megakaryocyte cell differentiation biological_process GO:0030219 megakaryocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. basophil cell differentiation biological_process GO:0030221 basophil differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. monocyte cell differentiation biological_process GO:0030224 monocyte differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. macrophage cell differentiation biological_process GO:0030225 macrophage differentiation The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. biological_process GO:0030258 lipid modification The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. GO:0000068 DNA condensation eukaryotic chromosome condensation nuclear chromosome condensation biological_process GO:0030261 chromosome condensation Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. apoptotic nuclear change biological_process GO:0030262 apoptotic nuclear changes The compaction of chromatin during apoptosis. Wikipedia:Pyknosis pyknosis biological_process GO:0030263 apoptotic chromosome condensation A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space. cellular_component GO:0030312 The outer membrane (of gram negative bacteria) or cell wall (of yeast or Gram positive bacteria) are defined as parts of this structure, see 'external encapsulating structure part'. external encapsulating structure The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. osteoclast cell differentiation biological_process GO:0030316 osteoclast differentiation The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. sperm motility sperm movement flagellated sperm movement sperm flagellum movement sperm flagellum movement involved in flagellated sperm motility sperm flagellum movement involved in flagellated sperm movement flagellated sperm motility The process whose specific outcome is the progression of the respiratory tube over time, from its formation to the mature structure. The respiratory tube is assumed to mean any tube in the respiratory tract. biological_process GO:0030323 respiratory tube development The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. biological_process GO:0030324 lung development Any process that modulates the frequency, rate or extent of cell migration. biological_process GO:0030334 regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration. up regulation of cell migration up-regulation of cell migration upregulation of cell migration activation of cell migration stimulation of cell migration biological_process GO:0030335 positive regulation of cell migration The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is changed. molecular_function GO:0030545 receptor regulator activity The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. receptor activator activity signalling receptor activator activity molecular_function GO:0030546 signaling receptor activator activity The movement of a leukocyte in response to an external stimulus. immune cell chemotaxis leucocyte chemotaxis biological_process GO:0030595 leukocyte chemotaxis Any process involved in the maintenance of an internal equilibrium of hydrogen ions (protons) within a cell or between a cell and its external environment. cellular hydrogen ion homeostasis proton homeostasis biological_process GO:0030641 regulation of cellular pH The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. biological_process GO:0030705 cytoskeleton-dependent intracellular transport Any chromosome other than a sex chromosome. autosome The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. granulocyte cell differentiation biological_process GO:0030851 granulocyte differentiation A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. intraflagellar transport complex intraflagellar transport particle cellular_component IFT complex GO:0030990 Note that we deem cilia and microtubule-based flagella to be equivalent. intraciliary transport particle A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. GO:0005578 NIF_Subcellular:nlx_subcell_20090513 Wikipedia:Extracellular_matrix proteinaceous extracellular matrix matrisome cellular_component GO:0031012 extracellular matrix A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. NIF_Subcellular:sao830981606 cellular_component intracellular membrane GO:0031090 organelle membrane A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). Wikipedia:Platelet_alpha-granule platelet alpha-granule cellular_component GO:0031091 platelet alpha granule The volume enclosed by the membrane of the platelet alpha granule. platelet alpha-granule lumen cellular_component GO:0031093 platelet alpha granule lumen A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). developmental induction A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. https://github.com/geneontology/go-ontology/issues/21139 https://github.com/geneontology/go-ontology/issues/21141 Wikipedia:Pseudopod pseudopod pseudopodial protrusion axopodium loboInOwlpodium reticulopodium cellular_component GO:0031143 pseudopodium The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. intrinsic to membrane cellular_component GO:0031224 Note that proteins intrinsic to membranes cannot be removed without disrupting the membrane, e.g. by detergent. intrinsic component of membrane The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. intrinsic to plasma membrane cellular_component GO:0031226 intrinsic component of plasma membrane The portion of the plasma membrane surrounding a plasma membrane bounded cell surface projection. cellular_component membrane extension membrane projection GO:0031253 cell projection membrane A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. pseudopodium organisation biological_process pseudopodium organization and biogenesis GO:0031268 pseudopodium organization The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the B- or T cell receptor to augment B- or T cell activation. lymphocyte co-stimulation biological_process GO:0031294 lymphocyte costimulation The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. T cell co-stimulation T lymphocyte costimulation T-cell co-stimulation T-cell costimulation T-lymphocyte costimulation biological_process GO:0031295 T cell costimulation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. regulation of cellular metabolism biological_process GO:0031323 regulation of cellular metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. positive regulation of cellular metabolism up regulation of cellular metabolic process up-regulation of cellular metabolic process upregulation of cellular metabolic process activation of cellular metabolic process stimulation of cellular metabolic process biological_process GO:0031325 positive regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. regulation of cellular anabolism regulation of cellular biosynthesis regulation of cellular formation regulation of cellular synthesis biological_process GO:0031326 regulation of cellular biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. positive regulation of cellular anabolism positive regulation of cellular biosynthesis positive regulation of cellular formation positive regulation of cellular synthesis up regulation of cellular biosynthetic process up-regulation of cellular biosynthetic process upregulation of cellular biosynthetic process activation of cellular biosynthetic process stimulation of cellular biosynthetic process biological_process GO:0031328 positive regulation of cellular biosynthetic process A vesicle found in the cytoplasm of a cell. GO:0016023 NIF_Subcellular:sao180601769 cellular_component cytoplasmic membrane bounded vesicle cytoplasmic membrane-enclosed vesicle cytoplasmic, membrane-bounded vesicle GO:0031410 cytoplasmic vesicle A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. https://github.com/geneontology/go-ontology/issues/22021 GO:0034629 establishment and maintenance of protein complex localization protein complex localisation biological_process cellular protein complex localisation cellular protein complex localization cellular protein-containing complex localization establishment and maintenance of cellular protein complex localization protein complex localization GO:0031503 protein-containing complex localization The portion of the plasma membrane surrounding the brush border. cellular_component GO:0031526 brush border membrane The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. cellular_component GO:0031974 membrane-enclosed lumen The volume enclosed by the nuclear inner membrane. cellular_component GO:0031981 nuclear lumen Any small, fluid-filled, spherical organelle enclosed by membrane. GO:0031988 NIF_Subcellular:sao221389602 Wikipedia:Vesicle_(biology) cellular_component membrane-bounded vesicle membrane-enclosed vesicle GO:0031982 vesicle The volume enclosed by the membrane or protein that forms a vesicle. NIF_Subcellular:sao797538226 cellular_component GO:0031983 vesicle lumen A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. Wikipedia:Bleb_(cell_biology) plasma membrane bleb cellular_component GO:0032059 bleb The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. blebbing membrane blebbing cell blebbing plasma membrane bleb assembly plasma membrane blebbing biological_process GO:0032060 bleb assembly Any process that modulates the frequency, rate or extent of a response to an external stimulus. biological_process GO:0032101 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 QC. regulation of response to external stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. up regulation of response to external stimulus up-regulation of response to external stimulus upregulation of response to external stimulus activation of response to external stimulus stimulation of response to external stimulus biological_process GO:0032103 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 QC. positive regulation of response to external stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. response to E2 stimulus response to estradiol stimulus biological_process GO:0032355 response to estradiol Combining with an MHC class Ib protein complex and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. Class Ib here refers to non-classical class I molecules, such as those of the CD1 or HLA-E gene families. molecular_function T cell receptor activity alpha-beta T cell receptor activity gamma-delta T cell receptor activity GO:0032394 Note that this term is intended for annotation of gene products that act as receptors for MHC class Ib protein complexes, not for components of the MHC class Ib protein complexes themselves. MHC class Ib receptor activity An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. GO:0000141 GO:0030482 cellular_component actin cable GO:0032432 actin filament bundle Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. response to endotoxin response to LPS biological_process GO:0032496 response to lipopolysaccharide Any biological process, occurring at the level of a multicellular organism, pertinent to its function. jl 2012-09-19T16:07:47Z GO:0044707 GO:0050874 organismal physiological process biological_process single-multicellular organism process GO:0032501 multicellular organismal process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. jl 2012-12-19T12:21:31Z GO:0044767 development biological_process single-organism developmental process GO:0032502 developmental process The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. biological_process GO:0032504 multicellular organism reproduction A process that modulates the size of a cellular component. biological_process GO:0032535 regulation of cellular component size The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. mitochondrial protein anabolism mitochondrial protein biosynthesis mitochondrial protein formation mitochondrial protein synthesis mitochondrial protein translation mitochondrial translation The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. GO:0042095 GO:0072643 IFNG production interferon-gamma production type II IFN production interferon-gamma biosynthetic process interferon-gamma secretion biological_process GO:0032609 type II interferon production The appearance of interleukin-1 beta due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. GO:0050702 GO:0050720 IL-1 beta production interleukin-1 beta biosynthetic process interleukin-1 beta secretion biological_process GO:0032611 interleukin-1 beta production The appearance of interleukin-1 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. GO:0042222 GO:0050701 IL-1 production interleukin-1 biosynthetic process interleukin-1 secretion biological_process GO:0032612 interleukin-1 production The appearance of interleukin-6 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. GO:0042226 GO:0072604 IL-6 production interleukin-6 biosynthetic process interleukin-6 secretion biological_process GO:0032635 interleukin-6 production The appearance of interleukin-8 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. GO:0042228 GO:0072606 IL-8 production interleukin-8 biosynthetic process interleukin-8 secretion biological_process GO:0032637 interleukin-8 production The appearance of tumor necrosis factor due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Tumor necrosis factor is an inflammatory cytokine produced by macrophages/monocytes during acute inflammation and which is responsible for a diverse range of signaling events within cells, leading to necrosis or apoptosis. sl 2015-06-15T22:59:26Z GO:0042533 GO:1990774 TNF production cachectin production TNF alpha biosynthesis TNF biosynthesis TNF biosynthetic process TNF-alpha biosynthesis TNF-alpha biosynthetic process tumor necrosis factor anabolism tumor necrosis factor biosynthesis tumor necrosis factor biosynthetic process tumor necrosis factor formation tumor necrosis factor secretion tumor necrosis factor synthesis biological_process TNF-alpha production Tnfa production tumor necrosis factor-alpha production GO:0032640 Note that this term refers only to the specific, original 'tumor necrosis factor' protein (TNF) and not other members of the tumor necrosis factor superfamily (those with the gene symbol root 'TNFSF'). That this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. tumor necrosis factor production The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. RNA anabolism RNA biosynthesis RNA formation RNA synthesis biological_process GO:0032774 Note that, in some cases, viral RNA replication and viral transcription from RNA actually refer to the same process, but may be called differently depending on the focus of a specific research study. RNA biosynthetic process All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. cellular_component GO:0032838 plasma membrane bounded cell projection cytoplasm Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. response to insulin stimulus response to insulin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. cellular response to insulin stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. cellular response to hormone stimulus Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. regulation of localisation biological_process GO:0032879 regulation of localization The controlled release of a substance by a cell. Wikipedia:Secretion cellular secretion biological_process GO:0032940 secretion by cell The expansion of a mononuclear cell population by cell division. A mononuclear cell is a leukocyte with a single non-segmented nucleus in the mature form. PBMC proliferation peripheral blood mononuclear cell proliferation biological_process GO:0032943 mononuclear cell proliferation Any process that modulates the frequency, rate or extent of mononuclear cell proliferation. regulation of PBMC proliferation regulation of peripheral blood mononuclear cell proliferation biological_process GO:0032944 regulation of mononuclear cell proliferation The disaggregation of a protein-containing macromolecular complex into its constituent components. https://github.com/geneontology/go-ontology/issues/22580 GO:0034623 GO:0043241 GO:0043624 protein complex disassembly biological_process cellular macromolecule complex disassembly cellular protein complex disassembly macromolecule complex disassembly GO:0032984 protein-containing complex disassembly protein-containing complex A ribosome is a protein complex. A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. protein complex GO:0043234 macromolecular complex macromolecule complex protein containing complex protein complex protein-protein complex cellular_component GO:0032991 A protein complex in this context is meant as a stable set of interacting proteins which can be co-purified by an acceptable method, and where the complex has been shown to exist as an isolated, functional unit in vivo. Acceptable experimental methods include stringent protein purification followed by detection of protein interaction. The following methods should be considered non-acceptable: simple immunoprecipitation, pull-down experiments from cell extracts without further purification, colocalization and 2-hybrid screening. Interactions that should not be captured as protein complexes include: 1) enzyme/substrate, receptor/ligand or any similar transient interactions, unless these are a critical part of the complex assembly or are required e.g. for the receptor to be functional; 2) proteins associated in a pull-down/co-immunoprecipitation assay with no functional link or any evidence that this is a defined biological entity rather than a loose-affinity complex; 3) any complex where the only evidence is based on genetic interaction data; 4) partial complexes, where some subunits (e.g. transmembrane ones) cannot be expressed as recombinant proteins and are excluded from experiments (in this case, independent evidence is necessary to find out the composition of the full complex, if known). Interactions that may be captured as protein complexes include: 1) enzyme/substrate or receptor/ligand if the complex can only assemble and become functional in the presence of both classes of subunits; 2) complexes where one of the members has not been shown to be physically linked to the other(s), but is a homologue of, and has the same functionality as, a protein that has been experimentally demonstrated to form a complex with the other member(s); 3) complexes whose existence is accepted based on localization and pharmacological studies, but for which experimental evidence is not yet available for the complex as a whole. protein-containing complex A macromolecular complex containing both protein and DNA molecules. DNA-protein complex cellular_component GO:0032993 Note that this term is intended to classify complexes that have DNA as one of the members of the complex, that is, the complex does not exist if DNA is not present. Protein complexes that interact with DNA e.g. transcription factor complexes should not be classified here. protein-DNA complex The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. tetrapyrrole metabolism tetrapyrrole metabolic process Any process in which a macromolecule is transported to, or maintained in, a specific location. macromolecule localisation biological_process GO:0033036 macromolecule localization The deposition or aggregation of coloring matter in a cell. cellular pigmentation The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). Wikipedia:V(D)J_recombination V(D)J joining V-D-J joining V-D-J recombination V-J joining V-J recombination biological_process GO:0033151 V(D)J recombination The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. immunoglobulin V(D)J joining immunoglobulin V-D-J joining immunoglobulin V-D-J recombination immunoglobulin V-J joining immunoglobulin V-J recombination biological_process GO:0033152 immunoglobulin V(D)J recombination A process in which a protein is transported to, or maintained in, a location within an organelle. protein localisation to organelle protein localization in organelle biological_process GO:0033365 protein localization to organelle A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. carbohydrate homeostasis Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). biological_process GO:0033554 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 QC. cellular response to stress Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. up regulation of kinase activity up-regulation of kinase activity upregulation of kinase activity kinase activator stimulation of kinase activity biological_process GO:0033674 positive regulation of kinase activity Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. biological_process GO:0033993 response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. response to cytokine stimulus biological_process GO:0034097 response to cytokine Any process of regulating the production and elimination of erythrocytes within an organism. RBC homeostasis red blood cell homeostasis biological_process GO:0034101 erythrocyte homeostasis The process in which a carbohydrate is transported across a membrane. carbohydrate membrane transport transmembrane carbohydrate transport biological_process GO:0034219 Note that this term is not intended for use in annotating lateral movement within membranes. carbohydrate transmembrane transport A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. A process in which an ion is transported across a membrane. GO:0099131 ion transmembrane transport ion membrane transport transmembrane ion transport ATP hydrolysis coupled ion transmembrane transport biological_process GO:0034220 Note that this term is not intended for use in annotating lateral movement within membranes. ion transmembrane transport monoatomic ion transmembrane transport Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. response to monosaccharide stimulus biological_process GO:0034284 response to monosaccharide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. response to TNF biological_process GO:0034612 response to tumor necrosis factor The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. https://github.com/geneontology/go-ontology/issues/26424 cellular nitrogen compound metabolism biological_process GO:0034641 cellular nitrogen compound metabolic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. GO:0034961 cellular biopolymer biosynthetic process cellular macromolecule anabolism cellular macromolecule biosynthesis cellular macromolecule formation cellular macromolecule synthesis biological_process GO:0034645 cellular macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. nucleobase, nucleoside, nucleotide and nucleic acid anabolism nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis nucleobase, nucleoside, nucleotide and nucleic acid formation nucleobase, nucleoside, nucleotide and nucleic acid synthesis biological_process GO:0034654 nucleobase-containing compound biosynthetic process The volume enclosed by the membrane of a secretory granule. cellular_component GO:0034774 secretory granule lumen Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol 3-phosphate. This reaction is the addition of a phosphate group to phosphatidylinositol or one of its phosphorylated derivatives at the 3' position of the inositol ring. Reactome:R-HSA-1433514 Reactome:R-HSA-2045911 Reactome:R-HSA-9028519 Reactome:R-HSA-9670433 Wikipedia:Phosphoinositide_3-kinase phosphoinositide 3-kinase activity molecular_function GO:0035004 phosphatidylinositol 3-kinase activity The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. GO:0035083 GO:0035084 ciliary axoneme assembly cilium axoneme assembly flagellar axoneme assembly flagellum axoneme assembly biological_process axoneme biogenesis cilium axoneme biogenesis GO:0035082 Note that cilia and eukaryotic flagella are deemed to be equivalent. axoneme assembly Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. tube lumen formation biological_process lumen formation in an anatomical structure GO:0035148 tube formation The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. biological_process GO:0035239 tube morphogenesis The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. biological_process GO:0035295 tube development An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. bf 2010-03-11T10:46:10Z pre-BCR cellular_component GO:0035369 Despite its name, the pre-BCR is not a receptor complex, as it appears to provide a low level of signal not dependent on a ligand, but rather simply on correct assembly of the complex as a measure for correct Ig heavy chain recombination and folding. A significant proportion of pre-BCR complexes fail to reach the cell surface, and in some cases may provide their signaling function from the trans-Golgi network or lysosome. pre-B cell receptor complex The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. bf 2010-05-14T01:14:37Z GO:0007242 GO:0007243 GO:0023013 GO:0023034 intracellular signaling chain intracellular protein kinase cascade intracellular signal transduction pathway protein kinase cascade signal transmission via intracellular cascade biological_process intracellular signaling cascade intracellular signaling pathway signal transduction via intracellular signaling cascade GO:0035556 intracellular signal transduction The directed movement of a protein to a specific location within the extracellular region. bf 2010-11-09T10:25:08Z establishment of protein localisation in extracellular region establishment of protein localization in extracellular region biological_process GO:0035592 establishment of protein localization to extracellular region A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. bf 2011-03-10T02:52:36Z sodium ion membrane transport biological_process GO:0035725 Note that this term is not intended for use in annotating lateral movement within membranes. sodium ion transmembrane transport The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. bf 2011-03-17T10:55:42Z intraflagellar transport Reactome:R-HSA-5620924.2 biological_process intraciliary transport involved in cilium morphogenesis intraflagellar transport involved in cilium morphogenesis GO:0035735 intraciliary transport involved in cilium assembly The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. insulin secretion involved in cellular response to glucose insulin secretion involved in cellular response to glucose stimulus A region of the cilium between the basal body and proximal segment that is characterized by Y-shaped assemblages that connect axonemal microtubules to the ciliary membrane. The ciliary transition zone appears to function as a gate that controls ciliary membrane composition and separates the cytosol from the ciliary plasm. bf 2011-05-25T03:09:58Z cilial transition zone cilium transition zone cellular_component connecting cilium GO:0035869 Depending on the species, this region may have a distinct geometrically shaped electron-dense structure within the axonemal lumen visible in electron microscopy images; most animals don't display this inner structure. The axoneme extends through the ciliary transition zone, but only consists of the outer doublets. The central pair, axonemal spokes, and dynein complexes are not found in this part of the ciliary shaft. Note that the connecting cilium of the photoreceptor cells is thought to be equivalent to the transition zone. ciliary transition zone The regulated release of any steroid that acts as a hormone into the circulatory system. steroid hormone secretion The regulated release of any corticosteroid hormone into the circulatory system. corticosteroid secretion corticosteroid hormone secretion The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. mineralocorticoid secretion The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. aldosterone secretion The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. glucocorticoid secretion The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. bf 2011-08-25T04:50:36Z endoderm cell differentiation biological_process GO:0035987 endodermal cell differentiation A specialized cell-cell junction found between the cells of the excretory system, which provides a barrier for filtration of blood or hemolymph. bf 2011-12-12T04:36:05Z cellular_component GO:0036056 filtration diaphragm A specialized cell-cell junction found between the interdigitating foot processes of the glomerular epithelium (the podocytes) in the vertebrate kidney, which is adapted for facilitating glomerular filtration. bf 2011-12-12T04:36:42Z cellular_component GO:0036057 slit diaphragm The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). bf 2012-04-26T01:47:12Z protein modification biological_process GO:0036211 protein modification process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. bf 2012-07-20T01:05:46Z response to lowered oxygen levels biological_process GO:0036293 This term should be used when a decrease in oxygen levels is not considered a stress response. For a hypoxic stress response, consider instead 'response to hypoxia ; GO:0001666'. response to decreased oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. bf 2012-07-20T01:08:40Z cellular response to lowered oxygen levels biological_process GO:0036294 This term should be used when a decrease in oxygen levels is not considered a stress response. For a hypoxic stress response, consider instead 'cellular response to hypoxia ; GO:0071456'. cellular response to decreased oxygen levels Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. bf 2011-08-01T02:45:27Z GO:0004872 GO:0019041 receptor activity receptor activity involved in signal transduction signalling receptor activity molecular_function GO:0038023 signaling receptor activity Self-propelled movement of a cell or organism from one location to another. biological_process GO:0040011 locomotion Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. biological_process GO:0040012 regulation of locomotion The first few specialized divisions of an activated animal egg. biological_process GO:0040016 embryonic cleavage Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. up regulation of locomotion up-regulation of locomotion upregulation of locomotion activation of locomotion stimulation of locomotion biological_process GO:0040017 positive regulation of locomotion The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. biological_process GO:0042044 fluid transport The series of events that restore integrity to a damaged tissue, following an injury. wound healing The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. GO:0035734 Wikipedia:Intraflagellar_transport intraflagellar transport intraflagellar transport involved in cilium organization intraflagellar transport involved in microtubule-based flagellum organisation biological_process IFT GO:0042073 Note that we deem cilium and microtubule-based flagellum to be equivalent. intraciliary transport An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. T-helper 2 type immune response Th2 immune response biological_process GO:0042092 type 2 immune response The expansion of a T cell population by cell division. Follows T cell activation. GO:0042111 T lymphocyte proliferation T-cell proliferation T-lymphocyte proliferation biological_process GO:0042098 T cell proliferation T cell receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. Wikipedia:T_cell_receptor T lymphocyte receptor complex T-cell receptor complex T-lymphocyte receptor complex TCR complex cellular_component TCR GO:0042101 T cell receptor complex A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. alpha-beta T lymphocyte receptor complex alpha-beta T-cell receptor complex alpha-beta T-lymphocyte receptor complex alpha-beta TCR complex cellular_component GO:0042105 alpha-beta T cell receptor complex The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. T lymphocyte activation T-cell activation T-lymphocyte activation biological_process GO:0042110 T cell activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. B lymphocyte activation B-cell activation B-lymphocyte activation biological_process GO:0042113 B cell activation Any process that modulates the frequency, rate or extent of cell proliferation. biological_process regulation of cell proliferation GO:0042127 regulation of cell population proliferation Any process that modulates the frequency, rate or extent of T cell proliferation. regulation of T lymphocyte proliferation regulation of T-cell proliferation regulation of T-lymphocyte proliferation biological_process GO:0042129 regulation of T cell proliferation The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. lipoprotein metabolism lipoprotein metabolic process The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. lipoprotein anabolism lipoprotein biosynthesis lipoprotein formation lipoprotein synthesis lipoprotein biosynthetic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. ketone metabolism cellular ketone metabolic process The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. ketone anabolism ketone biosynthesis ketone formation ketone synthesis ketone biosynthetic process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. response to chemical stimulus response to chemical substance biological_process GO:0042221 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 QC. response to chemical Binding to a major histocompatibility complex molecule; a set of molecules displayed on cell surfaces that are responsible for lymphocyte recognition and antigen presentation. major histocompatibility complex binding major histocompatibility complex ligand molecular_function GO:0042287 Note that this term does not include binding to the antigen peptide bound to the MHC protein, for this also annotate to 'peptide antigen binding ; GO:0042605' or one of its children. MHC protein binding Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. biological_process GO:0042325 regulation of phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. up regulation of phosphorylation up-regulation of phosphorylation upregulation of phosphorylation activation of phosphorylation stimulation of phosphorylation biological_process GO:0042327 positive regulation of phosphorylation The directed movement of a motile cell or organism in response to an external stimulus. Wikipedia:Taxis directed movement in response to stimulus biological_process GO:0042330 taxis Interacting selectively and non-covalently with any chemokine receptor. chemokine receptor ligand molecular_function GO:0042379 chemokine receptor binding Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. biological_process GO:0042391 regulation of membrane potential Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. GO:0017035 biological_process drug resistance drug susceptibility/resistance GO:0042493 response to drug The enzymatic generation of superoxide, the superoxide anion O2- (superoxide free radical), or any compound containing this species, by a cell in response to environmental stress, thereby mediating the activation of various stress-inducible signaling pathways. superoxide release biological_process GO:0042554 superoxide anion generation immunoglobulin complex, circulating An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. antibody antibody Wikipedia:Antibody antibody cellular_component GO:0042571 Note that an immunoglobulin complex has the function of antigen binding if a suitable antigen is available. immunoglobulin complex, circulating Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. GO:0042578 phosphoric ester hydrolase activity Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). microbody Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. primary granule cellular_component GO:0042582 azurophil granule Any biological process involved in the maintenance of an internal steady state. GO:0032844 GO:0032845 GO:0032846 homeostasis activation of homeostatic process inhibition of homeostatic process biological_process negative regulation of homeostatic process positive regulation of homeostatic process regulation of homeostatic process GO:0042592 homeostatic process Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. glucose homeostasis A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. cellular_component GO:0042611 MHC protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. cellular_component GO:0042613 MHC class II protein complex Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. GO:0009816 GO:0042830 defence response to bacteria defence response to bacterium defense response to bacteria defense response to bacterium, incompatible interaction resistance response to pathogenic bacteria resistance response to pathogenic bacterium biological_process antibacterial peptide activity GO:0042742 defense response to bacterium Interacting selectively and non-covalently with an identical protein or proteins. isoform-specific homophilic binding molecular_function protein homopolymerization GO:0042802 identical protein binding Interacting selectively and non-covalently with an identical protein to form a homodimer. dimerization activity molecular_function GO:0042803 protein homodimerization activity The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. biological_process GO:0042886 amide transport Enables the transfer of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, from one side of a membrane to the other. amine/amide/polyamine channel activity molecular_function GO:0042887 amide transmembrane transporter activity A prolongation or process extending from a cell, e.g. a flagellum or axon. cell process cellular process cellular projection cellular_component GO:0042995 cell projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. NIF_Subcellular:sao867568886 neuron process neuron protrusion neuronal cell projection neurite cellular_component nerve fiber GO:0043005 neuron projection The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. biological_process GO:0043009 chordate embryonic development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. camera-type eye development The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. Wikipedia:Dendritic_cell biological_process GO:0043011 myeloid dendritic cell differentiation The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. peptide anabolism peptide biosynthesis peptide formation peptide synthesis GO:0043043 peptide biosynthetic process A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. extracellular structure organisation extracellular structure organization and biogenesis biological_process GO:0043062 extracellular structure organization The nucleus of a germ cell, a reproductive cell in multicellular organisms. germ-cell nucleus cellular_component GO:0043073 germ cell nucleus Any process that activates or increases the activity of an enzyme. GO:0048554 positive regulation of enzyme activity up regulation of enzyme activity up-regulation of enzyme activity upregulation of enzyme activity activation of enzyme activity activation of metalloenzyme activity positive regulation of metalloenzyme activity stimulation of enzyme activity stimulation of metalloenzyme activity up regulation of metalloenzyme activity up-regulation of metalloenzyme activity upregulation of metalloenzyme activity biological_process GO:0043085 positive regulation of catalytic activity The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. https://github.com/geneontology/go-ontology/issues/26424 GO:0034960 GO:0043283 GO:0044259 biopolymer metabolic process macromolecule metabolism organismal macromolecule metabolism multicellular organismal macromolecule metabolic process biological_process GO:0043170 macromolecule metabolic process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. GO:0010237 response to amino acid stimulus biological_process GO:0043200 response to amino acid The volume enclosed within the lysosomal membrane. cellular_component GO:0043202 lysosomal lumen Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. biological_process GO:0043207 response to external biotic stimulus Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. NIF_Subcellular:sao1539965131 Wikipedia:Organelle cellular_component GO:0043226 organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. NIF_Subcellular:sao414196390 membrane-enclosed organelle cellular_component GO:0043227 membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. https://github.com/geneontology/go-ontology/issues/21881 NIF_Subcellular:sao1456184038 non-membrane-enclosed organelle cellular_component biological condensate GO:0043228 non-membrane-bounded organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. cellular_component GO:0043229 intracellular organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. cellular_component GO:0043230 extracellular organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. intracellular membrane-enclosed organelle cellular_component GO:0043231 intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. intracellular non-membrane-enclosed organelle cellular_component GO:0043232 intracellular non-membrane-bounded organelle The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. cellular_component GO:0043233 organelle lumen true Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. cellular_component GO:0043235 receptor complex Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. muscle fiber muscle fibre contractile fibre contractile fiber A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. pre-T lymphocyte receptor complex pre-T-cell receptor complex pre-T-lymphocyte receptor complex pre-TCR complex cellular_component GO:0043384 pre-T cell receptor complex Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). up regulation of DNA binding up-regulation of DNA binding upregulation of DNA binding activation of DNA binding stimulation of DNA binding biological_process GO:0043388 positive regulation of DNA binding The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. hydrocortisone secretion cortisol secretion Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. regulation of MAP kinase cascade regulation of MAP kinase kinase kinase cascade regulation of MAPKKK cascade regulation of mitogen activated protein kinase cascade regulation of mitogen activated protein kinase kinase kinase cascade regulation of mitogen-activated protein kinase cascade regulation of mitogen-activated protein kinase kinase kinase cascade biological_process GO:0043408 regulation of MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. positive regulation of MAP kinase cascade positive regulation of MAP kinase kinase kinase cascade positive regulation of MAPKKK cascade positive regulation of mitogen activated protein kinase kinase kinase cascade positive regulation of mitogen-activated protein kinase cascade positive regulation of mitogen-activated protein kinase kinase kinase cascade stimulation of MAPK cascade up regulation of MAPKKK cascade up-regulation of MAPK cascade up-regulation of MAPKKK cascade upregulation of MAPK cascade upregulation of MAPKKK cascade activation of MAPK cascade activation of MAPKKK cascade stimulation of MAPKKK cascade biological_process GO:0043410 positive regulation of MAPK cascade The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. biological_process GO:0043412 macromolecule modification The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. macromolecule glycosylation Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. response to peptide hormone stimulus response to polypeptide hormone stimulus response to peptide hormone The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). keto acid metabolic process keto acid metabolism ketoacid metabolic process ketoacid metabolism oxo acid metabolic process oxo acid metabolism oxoacid metabolism oxoacid metabolic process The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. pigmentation A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. AKT signal transduction AKT signaling AKT signalling cascade PKB signal transduction PKB signaling protein kinase B signal transduction biological_process AKT signaling cascade PKB signaling cascade PKB signalling cascade protein kinase B signaling cascade protein kinase B signalling cascade GO:0043491 protein kinase B signaling Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. biological_process GO:0043549 regulation of kinase activity Any process that modulates the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. biological_process GO:0043550 regulation of lipid kinase activity Any process that modulates the frequency, rate or extent of phosphatidylinositol 3-kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to an inositol lipid at the 3' position of the inositol ring. regulation of phosphoinositide 3-kinase activity biological_process GO:0043551 regulation of phosphatidylinositol 3-kinase activity Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. positive regulation of phosphoinositide 3-kinase activity up regulation of phosphatidylinositol 3-kinase activity up-regulation of phosphatidylinositol 3-kinase activity upregulation of phosphatidylinositol 3-kinase activity activation of phosphatidylinositol 3-kinase activity stimulation of phosphatidylinositol 3-kinase activity biological_process GO:0043552 positive regulation of phosphatidylinositol 3-kinase activity The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. amide metabolism cellular amide metabolic process GO:0043603 amide metabolic process cellular amide metabolic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. GO:0043604 amide biosynthetic process Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. https://github.com/geneontology/go-ontology/issues/22580 mah 2010-09-08T10:01:42Z GO:0034600 GO:0034621 GO:0071822 protein complex subunit organisation protein complex subunit organization biological_process cellular macromolecular complex organization cellular macromolecular complex subunit organisation cellular macromolecular complex subunit organization macromolecular complex organization macromolecular complex subunit organisation macromolecular complex subunit organization protein-containing complex subunit organization GO:0043933 protein-containing complex organization The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. glucan metabolism glucan metabolic process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. biological_process GO:0044057 regulation of system process A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. GO:0071843 cellular component biogenesis at cellular level biological_process GO:0044085 cellular component biogenesis Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. jl 2009-04-21T04:11:06Z biological_process GO:0044093 positive regulation of molecular function A ribonucleoprotein complex that contains aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). jl 2009-10-22T02:38:55Z translation initiation (ternary) complex Met-tRNA/eIF2.GTP ternary complex cellular_component GO:0044207 translation initiation ternary complex The chemical reactions and pathways by which individual cells transform chemical substances. cellular metabolism biological_process intermediary metabolism GO:0044237 This term should not be used for direct annotation. It should be possible to make a more specific annotation to one of the children of this term. cellular metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. https://github.com/geneontology/go-ontology/issues/26424 primary metabolism biological_process GO:0044238 primary metabolic process The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. cellular breakdown cellular catabolism cellular degradation cellular catabolic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. cellular anabolism cellular biosynthesis cellular formation cellular synthesis biological_process GO:0044249 cellular biosynthetic process The chemical reactions and pathways involving lipids, as carried out by individual cells. cellular lipid metabolism biological_process GO:0044255 cellular lipid metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. GO:0034960 cellular biopolymer metabolic process cellular macromolecule metabolism biological_process GO:0044260 cellular macromolecule metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. cellular carbohydrate metabolism main pathways of carbohydrate metabolic process main pathways of carbohydrate metabolism cellular carbohydrate metabolic process The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. cellular glycan metabolic process cellular glycan metabolism cellular polysaccharide metabolism cellular polysaccharide metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. cellular protein metabolism biological_process GO:0044267 cellular protein metabolic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. nitrogen compound anabolism nitrogen compound biosynthesis nitrogen compound formation nitrogen compound synthesis biological_process GO:0044271 cellular nitrogen compound biosynthetic process The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. small molecule metabolism small molecule metabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. small molecule catabolism small molecule catabolic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. small molecule biosynthesis small molecule biosynthetic process The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. cellular glucose import in response to insulin stimulus glucose import in response to insulin stimulus Any process evolved to enable an interaction with an organism of a different species. https://github.com/geneontology/go-ontology/issues/20191 interaction with another species interspecies interaction interspecies interaction between organisms interspecies interaction with other organisms biological_process GO:0044419 biological process involved in interspecies interaction between organisms A biological process that directly contributes to the process of producing new individuals, involving another organism. multi-organism reproductive process A multicellular organism process which involves another multicellular organism of the same or different species. multi-multicellular organism process A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. jl 2013-03-27T15:09:58Z microtubule-based flagellum organization biological_process GO:0044782 Note that we deem cilium and microtubule-based flagellum to be equivalent. cilium organization The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. glycerolipid anabolism glycerolipid biosynthesis glycerolipid formation glycerolipid synthesis glycerolipid biosynthetic process A process of exocytosis in which soluble proteins and other substances are initially stored in secretory vesicles for later release. It is found mainly in cells that are specialized for secreting products such as hormones, neurotransmitters, or digestive enzymes rapidly on demand. regulated secretory pathway biological_process GO:0045055 regulated exocytosis The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. Wikipedia:Thymocyte T lymphocyte selection T-cell selection T-lymphocyte selection biological_process GO:0045058 T cell selection Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. GO:0002226 Wikipedia:Innate_immune_system innate immunity nonspecific immune response biological_process GO:0045087 innate immune response Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. Wikipedia:Lipid_raft lipid raft cellular_component GEM domain glycolipid-enriched membrane domain GO:0045121 membrane raft The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. cell fate commitment Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. cell fate commitment, cell-cell signaling cell fate commitment, cell-cell signalling cell-cell signaling during in cell fate commitment cell-cell signaling resulting in cell fate commitment cell-cell signalling during cell fate commitment cell-cell signalling resulting in cell fate commitment cell-cell signalling involved in cell fate specification cell-cell signaling involved in cell fate commitment The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. apical region of cell cellular_component GO:0045177 apical part of cell The region of a cell situated near the base. For example, in a polarized epithelial cell, the basal surface rests on the basal lamina that separates the epithelium from other tissue. cellular_component GO:0045178 basal part of cell The directed movement of a protein to a specific location. establishment of protein localisation protein positioning protein recruitment biological_process GO:0045184 establishment of protein localization The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. Wikipedia:Immunoglobulin_class_switching class switch recombination class switching isotype switch recombination biological_process GO:0045190 Note that IgM and IgD can be coexpressed by B cells via an alternate splicing mechanism, but true recombinational isotype switching to IgD has been demonstrated as well. Note that this term is best used to annotate gene products which are involved in the mechanism of DNA recombination used in isotype switching, like the B cell specific Swap70 factor in the mouse, rather than gene products which promote isotype switching such as cytokines or co-stimulatory molecules, which should instead be annotated to 'regulation of isotype switching ; GO:0045191'. isotype switching The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. NIF_Subcellular:sao914572699 Wikipedia:Chemical_synapse synaptic junction mixed synapse cellular_component electrotonic synapse GO:0045202 synapse A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. external encapsulating structure organisation external encapsulating structure organization and biogenesis biological_process GO:0045229 external encapsulating structure organization A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. Wikipedia:Immunologic_activation immune cell activation leucocyte activation biological_process GO:0045321 leukocyte activation The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. Wikipedia:Bone_resorption biological_process GO:0045453 bone resorption Any process that modulates the frequency, rate or extent of T cell differentiation. regulation of T lymphocyte differentiation regulation of T-cell differentiation regulation of T-lymphocyte differentiation biological_process regulation of T cell development GO:0045580 Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. regulation of T cell differentiation Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. biological_process GO:0045595 regulation of cell differentiation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. biological_process regulation of lymphocyte development GO:0045619 Note that immunologists typically use the word 'development' to refer to cells of B or T cell lineages undergoing the process that GO describes as 'cell differentiation'. regulation of lymphocyte differentiation A phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. Wikipedia:Respiratory_burst metabolic burst oxidative burst biological_process GO:0045730 respiratory burst Any process that modulates the frequency, rate or extent of angiogenesis. biological_process GO:0045765 regulation of angiogenesis Any process that activates or increases angiogenesis. up regulation of angiogenesis up-regulation of angiogenesis upregulation of angiogenesis activation of angiogenesis stimulation of angiogenesis biological_process GO:0045766 positive regulation of angiogenesis Any process that activates or increases the frequency, rate or extent of cell adhesion. up regulation of cell adhesion up-regulation of cell adhesion upregulation of cell adhesion activation of cell adhesion stimulation of cell adhesion biological_process GO:0045785 positive regulation of cell adhesion Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. positive regulation of lipid metabolism up regulation of lipid metabolic process up-regulation of lipid metabolic process upregulation of lipid metabolic process activation of lipid metabolic process stimulation of lipid metabolic process biological_process GO:0045834 positive regulation of lipid metabolic process Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. GO:0043193 GO:0045941 GO:0061020 positive regulation of cellular transcription, DNA-dependent positive regulation of transcription, DNA-dependent up regulation of transcription, DNA-dependent up-regulation of transcription, DNA-dependent upregulation of transcription, DNA-dependent activation of transcription, DNA-dependent stimulation of gene-specific transcription stimulation of transcription, DNA-dependent biological_process activation of gene-specific transcription positive regulation of gene-specific transcription transcription activator activity up regulation of gene-specific transcription up-regulation of gene-specific transcription upregulation of gene-specific transcription GO:0045893 positive regulation of transcription, DNA-templated Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism up regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process up-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process upregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process activation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process stimulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process biological_process positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process GO:0045935 positive regulation of nucleobase-containing compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. positive regulation of phosphate metabolism up regulation of phosphate metabolic process up-regulation of phosphate metabolic process upregulation of phosphate metabolic process activation of phosphate metabolic process stimulation of phosphate metabolic process biological_process GO:0045937 positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. GO:0010552 GO:0045817 activation of transcription from RNA polymerase II promoter positive regulation of transcription from Pol II promoter positive regulation of transcription from RNA polymerase II promoter stimulation of transcription from RNA polymerase II promoter up regulation of transcription from RNA polymerase II promoter up-regulation of transcription from RNA polymerase II promoter upregulation of transcription from RNA polymerase II promoter stimulation of global transcription from RNA polymerase II promoter biological_process activation of global transcription from RNA polymerase II promoter positive regulation of gene-specific transcription from RNA polymerase II promoter positive regulation of global transcription from Pol II promoter positive regulation of transcription from RNA polymerase II promoter, global up regulation of global transcription from RNA polymerase II promoter up-regulation of global transcription from RNA polymerase II promoter upregulation of global transcription from RNA polymerase II promoter GO:0045944 positive regulation of transcription by RNA polymerase II The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. ATP metabolism ATP metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. xanthine metabolism xanthine metabolic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. alcohol anabolism alcohol biosynthesis alcohol formation alcohol synthesis alcohol biosynthetic process The directed movement of the hexose monosaccharide glucose into a cell or organelle. glucose uptake glucose import The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar. ribose phosphate anabolism ribose phosphate biosynthesis ribose phosphate formation ribose phosphate synthesis ribose phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane. membrane lipid anabolism membrane lipid biosynthesis membrane lipid formation membrane lipid synthesis membrane lipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. glycerophospholipid anabolism glycerophospholipid biosynthesis glycerophospholipid formation glycerophospholipid synthesis phosphoglyceride biosynthesis phosphoglyceride biosynthetic process glycerophospholipid biosynthetic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). heterocycle metabolism biological_process GO:0046483 heterocycle metabolic process The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis. glycerolipid metabolism biological_process GO:0046486 glycerolipid metabolic process The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. GO:0030384 PtdIns metabolic process PtdIns metabolism phosphatidylinositol metabolism phosphoinositide metabolic process phosphoinositide metabolism biological_process GO:0046488 phosphatidylinositol metabolic process A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. biological_process GO:0046649 lymphocyte activation The expansion of a lymphocyte population by cell division. biological_process GO:0046651 lymphocyte proliferation The controlled release of acid by a cell or a tissue. biological_process GO:0046717 acid secretion The process of introducing one or more phosphate groups into a lipid, any member of a group of substances soluble in lipid solvents but only sparingly soluble in aqueous solvents. biological_process GO:0046834 lipid phosphorylation The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. Wikipedia:Bone_remodeling bone remodelling biological_process GO:0046849 bone remodeling The process of introducing one or more phosphate groups into a phosphatidylinositol, any glycerophosphoinositol having one phosphatidyl group esterified to one of the hydroxy groups of inositol. GO:0046837 PIP biosynthesis PtdInsP biosynthesis phosphatidylinositol phosphate biosynthetic process phosphatidylinositol phosphate phosphorylation phosphoinositide phosphorylation biological_process GO:0046854 phosphatidylinositol phosphorylation The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. biological_process GO:0046879 hormone secretion The controlled release of a substance by a cell or a tissue. biological_process GO:0046903 secretion The directed movement of substances within a cell. jl 2013-12-18T14:04:50Z GO:1902582 biological_process single organism intracellular transport single-organism intracellular transport GO:0046907 intracellular transport Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. cellular transition metal ion homeostasis The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). carboxylic acid transport Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). carboxylic acid transmembrane transporter activity The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. molecular_function GO:0046983 protein dimerization activity Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. sterol Delta(7)-reductase activity 7-DHC reductase activity cholesterol:NADP+ delta7-oxidoreductase activity sterol delta7-reductase activity 7-dehydrocholesterol reductase activity The process in which an antigen-presenting cell expresses peptide antigen in association with an MHC protein complex on its cell surface, including proteolysis and transport steps for the peptide antigen both prior to and following assembly with the MHC protein complex. The peptide antigen is typically, but not always, processed from an endogenous or exogenous protein. antigen presentation, peptide antigen peptide antigen processing and presentation biological_process GO:0048002 antigen processing and presentation of peptide antigen Any series of molecular signals initiated by the binding of an extracellular ligand to a vascular endothelial growth factor receptor (VEGFR) located on the surface of the receiving cell, and ending with regulation of a downstream cellular process, e.g. transcription. VEGF receptor signaling pathway VEGF receptor signalling pathway VEGFR signaling pathway biological_process GO:0048010 In GO, a gene product with 'vascular endothelial growth factor-activated receptor activity ; GO:0005021' necessarily binds VEGF to transduce a signal. In contrast, the VEGFR refers to PR:000001971. To represent cross-talk between ligands and receptors, signaling pathways in GO are starting to be named after the receptor and/or the signal. GO:0048010 is for annotation of any pathway in which a ligand (VEGF or an alternative growth factor) binds and activates a VEGFR (PR:000001971). For annotation of signaling pathways where a VEGF binds to a cell surface receptor (VEGFR, PDGFR etc.), consider 'vascular endothelial growth factor signaling pathway ; GO:0038084'. vascular endothelial growth factor receptor signaling pathway A series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. inositol phospholipid-mediated signaling phosphatidylinositol-mediated signal transduction phosphatidylinositol-mediated signalling phosphoinositide-mediated signaling phosphoinositide-mediated signalling biological_process GO:0048015 phosphatidylinositol-mediated signaling A series of molecular signals in which a cell uses an inositol-containing lipid to convert a signal into a response. Inositol lipids include the phosphoinositides (phosphatidylinositol and its phosphorylated derivatives), ceramides containing inositol, and inositol glycolipids. inositol lipid-mediated signal transduction inositol lipid-mediated signalling inositol phospholipid-mediated signaling biological_process GO:0048017 inositol lipid-mediated signaling The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). https://github.com/geneontology/go-ontology/issues/14220 mah 2010-09-13T04:51:59Z GO:0071884 receptor agonist activity signaling molecule signaling receptor ligand activity vitamin D receptor activator activity molecular_function GO:0048018 receptor ligand activity The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. somatic stem cell renewal biological_process GO:0048103 somatic stem cell division The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. biological_process Golgi-derived vesicle transport GO:0048193 Golgi vesicle transport The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. Golgi vesicle targeting dictyosome vesicle targeting vesicle targeting, to, from or within dictyosome biological_process GO:0048199 vesicle targeting, to, from or within Golgi The creation of a single organelle from two or more organelles. biological_process GO:0048284 organelle fusion The creation of two or more organelles by division of one organelle. biological_process GO:0048285 organelle fission The process in which the anatomical structures of the mesoderm are generated and organized. biological_process GO:0048332 mesoderm morphogenesis The cellular developmental process in which a specific cell progresses from an immature to a mature state. Cell development start once cell commitment has taken place. The process whose specific outcome is the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. https://github.com/geneontology/go-ontology/issues/24390 biological_process terminal differentiation GO:0048468 cell development A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. biological_process functional differentiation GO:0048469 cell maturation Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. https://github.com/geneontology/go-ontology/issues/25943 Wikipedia:Organogenesis development of an organ organogenesis biological_process GO:0048513 animal organ development The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. biological_process GO:0048514 blood vessel morphogenesis Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. GO:0043119 positive regulation of physiological process up regulation of biological process up-regulation of biological process upregulation of biological process activation of biological process stimulation of biological process biological_process GO:0048518 positive regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. GO:0043118 down regulation of biological process down-regulation of biological process downregulation of biological process negative regulation of physiological process inhibition of biological process biological_process GO:0048519 negative regulation of biological process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. GO:0051242 positive regulation of cellular physiological process up regulation of cellular process up-regulation of cellular process upregulation of cellular process activation of cellular process stimulation of cellular process biological_process GO:0048522 positive regulation of cellular process Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. GO:0051243 down regulation of cellular process down-regulation of cellular process downregulation of cellular process negative regulation of cellular physiological process inhibition of cellular process biological_process GO:0048523 negative regulation of cellular process The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. haematopoietic or lymphoid organ development haemopoietic or lymphoid organ development hemopoietic or lymphoid organ development hematopoietic or lymphoid organ development Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. biological_process GO:0048583 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 QC. regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. up regulation of response to stimulus up-regulation of response to stimulus upregulation of response to stimulus activation of response to stimulus stimulation of response to stimulus biological_process GO:0048584 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 QC. positive regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. down regulation of response to stimulus down-regulation of response to stimulus downregulation of response to stimulus inhibition of response to stimulus biological_process GO:0048585 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 QC. negative regulation of response to stimulus The process in which the anatomical structures of the eye are generated and organized. eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. camera-style eye morphogenesis camera-type eye morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. GO:0048828 embryonic anatomical structure morphogenesis biological_process GO:0048598 embryonic morphogenesis 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 developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. formation of an anatomical structure involved in morphogenesis biological_process GO:0048646 Note that, for example, the formation of a pseudopod in an amoeba would not be considered formation involved in morphogenesis because it would not be thought of as the formation of an anatomical structure that was part of the shaping of the amoeba during its development. The formation of an axon from a neuron would be considered the formation of an anatomical structure involved in morphogenesis because it contributes to the creation of the form of the neuron in a developmental sense. anatomical structure formation involved in morphogenesis The process in which the anatomical structures of a tissue are generated and organized. biological_process GO:0048729 tissue morphogenesis The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. biological_process GO:0048731 system development The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. biological_process tubulogenesis GO:0048754 branching morphogenesis of an epithelial tube The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. mesenchymal cell differentiation The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. tissue remodelling biological_process GO:0048771 tissue remodeling The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. https://github.com/geneontology/go-ontology/issues/26424 development of an anatomical structure biological_process GO:0048856 anatomical structure development The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. stem cell differentiation The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. stem cell development A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. biological_process GO:0048869 cellular developmental process Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. https://github.com/geneontology/go-ontology/issues/19809 cell locomotion movement of a cell biological_process cell movement GO:0048870 cell motility Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. biological_process GO:0048871 multicellular organismal homeostasis multicellular organismal-level homeostasis Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. https://github.com/geneontology/go-ontology/issues/24218 cell population homeostasis homeostasis of cell number biological_process GO:0048872 homeostasis of number of cells Any biological process involved in the maintenance of an internal steady state of a chemical. biological_process GO:0048878 chemical homeostasis The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. sensory system development Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. sugar-phosphate phosphatase activity sugar-phosphate phosphohydrolase activity sugar-phosphatase activity Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. sugar-omega-phosphate phosphohydrolase activity xylitol-5-phosphatase activity sugar-terminal-phosphatase activity The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. Hcy metabolic process Hcy metabolism homocysteine metabolism homocysteine metabolic process Any process that modulates the frequency, rate or extent of lymphocyte proliferation. biological_process GO:0050670 regulation of lymphocyte proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. biological_process GO:0050673 epithelial cell proliferation Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. biological_process GO:0050776 regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. down regulation of immune response down-regulation of immune response downregulation of immune response inhibition of immune response biological_process GO:0050777 negative regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. up regulation of immune response up-regulation of immune response upregulation of immune response stimulation of immune response biological_process GO:0050778 positive regulation of immune response Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. GO:0050791 regulation of physiological process biological_process GO:0050789 regulation of biological process Any process that modulates the activity of an enzyme. GO:0048552 regulation of enzyme activity regulation of metalloenzyme activity biological_process GO:0050790 regulation of catalytic activity Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). biological_process GO:0050793 regulation of developmental process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. GO:0051244 regulation of cellular physiological process biological_process GO:0050794 regulation of cellular process Any process involved in the maintenance of an internal steady state of ions within an organism or cell. GO:2000021 biological_process electrolyte homeostasis negative regulation of crystal formation regulation of ion homeostasis GO:0050801 ion homeostasis The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. clotting coagulation Interacting selectively and non-covalently with a cell adhesion molecule. CAM binding molecular_function adhesive extracellular matrix constituent cell adhesion molecule activity cell adhesion receptor activity GO:0050839 cell adhesion molecule binding Any process that modulates the frequency, rate or extent of T cell activation. regulation of T lymphocyte activation regulation of T-cell activation regulation of T-lymphocyte activation biological_process GO:0050863 regulation of T cell activation Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. biological_process GO:0050865 regulation of cell activation Any process that activates or increases the frequency, rate or extent of activation. up regulation of cell activation up-regulation of cell activation upregulation of cell activation activation of cell activation stimulation of cell activation biological_process GO:0050867 positive regulation of cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. positive regulation of T lymphocyte activation positive regulation of T-cell activation positive regulation of T-lymphocyte activation up regulation of T cell activation up-regulation of T cell activation upregulation of T cell activation activation of T cell activation stimulation of T cell activation biological_process GO:0050870 positive regulation of T cell activation A organ system process carried out by any of the organs or tissues of neurological system. https://github.com/geneontology/go-ontology/issues/13824 neurological system process neurophysiological process biological_process pan-neural process GO:0050877 nervous system process Any process that modulates the levels of body fluids. biological_process GO:0050878 regulation of body fluid levels The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. endocrine physiological process endocrine physiology biological_process GO:0050886 endocrine process A chemical homeostatic process involved in the maintenance of a steady state level of water within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. https://github.com/geneontology/go-ontology/issues/24554 multicellular organismal water homeostasis biological_process body fluid osmoregulation GO:0050891 multicellular organismal-level water homeostasis Any process in which nutrients are taken up from the contents of the intestine. intestinal absorption Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. GO:0051869 physiological response to stimulus biological_process GO:0050896 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 QC. response to stimulus The movement of a leukocyte within or between different tissues and organs of the body. immune cell migration immune cell trafficking leucocyte migration leucocyte trafficking leukocyte trafficking biological_process GO:0050900 leukocyte migration Any process pertaining to the functions of the nervous and muscular systems of an organism. neuromotor process neuromuscular physiological process neuromuscular process Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. biological_process GO:0050920 regulation of chemotaxis Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. up regulation of chemotaxis up-regulation of chemotaxis upregulation of chemotaxis activation of chemotaxis stimulation of chemotaxis biological_process GO:0050921 positive regulation of chemotaxis The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. mechanosensory perception perception of mechanical stimulus chemi-mechanical coupling sensory perception of mechanical stimulus Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). up regulation of developmental process up-regulation of developmental process upregulation of developmental process activation of developmental process stimulation of developmental process biological_process GO:0051094 positive regulation of developmental process Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. biological_process GO:0051098 regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. up regulation of binding up-regulation of binding upregulation of binding activation of binding stimulation of binding biological_process GO:0051099 positive regulation of binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). biological_process GO:0051101 regulation of DNA binding Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. regulation of nitrogen metabolic process regulation of nitrogen metabolism biological_process GO:0051171 regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. positive regulation of nitrogen metabolic process positive regulation of nitrogen metabolism up regulation of nitrogen metabolic process up-regulation of nitrogen metabolic process upregulation of nitrogen metabolic process activation of nitrogen metabolic process stimulation of nitrogen metabolic process biological_process GO:0051173 positive regulation of nitrogen compound metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. regulation of phosphorus metabolism biological_process GO:0051174 regulation of phosphorus metabolic process Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. jl 2013-12-18T13:51:04Z GO:1902578 establishment and maintenance of localization establishment and maintenance of position localisation establishment and maintenance of cellular component location establishment and maintenance of substance location establishment and maintenance of substrate location biological_process single organism localization single-organism localization GO:0051179 localization The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. vitamin or cofactor transport vitamin transport Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. https://github.com/geneontology/go-ontology/issues/24200 establishment of localisation biological_process GO:0051234 establishment of localization Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere. maintenance of localization retention sequestering storage maintenance of location Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. biological_process GO:0051239 regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. up regulation of multicellular organismal process up-regulation of multicellular organismal process upregulation of multicellular organismal process activation of multicellular organismal process stimulation of multicellular organismal process biological_process GO:0051240 positive regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of lymphocyte activation. biological_process GO:0051249 regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. up regulation of lymphocyte activation up-regulation of lymphocyte activation upregulation of lymphocyte activation activation of lymphocyte activation stimulation of lymphocyte activation biological_process GO:0051251 positive regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. regulation of RNA metabolism biological_process GO:0051252 regulation of RNA metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. positive regulation of RNA metabolism up regulation of RNA metabolic process up-regulation of RNA metabolic process upregulation of RNA metabolic process activation of RNA metabolic process stimulation of RNA metabolic process biological_process GO:0051254 positive regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of the movement of a cellular component. regulation of cellular component motion biological_process regulation of cell movement GO:0051270 regulation of cellular component movement Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. positive regulation of cellular component motion biological_process GO:0051272 positive regulation of cellular component movement A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. https://github.com/geneontology/go-ontology/issues/22811 https://github.com/geneontology/go-ontology/issues/4585 GO:0006323 GO:0007001 GO:0051277 DNA condensation chromosome organisation DNA packaging biological_process chromosome organization and biogenesis maintenance of genome integrity nuclear genome maintenance GO:0051276 chromosome organization The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. Wikipedia:Cell_division biological_process GO:0051301 Note that this term differs from 'cytokinesis ; GO:0000910' in that cytokinesis does not include nuclear division. cell division Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. transferase regulator biological_process GO:0051338 This term is useful for grouping, but is too general for manual annotation. Please use a child term instead. regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. transferase activator up regulation of transferase activity up-regulation of transferase activity upregulation of transferase activity activation of transferase activity stimulation of transferase activity biological_process GO:0051347 This term is useful for grouping, but is too general for manual annotation. Please use a child term instead. positive regulation of transferase activity Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. cell pH regulation cellular pH regulation pH regulation in cell regulation of cell pH biological_process GO:0051453 regulation of intracellular pH The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. biological_process GO:0051608 histamine transport Any process in which an organelle is transported to, and/or maintained in, a specific location. https://github.com/geneontology/go-ontology/issues/19809 establishment and maintenance of organelle localization organelle localisation biological_process GO:0051640 organelle localization A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. jl 2013-12-18T14:04:32Z GO:1902580 cellular localisation establishment and maintenance of cellular localization establishment and maintenance of localization in cell or cell membrane single organism cellular localization intracellular localization localization within cell biological_process single-organism cellular localization GO:0051641 cellular localization Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. cytoplasmic vesicle localization establishment and maintenance of vesicle localization vesicle localisation biological_process GO:0051648 vesicle localization Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. establishment of localisation in cell establishment of intracellular localization establishment of localization within cell positioning within cell biological_process establishment of cellular localization GO:0051649 establishment of localization in cell The directed movement of a vesicle to a specific location. establishment of vesicle localisation biological_process GO:0051650 establishment of vesicle localization The directed movement of an organelle to a specific location. establishment of organelle localisation biological_process GO:0051656 establishment of organelle localization Any process in which a cell is transported to, and/or maintained in, a specific location. cell localization establishment and maintenance of cell localization establishment and maintenance of localization of cell localisation of cell biological_process GO:0051674 localization of cell A biological process which involves another organism of the same or different species. interaction between organisms physiological interaction between organisms physiological interaction with other organism multi-organism process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. GO:0009613 GO:0042828 biological_process GO:0051707 response to other organism Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. biological_process GO:0051716 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 QC. cellular response to stimulus The chemical reactions and pathways resulting in the formation of a nitric-oxide synthase, an enzyme which catalyzes the reaction L-arginine + n NADPH + n H+ + m O2 = citrulline + nitric oxide + n NADP+. GO:0051768 NO synthase biosynthesis NO synthase biosynthetic process NOS biosynthesis NOS biosynthetic process NOS1 biosynthesis NOS2 biosynthesis NOS2 synthase biosynthesis NOS2 synthase biosynthetic process NOS3 biosynthesis brain nitric-oxide synthase biosynthetic process endothelial nitric-oxide synthase biosynthetic process inducible nitric-oxide synthase biosynthetic process nitric-oxide synthase (type 2) biosynthesis nitric-oxide synthase (type 2) biosynthetic process nitric-oxide synthase (type II) biosynthesis nitric-oxide synthase (type II) biosynthetic process nitric-oxide synthase 2 biosynthetic process nitric-oxide synthase-1 biosynthetic process nitric-oxide synthase-2 biosynthetic process nitric-oxide synthase-3 biosynthetic process biological_process GO:0051767 nitric-oxide synthase biosynthetic process Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. metal ion homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. biological_process GO:0055067 monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell. copper homeostasis copper ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. regulation of calcium ion concentration calcium ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. biological_process GO:0055080 cation homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. anion homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. biological_process GO:0055082 cellular chemical homeostasis The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. tb 2015-10-21T13:22:47Z GO:0090662 membrane transport ATP hydrolysis coupled transmembrane transport biological_process GO:0055085 Transmembrane transport is the transport of a solute across a lipid bilayer. Note that transport through the nuclear pore complex is not transmembrane because the nuclear membrane is a double membrane and is not traversed. For transport through the nuclear pore, consider instead the term 'nucleocytoplasmic transport ; GO:0006913' and its children. Note also that this term is not intended for use in annotating lateral movement within membranes. transmembrane transport The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. nucleobase, nucleoside and nucleotide metabolism nucleobase, nucleoside and nucleotide metabolic process nucleobase-containing small molecule metabolic process The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. heart beating cardiac contraction hemolymph circulation GO:0060047 heart contraction The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. Wikipedia:Urination urination urine voiding biological_process GO:0060073 micturition A compound molecular function in which an effector function is controlled by one or more regulatory components. molecular_function GO:0060089 molecular transducer activity The volume enclosed by a cytoplasmic vesicle. cellular_component cytoplasmic membrane-bounded vesicle lumen cytoplasmic membrane-enclosed vesicle lumen GO:0060205 cytoplasmic vesicle lumen Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens. lens induction in camera-type eye A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. anatomical structure maintenance biological_process GO:0060249 anatomical structure homeostasis Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. biological_process GO:0060255 regulation of macromolecule metabolic process The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. GO:0042384 Reactome:R-HSA-5617833.2 ciliogenesis cilium formation microtubule-based flagellum assembly biological_process cilium biogenesis cilium morphogenesis cilium organization GO:0060271 Note that we deem cilium and microtubule-based flagellum to be equivalent. cilium assembly Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. biological_process GO:0060284 regulation of cell development Cell motility due to the motion of one or more eukaryotic cilia. A eukaryotic cilium is a specialized organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. cilium cell motility microtubule-based flagellar cell motility ciliary cell motility cilium-dependent cell motility Movement of cilia mediated by motor proteins that contributes to the movement of a cell. cilium movement involved in cell motility The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). biological_process GO:0060326 cell chemotaxis The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. bone development The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. biological_process GO:0060374 mast cell differentiation The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. biological_process GO:0060429 epithelium development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. mesenchymal development mesenchyme development The progression of the respiratory system over time from its formation to its mature structure. The respiratory system carries out respiratory gaseous exchange. dph 2009-04-10T08:55:42Z biological_process GO:0060541 respiratory system development The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. dph 2009-04-28T09:33:36Z biological_process GO:0060562 epithelial tube morphogenesis The regulated release of a hormone into the circulatory system. endocrine hormone secretion A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. jl 2010-02-08T02:43:11Z GO:0016044 GO:0044802 cellular membrane organisation cellular membrane organization membrane organisation biological_process membrane organization and biogenesis single-organism membrane organization GO:0061024 membrane organization The membrane organization process that joins two lipid bilayers to form a single membrane. jl 2010-02-08T02:48:06Z GO:0006944 GO:0044801 Wikipedia:Lipid_bilayer_fusion cellular membrane fusion biological_process single-organism membrane fusion GO:0061025 membrane fusion The process in which the anatomical structures of a branched epithelium are generated and organized. dph 2010-05-25T09:05:34Z biological_process GO:0061138 morphogenesis of a branching epithelium The progression of the renal tubule over time from its formation to the mature form. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. dph 2010-09-28T12:50:43Z biological_process GO:0061326 renal tubule development The process in which the renal tubule is generated by specification of cell fate, through the maintenance of cell polarity, regulated cell proliferation and morphogenetic cell rearrangements, shape changes and growth. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. dph 2010-09-28T01:43:04Z biological_process GO:0061333 renal tubule morphogenesis The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5. testosterone biosynthetic process A process in which a protein is transported to, or maintained in, a location within a cilium. dph 2013-03-22T15:41:44Z biological_process GO:0061512 protein localization to cilium A cytosolic protein complex that is capable of activating caspase-1. inflammasome complex An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. dph 2018-04-13T12:47:21Z cellular_component GO:0062023 collagen-containing extracellular matrix The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. https://github.com/geneontology/go-ontology/issues/22580 GO:0006461 GO:0034622 GO:0043623 cellular protein complex assembly biological_process cellular macromolecule complex assembly cellular protein-containing complex assembly chaperone activity macromolecular complex assembly macromolecule complex assembly protein complex assembly protein complex formation GO:0065003 protein-containing complex assembly Any process that modulates a measurable attribute of any biological process, quality or function. regulation biological_process GO:0065007 biological regulation Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. regulation of biological attribute regulation of biological characteristic biological_process GO:0065008 regulation of biological quality Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. regulation of a molecular function biological_process GO:0065009 regulation of molecular function Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. extracellular membrane-enclosed organelle cellular_component GO:0065010 extracellular membrane-bounded organelle An organelle lumen that is part of an intracellular organelle. cellular_component GO:0070013 intracellular organelle lumen A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. exosome extracellular vesicular exosome cellular_component GO:0070062 extracellular exosome The covalent attachment and further modification of carbohydrate residues to a substrate molecule. glycosylation A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. anchoring cell junction cellular_component GO:0070161 anchoring junction The actin filament-based process in which cytoplasmic actin filaments slide past one another resulting in contraction of all or part of the cell body. biological_process GO:0070252 actin-mediated cell contraction A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). nephron absorption renal reabsorption biological_process GO:0070293 renal absorption A renal system process in which water is taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. nephron water absorption renal water reabsorption biological_process GO:0070295 renal water absorption An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. ERK cascade ERK1 and ERK2 signaling pathway ERK1 and ERK2 signalling pathway ERK1/2 cascade extracellular signal-regulated kinase 1/2 (ERK1/2) cascade extracellular signal-regulated kinase 1/2 cascade ERK1 cascade ERK2 cascade MAPK1 cascade MAPK3 cascade biological_process GO:0070371 Note that this MAPKKK cascade is commonly referred to as the ERK pathway in the literature, but involves only ERK1 or ERK2 and should not be confused with cascades that involve other ERK kinases. ERK1 and ERK2 cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. regulation of ERK cascade regulation of ERK1 and ERK2 signaling pathway regulation of ERK1 and ERK2 signalling pathway regulation of ERK1/2 cascade regulation of ERK1 cascade regulation of ERK2 cascade regulation of MAPK1 cascade regulation of MAPK3 cascade biological_process GO:0070372 regulation of ERK1 and ERK2 cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. positive regulation of ERK cascade positive regulation of ERK1 and ERK2 signaling pathway positive regulation of ERK1 and ERK2 signalling pathway positive regulation of ERK1/2 cascade up regulation of ERK1 and ERK2 cascade up-regulation of ERK1 and ERK2 cascade upregulation of ERK1 and ERK2 cascade activation of ERK1 and ERK2 cascade positive regulation of ERK1 cascade positive regulation of ERK2 cascade positive regulation of MAPK1 cascade positive regulation of MAPK3 cascade stimulation of ERK1 and ERK2 cascade biological_process GO:0070374 positive regulation of ERK1 and ERK2 cascade A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. exocytic constitutive secretory pathway transport vesicle exocytotic vesicle cellular_component GO:0070382 exocytic vesicle Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. biological_process GO:0070482 response to oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. response to IL-1 biological_process GO:0070555 response to interleukin-1 The expansion of a leukocyte population by cell division. mah 2009-05-28T05:25:28Z biological_process GO:0070661 leukocyte proliferation Any process that modulates the frequency, rate or extent of leukocyte proliferation. mah 2009-05-28T05:30:39Z biological_process GO:0070663 regulation of leukocyte proliferation Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. mah 2009-06-16T04:08:29Z cellular macromolecule localisation biological_process GO:0070727 cellular macromolecule localization A secretory granule that contains cathepsin and gelatinase and is readily exocytosed upon cell activation; found primarily in mature neutrophil cells. mah 2009-07-20T03:57:00Z gelatinase granule cellular_component GO:0070820 tertiary granule Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. mah 2009-08-27T04:41:45Z biological_process GO:0070887 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 QC. cellular response to chemical stimulus The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. mah 2009-09-15T03:00:51Z biological_process GO:0070925 organelle assembly A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. DNA conformation modification DNA conformation change Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. mah 2009-12-03T01:09:08Z cellular response to biotic stress biological_process GO:0071216 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 QC. cellular response to biotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin. mah 2009-12-03T01:22:00Z cellular response to bacteria associated molecule cellular response to bacterial associated molecule cellular response to bacterium associated molecule biological_process GO:0071219 cellular response to molecule of bacterial origin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. mah 2009-12-03T01:29:29Z cellular response to endotoxin cellular response to LPS biological_process GO:0071222 cellular response to lipopolysaccharide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. mah 2009-12-10T04:46:04Z biological_process GO:0071310 cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. cellular response to monosaccharide stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. cellular response to hexose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. cellular response to glucose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. mah 2009-12-11T02:41:12Z biological_process GO:0071345 cellular response to cytokine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. mah 2009-12-11T02:49:17Z cellular response to IL-1 biological_process GO:0071347 cellular response to interleukin-1 Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus. mah 2009-12-11T02:51:37Z cellular response to TNF biological_process GO:0071356 cellular response to tumor necrosis factor Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. cellular response to polypeptide hormone stimulus cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. mah 2009-12-11T04:37:10Z biological_process GO:0071396 cellular response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. cellular response to organic nitrogen cellular response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. mah 2009-12-16T04:43:59Z biological_process cellular response to oxygen GO:0071453 cellular response to oxygen levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. mah 2009-12-16T04:45:20Z cellular response to hypoxic stress cellular response to lowered oxygen tension biological_process GO:0071456 Note that this term should not be confused with 'cellular response to anoxia ; GO:0071454'. Note that in laboratory studies, hypoxia is typically studied at O2 concentrations ranging from 0.1 - 5%. cellular response to hypoxia Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. cellular response to endogenous stimulus The movement of a mononuclear cell within or between different tissues and organs of the body. mah 2010-02-16T02:11:00Z biological_process GO:0071674 mononuclear cell migration Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. mah 2010-02-25T04:00:13Z protein localisation in extracellular region protein localization in extracellular region biological_process GO:0071692 protein localization to extracellular region A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. mah 2010-03-02T11:43:38Z biological_process GO:0071695 anatomical structure maturation The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. mah 2010-03-08T02:15:14Z biological_process GO:0071702 organic substance transport The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. https://github.com/geneontology/go-ontology/issues/26424 mah 2010-03-08T03:32:18Z organic molecular entity metabolic process organic molecular entity metabolism organic substance metabolism biological_process GO:0071704 organic substance metabolic process The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. mah 2010-03-08T03:56:28Z biological_process GO:0071705 nitrogen compound transport The appearance of any member of the TNF superfamily due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. mah 2010-03-09T02:40:35Z TNFSF cytokine production biological_process TNF superfamily production GO:0071706 Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select one of the 'regulation' children terms. tumor necrosis factor superfamily cytokine production The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). mah 2010-03-09T04:20:31Z immunoglobulin V(D)J joining immunoglobulin V(D)J recombination immunoglobulin V-D-J joining biological_process GO:0071707 immunoglobulin heavy chain V-D-J recombination The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). mah 2010-03-09T04:22:29Z immunoglobulin V(D)J joining immunoglobulin V(D)J recombination immunoglobulin V-J joining biological_process GO:0071708 immunoglobulin light chain V-J recombination A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. mah 2010-03-24T01:44:53Z cellular_component GO:0071738 Note that an IgD immunoglobulin complex has the function of antigen binding if a suitable antigen is available. IgD immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. mah 2010-03-24T01:44:53Z cellular_component GO:0071753 Note that an IgM immunoglobulin complex has the function of antigen binding if a suitable antigen is available. IgM immunoglobulin complex Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. https://github.com/geneontology/go-ontology/issues/25143 mah 2010-09-08T10:10:35Z RNA-protein complex subunit organization protein-RNA complex subunit organization ribonucleoprotein complex subunit organisation ribonucleoprotein complex subunit organization biological_process GO:0071826 protein-RNA complex organization A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. mah 2010-09-10T01:39:16Z GO:0071841 cellular component organisation or biogenesis cellular component organisation or biogenesis at cellular level cellular component organization or biogenesis at cellular level biological_process GO:0071840 cellular component organization or biogenesis The process in which urea, the water-soluble compound H2N-CO-NH2, is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. mah 2010-09-24T10:41:36Z urea membrane transport biological_process GO:0071918 Note that this term is not intended for use in annotating lateral movement within membranes. urea transmembrane transport The broad region around and including the plasma membrane of a cell, encompassing the cell cortex (inside the cell), the plasma membrane, and any external encapsulating structures. The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures. mah 2010-10-04T01:51:47Z cellular_component GO:0071944 cell periphery An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. mah 2010-10-11T11:44:57Z elastic fibre elastin fiber cellular_component GO:0071953 elastic fiber The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. mah 2010-10-18T03:44:18Z extracellular vesicular exosome assembly biological_process GO:0071971 extracellular exosome assembly The process whose specific outcome is the progression of the renal system over time, from its formation to the mature structure. The renal system maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels. mah 2010-01-25T10:31:00Z urinary system development urinary tract development biological_process GO:0072001 renal system development The developmental process pertaining to the initial formation of an epithelial tube. https://github.com/geneontology/go-ontology/issues/22302 mah 2010-02-26T02:15:40Z biological_process GO:0072175 epithelial tube formation The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. mah 2010-11-16T11:27:39Z GO:0072358 cardiovascular system development biological_process GO:0072359 circulatory system development A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. protein activation pathway protein activitory cascade protein activation cascade Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. divalent inorganic cation homeostasis The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. purine and derivative metabolic process purine-containing compound metabolism purine-containing compound metabolic process The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. purine and derivative biosynthetic process purine-containing compound anabolism purine-containing compound biosynthesis purine-containing compound formation purine-containing compound synthesis purine-containing compound biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. dhl 2009-04-22T04:30:52Z biological_process GO:0080090 regulation of primary metabolic process Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. amino acid homeostasis Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell. cysteine homeostasis Any process that modulates the size of an anatomical structure. tb 2009-09-02T11:00:08Z biological_process GO:0090066 regulation of anatomical structure size The joining of two lipid bilayers to form a single organelle membrane. tb 2009-12-11T11:44:58Z biological_process GO:0090174 organelle membrane fusion Any process that increases the frequency, rate or extent of lipid kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a simple or complex lipid. tb 2010-01-12T10:18:30Z biological_process GO:0090218 positive regulation of lipid kinase activity Any cellular metabolic process involving nucleic acids. tb 2010-04-07T10:18:47Z biological_process GO:0090304 nucleic acid metabolic process The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose. organophosphate biosynthetic process Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. sensory organ morphogenesis All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. pr 2011-03-23T01:52:31Z cilium plasm microtubule-based flagellar matrix microtubule-based flagellum matrix cellular_component cilial cytoplasm ciliary cytoplasm cilium cytoplasm microtubule-based flagellar cytoplasm microtubule-based flagellum cytoplasm GO:0097014 Note that we deem cilium and microtubule-based flagellum to be equivalent. Also, researchers consider the composition of both the plasm and the membrane of the cilium to be detectably different from that in the non-ciliary cytosol and plasma membrane (e.g. in terms of calcium ion concentration, membrane lipid composition, and more). For this reason, the term "ciliary plasm" is not linked to "cytoplasm". ciliary plasm The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. pr 2011-04-01T10:08:42Z biological_process GO:0097028 Note that immunologists typically use the word 'maturation' to refer to dendritic cells undergoing the process that GO describes as 'cell differentiation'. dendritic cell differentiation Interacting selectively and non-covalently with an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. pr 2011-09-23T02:31:01Z molecular_function GO:0097159 organic cyclic compound binding The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. pr 2011-11-23T09:30:23Z GO:0008624 apoptotic signalling pathway induction of apoptosis by extracellular signals biological_process GO:0097190 This term can be used to annotate gene products involved in apoptotic events happening downstream of the cross-talk point between the extrinsic and intrinsic apoptotic pathways. The cross-talk starts when caspase-8 cleaves Bid and truncated Bid interacts with mitochondria. From this point on it is not possible to distinguish between extrinsic and intrinsic pathways. apoptotic signaling pathway A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. pr 2011-11-23T09:45:24Z execution phase of apoptotic process apoptosis biological_process GO:0097194 execution phase of apoptosis A renal system process in which fluid circulating through the body is filtered through a barrier system. pr 2012-01-03T03:10:17Z biological_process GO:0097205 renal filtration The elimination of substances from peritubular capillaries (or surrounding hemolymph in invertebrates) into the renal tubules to be incorporated subsequently into the urine. Substances that are secreted include organic anions, ammonia, potassium and drugs. https://github.com/geneontology/go-ontology/issues/22368 pr 2012-03-05T02:03:58Z biological_process GO:0097254 renal tubular secretion An arrangement of closely apposed microtubules running parallel to each other. pr 2012-11-07T15:01:27Z NIF_Subcellular:sao1872343973 microtubule fascicle cellular_component GO:0097427 microtubule bundle Any of the two layers of lipid molecules that constitute a membrane. pr 2013-05-07T14:24:37Z membrane leaflet cellular_component GO:0097478 leaflet of membrane bilayer The movement of a myeloid leukocyte within or between different tissues and organs of the body. pr 2013-11-11T13:59:43Z biological_process GO:0097529 myeloid leukocyte migration The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA). pr 2014-10-01T13:49:27Z biological_process GO:0097659 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 QC. nucleic acid-templated transcription Any vesicle that is part of the intracellular region. pr 2016-03-29T17:39:45Z cellular_component GO:0097708 intracellular vesicle The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. pr 2016-08-05T16:12:33Z Reactome:R-HSA-5620912.1 ciliary basal body docking biological_process anchoring of the basal body to the plasma membrane GO:0097711 Basal bodies in jawed vertebrates appear to first attach to a ciliary vesicle. It is unclear how specific this is to jawed vertebrates or if other organisms also employ this sequence. Some species like Giardia intestinalis do not relocate their basal bodies to the plasma membrane, but have their axonemes extend through the cytosol to then protrude out of the cell to form flagella. ciliary basal body-plasma membrane docking The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. pr 2016-08-05T16:16:28Z biological_process GO:0097712 vesicle targeting, trans-Golgi to periciliary membrane compartment Any process involved in the controlled movement of a sperm cell. sperm movement sperm motility The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. pr 2016-10-03T14:35:25Z exosome assembly or secretion exosome biogenesis exosome production biological_process ILV assembly intraluminal vesicle assembly GO:0097734 extracellular exosome biogenesis Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. https://github.com/geneontology/go-ontology/issues/22173 dos 2013-11-11T12:59:11Z GO:0009814 defence response incompatible interaction defence response to pathogen, incompatible interaction defense response, incompatible interaction resistance response to pathogen biological_process GO:0098542 defense response to other organism A cellular component consisting of one leaflet of a membrane bilayer and any proteins embedded or anchored in it or attached to its surface. dos 2013-12-03T11:28:04Z cellular_component GO:0098552 side of membrane A membrane that is a (regional) part of the plasma membrane. dos 2014-03-06T11:55:32Z region of plasma membrane cellular_component GO:0098590 Note that this term should not be used for direct manual annotation as it should always be possible to choose a more specific subclass. plasma membrane region The attachment of one cell to another cell via adhesion molecules. dos 2014-04-16T13:40:03Z GO:0016337 biological_process single organismal cell-cell adhesion GO:0098609 cell-cell adhesion A collagen trimer that forms networks. cellular_component GO:0098642 network-forming collagen trimer A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). cellular_component GO:0098643 banded collagen fibril A complex of collagen trimers such as a fibril or collagen network. Supramolecular aggregate of collagen Supramolecular collagen assembly cellular_component GO:0098644 complex of collagen trimers A supramolecular complex that consists of collagen triple helices associated to form a network. cellular_component GO:0098645 collagen network Any collagen timer that is part of a basement membrane. cellular_component GO:0098651 basement membrane collagen trimer The process in which a cation is transported across a membrane. GO:0099132 ATP hydrolysis coupled cation transmembrane transport biological_process GO:0098655 cation transmembrane transport The process in which an anion is transported across a membrane. GO:0099133 ATP hydrolysis coupled anion transmembrane transport biological_process GO:0098656 anion transmembrane transport The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. uptake biological_process GO:0098657 import into cell The process in which an inorganic ion is transported across a membrane. inorganic ion membrane transport transmembrane inorganic ion transport biological_process GO:0098660 Note that this term is not intended for use in annotating lateral movement within membranes. inorganic ion transmembrane transport The process in which an inorganic anion is transported across a membrane. inorganic anion membrane transport transmembrane inorganic anion transport biological_process GO:0098661 Note that this term is not intended for use in annotating lateral movement within membranes. inorganic anion transmembrane transport A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. GO:0015672 GO:0072511 inorganic cation membrane transport transmembrane inorganic cation transport divalent inorganic cation transport monovalent inorganic cation transport biological_process GO:0098662 Note that this term is not intended for use in annotating lateral movement within membranes. inorganic cation transmembrane transport Any subdivision of a chromosome along its length. chromosome region chromosomal region The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. biological_process GO:0098742 cell-cell adhesion via plasma-membrane adhesion molecules Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. biological_process GO:0098771 inorganic ion homeostasis A molecular function that modulates the activity of a gene product or complex. Examples include enzyme regulators and channel regulators. molecular_function GO:0098772 molecular function regulator The part of a synapse that is part of the presynaptic cell. presynaptic terminal cellular_component GO:0098793 presynapse The part of a synapse that is part of the post-synaptic cell. cellular_component GO:0098794 postsynapse Any protein complex that is part of a membrane. cellular_component GO:0098796 membrane protein complex Any protein complex that is part of the plasma membrane. cellular_component GO:0098797 plasma membrane protein complex Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. biological_process GO:0098801 regulation of renal system process Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. cellular_component GO:0098802 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 QC. plasma membrane signaling receptor complex A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. cellular_component GO:0098857 membrane microdomain A cell projection supported by an assembly of actin filaments, and which lacks microtubules. cellular_component GO:0098858 actin-based cell projection A cell part consisting of multiple, closely packed actin-based cell projections. cellular_component GO:0098862 cluster of actin-based cell projections Cell-cell signaling from pre to post-synapse, across the synaptic cleft. biological_process GO:0098916 anterograde trans-synaptic signaling A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. cellular_component GO:0099080 supramolecular complex A polymeric supramolecular structure. cellular_component GO:0099081 supramolecular polymer A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. biological_process GO:0099111 microtubule-based transport Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. biological_process GO:0099500 vesicle fusion to plasma membrane A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. cellular_component GO:0099503 secretory vesicle A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. GO:0043205 cellular_component fibril GO:0099512 supramolecular fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. cellular_component GO:0099513 polymeric cytoskeletal fiber Cell-cell signaling to, from or within a synapse. biological_process GO:0099536 synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. biological_process GO:0099537 trans-synaptic signaling Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. cellular_component GO:0099568 cytoplasmic region A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. https://github.com/geneontology/go-ontology/issues/24200 https://github.com/geneontology/go-ontology/issues/26424 kmv 2019-08-12T18:01:37Z cellular_component GO:0110165 cellular anatomical entity A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. https://github.com/geneontology/go-ontology/issues/13193 krc 2017-03-21T17:26:07Z cellular_component GO:0120025 plasma membrane bounded cell projection Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. https://github.com/geneontology/go-ontology/issues/13298 krc 2017-04-24T23:56:08Z eupodium biological_process GO:0120031 plasma membrane bounded cell projection assembly A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon. https://github.com/geneontology/go-ontology/issues/13298 krc 2017-04-26T16:07:02Z biological_process GO:0120036 plasma membrane bounded cell projection organization Contractions of the intestinal tract that include peristalsis (moving contents onward) and non-peristaltic movement (moving contents back and forth). intestinal motility The chemical reactions and pathways involving an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C). alkene substituted compound metabolic process alkene substituted compound metabolism olefinic compound metabolic process The chemical reactions and pathways resulting in the formation of an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C). alkene substituted compound anabolic process alkene substituted compound anabolism alkene substituted compound biosynthesis alkene substituted compound biosynthetic process alkene substituted compound synthesis olefinic compound biosynthetic process A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. https://github.com/geneontology/go-ontology/issues/19910 pg 2017-03-23T14:44:23Z mitosis biological_process GO:0140014 mitotic nuclear division The cellular processes that contribute to exocytosis. pg 2017-05-15T13:20:45Z biological_process GO:0140029 exocytic process The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. mitochondrial gene expression The process by which an organelle membrane interacts with another membrane via molecular tethers that physically bridge the two membranes and attach them to each other. pg 2017-06-27T09:58:51Z biological_process GO:0140056 organelle localization by membrane tethering Catalytic activity that acts to modify a protein. https://github.com/geneontology/go-ontology/issues/14225 pg 2017-09-14T10:32:59Z molecular_function GO:0140096 catalytic activity, acting on a protein The assembly and secretion a set of components to form an extracellular vesicule, a membrane-bounded vesicle that is released into the extracellular region. Extracellular vesicles include exosomes, microvesicles and apoptotic bodies, based on the mechanism by which they are released from cells and differentiated based on their size and content. https://github.com/geneontology/go-ontology/issues/14256 pg 2017-10-23T11:53:42Z extracellular vesicle assembly biological_process GO:0140112 extracellular vesicle biogenesis Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: anion(in) + solute(out) = anion(out) + solute(in). pg 2019-04-03T16:23:14Z molecular_function GO:0140323 solute:anion antiporter activity The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis. pg 2019-05-22T11:20:45Z efflux biological_process GO:0140352 export from cell The directed movement of a lipid from a cell, into the extracellular region. lipid efflux lipid export from cell Receiving a signal and transmitting it in a cell to initiate an immune response. pg 2019-10-18T14:11:15Z molecular_function GO:0140375 immune receptor activity Reactions triggered in response to the presence of a symbiont that act to protect or prevent damage to the host. https://github.com/geneontology/go-ontology/issues/20261 pg 2020-11-11T17:19:06Z biological_process GO:0140546 defense response to symbiont A homeostatic process involved in the maintenance of a steady state level of a chemical within extracellular body fluids, such as blood, xylem or phloem, of a multicellular organism. This is distinct from maintenance of cellular homeostasis, which occurs within a cell. https://github.com/geneontology/go-ontology/issues/24554 2022-12-12T09:11:06Z multicellular organism level chemical homeostasis organismal level chemical homeostasis GO:0140962 multicellular organismal-level chemical homeostasis The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways. optic pathway development visual pathway development visual system development The chemical reactions and pathways involving carbohydrate derivative. carbohydrate derivative metabolism carbohydrate derivative metabolic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. carbohydrate derivative anabolism carbohydrate derivative biosynthesis carbohydrate derivative formation carbohydrate derivative synthesis carbohydrate derivative biosynthetic process The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. carbohydrate derivative transport The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. nucleoside phosphate anabolism nucleoside phosphate biosynthesis nucleoside phosphate formation nucleoside phosphate synthesis nucleoside phosphate biosynthetic process Any process that modulates the frequency, rate or extent of vasculature development. bf 2012-09-06T09:16:15Z biological_process regulation of vascular system development GO:1901342 regulation of vasculature development The chemical reactions and pathways involving organic cyclic compound. bf 2012-09-14T09:03:51Z organic cyclic compound metabolism biological_process GO:1901360 organic cyclic compound metabolic process The chemical reactions and pathways resulting in the breakdown of organic cyclic compound. organic cyclic compound breakdown organic cyclic compound catabolism organic cyclic compound degradation organic cyclic compound catabolic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. bf 2012-09-14T09:05:22Z organic cyclic compound anabolism organic cyclic compound biosynthesis organic cyclic compound formation organic cyclic compound synthesis biological_process GO:1901362 organic cyclic compound biosynthetic process Interacting selectively and non-covalently with heterocyclic compound. bf 2012-09-14T13:53:50Z molecular_function GO:1901363 heterocyclic compound binding The chemical reactions and pathways involving organonitrogen compound. https://github.com/geneontology/go-ontology/issues/26424 pr 2012-11-04T15:17:52Z organonitrogen compound metabolism biological_process GO:1901564 organonitrogen compound metabolic process The chemical reactions and pathways resulting in the breakdown of organonitrogen compound. organonitrogen compound breakdown organonitrogen compound catabolism organonitrogen compound degradation organonitrogen compound catabolic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. 2012-11-04T15:18:00Z organonitrogen compound anabolism organonitrogen compound biosynthesis organonitrogen compound formation organonitrogen compound synthesis GO:1901566 organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. organic molecular entity breakdown organic molecular entity catabolic process organic molecular entity catabolism organic molecular entity degradation organic substance breakdown organic substance catabolism organic substance degradation organic substance catabolic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. pr 2012-11-05T11:04:40Z organic molecular entity anabolism organic molecular entity biosynthesis organic molecular entity biosynthetic process organic molecular entity formation organic molecular entity synthesis organic substance anabolism organic substance biosynthesis organic substance formation organic substance synthesis biological_process GO:1901576 organic substance biosynthetic process The chemical reactions and pathways involving an alpha-amino acid. alpha-amino acid metabolism alpha-amino acid metabolic process The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid. alpha-amino acid breakdown alpha-amino acid catabolism alpha-amino acid degradation alpha-amino acid catabolic process The chemical reactions and pathways involving organic hydroxy compound. organic hydroxy compound metabolism organic hydroxy compound metabolic process The chemical reactions and pathways resulting in the formation of organic hydroxy compound. organic hydroxy compound anabolism organic hydroxy compound biosynthesis organic hydroxy compound formation organic hydroxy compound synthesis organic hydroxy compound biosynthetic process Enables the transfer of organic hydroxy compound from one side of a membrane to the other. pr 2012-11-13T12:59:01Z molecular_function GO:1901618 organic hydroxy compound transmembrane transporter activity Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. cellular response to peptide The chemical reactions and pathways involving quinone. quinone metabolism quinone cofactor metabolic process quinone cofactor metabolism quinone metabolic process The chemical reactions and pathways resulting in the formation of quinone. quinone anabolism quinone biosynthesis quinone formation quinone synthesis quinone cofactor anabolism quinone cofactor biosynthesis quinone cofactor biosynthetic process quinone cofactor formation quinone cofactor synthesis quinone biosynthetic process Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. pr 2012-12-13T15:06:08Z response to nitrogen molecular entity biological_process GO:1901698 response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. cellular response to nitrogen molecular entity cellular response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. pr 2012-12-13T15:11:37Z response to oxygen molecular entity biological_process GO:1901700 response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. pr 2012-12-13T15:11:42Z cellular response to oxygen molecular entity biological_process GO:1901701 cellular response to oxygen-containing compound Any process that modulates the frequency, rate or extent of leukocyte differentiation. pr 2013-05-02T17:32:42Z regulation of immune cell differentiation regulation of leucocyte differentiation biological_process GO:1902105 regulation of leukocyte differentiation The process in which chloride is transported across a membrane. bf 2013-10-28T09:44:29Z biological_process GO:1902476 chloride transmembrane transport Any process that modulates the frequency, rate or extent of intracellular signal transduction. bf 2013-12-02T11:32:52Z GO:0010627 regulation of intracellular signaling cascade regulation of intracellular signaling chain regulation of intracellular protein kinase cascade regulation of intracellular signal transduction pathway regulation of signal transmission via intracellular cascade biological_process regulation of intracellular signaling pathway regulation of signal transduction via intracellular signaling cascade GO:1902531 regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. bf 2013-12-02T11:33:10Z GO:0010740 positive regulation of intracellular signaling chain up regulation of intracellular signal transduction up regulation of intracellular signaling chain up-regulation of intracellular signal transduction up-regulation of intracellular signaling chain upregulation of intracellular signal transduction upregulation of intracellular signaling chain activation of intracellular signal transduction activation of intracellular signal transduction pathway activation of intracellular signaling cascade activation of intracellular signaling chain activation of signal transmission via intracellular cascade positive regulation of intracellular protein kinase cascade positive regulation of intracellular signal transduction pathway positive regulation of signal transmission via intracellular cascade up regulation of intracellular signal transduction pathway up regulation of signal transmission via intracellular cascade up-regulation of intracellular signal transduction pathway up-regulation of signal transmission via intracellular cascade upregulation of intracellular signal transduction pathway upregulation of signal transmission via intracellular cascade biological_process activation of intracellular signaling pathway activation of signal transduction via intracellular signaling cascade positive regulation of intracellular signaling cascade positive regulation of intracellular signaling pathway positive regulation of signal transduction via intracellular signaling cascade up regulation of intracellular signaling cascade up regulation of intracellular signaling pathway up regulation of signal transduction via intracellular signaling cascade up-regulation of intracellular signaling cascade up-regulation of intracellular signaling pathway up-regulation of signal transduction via intracellular signaling cascade upregulation of intracellular signaling cascade upregulation of intracellular signaling pathway upregulation of signal transduction via intracellular signaling cascade GO:1902533 positive regulation of intracellular signal transduction The directed movement of a proton across a membrane. hydrogen transport proton transport hydrogen ion transmembrane transport hydrogen transmembrane transport proton transmembrane transport ATP hydrolysis coupled proton transport passive proton transport, down the electrochemical gradient hydrogen ion transport proton transmembrane transport The chemical reactions and pathways involving secondary alcohol. secondary alcohol metabolism secondary alcohol metabolic process The chemical reactions and pathways resulting in the formation of secondary alcohol. secondary alcohol anabolism secondary alcohol biosynthesis secondary alcohol formation secondary alcohol synthesis secondary alcohol biosynthetic process Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. jl 2014-02-05T16:32:10Z positive regulation of RNA anabolism positive regulation of RNA biosynthesis positive regulation of RNA formation positive regulation of RNA synthesis up regulation of RNA anabolism up regulation of RNA biosynthesis up regulation of RNA biosynthetic process up regulation of RNA formation up regulation of RNA synthesis up-regulation of RNA anabolism up-regulation of RNA biosynthesis up-regulation of RNA biosynthetic process up-regulation of RNA formation up-regulation of RNA synthesis upregulation of RNA anabolism upregulation of RNA biosynthesis upregulation of RNA biosynthetic process upregulation of RNA formation upregulation of RNA synthesis activation of RNA anabolism activation of RNA biosynthesis activation of RNA biosynthetic process activation of RNA formation activation of RNA synthesis biological_process GO:1902680 positive regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. rl 2014-05-19T15:29:58Z regulation of leukocyte adhesion regulation of leukocyte cell adhesion biological_process GO:1903037 Exogenous expression of ASS1 or NOS3 in HUVECs enhances NO production and inhibits monocyte adhesion regulation of leukocyte cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. rl 2014-05-19T15:30:15Z positive regulation of leukocyte adhesion positive regulation of leukocyte cell adhesion up regulation of leukocyte adhesion up regulation of leukocyte cell adhesion up regulation of leukocyte cell-cell adhesion up-regulation of leukocyte adhesion up-regulation of leukocyte cell adhesion up-regulation of leukocyte cell-cell adhesion upregulation of leukocyte adhesion upregulation of leukocyte cell adhesion upregulation of leukocyte cell-cell adhesion activation of leukocyte adhesion activation of leukocyte cell adhesion activation of leukocyte cell-cell adhesion biological_process GO:1903039 Exogenous expression of ASS1 or NOS3 in HUVECs enhances NO production and inhibits monocyte adhesion positive regulation of leukocyte cell-cell adhesion A process that is part of the mitotic cell cycle. jl 2014-05-22T14:22:34Z biological_process GO:1903047 mitotic cell cycle process The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. cls 2014-06-25T15:47:09Z biological_process GO:1903131 mononuclear cell differentiation Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription. pr 2014-10-01T14:44:47Z biological_process GO:1903506 regulation of nucleic acid-templated transcription Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription. pr 2014-10-01T14:45:04Z up regulation of nucleic acid-templated transcription up-regulation of nucleic acid-templated transcription upregulation of nucleic acid-templated transcription activation of nucleic acid-templated transcription biological_process GO:1903508 positive regulation of nucleic acid-templated transcription The chemical reactions and pathways involving liposaccharide. liposaccharide metabolism liposaccharide metabolic process Any vesicle that is part of the extracellular region. jl 2014-10-22T14:26:11Z cellular_component microparticle GO:1903561 extracellular vesicle Any process that modulates the frequency, rate or extent of hemopoiesis. pad 2014-12-04T15:34:13Z regulation of blood cell biosynthesis regulation of blood cell formation regulation of haemopoiesis regulation of hematopoiesis biological_process GO:1903706 An example of this is Atg7 in mouse (UniProt symbol, Q9D906) in PMID:20080761, inferred from mutant phenotype. regulation of hemopoiesis The process in which an organic acid is transported across a membrane. organic acid transmembrane transport Any process that activates or increases the frequency, rate or extent of vasculature development. sl 2015-03-06T22:17:04Z up regulation of vasculature development up-regulation of vasculature development upregulation of vasculature development activation of vasculature development biological_process activation of vascular system development positive regulation of vascular system development up regulation of vascular system development up-regulation of vascular system development upregulation of vascular system development GO:1904018 positive regulation of vasculature development The process in which glucose is transported across a membrane. glucose transport glucose transmembrane transport The process in which carboxylic acid is transported across a membrane. carboxylic acid transmembrane transport The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. pr 2016-08-04T14:49:43Z cilial transition zone assembly cilial transition zone formation ciliary transition zone formation cilium transition zone assembly cilium transition zone formation biological_process GO:1905349 ciliary transition zone assembly A macromolecular complex that contains both RNA and protein molecules. pr 2015-11-19T12:26:37Z GO:0030529 GO:1990903 Wikipedia:Ribonucleoprotein RNA-protein complex RNP protein-RNA complex extracellular ribonucleoprotein complex intracellular ribonucleoprotein complex cellular_component GO:1990904 ribonucleoprotein complex Any process that modulates the frequency, rate or extent of multicellular organismal development. tb 2010-08-05T11:25:59Z biological_process GO:2000026 regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. tb 2010-09-15T08:55:45Z regulation of cellular biopolymer biosynthetic process regulation of cellular macromolecule anabolism regulation of cellular macromolecule biosynthesis regulation of cellular macromolecule formation regulation of cellular macromolecule synthesis biological_process GO:2000112 regulation of cellular macromolecule biosynthetic process Any process that modulates the frequency, rate or extent of cell motility. mah 2010-10-01T09:41:21Z regulation of cell locomotion regulation of movement of a cell biological_process regulation of cell movement GO:2000145 regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell motility. mah 2010-10-01T09:41:30Z positive regulation of cell locomotion positive regulation of movement of a cell biological_process positive regulation of cell movement GO:2000147 positive regulation of cell motility Any epithelial cell proliferation that is involved in renal tubule morphogenesis. yaf 2011-08-12T11:37:29Z biological_process GO:2001013 epithelial cell proliferation involved in renal tubule morphogenesis Any process that modulates the frequency, rate or extent of RNA biosynthetic process. dph 2011-10-17T11:36:25Z regulation of RNA anabolism regulation of RNA biosynthesis regulation of RNA formation regulation of RNA synthesis biological_process GO:2001141 regulation of RNA biosynthetic process UMLS:C0444868 human_phenotype HP:0000001 Root of all terms in the Human Phenotype Ontology. All Deviation from the norm of height with respect to that which is expected according to age and gender norms. peter 2008-02-27T02:20:00Z UMLS:C4025901 Abnormality of body height human_phenotype HP:0000002 Abnormality of body height Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. HP:0004715 MSH:D021782 SNOMEDCT_US:204962002 SNOMEDCT_US:82525005 UMLS:C3714581 Multicystic dysplastic kidney Multicystic kidneys Multicystic renal dysplasia HP:0000003 Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound. Multicystic kidney dysplasia The pattern in which a particular genetic trait or disorder is passed from one generation to the next. HP:0001453 HP:0001461 UMLS:C1708511 Inheritance human_phenotype HP:0000005 Mode of inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. HP:0001415 HP:0001447 HP:0001448 HP:0001451 HP:0001455 HP:0001456 HP:0001463 SNOMEDCT_US:263681008 UMLS:C0443147 Autosomal dominant human_phenotype Autosomal dominant form Autosomal dominant type HP:0000006 Autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). HP:0001416 HP:0001526 SNOMEDCT_US:258211005 UMLS:C0441748 UMLS:C4020899 Autosomal recessive human_phenotype Autosomal recessive form Autosomal recessive predisposition HP:0000007 Autosomal recessive inheritance Dysfunction of the urinary bladder. HP:0004424 HP:0008731 UMLS:C3806583 Poor bladder function human_phenotype HP:0000009 Functional abnormality of the bladder Repeated infections of the urinary tract. HP:0000094 SNOMEDCT_US:197927001 UMLS:C0262655 Frequent urinary tract infections Recurrent UTIs Repeated bladder infections Repeated urinary tract infections Urinary tract infections Urinary tract infections, recurrent HP:0000010 The urinary tract comprises the kidneys, ureters, a bladder, and a urethra. Recurrent urinary tract infections A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. MSH:D001750 SNOMEDCT_US:397732007 SNOMEDCT_US:398064005 UMLS:C0005697 Lack of bladder control due to nervous system injury human_phenotype HP:0000011 Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause. Neurogenic bladder An abnormality of the urinary bladder. UMLS:C0149632 human_phenotype HP:0000014 Abnormality of the bladder UMLS:C4025898 human_phenotype HP:0000025 Functional abnormality of male internal genitalia Absence of any measurable level of sperm in his semen. MSH:D053713 SNOMEDCT_US:425558002 SNOMEDCT_US:48188009 UMLS:C0004509 Absent sperm in semen human_phenotype HP:0000027 Azoospermia An abnormality of male external genitalia. UMLS:C4025897 human_phenotype HP:0000032 Abnormality of male external genitalia Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. MSH:D058490 SNOMEDCT_US:111332007 UMLS:C0238395 human_phenotype HP:0000037 Male pseudohermaphroditism Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). HP:0003335 HP:0008224 MSH:D007006 SNOMEDCT_US:33927004 UMLS:C0271623 UMLS:C3489396 Hypogonadotrophic hypogonadism Low gonadotropins (secondary hypogonadism) human_phenotype Isolated hypogonadotropic hypogonadism HP:0000044 Hypogonadotropic hypogonadism An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. HP:0006001 UMLS:C1840382 Abnormality of the ureters Ureter issue Ureteral anomalies human_phenotype HP:0000069 Abnormality of the ureter The presence of a stenotic, i.e., constricted ureter. SNOMEDCT_US:95574003 UMLS:C0521618 Narrowing of the ureter human_phenotype HP:0000071 Ureteral stenosis Blockage of urine flow from the renal pelvis to the proximal ureter. MSH:C537373 SNOMEDCT_US:95575002 UMLS:C0521619 Pelviureteric junction obstruction human_phenotype HP:0000074 Ureteropelvic junction obstruction A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. 2008-02-25T12:45:00Z SNOMEDCT_US:30275001 UMLS:C0266298 Extra kidney Supernumerary kidney HP:0000075 Renal duplication An abnormality of the kidney. MSH:D007674 SNOMEDCT_US:44513007 SNOMEDCT_US:90708001 UMLS:C0022658 UMLS:C0266292 Abnormal kidney Abnormality of the kidney Renal anomalies Renal anomaly human_phenotype HP:0000077 The kidney is a paired organ whose primary function is the production of urine. Abnormality of the kidney An abnormality of the genital system. UMLS:C0281966 UMLS:C0744356 Genital abnormalities Genital abnormality Genital anomalies Genital defects human_phenotype Abnormality of the reproductive system HP:0000078 Abnormality of the genital system 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 An abnormal functionality of the genital system. Abnormality of genital physiology UMLS:C4020896 UMLS:C4021820 Abnormality of reproductive system physiology Genital functional abnormality human_phenotype HP:0000080 Abnormality of reproductive system physiology A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. 2008-02-25T12:45:00Z UMLS:C1858565 Double collecting system Double urinary collecting systems on intravenous pyelography Duplex collecting system Duplicated renal collecting system HP:0000081 Duplicated collecting system A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. HP:0000084 HP:0004723 MSH:D051437 SNOMEDCT_US:236423003 SNOMEDCT_US:42399005 UMLS:C0035078 UMLS:C1565489 UMLS:C1839604 Renal failure Renal failure in adulthood HP:0000083 Renal insufficiency A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Fused kidneys Fyler:4507 MSH:D000069337 SNOMEDCT_US:41729002 UMLS:C0221353 Horseshoe kidney Horseshoe kidneys HP:0000085 Horseshoe kidney A developmental defect in which a kidney is located in an abnormal anatomic position. SNOMEDCT_US:16507009 UMLS:C0238207 Abnormal kidney location Displaced kidney Ectopic kidneys Renal ectopia HP:0000086 Ectopic kidney Hypoplasia of the kidney. HP:0001968 HP:0004741 HP:0008641 SNOMEDCT_US:32659003 UMLS:C0266295 Hypoplastic kidney Hypoplastic kidneys Small kidneys Underdeveloped kidneys HP:0000089 Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal. Renal hypoplasia Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. HP:0004748 SNOMEDCT_US:204958008 UMLS:C0687120 juvenile nephronophthisis human_phenotype HP:0000090 Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. Nephronophthisis An abnormality of the renal tubules. UMLS:C4021826 Abnormality of the renal tubule Morphologic abnormality of the renal tubules HP:0000091 The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine. Abnormal renal tubule morphology The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. HP:0005578 UMLS:C1858395 Renal tubular cell atrophy Tubular atrophy HP:0000092 Atrophic tubules must be distinguished from acute tubular injury as both can show extensive tubular epithelial changes. In acute tubular injury, tubules are often dilated and tubular basement membranes are smooth and maintain normal thickness, in contrast to the contracted tubules with thickened and wrinkled tubular basement membranes of tubular atrophy. Further, in acute tubular injury, tubules are usually back-to-back or mildly separated by interstitial edema, while in tubular atrophy tubules can be separated by interstitial fibrosis. Uniform thickening of tubular basement membranes without shrinkage and otherwise healthy epithelial cells can be seen in diabetic nephropathy. Duplication, or lamellation, thickening, and disruption of tubular basement membranes with tubular dilatation can be seen in medullary cystic kidney disease/nephronophthisis. Renal tubular atrophy Increased levels of protein in the urine. MSH:D011507 SNOMEDCT_US:29738008 UMLS:C0033687 High urine protein levels Protein in urine human_phenotype HP:0000093 Proteinuria A structural anomaly of the glomerulus. UMLS:C4025889 Abnormality of renal glomerulus morphology Morphologic abnormality of the renal glomerulus human_phenotype HP:0000095 Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to pass through a barrier that retains high molecular weight proteins and cells in the circulation. Abnormal renal glomerulus morphology Accumulation of scar tissue within the glomerulus. HP:0030761 Renal glomerular fibrosis SNOMEDCT_US:197661001 SNOMEDCT_US:82646005 UMLS:C0178664 Glomerulosclerosis human_phenotype HP:0000096 Glomerular sclerosis Segmental accumulation of scar tissue in individual (but not all) glomeruli. HP:0004747 MSH:D005923 SNOMEDCT_US:236403004 SNOMEDCT_US:25821008 UMLS:C0017668 Focal and segmental glomerular sclerosis Focal and segmental glomerulosclerosis focal glomerulosclerosis HP:0000097 Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). FSGS is characterized by focal and segmental occurrence of lesions with mesangial sclerosis, obliteration of glomerular capillaries with hyalinosis and intracapillary foam cells, formation of adhesions between the glomerular tuft and Bowman's capsule, and podocyte hypertrophy. FSGS is not a disease entity, but rather a pattern of injury with quite diverse clinical behavior, morphology, and possibly also pathogenesis. Focal segmental glomerulosclerosis A height above that which is expected according to age and gender norms. peter 2008-02-27T02:21:00Z HP:0001527 HP:0003515 HP:0003516 SNOMEDCT_US:248328003 UMLS:C0241240 Accelerated linear growth Increased body height Increased linear growth Tall stature human_phenotype HP:0000098 Tall stature Inflammation of the renal glomeruli. MSH:D005921 SNOMEDCT_US:36171008 UMLS:C0017658 Glomerular nephritis human_phenotype HP:0000099 Glomerulonephritis Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. HP:0000801 HP:0004718 HP:0008638 HP:0008727 MSH:D009404 SNOMEDCT_US:52254009 UMLS:C0027726 Nephrosis HP:0000100 In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl. Nephrotic syndrome An increased rate of urine production. HP:0200060 MSH:D011141 SNOMEDCT_US:28442001 SNOMEDCT_US:56574000 SNOMEDCT_US:718402002 UMLS:C0032617 Increased urine output HP:0000103 An excessive volume of urination for an adult is more than 2.5 liters of urine per day. Polyuria Agenesis, that is, failure of the kidney to develop during embryogenesis and development. HP:0000785 HP:0004745 HP:0008680 Fyler:4503 SNOMEDCT_US:204942005 UMLS:C0542519 Absent kidney Missing kidney Renal aplasia HP:0000104 Renal agenesis can occur as a unilateral or bilateral trait. Renal agenesis An abnormal increase in the size of the kidney. SNOMEDCT_US:300444006 UMLS:C0542518 Enlarged kidney Large kidneys Nephromegaly Renal enlargement Large kidney HP:0000105 The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilms tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography. Enlarged kidney A fluid filled sac in the kidney. HP:0000088 HP:0000109 MSH:D052177 UMLS:C0022679 UMLS:C3887499 Kidney cyst human_phenotype Cystic kidney disease Cystic kidneys Renal cysts HP:0000107 Renal cyst The presence of multiple cysts at the border between the renal cortex and medulla. UMLS:C1968619 Corticomedullary renal cysts Renal corticomedullary cystic disease HP:0000108 Renal corticomedullary cysts The presence of developmental dysplasia of the kidney. HP:0000116 HP:0004721 MSH:C563261 SNOMEDCT_US:204949001 UMLS:C1619700 UMLS:C3536714 Dysplastic kidneys Renal adysplasia HP:0000110 Renal dysplasia Increased number and size of the juxtaglomerular cells. UMLS:C1866496 HP:0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia A nonspecific term referring to disease or damage of the kidneys. Kidney damage Kidney disease MSH:D007674 SNOMEDCT_US:90708001 UMLS:C0022658 UMLS:C1408258 human_phenotype HP:0000112 Nephropathy The presence of multiple cysts in both kidneys. HP:0004716 HP:0004739 HP:0004740 HP:0008645 HP:0008673 HP:0008699 Fyler:4508 MSH:D007690 SNOMEDCT_US:82525005 UMLS:C0022680 UMLS:C1567435 Enlarged polycystic kidneys Polycystic kidneys human_phenotype Polycystic kidney disease HP:0000113 Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. Polycystic kidney dysplasia Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. HP:0000806 UMLS:C1839603 Proximal renal tubule defect Proximal renal tubulopathy Proximal tubular defect Proximal tubule dysfunction Selective proximal tubular damage HP:0000114 Proximal tubulopathy 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 Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. MSH:D009397 SNOMEDCT_US:48638002 UMLS:C0027709 UMLS:C4280679 Too much calcium deposited in kidneys Increased calcium level in kidney HP:0000121 Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. Nephrocalcinosis A unilateral form of agenesis of the kidney. Fyler:4509 SNOMEDCT_US:55726006 UMLS:C0266294 Absent kidney on one side Missing one kidney Single kidney Unilateral kidney agenesis HP:0000122 Unilateral renal agenesis The presence of inflammation affecting the kidney. HP:0008634 MSH:D009393 SNOMEDCT_US:52845002 UMLS:C0027697 Kidney inflammation human_phenotype HP:0000123 Nephritis Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. SNOMEDCT_US:95568003 UMLS:C0151747 Abnormal function of filtrating structures in kidney Renal tubular defect Renal tubular disease HP:0000124 Renal tubular dysfunction A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. SNOMEDCT_US:56108007 UMLS:C0221209 Sacral kidney HP:0000125 Pelvic kidney Severe distention of the kidney with dilation of the renal pelvis and calices. Fyler:4502 MSH:D006869 SNOMEDCT_US:43064006 UMLS:C0020295 HP:0000126 Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed. Hydronephrosis HP:0003243 MSH:D006059 MSH:D006060 SNOMEDCT_US:205681004 SNOMEDCT_US:38804009 SNOMEDCT_US:83579008 SNOMEDCT_US:95219002 UMLS:C0018051 UMLS:C0018055 UMLS:C0687149 Mixed gonadal dysgenesis Pure gonadal dysgenesis human_phenotype HP:0000133 Gonadal dysgenesis A decreased functionality of the gonad. MSH:D007006 SNOMEDCT_US:48130008 UMLS:C0020619 Decreased activity of gonads human_phenotype HP:0000135 Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. Hypogonadism SNOMEDCT_US:17276009 UMLS:C0520927 Abnormal fertility Decreased fertility human_phenotype HP:0000144 Decreased fertility 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 Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. UMLS:C4025887 Abnormality of the oral cavity human_phenotype HP:0000163 Abnormal oral cavity morphology The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. SNOMEDCT_US:253983005 SNOMEDCT_US:66948001 UMLS:C0158646 UMLS:C4021813 Cleft of the mouth Oral clefting Cleft lip, cleft palate human_phenotype Cleft lip/palate HP:0000202 Oral cleft An abnormality of the head. UMLS:C4021812 Abnormal head Abnormality of the head Head abnormality human_phenotype HP:0000234 Abnormality of the head Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. HP:0007189 HP:0008503 MSH:D006849 SNOMEDCT_US:230745008 UMLS:C0020255 Hydrocephaly Nonsyndromal hydrocephalus Too much cerebrospinal fluid in the brain human_phenotype HP:0000238 Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. Hydrocephalus Any abnormality of the size of the skull. Abnormality of head size UMLS:C4025874 Abnormality of cranium size Abnormality of skull size human_phenotype HP:0000240 Abnormality of skull size Head circumference below 2 standard deviations below the mean for age and gender. HP:0001366 HP:0005485 HP:0005489 HP:0005497 Abnormally small head Decreased size of head Small head Small skull Fyler:4310 SNOMEDCT_US:271611007 UMLS:C0424688 Abnormally small cranium Abnormally small skull Decreased circumference of cranium Decreased size of cranium Decreased size of skull Reduced head circumference Small head circumference small calvarium small cranium human_phenotype HP:0000252 Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly 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 A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. HP:0000624 HP:0007930 UMLS:C0678230 Epicanthal fold Epicanthal folds Epicanthic folds Eye folds Palpebronasal fold Plica palpebronasalis Prominent eye folds human_phenotype HP:0000286 In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. Epicanthus 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 An abnormality of the inner ear. UMLS:C4021809 Abnormality of the inner ear Inner ear abnormality human_phenotype HP:0000359 Abnormality of the inner ear 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 Deafness Hearing defect Hearing impairment Hypacusis 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 A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. HP:0000374 HP:0001753 HP:0001916 HP:0008538 HP:0008553 HP:0008565 HP:0008576 HP:0008611 HP:0008613 HP:0008614 MSH:D006319 SNOMEDCT_US:60700002 UMLS:C0018784 Hearing loss, sensorineural Sensorineural deafness Sensorineural hearing loss human_phenotype HP:0000407 Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). Sensorineural hearing impairment 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 A structural abnormality of the retina. HP:0007938 MSH:D012164 SNOMEDCT_US:29555009 UMLS:C0035300 UMLS:C0035309 Abnormal retina Abnormality of the retina Anomaly of the retina Retina issue human_phenotype Retinal disease HP:0000479 Abnormal retinal morphology A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. HP:0000487 MSH:D013285 SNOMEDCT_US:128602000 SNOMEDCT_US:22066006 UMLS:C0038379 Cross-eyed Squint Squint eyes human_phenotype HP:0000486 Strabismus An abnormality of the eyelids. HP:0000285 UMLS:C4021803 Abnormality of the eyelid Abnormality of the eyelids human_phenotype HP:0000492 Abnormal eyelid morphology An abnormality in voluntary or involuntary eye movements or their control. HP:0006860 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 An abnormality of the eyelashes. HP:0004530 UMLS:C2675111 Abnormal eyelashes Abnormality of the eyelashes Eyelash abnormality human_phenotype HP:0000499 Abnormal eyelash morphology Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. MSH:D005901 SNOMEDCT_US:23986001 UMLS:C0017601 human_phenotype HP:0000501 The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. Glaucoma 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 The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). MSH:D001763 SNOMEDCT_US:11934000 UMLS:C0005745 Blepharoptosis Drooping upper eyelid Eyelid ptosis human_phenotype Eye drop HP:0000508 Ptosis An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. UMLS:C4025845 Abnormality of the iris human_phenotype HP:0000525 Abnormality iris morphology Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. HP:0011498 MSH:D015783 SNOMEDCT_US:69278003 UMLS:C0003076 Absent iris human_phenotype HP:0000526 Aniridia Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. UMLS:C1845274 Disconjugate eye movements human_phenotype HP:0000549 Abnormal conjugate eye movement An abnormality of the uvea, the vascular layer of the eyeball. UMLS:C4025842 Abnormality of the uvea human_phenotype HP:0000553 Abnormal uvea morphology Inflammation of one or all portions of the uveal tract. MSH:D014605 SNOMEDCT_US:128473001 UMLS:C0042164 human_phenotype HP:0000554 The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. Uveitis Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. HP:0007736 HP:0007910 HP:0007974 HP:0007982 MSH:D058499 SNOMEDCT_US:314407005 UMLS:C0854723 Breakdown of light-sensitive cells in back of eye human_phenotype HP:0000556 Retinal dystrophy 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 Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation. HP:0007839 Fyler:4866 MSH:D001766 SNOMEDCT_US:65956007 UMLS:C0271215 UMLS:C0456909 Blindness Total vision loss human_phenotype Legal blindness HP:0000618 Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. Blindness 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 A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. HP:0002274 HP:0007122 HP:0007150 HP:0007283 MSH:D003704 SNOMEDCT_US:52448006 UMLS:C0497327 Dementia Dementia, progressive Progressive dementia human_phenotype HP:0000726 Dementia The presence of calculi (stones) in the kidneys. HP:0000102 MSH:D053040 UMLS:C0392525 Kidney stones Renal calculi Renal stones HP:0000787 Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. The resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter. Nephrolithiasis MSH:D007246 SNOMEDCT_US:15296000 SNOMEDCT_US:8619003 UMLS:C0021359 Infertility human_phenotype HP:0000789 Infertility The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). High urine occult blood MSH:D006417 SNOMEDCT_US:34436003 SNOMEDCT_US:53298000 UMLS:C0018965 Blood in urine HP:0000790 Hematuria The presence of uric acid-containing calculi (stones) in the kidneys. SNOMEDCT_US:267441009 UMLS:C0403719 Uric acid stones Uric acid urolithiasis HP:0000791 Uric acid nephrolithiasis A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity MSH:D015432 SNOMEDCT_US:80321008 UMLS:C0017662 MPGN Mesangiocapillary glomerulonephritis HP:0000793 Membranoproliferative glomerulonephritis The presence of immunoglobulin A deposits in the glomerulus. MSH:D005922 SNOMEDCT_US:236407003 SNOMEDCT_US:68779003 UMLS:C0017661 UMLS:C4025827 IgA nephropathy HP:0000794 IgA deposition in the glomerulus Abnormal fat accumulation in the kidneys. UMLS:C4021796 Fatty kidney HP:0000799 Renal steatosis HP:0008737 UMLS:C1834931 Bilateral cystic dysplasia Renal cystic dysplasia Renal dysplasia, cystic HP:0000800 Cystic renal dysplasia Cysts of the cortex of the kidney. UMLS:C1969144 Cortical cysts HP:0000803 Renal cortical cysts The presence of xanthine-containing calculi (stones) in the kidneys. UMLS:C1848431 Urinary xanthine stones Xanthine stones HP:0000804 Xanthine nephrolithiasis UMLS:C4025825 Abnormal external genitalia human_phenotype HP:0000811 Abnormal external genitalia An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). UMLS:C4025824 Abnormal internal genitalia human_phenotype HP:0000812 Abnormal internal genitalia 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 presence of chronic increased pressure in the systemic arterial system. HP:0004949 HP:0005126 MSH:D006973 SNOMEDCT_US:24184005 SNOMEDCT_US:38341003 UMLS:C0020538 UMLS:C0497247 Arterial hypertension Systemic hypertension human_phenotype High blood pressure HP:0000822 Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. Hypertension An abnormality of the parathyroid gland. MSH:D010279 SNOMEDCT_US:73132005 UMLS:C0030517 UMLS:C4025822 human_phenotype Parathyroid disease HP:0000828 There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone. Abnormality of the parathyroid gland A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. HP:0000856 HP:0008292 MSH:D007011 SNOMEDCT_US:36976004 UMLS:C0020626 Decreased parathyroid hormone secretion Low parathyroid hormone human_phenotype HP:0000829 Hypoparathyroidism Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. MSH:D000307 SNOMEDCT_US:30171000 UMLS:C0001621 UMLS:C4021794 Adrenal abnormalities human_phenotype Adrenal gland disease HP:0000834 Abnormality of the adrenal glands Excessive production of parathyroid hormone (PTH) by the parathyroid glands. MSH:D006961 SNOMEDCT_US:66999008 UMLS:C0020502 Elevated blood parathyroid hormone level human_phenotype HP:0000843 Hyperparathyroidism An abnormality of the renin-angiotensin system. HP:0003350 UMLS:C4021793 Abnormality of the renin-aldosterone axis human_phenotype HP:0000847 The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance. Abnormality of renin-angiotensin system Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. MSH:D007333 SNOMEDCT_US:48606007 UMLS:C0021655 Body fails to respond to insulin human_phenotype HP:0000855 Insulin resistance 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 skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. UMLS:C0235942 Abnormality of the skull Abnormality of the skull bones human_phenotype HP:0000929 Abnormal skull morphology An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. HP:0007306 UMLS:C3280768 Abnormality of the posterior cranial fossa Abnormality of the posterior fossa Posterior fossa anomaly human_phenotype HP:0000932 The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography. Abnormal posterior cranial fossa morphology Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean. Osteoporosis 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 Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. MSH:D007565 SNOMEDCT_US:18165001 UMLS:C0022346 Icterus Jaundice Yellow skin Yellowing of the skin human_phenotype HP:0000952 Jaundice A darkening of the skin related to an increase in melanin production and deposition. HP:0007527 MSH:D017495 SNOMEDCT_US:4830009 SNOMEDCT_US:49765009 UMLS:C0162834 Cutaneous hyperpigmentation Hyperpigmented lesion Increased skin pigmentation Patchy darkened skin Skin hyperpigmentation human_phenotype Melanoderma Melanodermia HP:0000953 Hyperpigmentation of the skin Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. Eczema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. HP:0000990 MSH:D004487 SNOMEDCT_US:20741006 SNOMEDCT_US:267038008 SNOMEDCT_US:423666004 SNOMEDCT_US:79654002 UMLS:C0013604 Dropsy Fluid retention Hydrops Oedema Water retention human_phenotype HP:0000969 Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. Edema An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. HP:0005594 HP:0006831 HP:0007538 MSH:D010787 SNOMEDCT_US:90128006 UMLS:C0349506 Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity human_phenotype HP:0000992 Cutaneous photosensitivity An abnormality of the pigmentation of the skin. HP:0007582 HP:0200045 UMLS:C1260926 Abnormal pigmentation Abnormal skin color Abnormal skin pigmentation Abnormality of pigmentation Abnormality of skin pigmentation Pigmentary changes Pigmentary skin changes Pigmentation anomaly human_phenotype HP:0001000 Abnormality of skin pigmentation UMLS:C4025812 human_phenotype HP:0001005 Dermatological manifestations of systemic disorders Laminar thickening of skin. HP:0007393 MEDDRA:10040936 SNOMEDCT_US:17417006 SNOMEDCT_US:69943009 UMLS:C0334008 UMLS:C4020878 Pachydermia Thick skin Thickened skin human_phenotype Diffusely thickened skin HP:0001072 Thickened skin Any structural abnormality of the fundus of the eye. UMLS:C4025804 Abnormality of the fundus human_phenotype HP:0001098 Abnormal fundus morphology A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. SNOMEDCT_US:312999006 UMLS:C0730362 Abnormality of the macula Macula abnormality Macular abnormality human_phenotype HP:0001103 The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. Abnormal macular morphology Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. HP:0001189 HP:0001201 HP:0005630 HP:0005657 HP:0005727 HP:0006017 HP:0006128 HP:0100667 MSH:D059327 SNOMEDCT_US:43476002 UMLS:C0221357 Brachydactyly syndrome Short fingers or toes human_phenotype HP:0001156 Brachydactyly An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. UMLS:C4025797 Abnormality of prenatal development or birth human_phenotype HP:0001197 Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. Abnormality of prenatal development or birth Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. HP:0000730 HP:0001267 HP:0001286 HP:0002122 HP:0002192 HP:0002316 HP:0002382 HP:0002386 HP:0002402 HP:0002458 HP:0002482 HP:0002499 HP:0002543 HP:0003767 HP:0006833 HP:0006877 HP:0007154 HP:0007176 HP:0007180 MSH:D008607 SNOMEDCT_US:228156007 SNOMEDCT_US:247578003 SNOMEDCT_US:91138005 UMLS:C0025362 UMLS:C0423903 UMLS:C0917816 UMLS:C1843367 UMLS:C3714756 UMLS:C4020876 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation Nonprogressive intellectual disability Nonprogressive mental retardation human_phenotype Dull intelligence Low intelligence Poor school performance HP:0001249 This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). Intellectual disability A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. HP:0001275 HP:0001303 HP:0002125 HP:0002182 HP:0002279 HP:0002306 HP:0002348 HP:0002391 HP:0002417 HP:0002430 HP:0002431 HP:0002432 HP:0002434 HP:0002437 HP:0002466 HP:0002479 HP:0002794 HP:0006997 HP:0010520 MSH:D004827 MSH:D012640 SNOMEDCT_US:128613002 SNOMEDCT_US:246545002 SNOMEDCT_US:313307000 SNOMEDCT_US:84757009 SNOMEDCT_US:91175000 UMLS:C0014544 UMLS:C0036572 Epileptic seizure Seizures human_phenotype Epilepsy HP:0001250 A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. Seizure Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). HP:0001253 HP:0002513 HP:0007050 HP:0007157 MSH:D002524 SNOMEDCT_US:85102008 UMLS:C0007758 Cerebellar ataxia human_phenotype HP:0001251 Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. Ataxia A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. MSH:D009128 SNOMEDCT_US:221360009 SNOMEDCT_US:397790002 UMLS:C0026838 Involuntary muscle stiffness, contraction, or spasm Muscle spasticity Muscular spasticity human_phenotype HP:0001257 Spasticity Loss of previously present mental abilities, generally in adults. HP:0002303 HP:0006822 HP:0007155 HP:0007253 HP:0007264 HP:0007298 MSH:D060825 UMLS:C0234985 Cognitive decline Cognitive decline, progressive Intellectual deterioration Mental deterioration Progressive cognitive decline human_phenotype HP:0001268 Mental deterioration A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. HP:0002388 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 A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. HP:0001313 HP:0006809 MSH:D003616 SNOMEDCT_US:14447001 UMLS:C0010964 Dandy-Walker cyst Dandy-walker anomaly human_phenotype HP:0001305 Dandy-Walker malformation Any structural abnormality of the cerebellum. UMLS:C0742038 UMLS:C1866129 Abnormality of the cerebellum Cerebellar abnormalities Cerebellar abnormality Cerebellar anomaly Cerebellar signs human_phenotype HP:0001317 A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors. Abnormal cerebellum morphology Underdevelopment of the vermis of cerebellum. UMLS:C1840379 Cerebellar vermal hypoplasia Hypoplasia of the cerebellar vermis Hypoplastic cerebellar vermis human_phenotype HP:0001320 Cerebellar vermis hypoplasia Reduced strength of muscles. HP:0002309 HP:0008979 HP:0009012 HP:0009061 MSH:D018908 SNOMEDCT_US:26544005 UMLS:C0151786 Muscle weakness Muscular weakness human_phenotype HP:0001324 It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. Muscle weakness An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. MSH:D007592 SNOMEDCT_US:399269003 UMLS:C0022408 UMLS:C0240083 Abnormal shape of joints Abnormality of the joints Anomaly of the joints human_phenotype Joint disease HP:0001367 Abnormal joint morphology Inflammation of a joint. MSH:D001168 SNOMEDCT_US:3723001 UMLS:C0003864 Arthritis Joint inflammation human_phenotype HP:0001369 Arthritis An abnormality of the liver. MSH:D008107 SNOMEDCT_US:235856003 UMLS:C0023895 UMLS:C4021780 Abnormal liver Abnormality of the liver Liver abnormality human_phenotype Liver disease HP:0001392 Abnormality of the liver Impairment of bile flow due to obstruction in bile ducts. MSH:D002779 SNOMEDCT_US:197446008 SNOMEDCT_US:30144000 SNOMEDCT_US:33688009 UMLS:C0008370 Slowed or blocked flow of bile from liver human_phenotype HP:0001396 Cholestasis A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. HP:0001418 MSH:D050172 SNOMEDCT_US:263934009 UMLS:C0241764 X-linked human_phenotype X-linked form HP:0001417 X-linked inheritance Simultaneous enlargement of the liver and spleen. peter 2008-02-20T10:51:00Z SNOMEDCT_US:36760000 UMLS:C0019214 Enlarged liver and spleen human_phenotype HP:0001433 Hepatosplenomegaly A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. UMLS:C4020869 Abnormality of abdomen morphology Abnormality of abdomen structure Abnormality of the abdomen human_phenotype Abdomen abnormality HP:0001438 Abnormal abdomen morphology HP:0008904 UMLS:C0262361 Abnormal growth Growth abnormality Growth issue human_phenotype HP:0001507 Growth abnormality A deficiency or slowing down of growth pre- and postnatally. HP:0001434 HP:0001512 HP:0001514 HP:0001517 HP:0001532 HP:0008847 HP:0008870 HP:0008886 HP:0008893 HP:0008926 SNOMEDCT_US:276617005 SNOMEDCT_US:444896005 SNOMEDCT_US:59576002 UMLS:C0151686 UMLS:C0456070 UMLS:C0878787 UMLS:C1837385 UMLS:C3552463 Delayed growth Growth deficiency Growth delay Growth failure Growth retardation Poor growth Retarded growth human_phenotype Very poor growth HP:0001510 Poor or abnormally slow gains in weight or height in a child. Growth delay Accumulation of substantial excess body fat. MSH:D009765 SNOMEDCT_US:414915002 SNOMEDCT_US:414916001 UMLS:C0028754 Having too much body fat Obesity human_phenotype HP:0001513 Obesity Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. UMLS:C1849265 UMLS:C1851731 UMLS:C3150281 General overgrowth human_phenotype Generalized overgrowth HP:0001548 Overgrowth 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 An abnormality of the hair. UMLS:C0157733 UMLS:C2677869 Abnormality of the hair Hair abnormality Abnormality of the hair shaft human_phenotype HP:0001595 Abnormal hair morphology Abnormality of the nail. MSH:D009260 MSH:D009264 SNOMEDCT_US:17790008 UMLS:C0027339 UMLS:C0853087 Abnormality of the nail human_phenotype Nail disease HP:0001597 Abnormality of the fingernails and/or toenails. Abnormality of the nail Any abnormality of the cardiovascular system. HP:0003116 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 Any structural anomaly of the heart. HP:3000001 MSH:D006330 SNOMEDCT_US:13213009 UMLS:C0018798 UMLS:C0152021 Abnormality of cardiac morphology Abnormality of the heart Abnormally shaped heart Cardiac abnormality Cardiac anomalies Cardiac anomaly Congenital heart defect Congenital heart defects Heart defect human_phenotype HP:0001627 Abnormal heart morphology The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. HP:0006686 MSH:D006333 SNOMEDCT_US:42343007 SNOMEDCT_US:84114007 UMLS:C0018801 UMLS:C0018802 CHF Cardiac failure Cardiac failures Cardiac insufficiency Chronic heart failure Heart failure human_phenotype HP:0001635 Congestive heart failure The presence of a stenosis (narrowing) of the aortic valve. HP:0005140 Fyler:1411 MSH:D001024 SNOMEDCT_US:60573004 UMLS:C0003507 Aortic stenosis Narrowing of aortic valve Valvular aortic stenosis human_phenotype HP:0001650 Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. Aortic valve stenosis A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. SNOMEDCT_US:204296002 SNOMEDCT_US:26146002 UMLS:C3536741 Transposition of great vessels human_phenotype HP:0001669 Transposition of the great arteries An abnormality of the aorta. HP:0030963 Fyler:1453 UMLS:C4025756 Abnormal aorta morphology Abnormality of the aorta human_phenotype HP:0001679 Abnormal aortic morphology A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. UMLS:C1853238 Conotruncal heart defects human_phenotype HP:0001710 Conotruncal defect An abnormality of the pancreas. MSH:D010182 SNOMEDCT_US:3855007 UMLS:C0030286 UMLS:C4025751 Abnormality of the pancreas human_phenotype Pancreatic disease HP:0001732 Abnormality of the pancreas An abnormality of the spleen. UMLS:C4025749 Abnormality of the spleen human_phenotype HP:0001743 The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system. Abnormality of the spleen The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. MSH:D015160 SNOMEDCT_US:276508000 UMLS:C0020305 human_phenotype HP:0001789 The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms. Hydrops fetalis 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 reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). MSH:D010198 SNOMEDCT_US:127034005 UMLS:C0030312 Low blood cell count human_phenotype HP:0001876 Pancytopenia Any structural abnormality of erythrocytes (red-blood cells). HP:0010973 SNOMEDCT_US:12222001 UMLS:C0391870 UMLS:C4020862 Abnormality of erythrocytes Abnormality of red blood cells human_phenotype Abnormality of erythroid lineage cell HP:0001877 Abnormal erythrocyte morphology 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 A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). SNOMEDCT_US:48713002 UMLS:C0268382 HP:0001917 In the kidney, amyloid deposits may be found in any of the parenchymal compartments, including glomeruli, tubules, interstitium and/or vessels. Glomeruli are most commonly involved. In most instances, amyloid accumulation involves the mesangium before the capillary walls. In early cases, the process can be subtle and involves only a few mesangial regions and therefore can easily be missed by routine histologic evaluation. More extensive involvement results in marked expansion of the mesangium, which can take on a nodular appearance and mimic mesangial sclerotic processes such as diabetic glomerulosclerosis. However, the often negative staining with PAS and JMS is more typical of amyloid. Renal amyloidosis Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). MSH:D058186 SNOMEDCT_US:14350001000004108 SNOMEDCT_US:14669001 UMLS:C0022660 UMLS:C2609414 Acute kidney failure Acute renal failure HP:0001919 Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. Acute kidney injury The presence of stenosis of the renal artery. Fyler:2634 MSH:D012078 SNOMEDCT_US:282664001 SNOMEDCT_US:302233006 UMLS:C0035067 Narrowing of kidney artery human_phenotype HP:0001920 Renal artery stenosis HP:0002146 HP:0004355 HP:0004367 UMLS:C4021768 Laboratory abnormality Metabolism abnormality human_phenotype HP:0001939 Abnormality of metabolism/homeostasis Abnormal acid accumulation or depletion of base. HP:0001940 MSH:D000138 SNOMEDCT_US:51387008 UMLS:C0001122 human_phenotype HP:0001941 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. Acidosis Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. HP:0004895 HP:0004907 MSH:D000138 SNOMEDCT_US:59455009 UMLS:C0220981 HP:0001942 The Henderson-Hasselbalch method defines metabolic acidosis by the presence of an acid-base imbalance associated with a plasma bicarbonate concentration below 20 mmol/L. The association of this imbalance with decreased pH is called acidemia, which is often described as severe when the pH is equal to or below 7.20. Arterial blood gas measurements can be performed in patients with a decreased plasma bicarbonate level so as to eliminate respiratory alkalosis, confirm the diagnosis of metabolic acidosis, and test for mixed acidosis. Metabolic acidosis Elevated body temperature due to failed thermoregulation. Fever Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. MSH:D000141 SNOMEDCT_US:1776003 UMLS:C0001126 Accumulation of acid in body due to kidney problem HP:0001947 Renal tubular acidosis Excessive thirst manifested by excessive fluid intake. MSH:D059606 SNOMEDCT_US:17173007 SNOMEDCT_US:267026004 UMLS:C0085602 Extreme thirst human_phenotype HP:0001959 Polydipsia An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. UMLS:C4025733 Abnormality glomerular mesangium morphology Abnormality of the glomerular mesangium Mesangial abnormality human_phenotype HP:0001966 Mesangial cells constitute the central stalk of the glomerulus and are in continuity with the extraglomerular mesangium and the juxtaglomerular apparatus. They have contractile properties generated by anchoring filaments to glomerular basement membrane opposite podocyte foot processes and at the paramesangial angles, thereby assisting in the maintenance of capillary organization and convolution. On the capillary lumen side, mesangial cells are in direct contact with endothelial cells without an intervening basement membrane. Abnormal glomerular mesangium morphology Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. HP:0004728 MSH:C537346 SNOMEDCT_US:111406002 UMLS:C0268747 Diffuse mesangial sclerosis glomerulopathy Mesangial sclerosis human_phenotype HP:0001967 This finding can be demonstrated by renal biopsy. Diffuse mesangial sclerosis An abnormality that involves the tubules and interstitial tissue of the kidney. HP:0008654 MSH:D009395 SNOMEDCT_US:28689008 SNOMEDCT_US:428255004 UMLS:C0041349 UMLS:C4025732 Tubulointerstitial abnormality Tubulointerstitial nephropathy HP:0001969 Abnormal tubulointerstitial morphology A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. MSH:D009395 SNOMEDCT_US:28689008 SNOMEDCT_US:428255004 UMLS:C0041349 Interstitial nephritis Nephritis, Tubulointerstitial HP:0001970 Tubulointerstitial nephritis An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. MSH:D005198 SNOMEDCT_US:236468006 SNOMEDCT_US:44673006 UMLS:C0341703 De toni-fanconi-debre syndrome Renal tubular fanconi syndrome HP:0001994 Renal Fanconi syndrome Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. HP:0001368 MSH:D006073 MSH:D015210 SNOMEDCT_US:170733007 SNOMEDCT_US:190828008 SNOMEDCT_US:48440001 SNOMEDCT_US:90560007 UMLS:C0003868 UMLS:C0018099 Gouty arthritis human_phenotype HP:0001997 Gout 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 Morphological abnormality of the central nervous system human_phenotype Central nervous system disease HP:0002011 Morphological central nervous system abnormality An abnormality of the viscera of the abdomen. UMLS:C4021764 Abnormality of the abdominal organs Gastrointestinal tract defects human_phenotype HP:0002012 The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. Abnormality of the abdominal organs Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. MEDDRA:10047700 MSH:D014839 SNOMEDCT_US:249497008 SNOMEDCT_US:300359004 SNOMEDCT_US:422400008 UMLS:C0042963 Emesis Throwing up Vomiting human_phenotype HP:0002013 Vomiting Abnormally increased frequency of loose or watery bowel movements. MSH:D003967 SNOMEDCT_US:267060006 SNOMEDCT_US:62315008 UMLS:C0011991 Diarrhea Diarrhoea Watery stool human_phenotype HP:0002014 Diarrhea Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. SNOMEDCT_US:16932000 UMLS:C0027498 Nausea and vomiting human_phenotype HP:0002017 Nausea and vomiting A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Gastroesophageal reflux An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Gastro pain Gastrointestinal pain MEDDRA:10000081 MSH:D015746 SNOMEDCT_US:21522001 UMLS:C0000737 Abdominal pain Pain in stomach Stomach pain human_phenotype Abdominal discomfort Upset stomach HP:0002027 Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. Abdominal pain A lack or loss of appetite for food (as a medical condition). Anorexia Atrophy of the cortex of the kidney. UMLS:C4025730 HP:0002048 Renal cortical atrophy A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. MSH:D000141 SNOMEDCT_US:24790002 UMLS:C0268435 Proximal tubular acidosis Renal tubular acidosis, proximal Renal tubular acidosis, type II HP:0002049 Proximal renal tubular acidosis Any structural abnormality of the telencephalon, which is also known as the cerebrum. UMLS:C4021762 Abnormality of the cerebrum Abnormality of the telencephalon human_phenotype HP:0002060 Abnormal cerebral morphology 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 Difficult or labored breathing. MSH:D004417 SNOMEDCT_US:230145002 SNOMEDCT_US:267036007 UMLS:C0013404 Abnormal breathing Breathing difficulty Difficult to breathe Dyspnoea Trouble breathing human_phenotype HP:0002094 Dyspnea Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. HP:0002112 MSH:D001249 SNOMEDCT_US:195967001 SNOMEDCT_US:991000119106 UMLS:C0004096 UMLS:C3714497 Asthma Bronchial asthma human_phenotype Reactive airway disease HP:0002099 Asthma Abnormality of the cerebral ventricles. UMLS:C4025724 human_phenotype HP:0002118 Abnormality of the cerebral ventricles An increase in size of the ventricular system of the brain. HP:0002447 HP:0005691 HP:0007071 UMLS:C3278923 Cerebral ventricular dilatation Dilated cerebral ventricle Dilated cerebral ventricles Dilated ventricles Enlarged cerebral ventricles Enlarged ventricles Enlarged ventricular system Large cerebral ventricles and cisternae Ventricular dilatation human_phenotype HP:0002119 Ventriculomegaly An abnormally high level of uric acid in the blood. MSH:D033461 SNOMEDCT_US:35885006 UMLS:C0740394 High blood uric acid level Hyperuricaemia human_phenotype HP:0002149 Hyperuricemia MSH:D053565 SNOMEDCT_US:71938000 UMLS:C0020438 Elevated urine calcium levels Hypercalcinuria human_phenotype HP:0002150 Hypercalciuria An increased concentration of nitrogen compounds in the blood. MSH:D053099 SNOMEDCT_US:445009001 UMLS:C0242528 Azotaemia human_phenotype HP:0002157 Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. Azotemia An abnormal dilatation of the fourth cerebral ventricle. HP:0007223 UMLS:C1847117 Enlarged fourth ventricle human_phenotype HP:0002198 Dilated fourth ventricle Hemorrhage affecting the gastrointestinal tract. MSH:D006471 SNOMEDCT_US:74474003 UMLS:C0017181 GI hemorrhage Gastrointestinal bleeding Gastrointestinal haemorrhage human_phenotype HP:0002239 Gastrointestinal hemorrhage Abnormally increased size of the liver. HP:0001393 HP:0001398 MSH:D006529 SNOMEDCT_US:80515008 UMLS:C0019209 Enlarged liver human_phenotype HP:0002240 Hepatomegaly An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. HP:0002628 MSH:D007410 SNOMEDCT_US:85919009 UMLS:C0021831 Abnormality of the intestine Enteropathy human_phenotype HP:0002242 Abnormal intestine morphology Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Headache Excessive daytime sleepiness. Drowsiness An anomaly of the vermis of cerebellum. UMLS:C4025712 human_phenotype HP:0002334 The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres. Abnormality of the cerebellar vermis UMLS:C1847762 Cerebellar cysts human_phenotype HP:0002350 Cerebellar cyst UMLS:C4025708 human_phenotype HP:0002438 Cerebellar malformation 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 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 A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. Plaque build-up in arteries MSH:D050197 SNOMEDCT_US:38716007 UMLS:C0004153 UMLS:C4280569 Atherosclerotic cardiovascular disease Narrowing and hardening of arteries HP:0002621 Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon. Atherosclerosis Inflammation of blood vessel. MSH:D014657 SNOMEDCT_US:31996006 UMLS:C0042384 Angiitis Inflammation of blood vessel human_phenotype HP:0002633 Vasculitis Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. Hardened artery wall MSH:D001161 SNOMEDCT_US:107671003 SNOMEDCT_US:28960008 SNOMEDCT_US:72092001 UMLS:C0003850 UMLS:C4280568 HP:0002634 Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries. Arteriosclerosis 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 (tumor). HP:0003008 HP:0006741 Abnormal tissue mass MSH:D009369 NCIT:C3262 SNOMEDCT_US:108369006 SNOMEDCT_US:363346000 UMLS:C0006826 UMLS:C0027651 Neoplasia Oncological abnormality Tumor Tumour 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 The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. HP:0000115 MSH:D009396 NCIT:C40407 SNOMEDCT_US:25081006 SNOMEDCT_US:302849000 UMLS:C0027708 Wilms tumor Wilms tumour HP:0002667 Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblastoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever. Nephroblastoma An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. UMLS:C4025688 Abnormality of cranial base Abnormality of the skull base human_phenotype HP:0002693 Abnormality of the skull base 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 Enlargment (swelling) of a lymph node. HP:0002735 MSH:D000072281 SNOMEDCT_US:30746006 UMLS:C0497156 Lymph node hyperplasia Swollen lymph nodes human_phenotype HP:0002716 Lymphadenopathy peter 2008-02-25T10:41:00Z UMLS:C4025685 human_phenotype HP:0002717 Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. Adrenal overactivity Increased susceptibility to infections. HP:0002957 HP:0002964 HP:0005405 UMLS:C0239998 Frequent infections Frequent, severe infections Increased frequency of infection Predisposition to infections Recurrent infections Susceptibility to infection infections, recurrent HP:0002719 Recurrent infections Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. HP:0005362 HP:0005371 MSH:D007153 SNOMEDCT_US:234532001 UMLS:C0021051 Decreased immune function Immune deficiency human_phenotype HP:0002721 Immunodeficiency A lymph node abnormality. HP:0008149 UMLS:C0149727 Abnormal lymph node histology Abnormality of the lymph nodes human_phenotype HP:0002733 Abnormality of the lymph nodes 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 Any abnormality of bones of the arms or legs. UMLS:C4082761 Abnormal shape of limb bone Arm and/or leg bone differences Limb abnormality human_phenotype HP:0002813 Abnormality of limb bone morphology Joint pain. MSH:D018771 SNOMEDCT_US:57676002 UMLS:C0003862 Arthralgias Joint pain human_phenotype Arthritic pain Joint pains HP:0002829 Arthralgia MSH:D009373 UMLS:C0027654 Embryonal neoplasia Embryonal tumors Embryonal tumours HP:0002898 Embryonal neoplasm An abnormally increased phosphate concentration in the blood. MSH:D054559 SNOMEDCT_US:20165001 UMLS:C0085681 UMLS:C0553706 High blood phosphate levels human_phenotype HP:0002905 Hyperphosphatemia Microscopic hematuria detected by dipstick or microscopic examination of the urine. SNOMEDCT_US:197940006 UMLS:C0239937 Microhematuria Occult hematuria Small amount of blood in urine HP:0002907 Microscopic hematuria 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 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 The occurrence of an immune reaction against the organism's own cells or tissues. MSH:D001327 SNOMEDCT_US:85828009 UMLS:C0004364 Autoimmune condition Autoimmune disease Autoimmune disorder Autoimmunity human_phenotype HP:0002960 Autoimmunity Absence or underdevelopment of tissue in the central nervous system. peter 2008-03-31T05:13:00Z HP:0001323 UMLS:C4025665 Absent/underdeveloped central nervous system tissue Aplasia/Hypoplasia involving the CNS human_phenotype HP:0002977 Aplasia/Hypoplasia involving the central nervous system 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 An abnormally increased calcium concentration in the blood. MSH:D006934 SNOMEDCT_US:166702002 SNOMEDCT_US:66931009 UMLS:C0020437 High blood calcium levels Hypercalcaemia Increased calcium in blood human_phenotype HP:0003072 Hypercalcemia Reduction in the concentration of albumin in the blood. Low albumin MSH:D034141 SNOMEDCT_US:119247004 UMLS:C0239981 Hypoalbuminaemia Low blood albumin human_phenotype HP:0003073 Hypoalbuminemia An increased concentration of glucose in the blood. MSH:D006943 SNOMEDCT_US:237598005 SNOMEDCT_US:80394007 UMLS:C0020456 High blood glucose High blood sugar human_phenotype HP:0003074 Hyperglycemia An increased concentration of glucose in the urine. HP:0003122 MSH:D006029 SNOMEDCT_US:45154002 UMLS:C0017979 Glucose in urine Glucosuria human_phenotype HP:0003076 Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. Glycosuria An abnormality of the composition of urine or the levels of its components. HP:0011865 HP:0011866 UMLS:C4025655 Pee issues Urine issues human_phenotype HP:0003110 Abnormality of urine homeostasis 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 The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. UMLS:C4025653 Abnormality of serum amino acid level Abnormality of serum amino acid levels human_phenotype HP:0003112 Abnormal circulating amino acid concentration An abnormally decreased calcium concentration in the urine. SNOMEDCT_US:86353007 UMLS:C0020599 Low urine calcium levels HP:0003127 Hypocalciuria Abnormally increased serum levels of alkaline phosphatase activity. HP:0002911 HP:0003636 HP:0008296 UMLS:C0750857 Elevated ALP Elevated alkaline phosphatase Greatly elevated alkaline phosphatase High serum alkaline phosphatase Hyperphosphatasemia Hyperphosphatasia Increased alkaline phosphatase Increased serum alkaline phosphatase HP:0003155 Elevated circulating alkaline phosphatase concentration A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. HP:0003569 HP:0003705 HP:0003742 HP:0003802 MSH:D009135 SNOMEDCT_US:129565002 UMLS:C0026848 Muscle tissue disease Myopathic changes human_phenotype HP:0003198 The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. Myopathy An increased concentration of tyrosine in the blood. SNOMEDCT_US:56595005 UMLS:C1879362 Increased tyrosine in blood Tyrosinemia human_phenotype HP:0003231 Defect in fumarylacetoacetase. Hypertyrosinemia Abnormal increased size of the viscera of the abdomen. SNOMEDCT_US:28543008 UMLS:C0042782 human_phenotype HP:0003271 Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas. Visceromegaly Abnormally reduced serum levels of alkaline phosphatase. UMLS:C1860130 Decreased serum alkaline phosphatase Low ALP HP:0003282 Low alkaline phosphatase Any anomaly in the composite material or the layered arrangement of the bony skeleton. UMLS:C4025630 human_phenotype HP:0003330 Abnormal bone structure An decreased level of renin in the blood. HP:0003263 UMLS:C1845206 Decreased plasma renin activity Low plasma renin activity Suppressed plasma renin activity human_phenotype HP:0003351 Decreased circulating renin level An increased concentration of an amino acid in the urine. HP:0002903 HP:0008335 HP:0200014 SNOMEDCT_US:35912001 UMLS:C0238621 UMLS:C4020843 High urine amino acid levels Hyperaminoaciduria Increased levels of animo acids in urine human_phenotype Abnormal urinary amino-acid findings HP:0003355 Aminoaciduria Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. SNOMEDCT_US:111007000 UMLS:C0544820 UMLS:C4025616 human_phenotype hypomyelination HP:0003429 CNS hypomyelination A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01. UMLS:C4025605 Reduced ration of kidney calcium clearance to creatinine clearance Reduced ration of renal Ca clearance to creatinine clearance Reduced ration of renal Ca2+ to creatinine clearance HP:0003513 Reduced ratio of renal calcium clearance to creatinine clearance Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). UMLS:C4025596 HP:0003549 Abnormality of connective tissue Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. HP:0003585 HP:0003598 HP:0003627 HP:0003662 HP:0003669 UMLS:C1853562 Onset in adulthood Onset in early adulthood Symptoms begin in adulthood human_phenotype HP:0003581 Adult onset Onset of signs or symptoms of disease between 28 days to one year of life. HP:0003576 HP:0003579 HP:0003591 HP:0003594 HP:0003599 HP:0003600 HP:0003629 HP:0003631 HP:0003667 HP:0003672 HP:0010573 UMLS:C1848924 Infantile onset Onset in first year of life Onset in infancy human_phenotype HP:0003593 Onset of signs or symptoms of disease within the first 12 months of life. Infantile onset Onset of signs or symptoms of disease between the age of 5 and 15 years. HP:0003578 HP:0003580 HP:0003582 HP:0003583 HP:0003589 HP:0003592 HP:0003604 HP:0003619 HP:0003620 HP:0003625 HP:0003659 HP:0003661 HP:0003670 UMLS:C4025588 Signs and symptoms begin before 15 years of age human_phenotype HP:0003621 Juvenile onset The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. HP:0003650 MSH:D005487 SNOMEDCT_US:16980002 UMLS:C0016390 Foamy histiocytes Foamy macrophages Lipid-laden histiocytes Presence of foam cells HP:0003651 Foam cells may contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy. Foam cells The age group in which disease manifestations appear. HP:0003588 HP:0003590 HP:0003597 HP:0003602 HP:0003603 HP:0003618 HP:0003626 HP:0003628 HP:0003630 HP:0003663 HP:0003664 HP:0003668 HP:0011007 MSH:D017668 UMLS:C0206132 Age of onset Age symptoms begin human_phenotype HP:0003674 Adolescent is defined by WHO as a person between 10-19 years of age. Onset A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. HP:0000101 HP:0004720 HP:0004725 HP:0004733 HP:0004738 HP:0005570 SNOMEDCT_US:433146000 UMLS:C2316810 Chronic renal failure End stage renal disease End stage renal failure End-stage renal disease End-stage renal failure Stage 5 chronic kidney disease Renal failure, endstage HP:0003774 Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease. Stage 5 chronic kidney disease UMLS:C0852413 Abnormal muscle tone human_phenotype HP:0003808 Abnormal muscle tone An abnormality of the biliary system. peter 2008-02-20T11:34:00Z UMLS:C0940767 human_phenotype HP:0004297 Abnormality of the biliary system A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). peter 2008-02-27T03:19:00Z HP:0001509 HP:0003501 HP:0003507 HP:0003512 HP:0003518 HP:0003519 HP:0008871 HP:0008882 HP:0008888 HP:0008913 SNOMEDCT_US:237836003 UMLS:C0349588 Decreased body height Height less than 3rd percentile Short stature Small stature Stature below 3rd percentile human_phenotype HP:0004322 Short stature 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 increased body weight. peter 2008-02-27T03:21:00Z HP:0045083 MSH:D015430 SNOMEDCT_US:161831008 SNOMEDCT_US:262286000 SNOMEDCT_US:8943002 UMLS:C0043094 Increased body weight human_phenotype Weight gain HP:0004324 Increased 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 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). peter 2008-02-27T04:23:00Z UMLS:C4025355 Abnormal anterior segment morphology Abnormality of the anterior segment of the eye Abnormality of the anterior segment of the eyeball Abnormality of the anterior segment of the globe human_phenotype HP:0004328 The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. Abnormal anterior eye segment 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 a aromatic amino acid in the blood circulation. peter 2008-03-08T07:55:00Z UMLS:C4025352 Abnormality of aromatic amino acid family metabolism human_phenotype HP:0004338 Abnormal circulating aromatic amino acid concentration peter 2008-03-08T08:08:00Z UMLS:C4021659 Abnormality of B-vitamin metabolism human_phenotype HP:0004340 Abnormality of vitamin B metabolism peter 2008-03-08T08:09:00Z UMLS:C4021658 Abnormality of the vitamin B12 metabolism human_phenotype HP:0004341 Abnormality of vitamin B12 metabolism This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. peter 2008-03-11T08:10:00Z UMLS:C4021657 Abnormality of bone mineralisation and ossification human_phenotype HP:0004348 Abnormality of bone mineral density Any deviation from the normal concentration of a carboxylic acid in the blood circulation. peter 2008-03-17T01:11:00Z UMLS:C4025344 human_phenotype HP:0004354 Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). Abnormal circulating carboxylic acid concentration An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. peter 2008-03-17T03:35:00Z MSH:D000137 UMLS:C0001118 human_phenotype Acid base imbalance HP:0004360 Abnormality of acid-base homeostasis Any deviation from the normal concentration of calcium in the blood circulation. peter 2008-03-17T04:15:00Z HP:0040077 Abnormal blood calcium concentration Abnormal blood calcium levels Abnormal circulating Ca concentration Abnormal circulating Ca2+ concentration human_phenotype HP:0004363 Abnormal circulating calcium concentration Any deviation from the normal concentration of a nitrogen compound in the blood circulation. peter 2008-03-17T04:51:00Z UMLS:C4025336 human_phenotype HP:0004364 Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine. Abnormal circulating nitrogen compound concentration An abnormality of alkaline phosphatase level. 2008-03-18T08:13:00Z UMLS:C4020829 UMLS:C4025328 Abnormality of ALP level Abnormality of alkaline phosphatase activity Alkaline phosphatase abnormal HP:0004379 Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease. Abnormality of alkaline phosphatase level A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. peter 2008-03-18T08:54:00Z Fyler:1430 MSH:D021921 SNOMEDCT_US:268185002 UMLS:C0003499 human_phenotype HP:0004381 Supravalvular aortic stenosis An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. HP:0004730 SNOMEDCT_US:49008000 UMLS:C0238210 Abnormal rotation of the kidneys Malrotation of the kidney HP:0004712 The final kidney position in the renal fossa results from the rotation of the kidney with an orientation of the renal pelvis to the medial and the renal calyces to the lateral. Malrotation of the kidney can lead to orientation of the renal pelvis anteriorly, posteriorly and laterally. In most cases, renal malrotation does not cause any symptoms, but, hydronephrosis or stone formation can be observed as complications of renal malformation. Renal malrotation Acute renal failure with resolution of manifestations. UMLS:C1843276 Reversible kidney failure Reversible renal failure HP:0004713 Reversible renal failure An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. UMLS:C4025300 HP:0004717 Axial malrotation of the kidney An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. UMLS:C3275899 Echogenic kidneys Increased echogenicity of the renal parenchyma HP:0004719 Normal renal parenchyma is similar (isoechoic) or slightly darker (hypoechoic) compared with liver and includes the cortex and medulla. The thickness of the renal cortex is measured from the outer border of the medullary pyramids (yellow line) or from the arcuate arteries to the renal capsule. The medullary pyramids (white arrow) contain fluid in parallel tubules, which is anechoic (black) and appear as regularly spaced dark pools at the inner margin of the parenchyma (arrow). Because fat is echogenic, the central renal sinus appears bright. Hyperechogenic kidneys Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. Thickening of the glomerular basement membrane SNOMEDCT_US:264932002 UMLS:C0445347 HP:0004722 This finding is demonstrated on renal biopsy. Thickened glomerular basement membrane The presence of calcium-containing calculi (stones) in the kidneys. UMLS:C1855801 Ca kidney stone Ca nephrolithiasis Ca2+ kidney stone Ca2+ nephrolithiasis Calcium kidney stone HP:0004724 The overwhelming majority of renal calculi contain calcium. Calcium nephrolithiasis A defect in the ability to concentrate the urine. HP:0005568 UMLS:C1859819 Urine concentrating defect Urine concentration defect HP:0004727 An impairment in renal concentrating ability can be easily recognized by the maximum concentrating ability (Umax) as determined by the urine osmolality reached after a fixed period of dehydration. Inability to maximally concentrate the urine is related to one or both of two basic tubular defects: 1) a failure of maximal free-water generation by the diluting segment in the ascending limb of Henle's loop; and 2) a failure of the distal tubular epithelium to achieve maximum permeability to water during water deprivation. Impaired renal concentrating ability Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. MSH:C564356 UMLS:C1843274 HP:0004729 Acute tubulointerstitial nephritis A reduction in the ability of the kidneys to remove uric acid from the serum. UMLS:C1969371 Uric acid fractional excretion decreased HP:0004732 Impaired renal uric acid clearance Cysts of microscopic size confined to the cortex of the kidney. HP:0000814 UMLS:C1865877 Cortical microcysts Multiple renal cortical microcysts Multiple small renal cortical cysts HP:0004734 Renal cortical microcysts A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. UMLS:C1835796 Crossed-fused renal ectopia Ectopic kidney with fusion HP:0004736 Crossed fused renal ectopia Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. UMLS:C1865276 HP:0004737 Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). Global glomerulosclerosis An abnormality of the renal collecting system. HP:0004731 UMLS:C1851303 Abnormal collecting system Abnormality of the renal collecting system Renal collecting system anomalies HP:0004742 Abnormal renal collecting system morphology Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. SNOMEDCT_US:60926001 UMLS:C0238304 HP:0004743 Chronic tubulointerstitial nephritis Electron dense deposits at the glomerular basement membrane, MSH:D015432 SNOMEDCT_US:59479006 UMLS:C0268743 Dense deposit disease Membranoproliferative glomerulonephritis type II HP:0004746 Subendothelial electron-dense deposits are a characteristc feature of dense-deposit disease. Glomerular subendothelial electron-dense deposits UMLS:C1858626 HCO3-wasting renal tubular acidosis Renal bicarbonate wasting HP:0004910 Bicarbonate-wasting renal tubular acidosis UMLS:C4025275 Generalised distal tubular acidosis HP:0004916 Generalized distal tubular acidosis 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 An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. Atrial fibrillation Abnormal increased size of the posterior cranial fossa. UMLS:C1855889 Widened posterior fossa human_phenotype HP:0005445 Enlarged posterior fossa An anomaly of the form or number of cells in the bone marrow. peter 2008-03-27T10:46:00Z MSH:D001855 SNOMEDCT_US:127035006 UMLS:C0005956 UMLS:C4021634 Anomaly of the bone marrow cells human_phenotype Bone marrow disease HP:0005561 Abnormality of bone marrow cell morphology The presence of many cysts in the kidney. SNOMEDCT_US:253883006 UMLS:C0431718 Multiple kidney cysts HP:0005562 Multiple renal cysts A reduction in the count of nephrons per kidney. UMLS:C1841994 UMLS:C2673888 Oligonephronia Decreased numbers of glomeruli HP:0005563 Decreased numbers of nephrons A lack of differentiation between renal cortex and medulla on diagnostic imaging. HP:0005581 UMLS:C1849765 Absent renal corticomedullary differentiation Loss of corticomedullary differentiation HP:0005564 Absence of renal corticomedullary differentiation Reduced differentiation between renal cortex and medulla on diagnostic imaging. HP:0005573 UMLS:C3807131 Loss of definition of corticomedullary differentiation HP:0005565 Reduced renal corticomedullary differentiation UMLS:C1968910 Increased percent tubular reabsorption of phosphorus HP:0005571 Increased renal tubular phosphate reabsorption UMLS:C1968899 HP:0005572 Decreased renal tubular phosphate excretion A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. UMLS:C4025176 HP:0005574 Non-acidotic proximal tubulopathy A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. MSH:D006463 SNOMEDCT_US:111407006 UMLS:C0019061 Hemolytic uremic syndrome HP:0005575 Hemolytic-uremic syndrome A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. HP:0000129 HP:0004714 HP:0008171 UMLS:C1969372 Tubulointerstitial renal fibrosis Tubulointerstitial scarring HP:0005576 This finding is usually shown by renal biopsy. Fibrosis involves an excess accumulation of extracellular matrix and usually results in loss of function when normal tissue is replaced with scar tissue. Tubulointerstitial renal fibrosis, characterized as a progressive detrimental connective tissue deposition on the kidney parenchyma, appears to be a harmful process leading inevitably to renal function deterioration, independently of the primary renal disease which causes the original kidney injury. Epithelial to Mesenchymal Transition (EMT) of tubular epithelial cells which are transformed to mesenchymal fibroblasts migrating to adjacent interstitial parenchyma constitutes the principal mechanism of renal fibrosis along with local and circulating cells. (PMID:20011086) Tubulointerstitial fibrosis Any impairment of reabsorption of chloride by the kidney. UMLS:C1846349 Impaired reabsorption of Cl Impaired reabsorption of Cl- HP:0005579 Impaired renal tubular reabsorption of chloride A duplication of the renal pelvis. UMLS:C1839269 HP:0005580 Duplication of renal pelvis DIsruption and breaking up of the basement membrane of the tubules of the kidney. HP:0005577 UMLS:C1968618 Disintegration of the tubular basement membrane HP:0005583 Throughout the rest of the nephron, tubule epithelial cells are attached to the tubular basement membrane that overlies the subjacent interstitial connective tissue. The disruption of cell-basement membrane adhesion results in loss of cell orientation, abnormal cell function, and can lead to tissue destruction. Tubular basement membrane disintegration A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. HP:0006720 MSH:D002292 NCIT:C2916 SNOMEDCT_US:41607009 SNOMEDCT_US:702391001 UMLS:C0007134 Cancer starting in small tubes in kidneys Hypernephroma Renal carcinoma HP:0005584 Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma. Renal cell carcinoma An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. 2008-03-27T03:21:00Z UMLS:C4025102 HP:0005932 On T1-weighted magnetic resonance imaging, the signal intensity of the normal renal cortex is typically higher than medulla, resulting in easily visualized corticomedullary differentiation (CMD). Loss of CMD can be seen in disorders such as glomerulonephritis, acute tubular necrosis, end-stage chronic renal failure, obstructive hydronephrosis, and acute allograft rejection. Progressive corticomedullary differentiation (CMD) can be visualized as an echogenic cortex and a hypoechoic medulla. This CMD should be visible during the midtrimester sonographic evaluation. Abnormal renal corticomedullary differentiation Obstruction of the flow of urine through the ureter. Fyler:4492 MSH:D014517 SNOMEDCT_US:20018005 UMLS:C0041956 human_phenotype HP:0006000 Ureteral obstruction An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. peter 2008-03-28T04:41:00Z HP:0100567 UMLS:C4025043 human_phenotype HP:0006476 Abnormality of the pancreatic islet cells A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. UMLS:C1336840 HP:0006732 Papillary renal cell carcinoma type 2 is a common feature of hereditary leiomyomatosis and renal cell cancer; HLRCC (OMIM 150800). Papillary renal cell carcinoma type 2 The presence of an adenoma in the cortex of the kidney. NCIT:C2855 SNOMEDCT_US:254919009 UMLS:C0346253 Kidney cortical adenoma HP:0006735 Renal cortical adenoma The presence of a carcinoma in the renal pelvis. NCIT:C2916 UMLS:C4024983 HP:0006762 Renal pelvic carcinoma The presence of renal cell carcinoma in the renal papilla. HP:0006776 MSH:D002292 NCIT:C2916 UMLS:C1306837 HP:0006766 Papillary renal cell carcinoma A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. MSH:D002292 SNOMEDCT_US:188251003 SNOMEDCT_US:254915003 SNOMEDCT_US:41607009 UMLS:C0279702 Nonpapillary renal cell carcinoma HP:0006770 Clear cell renal cell carcinoma A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. HP:0100873 NCIT:C3734 SNOMEDCT_US:254921004 UMLS:C0241961 Angiomyolipoma Kidney angiomyolipoma HP:0006772 Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements. Renal angiomyolipoma Absence or underdevelopment of the vermis of cerebellum. HP:0005690 HP:0007080 UMLS:C1855676 UMLS:C3280770 Cerebellar vermis aplasia/hypoplasia Hypo/aplastic vermis human_phenotype Cerebellar vermis aplasia or hypoplasia HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis Aggressive/violent behavior UMLS:C4024963 Abnormal aggressive, impulsive or violent behaviour human_phenotype HP:0006919 Abnormal aggressive, impulsive or violent behavior HP:0006874 SNOMEDCT_US:418143002 SNOMEDCT_US:52522001 UMLS:C0154671 Neuroaxonal degeneration in the brain human_phenotype HP:0007313 Cerebral degeneration peter 2008-03-31T05:43:00Z UMLS:C4024902 Absent/small cerebrum Absent/underdeveloped cerebrum human_phenotype HP:0007364 Aplasia/Hypoplasia of the cerebrum peter 2008-04-01T10:23:00Z UMLS:C4024899 Atrophy/Degeneration affecting the CNS human_phenotype HP:0007367 Atrophy/Degeneration affecting the central nervous system The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. peter 2008-04-01T10:28:00Z UMLS:C4024898 human_phenotype HP:0007369 Atrophy/Degeneration affecting the cerebrum A tumor (abnormal growth of tissue) of the genitourinary system. 2008-04-01T12:00:00Z MSH:D014565 NCIT:C3262 UMLS:C0042065 UMLS:C4020809 Genitourinary tract neoplasm Genitourinary tract tumors Genitourinary tract tumours Neoplasm of the GU tract Genitourinary tract neoplasia HP:0007379 Neoplasm of the genitourinary tract HP:0001091 HP:0007693 HP:0007739 HP:0007969 HP:0008008 SNOMEDCT_US:13164000 UMLS:C0234632 Decreased central vision Decreased clarity of vision Decreased visual acuity Poor visual acuity human_phenotype HP:0007663 Reduced visual acuity Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. HP:0007696 HP:0007699 HP:0008040 SNOMEDCT_US:65075004 UMLS:C0266525 Anterior chamber cleavage defect Anterior chamber cleavage disorder Anterior chamber malformation Anterior chamber mesodermal anomalies Anterior segment developmental abnormality Anterior segment dysgenesis Anterior segment mesencyhmal dysgenesis Anterior segment ocular dysgenesis human_phenotype HP:0007700 In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures. Ocular anterior segment dysgenesis Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. HP:0007638 HP:0007798 HP:0007914 HP:0007919 HP:0007999 UMLS:C0730292 human_phenotype HP:0007754 Macular dystrophy Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. HP:0000655 UMLS:C1850109 Vitreoretinal abnormality Vitreoretinal degeneration human_phenotype HP:0007773 Vitreoretinopathy Absence or underdevelopment of the iris. peter 2008-04-02T01:50:00Z UMLS:C4024748 Absent/small iris Absent/underdeveloped iris human_phenotype HP:0008053 Aplasia/Hypoplasia of the iris Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. peter 2008-04-02T03:24:00Z UMLS:C4024746 Absent/underdeveloped uvea human_phenotype HP:0008055 Aplasia/Hypoplasia affecting the uvea peter 2008-04-02T03:25:00Z UMLS:C4024745 Absent/small eye Absent/underdeveloped eye human_phenotype HP:0008056 Aplasia/Hypoplasia affecting the eye Absence or underdevelopment of the anterior segment of the eye. peter 2008-04-02T03:33:00Z UMLS:C4024739 human_phenotype HP:0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. peter 2008-04-02T03:54:00Z HP:0007467 HP:0007496 HP:0200038 UMLS:C0241054 UMLS:C2132198 UMLS:C2220104 Abnormal blistering of the skin Blister Blistering, generalized Blisters Skin bullae human_phenotype Skin blisters HP:0008066 A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. Abnormal blistering of the skin UMLS:C4024714 HP:0008272 Renal tubular lysine transport defect The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. SNOMEDCT_US:236444003 UMLS:C0403474 HP:0008327 The qualifier microscopic is used to indicate that the nephrocalcinosis cannot be observed on visual or radiologic examination without further magnification (as can macroscopic nephrocalcinosis). Microscopic nephrocalcinosis A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. MSH:D000141 SNOMEDCT_US:236461000 SNOMEDCT_US:86210009 UMLS:C1704380 Renal tubular acidosis, type I HP:0008341 Distal renal tubular acidosis peter 2008-04-04T12:35:00Z HP:0000827 UMLS:C4024685 Puberty and gonadal disorders human_phenotype HP:0008373 Puberty and gonadal disorders SNOMEDCT_US:95339000 UMLS:C0423848 UMLS:C3550336 Extra rows of eyelashes Multiple rows of eyelashes Double row of eyelashes Two rows of eyelashes human_phenotype HP:0008496 Multiple rows of eyelashes Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. UMLS:C2675558 HP:0008643 Nephroblastomatosis UMLS:C4024647 HP:0008651 Uric acid urolithiasis independent of gout A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. SNOMEDCT_US:236398000 UMLS:C0403416 HP:0008653 Crescentic glomerulonephritis The presence of many cysts in the medulla of the kidney. HP:0005569 HP:0100956 SNOMEDCT_US:204958008 UMLS:C0687120 UMLS:C4020790 UMLS:C4024644 Medullary cystic disease Medullary sponge kidney disease HP:0008659 This feature is the cardinal sign of medullary cystic disease, also known as medullary sponge disease. Multiple small medullary renal cysts A developmental defect characterized by absence or poor development of proximal renal tubules. MSH:C537048 SNOMEDCT_US:702397002 UMLS:C0266313 Renal tubular dysgenesis HP:0008660 Renotubular dysgenesis is generally accompanied by early onset and persistent oligohydramnios that leads to the Potter sequence. Renotubular dysgenesis A sarcoma of the kidney. NCIT:C3158 SNOMEDCT_US:254918001 UMLS:C0346251 HP:0008663 Renal sarcoma UMLS:C4024642 HP:0008666 Impaired histidine renal tubular absorption Incomplete maturation or aberrant formation of the male gametes. SNOMEDCT_US:4529005 UMLS:C0520933 UMLS:C4020789 Impaired spermatogenesis human_phenotype Abnormal sperm development HP:0008669 Abnormal spermatogenesis The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. HP:0008700 HP:0008725 MSH:C563477 SNOMEDCT_US:444717006 UMLS:C1833683 UMLS:C4280806 Ca oxalate kidney stone Ca oxalate nephrolithiasis Ca oxalate urolithiasis Ca2+ oxalate kidney stone Ca2+ oxalate nephrolithiasis Ca2+ oxalate urolithiasis Calcium oxalate kidney stones Oxalate nephrolithiasis Calcium oxalate urolithiasis HP:0008672 Calcium oxalate nephrolithiasis Nephrotic syndrome with onset within the first three months of life. MSH:C535761 SNOMEDCT_US:48796009 UMLS:C3501848 Congenital nephrosis HP:0008677 Congenital nephrotic syndrome Absence or underdevelopment of the kidney. HP:0004744 HP:0008701 UMLS:C1857453 Absent/small kidney Absent/underdeveloped kidney Renal agenesis/hypoplasia Renal aplasia/hypoplasia HP:0008678 Renal hypoplasia/aplasia Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). MSH:D007683 SNOMEDCT_US:35455006 UMLS:C0022672 Acute tubular necrosis Renal tubular necrosis HP:0008682 Renal tubular epithelial necrosis is a histomorphological definition that corresponds to the clinical term of acture tubular necrosis. Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases. Renal tubular epithelial necrosis UMLS:C4024638 Transient nephrosis HP:0008695 Transient nephrotic syndrome A disordered proliferation of mature tissues that are native to the kidneys. UMLS:C1840396 HP:0008696 Renal hamartoma A unilateral form of atrophy of the kidney. SNOMEDCT_US:424998002 UMLS:C1827184 Kidney degeneration on one side Unilateral kidney wasting HP:0008717 Unilateral renal atrophy A unilateral form of developmental dysplasia of the kidney. SNOMEDCT_US:204951002 UMLS:C0431697 HP:0008718 Unilateral renal dysplasia The presence of a partially duplicated kidney. UMLS:C4024630 Partially duplicated kidney HP:0008738 Partially duplicated kidney Any structural abnormality of the renal artery. peter 2008-04-04T06:13:00Z UMLS:C4024624 Abnormal kidney artery Abnormality of the renal artery human_phenotype HP:0008776 Abnormal renal artery morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. peter 2008-04-05T11:16:00Z UMLS:C4020785 UMLS:C4024586 human_phenotype Abnormality of the axial skeleton HP:0009121 Abnormal axial skeleton morphology The presence of a neoplasm of the kidney. 2009-01-31T10:41:48Z HP:0005933 Kidney cancer MSH:D007680 NCIT:C3262 SNOMEDCT_US:126880001 UMLS:C0022665 UMLS:C1378703 Neoplasia of the kidneys Renal tumors Renal tumours Renal neoplasia HP:0009726 Renal neoplasm Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. 2009-01-31T01:15:08Z MSH:D009400 SNOMEDCT_US:32916005 UMLS:C0027719 Scarring of kidney arteries Thickening of kidney artiries HP:0009741 Nephrosclerosis Double rows of eyelashes. peter 2009-01-31T02:07:50Z SNOMEDCT_US:95339000 UMLS:C0423848 Distichiasis of eyelid eyelashes human_phenotype HP:0009743 Distichiasis can be defined as the abnormal growth of lashes from the orifices of the Meibomian glands on the posterior lamella of the tarsal plate, resulting in a double row of eyelashes. Distichiasis Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. Stridor A congenital anomaly characterized by the presence of supernumerary fingers or toes. doelkens 2009-07-29T01:39:27Z HP:0006034 HP:0006046 HP:0006123 HP:0009605 Fyler:4103 MSH:D017689 SNOMEDCT_US:367506006 UMLS:C0152427 More than five fingers or toes on hands or feet human_phenotype HP:0010442 Polydactyly Abnormality of the male genital system. peter 2009-09-15T08:33:20Z UMLS:C4023819 Abnormal male genitals Abnormality of the male genitalia human_phenotype HP:0010461 Abnormality of the male genitalia 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 Severe or complete weakness of both lower extremities with sparing of the upper extremities. peter 2009-10-01T08:32:57Z MSH:D010264 SNOMEDCT_US:60389000 UMLS:C0030486 Leg paralysis human_phenotype HP:0010550 Paraplegia Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. peter 2009-10-01T08:36:05Z UMLS:C4023792 human_phenotype HP:0010551 Paraplegia/paraparesis A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. sandra1 2009-10-16T02:51:16Z MSH:D006222 SNOMEDCT_US:400006008 SNOMEDCT_US:51398009 UMLS:C0018552 HP:0010566 Hamartoma A cystic lesion originating within the brain. sandra1 2009-10-22T01:38:49Z UMLS:C4021250 Cerebral cystic malformation human_phenotype HP:0010576 Intracranial cystic lesion An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. 2010-03-05T11:08:35Z UMLS:C4021240 Elevated alkaline phosphatase, liver/bone/kidney Elevated tissue non-specific ALP HP:0010679 Tissue non-specific alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 249, Uniprot P05186 (PPBT_HUMAN). The gene is also known as alkaline phosphatase, liver/bone/kidney (ALPL). Elevated tissue non-specific alkaline phosphatase An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. 2010-03-05T11:09:59Z UMLS:C4023745 Elevated ALP of renal origin HP:0010680 Elevated alkaline phosphatase of renal origin An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. 2010-03-05T11:12:47Z UMLS:C4023740 Low ALP of renal origin HP:0010685 Low alkaline phosphatase of renal origin An abnormal accumulation of fluid beneath the skin of the legs. Edema of the lower limbs The presence of a neoplasm of the urinary system. 2010-05-04T09:45:25Z MSH:D014571 NCIT:C3262 SNOMEDCT_US:126879004 SNOMEDCT_US:254913005 UMLS:C0042076 Urinary tract neoplasia HP:0010786 Urinary tract neoplasm 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 Any deviation from the normal concentration of tyrosine in the blood circulation. peter 2010-12-08T09:13:53Z UMLS:C4023653 human_phenotype HP:0010917 Abnormal circulating tyrosine concentration An abnormality of divalent inorganic cation homeostasis. peter 2011-01-06T07:47:18Z UMLS:C4023648 Abnormality of divalent inorganic cation homeostasis human_phenotype HP:0010927 Abnormal blood inorganic cation concentration An abnormality of cation homeostasis. peter 2011-01-06T10:36:04Z UMLS:C4023646 Abnormality of cation homeostasis human_phenotype HP:0010929 Abnormal blood cation concentration An abnormality of a nucleobase metabolic process. peter 2011-01-06T10:46:17Z UMLS:C4020762 UMLS:C4023643 human_phenotype Abnormal nucleoside levels HP:0010932 This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. Abnormal circulating nucleobase concentration An abnormality of the upper urinary tract. peter 2011-01-16T11:37:29Z UMLS:C4023641 Abnormality of the upper urinary tract human_phenotype HP:0010935 The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters. Abnormality of the upper urinary tract An abnormality of the lower urinary tract. peter 2011-01-16T11:39:17Z UMLS:C4023640 human_phenotype HP:0010936 The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra. Abnormality of the lower urinary tract An abnormality of the renal pelvis. 2011-01-16T03:33:55Z UMLS:C4023633 Abnormality of the renal pelvis HP:0010944 Abnormal renal pelvis morphology Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. 2011-01-16T03:36:31Z MSH:D058536 SNOMEDCT_US:430035004 UMLS:C2317073 Fetal renal pelvic dilatation Foetal pyelectasis Foetal renal pelvic dilatation Mild fetal hydronephrosis Mild foetal hydronephrosis HP:0010945 The renal pelvis is the part of the kidney that collects urine. Fetal pyelectasis is a prenatal ultrasound finding that is diagnosed with enlargement of the renal pelvis from 4 to 10 millimeters. In many cases, fetal pyelectasis resolves spontaneously. Note that dilatation of the renal pelvis to more than 10 mm is referred to as severe pyelectasis or hydronephrosis. Measurements less than 5mm are normal, should not be designated as pyelectasis, and should not be reported (PMID:16100637). Fetal pyelectasis The presence of dilatation of the renal pelvis. 2011-01-16T03:39:20Z UMLS:C1868864 HP:0010946 Dilatation of the renal pelvis An abnormality of the fourth ventricle. peter 2011-01-17T12:58:00Z UMLS:C4023630 human_phenotype HP:0010950 The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata. Abnormality of the fourth ventricle A bilateral form of agenesis of the kidney. 2011-01-18T11:42:58Z MSH:C536482 SNOMEDCT_US:41962002 UMLS:C1609433 HP:0010958 Bilateral renal agenesis A functional abnormality of the immune system. peter 2011-02-07T04:28:55Z UMLS:C4023616 human_phenotype HP:0010978 Abnormality of immune system physiology A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. peter 2011-02-08T10:16:28Z UMLS:C4023613 human_phenotype HP:0010985 Gonosomal inheritance An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. sdoelken 2011-02-13T11:57:32Z HP:0002796 HP:0004350 HP:0005711 HP:0005741 HP:0010738 MSH:D010026 SNOMEDCT_US:49347007 UMLS:C0029464 Increased bone density Increased bone mineral density Osteosclerosis Osteosclerosis of bones human_phenotype HP:0011001 This term may be merged with Increased bone density in the future or made obsolete. Increased bone mineral density An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. peter 2011-02-16T08:46:49Z HP:0002620 HP:0005114 Fyler:2600 SNOMEDCT_US:234119001 UMLS:C0151489 UMLS:C4021205 Abnormal systemic artery morphology Abnormality of the systemic arterial tree Systemic artery abnormality human_phenotype Arterial abnormalities HP:0011004 Abnormal systemic arterial morphology The speed at which disease manifestations appear and develop. peter 2011-02-20T10:22:32Z UMLS:C4021204 Speed of onset human_phenotype HP:0011008 Temporal pattern Abnormality of glucose homeostasis. peter 2011-02-21T10:37:21Z UMLS:C4023598 human_phenotype HP:0011014 An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell. Abnormal glucose homeostasis An abnormality of the concentration of glucose in the blood. peter 2011-02-21T10:41:13Z UMLS:C4023597 Abnormality of blood glucose concentration human_phenotype HP:0011015 Abnormal blood glucose concentration An abnormality of the concentration of glucose in the urine. peter 2011-02-21T11:09:32Z UMLS:C4023596 human_phenotype HP:0011016 Abnormality of urine glucose concentration An abnormality of the gastrointestinal tract. peter 2011-03-01T07:52:06Z MSH:D004066 MSH:D005767 SNOMEDCT_US:119292006 SNOMEDCT_US:25374005 SNOMEDCT_US:53619000 UMLS:C0012242 UMLS:C0017178 UMLS:C4023588 Abnormality of the GI tract Abnormality of the gastrointestinal tract human_phenotype Digestive system disease Gastrointestinal disease HP:0011024 Abnormality of the gastrointestinal tract Abnormal functionality of the cardiovascular system. peter 2011-03-03T10:23:19Z UMLS:C4023587 Abnormality of cardiovascular system physiology human_phenotype HP:0011025 Abnormal cardiovascular system physiology Abnormality of cardiovascular system physiology An abnormality of blood circulation. peter 2011-03-03T10:25:21Z UMLS:C4020760 UMLS:C4023585 human_phenotype Blood circulation disorder HP:0011028 Abnormality of blood circulation The presence of hemorrhage within the body. peter 2011-03-03T10:26:26Z UMLS:C1390214 Internal bleeding Internal haemorrhage human_phenotype HP:0011029 Internal hemorrhage An abnormality of the regulation of body fluids. peter 2011-03-05T09:09:27Z SNOMEDCT_US:1860003 SNOMEDCT_US:190902006 UMLS:C2364164 Abnormality of fluid regulation Fluid imbalance human_phenotype HP:0011032 Abnormality of fluid regulation The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. 2011-03-06T10:56:39Z MSH:D000686 SNOMEDCT_US:17602002 UMLS:C0002726 Amyloid disease HP:0011034 The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarisation microscopy. Amyloidosis An abnormality of the cortex of the kidney. peter 2011-03-06T11:31:39Z UMLS:C4023580 Abnormality of renal cortex morphology human_phenotype HP:0011035 Abnormal renal cortex morphology An altered ability of the kidneys to void urine and/or specific substances. 2011-03-06T12:28:55Z MP:0005555 UMLS:C4023579 HP:0011036 Abnormality of renal excretion A decreased rate of urine production. 2011-03-06T12:33:12Z UMLS:C3887784 HP:0011037 A reduction in the overall amount of urine output. Decreased urine output An abnormality of renal absorption. 2011-03-06T12:38:04Z UMLS:C4023578 Abnormal renal resorption Abnormality of renal resorption HP:0011038 Abnormal renal tubular resorption Any morphological abnormality of the skin. peter 2011-06-12T10:03:23Z Fyler:4133 UMLS:C4023528 Abnormal skin morphology Abnormal skin structure human_phenotype HP:0011121 Abnormality of skin morphology A significant descent of the kidney as the patient moves from the supine to the erect position. 2011-06-16T07:34:25Z UMLS:C1384594 Floating kidney Renal ptosis HP:0011126 Nephroptosis is diagnosed if the descent of the kidney is greater than 5 cm or two vertebral bodies on intravenous urogram. The kidney is capable of moving back to the normal position, which differentiates it from an ectopic kidney, which constantly remains in an abnormal position. Nephroptosis may be asymptomatic or may cause symptoms including pain and intermittent ureteric obstruction with hydronephrosis, and ischemia due to elongation, narrowing, or kinking of a renal artery. Nephroptosis A bilateral form of fetal pyelectasis. 2011-06-19T10:00:34Z UMLS:C4023523 Bilateral fetal pyelectasia Bilateral foetal pyelectasia Bilateral foetal pyelectasis HP:0011129 Bilateral fetal pyelectasis Any abnormality of the morphology of the major calices or minor calices of the kidney. 2011-06-19T10:06:45Z UMLS:C4023522 Abnormality of renal calyx morphology HP:0011130 Abnormal renal calyx morphology An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. peter 2011-06-19T06:25:34Z UMLS:C4023518 Abnormal skin appendage human_phenotype HP:0011138 Abnormality of skin adnexa morphology peter 2011-12-30T02:51:16Z UMLS:C4023437 human_phenotype HP:0011277 Abnormality of the urinary system physiology An abnormality of calcium concentration in the urine. peter 2011-12-30T03:27:02Z UMLS:C4023434 Abnormality of urine Ca concentration Abnormality of urine Ca2+ concentration human_phenotype HP:0011280 Abnormality of urine calcium concentration An abnormality of the hindbrain, also known as the rhombencephalon. peter 2012-01-01T01:22:36Z UMLS:C4021170 Abnormal shape of hindbrain Abnormality of the hindbrain human_phenotype HP:0011282 The hindbrain consists of two main structures: The pons and the cerebellum. Abnormality of hindbrain morphology An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. peter 2012-01-01T01:24:14Z UMLS:C4023432 human_phenotype HP:0011283 Abnormality of the metencephalon A morphological abnormality of a digit, i.e., of a finger or toe. peter 2012-02-11T07:16:22Z UMLS:C3550704 Abnormality of digit Abnormality of fingers or toes Digital anomalies human_phenotype HP:0011297 Abnormal digit morphology An abnormality of the skin that is not localized to any one particular region. peter 2012-03-01T01:55:07Z UMLS:C4021157 Generalised abnormality of skin Generalized abnormality of skin human_phenotype HP:0011354 Generalized abnormality of skin An abnormality of the function of the inner ear. hecht 2012-03-09T04:58:30Z UMLS:C4023382 Functional abnormality of the inner ear human_phenotype HP:0011389 The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium. Functional abnormality of the inner ear An abnormality of myelination of nerves in the central nervous system. peter 2012-03-12T07:24:42Z HP:0002520 HP:0004335 UMLS:C4021152 Abnormal formation of myelin sheaths human_phenotype HP:0011400 In the CNS, myelin is the product of oligodendrocytes (and not of Schwann cells, as in the PNS). This term refers to an abnormality of the process in which myelin sheaths are formed and maintained around neurons or the result of such an abnormality. Abnormal CNS myelination An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. 2012-03-17T04:26:01Z UMLS:C4023366 Foetal ultrasound soft marker HP:0011425 The screening ultrasound at 16 to 20 weeks should evaluate 8 markers, 5 of which (thickened nuchal fold, echogenic bowel, mild ventriculomegaly, echogenic focus in the heart, and choroid plexus cyst) are associated with an increased risk of fetal aneuploidy, and in some cases with nonchromosomal problems, while 3 (single umbilical artery, enlarged cisterna magna, and pyelectasis) are only associated with an increased risk of nonchromosomal abnormalities when seen in isolation (PMID:16100637). Fetal ultrasound soft marker An anomaly of the control or production of movement in the central nervous system. peter 2012-03-18T02:29:04Z UMLS:C4023354 Abnormality of central motor function human_phenotype HP:0011442 Abnormal central motor function peter 2012-03-18T02:40:46Z UMLS:C4023353 Abnormality of coordination Coordination issue human_phenotype HP:0011443 Abnormality of coordination Cognitive, psychiatric or memory anomaly. peter 2012-03-18T04:23:59Z UMLS:C4023352 human_phenotype HP:0011446 Abnormality of higher mental function peter 2012-03-25T05:35:45Z UMLS:C0740651 human_phenotype HP:0011458 Abdominal symptom Onset of disease at the age of between 1 and 5 years. peter 2012-03-25T07:16:20Z HP:0003586 HP:0003617 UMLS:C1837352 Symptoms begin in childhood human_phenotype HP:0011463 This term refers to ages up to but not including the fifth birthday (see Juvenile onset). Childhood onset A deviance in the normal connections between two cardiac segements. peter 2012-04-07T11:24:25Z UMLS:C4023306 Abnormal connexion of the cardiac segments Discordant connection of the cardiac segments human_phenotype HP:0011545 Abnormal connection of the cardiac segments An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. peter 2012-04-08T07:32:38Z UMLS:C4023296 Abnormal ventriculo-arterial connection Abnormal ventriculoarterial connexion human_phenotype HP:0011563 The cardiac malformations with abnormal ventriculo-arterial connections in situs solitus and atrio-ventricular concordance include the tetralogy of Fallot as well as different forms of double-outlet right ventricle and transposition of the great arteries. Abnormal ventriculoarterial connection Defect or defects of the morphogenesis of the aorta and pulmonary arteries. peter 2012-04-08T02:51:09Z UMLS:C0478012 human_phenotype HP:0011603 Congenital malformation of the great arteries A functional abnormality of the adrenal glands. peter 2012-04-21T08:05:42Z HP:0002855 UMLS:C4023212 human_phenotype HP:0011733 Abnormality of adrenal physiology A functional abnormality of the parathyroid gland. peter 2012-04-22T04:09:13Z Parathyroid issue UMLS:C4023198 Parathyroid dysfunction human_phenotype HP:0011767 Abnormality of the parathyroid physiology Neoplasm categorized according to type of histological abnormality. 2012-04-22T06:57:50Z UMLS:C4023186 HP:0011792 Neoplasm by histology Neoplasm categorized according to the anatomical site of origin of the neoplasm. 2012-04-22T07:00:13Z UMLS:C4023185 HP:0011793 Neoplasm by anatomical site The presence of an embryonal neoplasm of the kidney that primarily affects children. 2012-04-22T07:44:34Z UMLS:C4023184 HP:0011794 Embryonal renal neoplasm Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). 2012-04-22T07:50:10Z SNOMEDCT_US:405934001 UMLS:C1319016 HP:0011795 Intralobar nephroblastomatosis Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). 2012-04-22T07:50:25Z SNOMEDCT_US:405935000 UMLS:C1319017 HP:0011796 Perilobar nephroblastomatosis A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. 2012-04-22T08:03:34Z UMLS:C1336839 HP:0011797 Papillary renal cell carcinoma type 1 A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. 2012-04-22T08:13:36Z MSH:C537750 SNOMEDCT_US:254922006 UMLS:C0346255 HP:0011798 Renal oncocytoma is seen in Birt-Hogg-Dube syndrome (OMIM 135150). Renal oncocytoma A functional abnormality of a skeletal muscle. peter 2012-04-25T02:00:15Z UMLS:C4023182 Abnormality of muscle physiology Issue with muscle function human_phenotype HP:0011804 Abnormal muscle physiology A structural abnormality of a skeletal muscle. peter 2012-04-25T02:00:34Z HP:0003735 UMLS:C4023181 Abnormal muscle morphology Abnormality of muscle morphology Abnormally shaped muscle Issue with muscle structure human_phenotype HP:0011805 Abnormal skeletal muscle morphology An abnormality of the form, structure, or size of the skeletal system. peter 2012-05-07T08:08:37Z UMLS:C4023165 Abnormally shaped skeletal human_phenotype HP:0011842 Abnormality of skeletal morphology An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. peter 2012-05-07T08:12:26Z UMLS:C4023163 human_phenotype HP:0011844 Abnormal appendicular skeleton morphology Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. peter 2012-05-15T07:39:58Z MP:0008271 UMLS:C4023161 UMLS:C4280317 human_phenotype Abnormal bone maturation HP:0011849 All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification. Abnormal bone ossification One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. peter 2012-06-10T09:18:42Z UMLS:C1860176 UMLS:C4023124 Short digit human_phenotype Very short digits HP:0011927 Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156. Short digit An infection of the upper or lower respiratory tract. Respiratory tract infection Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. peter 2012-07-16T12:25:35Z UMLS:C4023106 human_phenotype HP:0011962 Obstructive azoospermia An anomaly of the function of the pancreas. peter 2012-08-20T09:17:10Z UMLS:C4023048 human_phenotype HP:0012091 Abnormality of pancreas physiology A function abnormality of the endocrine pancreas. peter 2012-08-20T09:18:18Z UMLS:C4023047 human_phenotype HP:0012093 Abnormality of endocrine pancreas physiology Deviation from normal concentration of albumin in the blood. hecht 2012-09-16T05:14:53Z UMLS:C4023036 Abnormal albumin level human_phenotype HP:0012116 Abnormal albumin level peter 2012-09-16T08:21:57Z UMLS:C4023024 human_phenotype HP:0012145 Abnormality of multiple cell lineages in the bone marrow Any structural anomaly of the kidney. peter 2013-03-14T07:41:11Z HP:0000792 HP:0004726 HP:0004735 HP:0008712 Fyler:4512 SNOMEDCT_US:44513007 UMLS:C0266292 Abnormal kidney morphology Abnormally shaped kidney Kidney malformation Kidney structure issue Renal malformation Structural anomalies of the renal tract Structural kidney abnormalities Structural renal anomalies human_phenotype HP:0012210 Abnormal renal morphology An abnormal functionality of the kidney. peter 2013-03-14T07:43:34Z HP:0000082 HP:0000087 HP:0005566 HP:0008646 SNOMEDCT_US:39539005 UMLS:C0151746 Abnormal kidney function Abnormal renal function Abnormality of renal physiology Kidney function issue Renal functional abnormality human_phenotype HP:0012211 Abnormal renal physiology An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. 2013-03-14T07:49:53Z UMLS:C0854050 Abnormal GFR HP:0012212 Glomerular filtration, the first step in urine formation, is the passive process of ultrafiltration of plasma from blood into Bowman's space as it traverses the glomerular capillaries. Because GFR varies by body size, it is indexed relative to an average body surface area (BSA) of 1.73 m2 and expressed as ml/min/per 1.73 m2. GFR cannot be measured directly; it can be assessed from clearance measurements or estimated from serum levels of endogenous filtration markers, such as creatinine or cystatin C. Clearance measurements require either multiple measurements of serum concentrations or timed urine collections and are not routinely performed. GFR is usually estimated from serum concentrations of a marker of filtration using GFR estimating equations. Abnormal glomerular filtration rate An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. 2013-03-14T07:54:30Z HP:0000120 UMLS:C0853068 Decreased GFR Impaired renal creatinine clearance Reduced creatinine clearance HP:0012213 Renal clearance is defined as the volume of plasma per minute needed to excrete the quantity of a solute appearing in the urine in a minute. Normal values for adults are 97 to 137 ml/min (male) and 88 to 128 ml/min (female). This term refers to a reduction below normal limits in the ability of the kidney to clear creatinine from the bloodstream. Decreased glomerular filtration rate An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. 2013-03-14T07:55:03Z UMLS:C0856948 Increased GFR HP:0012214 Increased glomerular filtration rate A structural or developmental anomaly of any of the tissues involved in the genital system. peter 2013-04-02T07:02:20Z UMLS:C4021096 Abnormal genital system morphology human_phenotype HP:0012243 Abnormal reproductive system morphology An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. 2013-09-13T07:37:08Z MSH:D011704 SNOMEDCT_US:45816000 UMLS:C0034186 HP:0012330 Pyelonephritis may be unilateral or bilateral and is often characterized by abdominal pain, fever, nausea, and vomiting. Pyelonephritis An anomaly in the processes involved in the maintenance of an internal equilibrium. peter 2013-09-13T09:23:23Z MP:0001764 UMLS:C4022950 human_phenotype HP:0012337 Abnormal homeostasis A structural anomaly of the globe of the eye, or bulbus oculi. peter 2013-10-13T03:44:43Z HP:0000489 HP:0012374 Fyler:4863 UMLS:C4022925 Abnormal eye structure Abnormality of the globe Abnormally shaped eye human_phenotype HP:0012372 previously: Abnormal globe morphology Abnormal eye morphology A functional anomaly of the eye. peter 2013-10-13T03:45:37Z UMLS:C4022924 Abnormal eye physiology human_phenotype HP:0012373 Abnormal eye physiology Edema (swelling) of the bulbar conjunctiva. Chemosis Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. 2013-10-15T08:58:55Z UMLS:C4022922 HP:0012379 Abnormal circulating enzyme concentration or activity The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). 2013-11-10T10:45:27Z SNOMEDCT_US:236447005 UMLS:C0403477 HP:0012408 Medullary nephrocalcinosis The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). 2013-11-10T11:03:33Z SNOMEDCT_US:236446001 UMLS:C0403476 HP:0012409 Cortical nephrocalcinosis A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. peter 2013-11-23T02:38:00Z UMLS:C4021085 Abnormal shape of brain Abnormality of the brain human_phenotype HP:0012443 Abnormality of brain morphology Partial or complete wasting (loss) of brain tissue that was once present. peter 2013-11-23T02:46:15Z SNOMEDCT_US:278849000 SNOMEDCT_US:418143002 SNOMEDCT_US:52522001 UMLS:C0154671 UMLS:C0235946 Brain degeneration Brain wasting human_phenotype HP:0012444 Brain atrophy Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. peter 2013-11-23T03:45:58Z UMLS:C1857704 human_phenotype HP:0012447 Abnormal myelination An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. peter 2013-12-15T09:38:08Z MSH:D010146 SNOMEDCT_US:22253000 UMLS:C0030193 Pain human_phenotype HP:0012531 Pain A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. 2014-01-16T12:27:40Z UMLS:C4022839 HP:0012573 Global proximal tubulopathy Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. 2014-01-16T12:43:25Z SNOMEDCT_US:125510009 UMLS:C0545017 Mesangial proliferation HP:0012574 See Figure 3a of PMID:32866505. Mesangial hypercellularity A structural anomaly of the nephron. peter 2014-01-16T12:49:04Z UMLS:C4022838 Abnormality of the nephron human_phenotype HP:0012575 Abnormal nephron morphology The presence of complement 3 deposits in the glomerulus. 2014-01-16T01:08:21Z UMLS:C4022837 Renal C3 deposition C3 nephropathy HP:0012576 Glomerular C3 deposition Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. 2014-01-16T01:21:17Z UMLS:C3276821 HP:0012577 This finding is demonstrated on renal biopsy. Thin glomerular basement membrane A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. 2014-01-16T01:22:41Z MSH:D015433 SNOMEDCT_US:77182004 UMLS:C0017665 Membranous glomerulonephritis HP:0012578 Membranous nephropathy The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. 2014-01-16T01:26:20Z MSH:D009402 SNOMEDCT_US:44785005 UMLS:C0027721 Minimal change disease Minimal change nephropathy HP:0012579 Minimal change glomerulonephritis The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. 2014-01-16T01:34:27Z UMLS:C3671880 Ca phosphate nephrolithiasis Ca phosphate urolithiasis Ca2+ phosphate nephrolitiasis Ca2+ phosphate urolithiasis Calcium phosphate urolithiasis HP:0012580 Calcium phosphate nephrolithiasis An isolated cyst of the kidney. 2014-01-16T03:06:37Z SNOMEDCT_US:77945009 UMLS:C0268800 UMLS:C4022836 Simple kidney cyst Solitary renal cyst single cortical cyst HP:0012581 Simple renal cyst A bilateral form of developmental dysplasia of the kidney. 2014-01-16T03:14:35Z SNOMEDCT_US:204950001 UMLS:C0431698 HP:0012582 Bilateral renal dysplasia One sided hypoplasia of the kidney. 2014-01-16T03:15:30Z SNOMEDCT_US:204948009 UMLS:C0431691 Small kidney on one side Underdeveloped kidney on one side HP:0012583 Unilateral renal hypoplasia Two sided hypoplasia of the kidney. 2014-01-16T03:16:03Z SNOMEDCT_US:268232000 UMLS:C0431692 HP:0012584 Bilateral renal hypoplasia Atrophy of the kidney. 2014-01-16T03:21:19Z SNOMEDCT_US:197659005 UMLS:C0341698 Kidney degeneration HP:0012585 Renal atrophy A two-sided form of atrophy of the kidney. 2014-01-16T03:21:55Z UMLS:C4022835 Bilateral kidney degeneration HP:0012586 Bilateral renal atrophy Hematuria that is visible upon inspection of the urine. 2014-01-16T03:31:44Z SNOMEDCT_US:197941005 UMLS:C0473237 Bloody urine Gross hematuria HP:0012587 Macroscopic hematuria A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. 2014-01-16T03:47:57Z SNOMEDCT_US:236381000 UMLS:C0403397 SRNS HP:0012588 Genetic studies and biopsy are necessary. Treatment depends on result. Genetic forms are treated symptomatically with ACE-inhibitor or angiotensin receptor blockers. Non-genetic forms are usually treated with calcineurin inhibitors. Prognosis is worse than in SSNS. 50 % progress into end-stage renal disease. Steroid-resistant nephrotic syndrome A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. 2014-01-16T03:48:49Z UMLS:C4022834 HP:0012589 Multidrug-resistant nephrotic syndrome An abnormal amount of urine production. 2014-01-16T03:59:33Z UMLS:C3693260 HP:0012590 Abnormal urine output An abnormality in the concentration of electrolytes in the urine. peter 2014-01-16T05:44:11Z UMLS:C4022833 Urinary electrolyte imbalance human_phenotype HP:0012591 Abnormal urinary electrolyte concentration An anomalous finding in the examination of the urine for cells. 2014-01-17T12:01:16Z SNOMEDCT_US:310439007 UMLS:C0587955 HP:0012614 Abnormal urine cytology Functional anomaly of the kidney persisting for at least three months. 2014-01-17T01:14:52Z HP:0000106 HP:0001918 HP:0008671 MSH:D051436 SNOMEDCT_US:709044004 UMLS:C0748318 UMLS:C1561643 Chronic kidney disease Loss of renal function Progressive renal failure Progressive renal insufficiency Renal failure, progressive Renal insufficiency, progressive HP:0012622 Chronic kidney disease A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). 2014-01-17T01:20:48Z SNOMEDCT_US:431855005 UMLS:C2316401 HP:0012623 Proteinuria is commonly seen in stage 1 chronic kidney disease. Stage 1 chronic kidney disease A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). 2014-01-17T01:22:13Z SNOMEDCT_US:431856006 UMLS:C2316786 HP:0012624 Stage 2 chronic kidney disease A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). 2014-01-17T01:22:43Z SNOMEDCT_US:433144002 UMLS:C2316787 HP:0012625 Stage 3 chronic kidney disease A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). 2014-01-17T01:23:43Z SNOMEDCT_US:431857002 UMLS:C2317473 Stage 4 chronic kidney disease HP:0012626 Stage 4 chronic kidney disease High urine calcium in the presence of hypocalcemia. 2014-01-18T04:46:41Z UMLS:C2673441 Kidney Ca wasting Kidney Ca2+ wasting Kidney calcium wasting Renal Ca wasting Renal Ca2+ wasting HP:0012637 Renal calcium wasting A functional anomaly of the nervous system. peter 2014-01-19T08:02:46Z UMLS:C4022811 Abnormality of nervous system physiology human_phenotype HP:0012638 Abnormal nervous system physiology Abnormality of nervous system physiology A structural anomaly of the nervous system. peter 2014-01-19T08:03:08Z Fyler:4135 Fyler:4300 UMLS:C4022810 Abnormal nervous system morphology Abnormal shape of nervous system Abnormality of nervous system morphology human_phenotype HP:0012639 Abnormal nervous system morphology Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. peter 2014-02-01T01:25:42Z UMLS:C4022805 Abnormal inflammatory response human_phenotype HP:0012647 Abnormal inflammatory response A abnormal increase in the inflammatory response to injury or infection. peter 2014-02-01T01:29:58Z UMLS:C4022803 human_phenotype HP:0012649 Increased inflammatory response Abnormal structure of the gastrointestinal tract. peter 2014-03-23T01:09:02Z UMLS:C4021073 Abnormal shape of the digestive system Morphological abnormality of the GI tract Morphological anomaly of the digestive system human_phenotype HP:0012718 Morphological abnormality of the gastrointestinal tract Abnormal functionality of the gastrointestinal tract. peter 2014-03-23T01:10:47Z UMLS:C4022755 Functional abnormality of the GI tract GI dysfunction human_phenotype HP:0012719 Functional abnormality of the gastrointestinal tract A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. peter 2014-03-23T03:19:50Z MSH:D003371 SNOMEDCT_US:263731006 SNOMEDCT_US:272039006 SNOMEDCT_US:49727002 UMLS:C0010200 Cough Coughing human_phenotype HP:0012735 The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). There is agreement that an actue cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. Cough A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. peter 2014-04-03T12:20:28Z UMLS:C4022737 human_phenotype HP:0012759 This term should be used to describe abnormalities with onset in the developmental period. Neurodevelopmental abnormality A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. 2014-04-20T03:23:16Z SNOMEDCT_US:405935000 UMLS:C1319017 Perilobar nephrogenic rests HP:0012782 Perilobar nephrogenic rests are associated with Beckwith-Wiedemann syndrome (BWS) and hemi-hyperplasia. Perilobar nephrogenic rest A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. 2014-04-20T03:24:35Z SNOMEDCT_US:405934001 UMLS:C1319016 Intralobar nephrogenic rests HP:0012783 Intralobar nephrogenic rests are associated WAGR (Wilms tumor-aniridia-genital anomalies-retardation) syndrome and Denys-Drash syndrome (DDS). Intralobar nephrogenic rest Inflammation of the connective and adipose tissues surrounding the kidney. 2014-04-20T03:32:07Z MSH:D010501 SNOMEDCT_US:111404004 UMLS:C0031065 HP:0012784 Perinephritis Repeated episodes of pyelonephritis. 2014-04-22T09:24:10Z UMLS:C0748199 HP:0012787 Recurrent pyelonephritis An abnormal functionality of the male genital system. hecht 2014-06-09T11:20:46Z UMLS:C4020716 human_phenotype Abnormal male genital system physiology HP:0012874 Abnormal male reproductive system physiology Any deviation of the concentration of one or more proteins in the urine. robinp 2019-07-05T16:29:22Z human_phenotype HP:0020129 Abnormal urine protein level Abnormal structure of the basement membrane of the renal tubulus. 2019-07-05T16:55:32Z Abnormal tubular basement membrane morphology Increase in thickness of the basement membrane of the tubulus of the kidney. 2019-07-05T16:56:26Z Thickening of the tubular basement membrane Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. 2019-07-05T17:07:56Z Glomerular visceral epithelial cell hypertrophy Hypertrophy of visceral epithelial cells Podocytes, also called visceral glomerular epithelial cells, are terminally differentiated cells that line the outer surface of the glomerular basement membrane. Podocytes prevent protein leakage into the urinary space, and also provide important tensile strength to the glomerular capillaries, by opposing the hydrostatic pressure from within. In contrast to glomerular endothelial and mesangial cells, podocytes do not typically proliferate. Studies have shown that following podocyte loss, the inability of podocytes to proliferate contributes to the development of glomerulosclerosis. Consequently, in order to cover the denuded glomerular basement membrane, podocytes increase in size due to hypertrophy. Although this is initially compensatory, podocyte hypertrophy is likely maladaptive, and contributes to glomerulosclerosis. Podocyte hypertrophy Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. 2019-12-23T16:29:36Z Renal tubulointerstitial bacterial organisms Tubulointerstitial bacteria can be ascending or vascuolcentric/blood-born. This finding can be associated with neutrophil rich infiltrates. Tubulointerstitial bacterial infiltration Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. 2019-12-23T16:33:20Z Renal tubulointerstitial fungal organisms Tubulointerstitial fungi be ascending or vascuolcentric/blood-born. This finding can be associated with necrotizing tubulointerstitial lesions. Tubulointerstitial fungal infiltration Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. 2016-08-06T22:31:55Z Thickening of glomerular capillary wall A structural anomaly of the capillary blood vessels in the renal glomerulus. 2016-08-06T22:53:26Z Abnormalities of the glomerular capillary wall Abnormal glomerular capillary morphology 2016-08-12T11:24:56Z HPO:probinson human_phenotype HP:0025015 Abnormal vascular morphology Abnormal vascular morphology 2016-08-27T13:44:32Z HPO:probinson human_phenotype HP:0025031 Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. Abnormality of the digestive system Abnormality of the digestive system A functional anomaly of the digestive system. 2016-08-27T13:58:05Z HPO:probinson human_phenotype HP:0025032 Abnormality of digestive system physiology Abnormality of digestive system physiology A structural anomaly of the digestive system. 2016-08-27T13:58:23Z HPO:probinson human_phenotype HP:0025033 Abnormality of digestive system morphology Passage of many stools containing blood. 2016-10-15T13:58:14Z HPO:probinson Blood in stool Bloody stool Bloody bowel movement Bloody diarrhea Bloody diarrhoea human_phenotype HP:0025085 Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea. Bloody diarrhea A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. 2016-11-29T11:02:54Z HPO:probinson human_phenotype HP:0025142 Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting. Constitutional symptom Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. 2016-12-03T22:19:26Z HPO:probinson human_phenotype HP:0025153 Transient Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. 2017-02-11T10:48:34Z The thickness of the renal parenchyma decreases with age. The thickness of the renal parenchyma is correlated with renal function. Decreased renal parenchymal thickness An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). 2017-02-17T12:14:46Z Polygonal calices Polygonal-shaped calices Polygonal renal calices Increased number of calices of the kidney. 2017-02-17T12:17:58Z Polycalycosis A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. 2017-02-20T13:15:23Z Abnormality of medullary pyramid morphology Abnormal medullary pyramid morphology Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. 2017-02-20T13:16:42Z Hypoplasia of the medullary pyramids Renal medullary pyramid hypoplasia Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. 2017-02-20T13:33:20Z Endocapillary hypercellularity The endocapillary compartment of the glomerulus includes the endothelial cells, mesangial cells, and any leukocytes in the capillary lumens or mesangium. Glomerular endocapillary hypercellularity Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. 2017-02-20T14:07:24Z Extracapillary glomerular hypercellularity Extracapillary hypercellularity Glomerular extracapillary hypercellularity Any anomaly of the structure of the spleen. 2017-04-23T10:55:52Z HPO:probinson human_phenotype HP:0025408 Abnormal spleen morphology Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. 2017-04-23T11:45:23Z Necrosis of the kidney cortex Renal cortical necrosis is a type of actue kidney injury that results from insufficient perfusion of the renal cortex. Cortical necrosis commonly manifests clinically as a rapid loss of glomerular filtration rate, often with oliguria, granular casts, and low-level proteinuria. The key diagnostic features of renal cortical necrosis are (i) pale tissue with typical appearance of coagulative necrosis, affecting both tubules and glomeruli; (ii) pyknotic nuclei; and (iii) simplified, flattened epithelium of proximal tubules. Renal cortical necrosis A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. 2019-04-26T17:43:08Z HPO:probinson human_phenotype HP:0025634 Abnormal ureter physiology A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. SSNS Steroid-sensitive nephrotic syndrome A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. No biopsy needed. Relapses are treated with steroids according to local protocols. Steroid-sensitive nephrotic syndrome with infrequent relapses A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. Biopsy is necessary to determine underlying histology. Treatment with levamisole or immunosuppression (e.g. calcineurin inhibitors, cyclophosphamide or mycophenolat mofetil) in order to reduce steroid toxicity. Steroid-sensitive nephrotic syndrome with frequent relapses A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. SDNS Biopsy is necessary to determine underlying histology. Treatment with levamisole or immunosuppression (e.g. calcineurin inhibitors, cyclophosphamide or mycophenolat mofetil) in order to reduce steroid toxicity. Steroid-dependent nephrotic syndrome Presence of abnormal additional layers of the basement membrane of the glomerulus. UMLS:C3278307 Lamellated/basket-woven thickened glomerular basement membranes Lamellation of the glomerular basement membrane Glomerular basement membrane lamellation Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). UMLS:C4021056 Struvite kidney stones Struvite nephrolithiasis Inability of the kidneys to produce either concentrated or dilute urine. UMLS:C4022665 Isothenuria is seen in the final stages of renal failure. It reflects rapid flushing of fluid through the tubules in renal failure as the number of functioning nephrons decreases; the normal concentrating (particularly) and diluting mechanisms of the kidney do not have time to function. The consequence is that the specific gravity of the urine becomes approximately the same as that of the glomerular filtrate. Isothenuria Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. UMLS:C4022657 Abnormal drinking behavior Abnormal drinking behaviour human_phenotype HP:0030082 Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder. Abnormal drinking behavior Abnormally large size of glomeruli. UMLS:C4022604 Glomeruli enlarged Glomerulomegaly is a histologic finding that can be present in idiopathic pulmonary hypertension, congenital cyanotic heart disease, morbid obesity associated with sleep apnea syndrome, sickle cell disease, and polycythemic states. Glomerulomegaly Abnormality of vascular function. UMLS:C4022603 human_phenotype HP:0030163 Abnormal vascular physiology A collection of clotted blood surrounding the kidney. SNOMEDCT_US:197824007 UMLS:C0473124 The causes of a spontaneous perirenal hematoma (SPH) include immunologic disorders, neoplasms (renal cell carcinomas and adenomas), and collagen vascular diseases, but the main cause of a secondary perirenal hematoma is traumatic injury. Perirenal hematoma A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. SNOMEDCT_US:408642003 UMLS:C1319314 Renal urothelial carcinoma Transitional renal cell carcinoma renal TCC Renal transitional cell carcinoma A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. UMLS:C4073120 human_phenotype HP:0030669 Abnormal ocular adnexa morphology Any structural anomaly of the heart and great vessels. HP:0001632 HP:0002564 HP:0002565 UMLS:C4049796 Abnormality of cardiovascular system morphology Cardiovascular malformations human_phenotype HP:0030680 Abnormal cardiovascular system morphology Abnormality of cardiovascular system morphology A fluid-filled sac (cyst) located within the central nervous system. MSH:D020863 SNOMEDCT_US:277333006 UMLS:C0349606 CNS cyst Cyst of the central nervous system human_phenotype HP:0030724 Cysts of CNS are usually maldevelopmental in nature, but in some cases are acquired. The recognition of these cysts radiologically and confirmation by pathology is essential for prognostic purposes. Central nervous system cyst Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. SNOMEDCT_US:197660000 UMLS:C0151650 Kidney fibrosis Renal fibrosis Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. UMLS:C4054531 Dissolution or attenuation of mesangial matrix and degeneration of mesangial cells. In essence, mesangiolysis is an injurious process which affects the glomerular mesangium without causing obvious damage to the capillary basement membranes. The matrix swells, loosens, and eventually dissolves; the mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis. Mesangiolysis A high-pitched whistling sound associated with labored breathing. MSH:D012135 SNOMEDCT_US:56018004 UMLS:C0043144 Wheezing human_phenotype HP:0030828 Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less Wheezing An anomalous (adventitious) sound produced by the breathing process. SNOMEDCT_US:301273002 UMLS:C0231856 human_phenotype HP:0030829 Abnormal breath sound Abnormal breath sounds characterized by discontinuous clicking or rattling. Rales Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. Rhonchi Increased jugular venous pressure. Elevated jugular venous pressure An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. UMLS:C0855322 human_phenotype HP:0030850 Abnormal pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). UMLS:C0855323 human_phenotype HP:0030852 High pulse pressure An abnormal accumulation of protein in the glomerulus. 2017-01-13T21:44:36Z Glomerular deposits A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. 2017-04-18T13:00:44Z robinp human_phenotype HP:0030962 Abnormal morphology of the great vessels A chronic deviation from normal pressure in the systemic arterial system. 2017-04-18T13:55:40Z robinp Abnormal systemic BP human_phenotype HP:0030972 Abnormal systemic blood pressure The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. 2017-05-27T11:07:24Z Renal acidification defect Impaired urinary acidification An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography. 2017-07-02T12:16:46Z Perinephric fluid collection Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. 2017-08-12T18:30:25Z peter human_phenotype HP:0031263 Abnormal renal corpuscle morphology A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. 2017-08-12T18:34:59Z Abnormal morphology of Bowman capsule Abnormal morphology of Bowman's capsule Abnormal renal glomerular capsule morphology Abnormal Bowman capsule morphology Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary. 2017-08-12T18:36:29Z Abnormal podocyte morphology Abnormal visceral epithelial cell morphology Podocytes (or visceral epithelial cells) are terminally differentiated cells lining the outer surface of the glomerular capillaries. As a major component of the ultrafiltration apparatus, podocytes have a complex cellular architecture consisting of cell body, major processes that extend outward from their cell body, forming interdigitated foot processes that enwrap the glomerular capillaries. Abnormal glomerular visceral epithelial cell morphology An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier. 2017-08-12T19:38:16Z Loss of primary podocyte processes Two stages of podocyte foot process effacement (FPE) may clearly be distinguished. Within the first stage, foot processes undergo tremendous changes in shape, losing their regular interdigitating pattern and retracting into short irregularly shaped cell projections. Slit diaphragms are lost or displaced from their usual position at the base and replaced by occludens-type junctions between the deformed, broadened foot processes. These changes are necessarily associated with considerable movements of these processes in relation to the glomerular basemenet membrane (GBM). The second phase, the completed stage of FPE, includes retraction of the foot processes into the primary podocyte cell processes, leading to broad flattened disc-like projections that cover the GBM, finally merging with the cell bodies. At this point, the cell bodies have lost their usual position floating above the GBM within the filtrate in Bowman space. Instead they broadly adhere directly to the GBM. The subpodocyte space beneath the podocyte cell body has largely disappeared in this stage. Podocyte foot process effacement 2017-12-17T15:20:51Z peter human_phenotype HP:0031652 Abnormal aortic valve physiology Any functional abnormality of a cardiac valve. 2017-12-17T15:21:49Z peter human_phenotype HP:0031653 Abnormal heart valve physiology An atherosclerotic lesion located in the renal artery. 2017-12-17T18:25:00Z Renal artery atherosclerosis An unusually severe viral infection. 2017-12-17T22:28:59Z peter human_phenotype HP:0031691 The majority of viral infections acquired by nonimmunosuppressed individuals are asymptomatic or result in mild clinical manifestations. These individuals are able to mount effective immune responses that either clear the virus from the body or, for viruses that establish latency, maintain the virus in a dormant state. For individuals who are immunocompromised, because of a genetic immunodeficiency or immunosuppressive drug therapy, viral infections may result in life-threatening disease. Such patients present with infections that are severe, persistent, recurrent, or refractory to therapy and are usually caused by viruses of low virulence prevalent in the community. Severe viral infection An unusually severe adenovirus infection. 2017-12-17T22:36:24Z peter human_phenotype HP:0031694 Adenoviruses can cause an array of clinical diseases, including conjunctivitis, gastroenteritis, hepatitis, myocarditis, and pneumonia. Most of these occur in children younger than the age of 5 years and are generally self-limiting illnesses. Severe adenovirus infection Any structural anomaly of the ear. 2017-12-18T00:20:14Z peter Fyler:4867 human_phenotype HP:0031703 Abnormal ear morphology Any functional anomaly of the ear. 2017-12-18T00:20:24Z peter human_phenotype HP:0031704 Abnormal ear physiology The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. 2018-02-25T14:55:46Z peter human_phenotype Natural history of disease HP:0031797 Clinical course Any structural anomaly of the mouth, which is also known as the oral cavity. 2018-04-29T14:55:47Z peter human_phenotype HP:0031816 Abnormal oral morphology The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body. 2018-07-04T12:09:29Z Accessory renal artery Double renal artery Double renal arteries with aortic origin is a benign condition representing the persistence of the embryonic vessels, the lateral branches of the mesonephros, within the renal ascent. The embryonic urogenital ridge from which the kidneys develop is supplied by several paired arteries: the rete arteriosum urogenitale. The later developing metanephric kidneys retain only a single pair of mesonephric arteries, however a variable number may persist. Renal artery duplication An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. 2018-09-03T00:17:49Z peter human_phenotype HP:0032039 Abnormality of the ocular adnexa A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. 2018-11-04T22:23:03Z peter human_phenotype HP:0032101 Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. 2018-12-16T15:11:20Z peter Unusual course of infection human_phenotype HP:0032169 Severe infection An abnormal level of an analyte measured in the blood. 2019-01-12T13:45:59Z peter human_phenotype HP:0032180 Abnormal circulating metabolite concentration An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. 2019-01-27T12:48:52Z peter human_phenotype HP:0032245 Abnormal metabolism Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. 2019-01-27T20:07:59Z peter Increased BP human_phenotype HP:0032263 Increased blood pressure Circumferential fibrosis in the interstitium surrounding Bowman's capsule 2019-02-26T14:20:31Z PMID:32866505 Periglomerular fibrotic thickening Periglomerular fibrosis is characterized by glomeruli with open capillaries, but lamellated, frequently wrinkled, Bowman capsular basement membrane and circumferential layers of interstitial-type collagen around, within, or between the usually thickened, frequently lamellated, Bowman capsule basement membrane. Periglomerular fibrosis Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. Abnormal renal insterstitial morphology Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. FCs are the outcome of cellular lipid accumulation due to lipid metabolic dysfunction. Normally, lipid is in a dynamic equilibrium outside and inside of the cell. When factors facilitate cell lipid intake or reduce its efflux, it subsequently resulted in cellular lipid accumulation and FC formation. Renal interstitial FCs are commonly encountered in Alport syndrome and are occasionally observed in various other kidney diseases, including idiopathic membranous nephropathy (IMN), IgA nephropathy (IgAN), focal and segmental glomerulosclerosis (FSGS), and membranoproliferative glomerulonephritis. Renal interstitial foam cells Accumulation of foam cells (FC) in glomeruli of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. Renal glomerular foam cells Increased numbers of neutrophils in the interstitial tissues of the kidney. Renal interstitial neutrophil infiltration Increased numbers of eosinophils in the interstitial tissues of the kidney. Renal interstitial eosinophil infiltration Increased numbers of plasma cells in the interstitial tissues of the kidney. Renal interstitial plasma cell infiltration The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. Renal interstitial calcium oxalate Infiltration of the renal tubular epithelium by lymphocytes. Renal lymphocytic tubulitis Infiltration of the renal tubular epithelium by neutrophils. Renal neutrophilic tubulitis Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. Hemosiderin is an iron-containing, golden-brown, granular pigment derived from ferritin, the initial iron-storage protein. As iron accumulates within the cell, aggregates of ferritin molecules form hemosiderin. Upon hemolysis of red blood cells, hemoglobin alpha-beta dimers are released that, if unbound to haptoglobin, are filtered by the glomerulus and appear in the urine as hemoglobinuria. The hemoglobin dimers are taken up by renal proximal tubular cells and degraded and the free chelatable iron is stored as hemosiderin in the lysosomes. Hemosiderin deposition in kidney tubular cells has been reported in different types of hemolytic anemia including autoimmune hemolytic anemia and paroxysmal nocturnal hemoglobinuria and sickle cell anemia and after cardiac valve replacement with residual valvular regurgitation or perivalvular leak. Renal interstitial hemosiderin Naked basement membranes without tubular epithelium. Denuded tubular basement membrane Renal tubular basement membrane denudation Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. Renal tubular epithelial cell detachment Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. Renal tubular epithelial cell cytoplasmic vacuolization At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. Renal tubular epithelial cell sloughing Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. Blebbing of apical cytoplasm of renal tubular epithelial cells Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine. Abnormal renal tubular epithelial morphology Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. Renal tubular epithelial cell hyaline droplets Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. Multinucleation of renal tubular epithelial cells Tubular epithelium with nucleoli clearly visible at 100-fold magnification. Prominent nucleoli of renal tubular epithelial cells Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. Renal tubular epithelial cell simplification Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. Renal tubular epithelial cell mitosis At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. High N/C ratio of renal tubular epithelial cells High renal tubular epithelial cell N/C ratio Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. Renal tubular epithelial lipofuscin Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. Renal tubular epithelial cell swelling A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. Thyroidization-type tubular atrophy A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. Endocrinization pattern of tubular atrophy Renal tubular atrophy, endocrine-type Endocrine-type tubular atrophy Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. Renal tubulointerstitial mycobacterial organisms Tubulointerstitial mycobacterial infiltration Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. Renal tubular epithelial cells process reabsorbed urinary hemoglobin to hemosiderin. Renal tubular epithelial cell hemosiderin Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. Renal interstitial amyloid Renal interstitial amyloid deposition Renal interstitial amyloidosis Renal interstitial amyloid deposits Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. Renal glomerular amyloid deposition Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). Renal interstitial immunoglobulin deposition Monoclonal immunoglobulin deposition is characterized by nonorganized electron-dense granular deposits predominantly localized in basement membranes of the kidney (other organs may additionally be affected). By light microscopy, tubular lesions are characterized by the deposition of a refractile, eosinophilic, periodic acid-Schiff (PAS)-positive, ribbon-like material along the tubular basement membrane. immunofluorescence examination of the kidney. Immunofluoerescence may show evidence of monotypic light or heavy chain fixation along tubular basement membranes. Electron microscopy can show finely to coarsely granular electron-dense deposits along the outer (interstitial) aspect of the tubular basement membranes. Renal interstitial immunoglobulin deposits A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. Renal interstitial haemorrhage Renal interstitial hemorrhage Cell death (necrosis) affecting one or more parts of the kidney. Renal parenchymal necrosis Renal necrosis A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney). Detecting its presence can be diagnostically challenging because, in its chronic form, it usually develops insidiously, and in some cases its appearance can even simulate a renal tumor. The presence of a perinephric collection of purulent material around the kidneys occurs more often insidiously as a secondary phenomenon to upper tract urosepsis, classically in association with an infective staghorn renal calculus. Perinephric abscess An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. Renal abscess Renal parenchymal abscess Most renal abscesses are caused by gram-negative bacteria and are commonly caused by ascending infection associated with urologic abnormality, obstruction or calculi. Intrarenal abscess At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. Condensed chromatin of renal tubular epithelial cells Hyperchromasia of renal tubular epithelial cells Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. Tubular ectasia By definition, ,tubular luminal dilatation excludes simplifcation, which is defined as a tubular cross-section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush borderinvolving over 50 percent of the tubular cells in cross-section, resulting in an apparent increase in the size of lumen, without presence of casts. Tubular luminal dilatation Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. Tubular casts Casts can be subsequently eliminated via the urine and may be seen by microscopy of the urine sediment, which should be coded separately using an appropriate term from the Cylindruria subhierarchy (HP:0012615). Intratubular casts may have various compositions with different morphologic and staining characteristics. Both hyaline and granular casts may be observed in a number of renal diseases. Commonly observed casts are hyaline (eosinophilic, homogeneous proteinaceous) casts associated with increased glomerular permeability such as with chronic progressive nephropathy and granular (necrotic cellular debris) casts. Renal intratubular casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). Intratubular bilirubin casts Casts that contain red blood cells and are located within the tubuli of the kidney. Intratubular erythrocyte cast Intratubular casts composed of vancomycin aggregates and uromodulin. The casts appear as nonspecific proteinaceous casts within the tubular lumenss on light microscopy. Immunostaining can be used to confirm the presence of vancomycin. Intratubular vancomycin casts Casts that contain white blood cells and are located within the tubuli of the kidney. Intratubular leukocyte casts Renal intratubular crystals Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. Intratubular dihydroxyadenuria crystals The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. This feature can be ascertained by (i) Light microscopy: The biopsy shows chronic tubulointerstitial nephritis with fractured casts that first involve the distal tubules. The casts have a metachromatic appearance due to their mixed composition of light chain (Bence-Jones) and Tamm-Horsfall (uromodulin) proteins. Surrounding cellular reaction can extend to formation of syncytial giant cells, and in the early phase may be a polymorphonuclear granulocyte reaction. (ii) Immunofluorescence microscopy: Monoclonal staining of casts for either kappa or lambda light chains confirm the diagnosis, but clonal staining may be absent in some cases. Staining of formalin-fixed paraffin-embedded material after pronase digestion may unmask clonal staining in some of these cases. (iii) Electron microscopy: Glomeruli are unremarkable, and casts show granular electron-dense material. Crystalline substructure may be seen within these light chain casts. In rare cases, deposits of amyloid may form on the surface of the casts. Intratubular light-chain casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. Intratubular haemoglobin casts Intratubular hemoglobin casts Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. Renal papillary necrosis A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. Intratubular Tamm-Horsfall (uromodulin) casts Intratubular hyaline casts Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. Intratubular myoglobin cast Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. Tubulointerstitial microganismal infiltration Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. Renal tubulointerstitial viral inclusions Tubulointerstitial viral infiltration Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. Renal interstitial oedema Renal interstitial edema Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. Renal interstitial granulomata Renal interstitial granulomas An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. Renal interstitial necrotizing granulomata Granulomatous inflammation is a distinctive form of chronic inflammation produced in response to various infectious, autoimmune, toxic, allergic, and neoplastic conditions. Renal interstitial necrotizing granulomas Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. Renal interstitial non-necrotizing granulomata Renal interstitial non-necrotizing granulomas Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. Renal interstitial deposits Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). Renal interstitial mononuclear cell infiltration Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. Renal interstitial xanthogranulomatous inflammation Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. Renal tubular epithelial cell apoptosis The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. Tubularization of Bowman capsule Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. Renal interstitial inflammation Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. Renal cortical interstitial inflammation Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. Renal medullary interstitial inflammation The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. Tubular atrophy (TA) is defined as loss of specialized transport and metabolic capacity and typically manifested by small tubules with cells with pale cytoplasm or dilated, thin tubules. TA is usually associated with IF, but probably has distinct mechanisms related to blood flow, glomerular filtration rate (GFR) or tubular continuity loss. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). Renal interstitial fibrosis The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. Renal interstitial calcium phosphate deposits Abnormal structure or form of the lumen (opening) of kidney tubules. Abnormal renal tubular luminal morphology Abnormal renal tubular lumen morphology Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. Renal tubular viral cytopathic changes A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. Common-type renal tubular atrophy Usual-type tubular atrophy Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. Renal tubular cytomegalovirus inclusions Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Renal tubular adenovirus inclusions Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. The inclusions are generally accompanied by a patchy pleomorphic interstitial infiltrate with lymphocytes, plasma cells, and occasional neutrophils with associated interstitial edema, tubulitis, and tubular injury. Infected tubular epithelial cells have enlarged nuclei with amorphous inclusions. Polyomavirus infection occurs in the transplanted allograft kidney and in the native kidney of immunosuppressed patients, and is usually related to BK virus (80%), JC virus (10%-20%), and less frequently simian virus 40 (SV40). Renal tubular polyoma virus inclusions Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. Renal tubular herpes simplex virus inclusions The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. Acanthocyturia Dysmorphic hematuria Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. Intratubular calcium oxalate casts Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. Intratubular calcium phosphate casts Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. Tubular microcystic change A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. Complex renal cyst Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). Fabry disease is a rare, progressive lysosomal disorder caused by mutations in the GLA gene. GLA encodes the homodimeric glycoprotein, alpha-galactosidase A, which acts in lysosomes to degrade globotriaosylceramide (GL-3) and its deacylated form, globotriaosylsphingosine (lyso-Gb3). In Fabry disease, the activity of alpha-galactosidase A is deficient or absent, leading to progressive accumulation of glycolipids, primarily GL-3 and lyso-Gb3, in the plasma and numerous cell types throughout the body. Renal interstitial globotriaosylceramide inclusions An increased number of IgG4+ plasma cells in the interstitial space of the kidney. IgG4-related tubulointerstitial nephritis is characterized by an increased number of IgG4+ plasma cells per high-power field on renal biopsy in addition to either elevated serum IgG4 or evidence of extra renal IgG4-related disease. Renal interstitial IgG4+ plasma cell infiltration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. 2020-08-29T11:59:15Z peter human_phenotype HP:0033107 Abnormal circulating proteinogenic amino acid concentration An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. 2020-09-05T13:35:03Z peter human_phenotype HP:0033127 Abnormality of the musculoskeletal system Anomalous echogenicity of the kidney on ultrasound examination. 2020-09-09T12:48:13Z For diagnostic ultrasonography, high-frequency sound waves are generated and received by the ultrasonography transducer, which is placed on the skin. Returning sound waves (echoes) are processed by a computer and displayed on a computer screen. A gray-scale image is produced when the ultrasonography machine operates in B-mode, or brightness mode, in which returning echoes are represented as bright dots; the brightness of the dots represents the strength of the reflected echoes. Echogenicity, therefore, refers to how bright or dark something appears in the gray-scale image; the brighter something appears, the more echogenic it is. With regard to the kidney, echogenicity generally refers to how bright or dark the kidney parenchyma appears in comparison to the liver. Abnormal renal echogenicity Increased echogenecity of the medullary region of the kidney. 2020-09-09T12:57:19Z Increased renal medullary echogenicity Increased echogenicity of the kidney parenchyma results from the increased presence of material that can reflect sound waves back, thus increasing its brightness on the ultrasonography image. Because fibrous tissue (e.g., glomerulosclerosis, interstitial fibrosis) increases echogenicity, CKD is typically associated with increased echogenicity. Inflammatory infiltrates may explain the increased echogenicity that occurs with acute interstitial nephritis and GN. Proteinaceous casts are thought to cause the increased echogenicity associated with acute tubular necrosis (ATN). Calcium deposits and stones are very echogenic; thus, medullary nephrocalcinosis is characterized by increased medullary echogenicity and a relatively normal-appearing cortex. Several renal diseases are associated with medullary nephrocalcinosis, including medullary sponge kidney, hyperparathyroidism, renal tubular acidosis, and vitamin D toxicity. Other kidney diseases that have been associated with a hyperechoic medulla include sickle cell disease and gout Renal medullary hyperechogenicity Increased echogenecity of the kidney cortex. 2020-09-09T13:01:52Z Renal cortical hyperechogenicity 2020-09-09T13:03:25Z Hypoechogenic renal cortex Renal cortical hypoechogeneity 2020-10-24T11:27:37Z Blockage (obliteration) of the capillary lumen by increased extracellular collagenous matrix, with or without hyalinosis or foam cells. Obliterative abnormality of the renal glomerulus Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. 2020-10-24T11:31:00Z Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. Glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. 2020-10-24T12:08:52Z Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. Perihilar glomerular hyalinosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. 2020-10-24T12:19:40Z Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. Glomerular hyalinosis at the tubular pole Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. 2020-10-24T12:22:00Z Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. Glomerular hyalinosis away from the vascular and tubular poles Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. 2020-10-30T10:23:28Z Abnormal glomerular parietal epithelial cell morphology Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. 2020-10-30T10:27:18Z Hyperplasia of the glomerular parietal epithelial cell Glomerular parietal epithelial cell hyperplasia An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present 2020-10-30T10:42:41Z Hypertrophy of the glomerular parietal epithelial cell Glomerular parietal epithelial cell hypertrophy An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. 2020-10-30T11:00:07Z Capsular hyaline drops within Bowman's capsule Bowman capsular hyaline drops An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. 2020-10-30T11:05:52Z Glomerular synechial adhesion Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. 2020-10-31T12:41:42Z Abnormal glomerular mesangial cellularity Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. 2020-10-31T12:50:08Z Abnormal glomerular mesangial matrix morphology Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. 2020-10-31T12:54:34Z May be obsereved with IgA nephropathy. Paramesangial deposits Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. 2020-10-31T12:56:56Z Mesangial hyaline deposition Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. 2020-11-01T12:37:49Z Detachment of visceral epithelial cells Podocyte detachment Separation from GBM without intervening immune deposits. See Figure 5d of PMID:32866505. Visceral epithelial cell detachment Cytoplasmic projections into the urinary space from the luminal side of the podocyte. 2020-11-01T12:39:45Z Podocyte microvillous transformation Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. 2020-11-01T12:45:51Z Podocyte cap Visceral epithelial cell capping Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. 2020-11-28T14:56:45Z Renal artery aneurysm Lamellated intracytoplasmic lipid inclusions within podocytes. 2020-11-28T15:14:49Z Podocyte myelin inclusions Podocyte myelin figures Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. 2020-11-28T15:19:59Z Glomerular pseudocrescent Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. 2020-11-28T15:58:18Z Abnormal glomerular capillary lumen morphology Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. 2020-11-28T16:01:47Z Deflation of the glomerular tuft Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). 2020-11-28T16:04:12Z Collapse of glomerular capillary walls Wrinkling and folding of the glomerular basemement membrane (GBM) with partial or complete occlusion of the capillary lumen: wrinkling and folding of the GBM with partial or complete occlusion of the capillary lumen. The wrinkling is generally made by small and/or big irregular folds of the GBM. Glomerular capillary collapse Global distention of glomerular capillaries with intraluminal intact red blood cells. 2020-11-28T16:07:32Z Glomerular congestion Glomerular capillary congestion Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. 2020-11-28T16:09:35Z Glomerular capillary microaneurysm An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. 2020-11-28T16:20:58Z Abnormal glomerular endothelial cell morphology Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. 2020-11-28T16:22:34Z Loss of glomerular endothelial cell fenestration Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. 2020-11-28T16:25:15Z Glomerular endotheliosis Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. 2020-11-28T16:27:12Z Glomerular endothelial tubuloreticular inclusion Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. 2020-11-28T16:33:47Z Glomerular fibrinoid necrosis Any abnormal sttructure of the glomerular basement membrane. 2020-11-28T20:24:00Z The (GBM) is an integral component of the glomerular filtration barrier; an important and highly complex capillary wall that is exposed to mechanical forces driven by capillary hydrostatic pressure. This barrier is permeable to water and small molecules, and selectively withholds cells and macromolecules such as albumin in the circulation. Abnormal glomerular basement membrane morphology Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. 2020-11-28T20:34:43Z Segmentally thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. 2020-11-28T20:36:30Z Diffusely thickened glomerular basement membrane Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. 2020-11-28T20:39:15Z Thickened glomerular basement membranes with no electron dense deposits 2020-11-28T21:12:16Z Thickened glomerular basement membranes with electron dense deposits Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. 2020-11-28T21:13:41Z This feature can be observed on silver staining or electron microscopy. Glomerular basement membrane lucencies 2020-11-28T21:16:42Z Delicate, silver positive projections that extend at right angles from the glomerular basement membrane (GBM) out into the urinary space, creating an irregular GBM profile. Glomerular basement membrane spikes Irregular folding of the glomerular basement membrane with an intact lamina densa. 2020-11-28T21:18:45Z Wrinkling and folding of the glomerular basement membrane (GBM) without glomerular epithelial cell hypertrophy and hyperplasia (formerly known an ischemic type of collapse). The urinary space is patent. The wrinkling is generally made by small regular infoldings of the GBM. Glomerular basement membrane wrinkling Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. 2020-11-28T21:22:38Z Glomerular subendothelial widening Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. 2020-11-28T21:25:04Z Glomerular karyhorrhectic debris An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. 2020-11-28T21:27:52Z Glomerular fibrin thrombus Intracapillary amorphous, eosinophilic material consisting of immune deposits. 2020-11-28T21:29:20Z Glomerular hyaline pseudothrombus Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. 2020-11-28T21:30:32Z Glomerular lipoprotein thrombus Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. 2020-11-28T21:33:16Z Mesangial Immune complex deposition Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. 2020-11-28T21:35:21Z Binucleated podocytes Binucleated visceral epithelial cells Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. 2020-11-28T21:38:10Z Multinucleated podocytes Podocyte multinucleation Multinucleated visceral epithelial cells Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. 2020-11-29T13:07:36Z Bowman's capsule is a part of the nephron that forms a cup-like sack surrounding the glomerulus. The capsule encloses a space called Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. Bowman's capsule, Bowman's space, and the glomerular capillary network and its supporting architecture can collectively be thought of as composing the glomerulus. Abnormal Bowman space morphology Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. 2020-11-29T13:10:01Z Collagenization of the urinary space Urinary space collagenization Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. 2020-11-29T13:17:07Z Hyperplasia of visceral epithelial cells Podocyte hyperplasia Visceral epithelial cell hyperplasia Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. 2020-11-29T13:22:46Z Visceral epithelial hyaline droplets Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. 2020-11-29T13:27:03Z The crescent is an unspecific histopathological lesion that can be triggered by a variety of different underlying disorders. Whenever, microvascular injury leads to rupture of the glomerular basement membrane (GBM), the leakage of plasma proteins drives parietal epithelial cell hyperplasia as the key cellular component of the crescent. Single nephron GFR decreases because of tuft collapse, rupture of the Bowman capsule, and influx of immune cells and fibroblasts are all secondary events that may or may not occur in individual glomeruli. Periglomerular immune cell infiltrates or fibrotic encasting of the activated parietal cells (fibrocellular crescents) are subsequent events that may affect the dynamics and prognosis of the disease. Glomerular crescent formation A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. 2020-11-29T13:31:42Z Cellular crescent A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. 2020-11-29T13:33:28Z Fibrocellular crescent A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. 2020-11-29T13:37:23Z Fibrous crescent Loss of mesangial cells segmentally or globally. 2020-11-29T13:43:05Z Mesangial cell loss can be observed in the setting of mesangiolysis. Mesangial cell loss Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. 2020-11-29T13:57:16Z Glomerular obsolescence Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. 2020-11-29T13:59:59Z Glomerular capillary wall duplication without cellular interposition Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. 2020-11-29T14:01:35Z Glomerular capillary wall duplication with cellular interposition Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). 2020-12-01T11:42:14Z peter human_phenotype HP:0033353 Abnormal blood vessel morphology Any deviation from the normal concentration of a metabolite in urine. 2020-12-01T12:00:51Z peter human_phenotype HP:0033354 As water reabsorption in kidneys affect urinary solute concentrations, various methods are applied to normalize the measured concentration. Frequently, concentrations are reported as a ratio to urinary creatinine. The HPO terms in this subhierarchy therefore use the word 'level' to indicate that appropriate normalization has been performed before concluding that the amount of the indicated metabolite is abnormal. Abnormal urine metabolite level Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. 2021-01-09T14:19:16Z Extracapillary fibrin can be associated with glomerular basement membrane (GBM) disruption. In this context, the word aextracapillary refers to abnormalities seen in Bowman's space outside of the GBM. Glomerular extracapillary fibrin The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. 2021-01-09T14:24:54Z Bowman-space proteinaceous debris Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. 2021-01-10T12:12:18Z See Figure 3d of PMID:32393263 and Figures 1 and 2 of PMID:33276871 for examples. Podocyte infolding A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. 2021-01-10T12:39:06Z Disruption of the glomerular basement membrane Glomerular basement membrane rupture Disruption of the glomerular basement membrane (GBM) may occur in settings of inflammation (ANCA/antiGBM antibodies) or could be seen due to structural weakness of the GBM (Collagen IV disorders). This feature can be associated with extracapillary fibrin. The definition of this term intends to exclude glomeruli at the edge of the core where rupture could be iatrogenic or mechanical. Glomerular basement membrane disruption Anomalous appearance or structure of the surface of the glomerular basement membrane. 2021-01-10T12:45:09Z Abnormal glomerular basement membrane texture Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. 2021-01-10T12:47:35Z Glomerular basement membranes with powdery deposit Glomerular basement membranes powdery deposit Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. 2021-01-10T12:54:45Z Glomerular endocapillary hypercellularity consisting of leukocytes The optimal demonstration of leukocytes may require immunohistochemistry. Glomerular endocapillary leukocyte hypercellularity Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. 2021-01-10T12:57:48Z Glomerular endocapillary neutrophil hypercellularity Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. 2021-01-10T12:59:28Z Glomerular endocapillary foam-cell hypercellularity A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). 2021-01-10T13:02:15Z Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). Global mesangial sclerosis Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. 2021-01-10T13:12:40Z Podocyte cytoskeletal condensation Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. 2021-01-10T13:15:21Z Increased glomerular mesangial matrix Mesangial matrix expansion Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. 2021-01-10T13:18:43Z See Figure 3 of PMID:25852856. Glomerular basement membrane amyloid spicule Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. 2021-01-10T13:21:47Z Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). Segmental glomerulosclerosis Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. 2021-01-10T13:24:42Z Segmental glomerulosclerosis, perihilar pattern Perihilar segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. 2021-01-10T13:27:31Z Segmental glomerulosclerosis, tip variant Tip variant segmental glomerulosclerosis Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. 2021-01-10T13:29:02Z Segmental glomerulosclerosis away from the vascular and tubular poles Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. 2021-01-10T13:35:30Z See Figure 1 of PMID:33329990 for an example. Glomerular basement membrane electron dense deposits Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. 2021-01-10T13:41:11Z The glomerular filtration barrier consists of two cells (podocytes and endothelial cells) and the glomerular basement membrane (GBM), a specialized extracellular matrix that lies between them. Subendothelial glomerular basement membrane electron dense deposits Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. 2021-01-10T14:16:42Z Subepithelial glomerular basement membrane electron dense deposits Extracellular mesangial accumulation of slender proteinaceous fibers. 2021-01-21T13:33:47Z Mesangial fibril deposition Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. 2021-01-21T13:36:19Z Mesangial fibrillary deposits Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. 2021-01-21T13:38:19Z Mesangial microfibril deposition Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. 2021-01-21T13:40:05Z Mesangial immunotactoid deposits Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. 2021-01-21T13:43:39Z Mesangial amyloid deposition Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. 2021-01-21T13:46:06Z Nodular mesangiosclerosis is a pattern that can be observed together with mesangolysis but may also occur independently and so should be coded separately. Nodular mesangiosclerosis Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. 2021-01-28T02:08:09Z Staghorn renal stone Staghorn calculus Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). 2021-01-30T14:16:36Z Fibrillar glomerular subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). 2021-01-30T14:44:51Z Glomerular amyloid subepithelial deposits A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). 2021-01-30T14:47:50Z Fibrillary glomerular subepithelial deposits A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). 2021-01-30T14:51:36Z Glomerular subepithelial immune-complex deposits A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). 2021-01-30T14:54:52Z Glomerular hyaline subepithelial deposits Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). 2021-01-30T14:55:42Z Glomerular subepithelial deposits Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. 2021-01-30T16:24:44Z Glomerular capillary wire loop deposits Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. 2021-04-16T13:23:12Z Lupus nephritis A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. 2021-04-16T13:34:10Z Class IV lupus nephritis Diffuse lupus nephritis A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy. 2021-04-16T13:36:24Z Class II lupus nephritis Mesangial proliferative lupus nephritis A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence. 2021-04-16T13:41:02Z Class I lupus nephritis Minimal mesangial lupus nephritis A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis 2021-04-16T13:42:22Z Class V lupus nephritis Membranous lupus nephritis A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations 2021-04-16T13:45:49Z Class III lupus nephritis Focal lupus nephritis A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity. 2021-04-16T13:47:29Z Class VI lupus nephritis Advanced sclerotic lupus nephritis Decreased renal tubular reabsorption of magnesium. 2021-04-28T13:05:35Z 96% of filtered magnesium is reabsorbed in the tubule. 10%-30% of the filtered magnesium is absorbed in the proximal tubule, the thick ascending limb absorbs 40%-70% of filtered magnesium. Impaired renal tubular reabsorption of magnesium Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells. 2021-04-30T11:02:02Z Xanthogranulomatous pyelonephritis is an uncommon chronic destructive granulomatous process of renal parenchyma in association with long-term urinary tract obstruction and infection. Xanthogranulomatous pyelonephritis Decreased renal tubular reabsorption of uric acid. 2021-05-04T14:21:45Z Uric acid excretion rate is the product of the filtered load (which can be approximated as plasma ultrafilterable urate multiplied by tge glomerular filtration rate) and fractional excretion of urate (FEUA), which represents the percentage of filtered urate that is excreted in the final urine. Impaired renal tubular reabsorption of uric acid Anomalous structure of a blood vessel in the kidney. 2021-05-16T17:27:46Z Abnormal renal vascular morphology An anomalous structure of an artery located in the kidney. 2021-05-16T17:29:18Z Abnormal kidney arterial blood vessel morphology Abnormal intrarenal artery morphology Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla. 2021-05-16T17:30:06Z Abnormalities of arcuate arteries Abnormal arcuate artery morphology Abnormal structure of a vein located inside the kidney parenchyma. 2021-06-02T18:53:31Z Abnormal intrarenal vein morphology Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla). 2021-06-02T18:55:40Z Abnormal arcuate vein morphology Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct). 2021-06-02T18:58:25Z Abnormal interlobular vein morphology Any structural anomaly located in the the inside space of the interlobular veins of the kidney. 2021-06-02T19:00:07Z Abnormal morphology of the interlobular vein lumen Abnormal interlobular vein lumen morphology Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-02T19:03:13Z Cholesterol emboli within interlobular vein lumen Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney. 2021-06-02T19:06:12Z Intraluminal thrombi within interlobular veins Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney. 2021-06-02T19:07:57Z Organized thrombi within interlobular vein lumen Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, 2021-06-23T17:32:26Z Abnormal peritubular capillary morphology Anomalous structure of the peritubular capillaries located in the cortex of the kidney. 2021-06-23T17:35:32Z Abnormal cortical peritubular capillary morphology Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers. 2021-06-23T17:37:14Z Multilamellation of basement membranes within cortical peritubular capillaries Multilamellation of cortical peritubular capillary basement membranes Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. 2021-06-23T17:41:03Z Cortical peritubular capillaritis Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney. 2021-06-23T17:44:05Z Abnormal cortical peritubular capillary lumen morphology Anomalous structure of the peritubular capillaries located in the medulla of the kidney. 2021-06-23T17:46:31Z Abnormal medullary peritubular capillary morphology Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. 2021-06-23T17:47:37Z Medullary peritubular capillaritis Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open). 2021-06-23T19:01:20Z Medullary peritubular capillary erythrocyte congestion Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers. 2021-06-23T19:02:46Z Multilamellation of basement membranes within medullary peritubular capillaries Multilamellation of medullary peritubular capillary basement membranes Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney. 2021-06-23T19:04:46Z Abnormal medullary peritubular capillary lumen morphology Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-23T19:09:26Z Cholesterol emboli within the medullary peritubular capillary lumen Medullary peritubular capillary lumen cholesterol emboli Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney. 2021-06-23T19:10:41Z Intraluminal thrombi within medullary peritubular capillaries Medullary peritubular capillary intraluminal thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney. 2021-06-23T19:17:24Z Organised thrombi within the medullary peritubular capillary lumen Organized thrombi within the medullary peritubular capillary lumen Medullary peritubular capillary lumen organized thrombi Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-23T19:22:33Z Cortical peritubular capillary lumen cholesterol emboli Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney. 2021-06-23T19:23:11Z Intraluminal thrombi within cortical peritubular capillaries Cortical peritubular capillary intraluminal thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney. 2021-06-23T19:24:00Z Cortical peritubular capillary lumen organized thrombi Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. 2021-06-23T19:25:35Z Abnormal arcuate vein lumen morphology Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-23T19:27:11Z Cholesterol emboli within arcuate vein lumen Arcuate vein lumen cholesterol emboli Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney. 2021-06-23T19:29:12Z Intraluminal thrombi within arcuate veins Arcuate vein intraluminal thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney. 2021-06-23T19:31:36Z Organised thrombi within arcuate vein lumen Organized thrombi within arcuate vein lumen Arcuate vein lumen organized thrombi Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. 2021-06-23T19:33:08Z Abnormal arcuate vein intima/media morphology Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining. 2021-06-23T19:35:40Z Intimal mucoid edema within arcuate veins Intimal mucoid oedema within arcuate veins Arcuate vein intimal mucoid edema Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney. 2021-06-23T19:47:34Z Myxomatous change within arcuate vein intima/media Arcuate vein intimal/medial myxomatous degeneration Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. 2021-06-23T19:48:45Z Amyloidosis within arcuate vein intima/media Arcuate vein intima/medial amyloidosis Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney. 2021-06-23T19:58:07Z Abnormal interlobular artery morphology Abnormal cortical radial artery morphology Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney. 2021-06-23T20:01:14Z Abnormal interlobular arterial lumen morphology Abnormal cortical radial artery lumen morphology Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-23T20:02:50Z Cortical radial artery lumen cholesterol emboli Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla. 2021-06-23T20:15:22Z Abnormalities of the arcuate arterial intima/media Abnormal arcuate artery intima/media morphology Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy 2021-06-23T21:57:32Z Amyloidosis within interlobular arterial intima/media Interlobular arterial intima/media amyloidosis Cortical radial artery intimal/medial amyloidosis Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney. 2021-06-23T22:00:14Z Abnormalities of the interlobular arterial intima/media Abnormal cortical radial artery intima/media morphology Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents. 2021-06-23T22:04:04Z Renal blood flow originates at the hilum of the kidney through the renal artery. From the segmental artery to the interlobar artery, blood arrives parallel to the corticomedullary junction in the arcuate artery. This gives rise to the interlobular arteries that radiate toward the surface. Afferent arterioles branch off which ultimately leads into the glomerulus of Bowman's capsule. From here, efferent arterioles begin to form the venous system and subdivide into another set of capillaries known as the peritubular capillaries. Blood then leaves the kidney and enters the venous circulation. However, efferent arterioles that are located above the corticomedullary border travel downward into the medulla. They further divide into vasa recta which surround the Loop of Henle. Abnormal renal arteriole morphology Abnormal structural characteristics of the interior space (lumen) of renal arterioles. 2021-06-23T22:09:47Z Abnormal renal arteriole lumen morphology Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-23T22:11:23Z Cholesterol emboli within the arteriolar lumen Renal arteriolar lumen cholesterol emboli Any structural anomaly located in the inner or middle layer of the arterioles of the kidney. 2021-06-23T22:13:30Z Abnormal renal arteriole intima/media morphology Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney. 2021-06-23T22:15:03Z Renal arteriolar lumen organized thrombi Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney. 2021-06-23T22:16:17Z Renal arteriolar intraluminal thrombi Any structural anomaly of the lining (endothelium) of the arterioles of the kidney. 2021-06-23T22:17:46Z Abnormal renal arteriole endothelium morphology Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney. 2021-06-23T22:21:46Z Abnormalities of the arcuate arterial lumen Abnormal arcuate artery lumen morphology Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-23T22:23:31Z Cholesterol emboli within arcuate arterial lumen Arcuate artery lumen cholesterol emboli Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney. 2021-06-23T22:25:15Z Intraluminal thrombi within arcuate arterial lumen Arcuate artery intraluminal thrombi Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney. 2021-06-23T22:26:16Z Organised thrombi within arcuate arterial lumen Organized thrombi within arcuate arterial lumen Arcuate artery lumen organized thrombi Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. 2021-06-23T22:28:09Z Amyloidosis within renal arteriolar intima/media Renal arteriole intima/media amyloidosis Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney. 2021-06-23T22:31:30Z Abnormal arcuate artery endothelium morphology Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling. 2021-06-23T22:35:58Z Endotheliosis within arcuate arteries Arcuate artery endotheliosis Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney. 2021-06-23T22:37:34Z Endoarterial hypercellularity within arcuate artery Arcuate artery endoarterial hypercellularity Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis. 2021-06-23T22:43:38Z Renal arteriole intima/media hyalinosis Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina. 2021-06-23T22:47:08Z Arteriosclerosis within arcuate arterial intima/media Arcuate artery intima/media arteriosclerosis Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural. 2021-06-23T22:50:38Z Renal intimal/medial arteriolitis Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina. 2021-06-23T22:52:55Z Renal arteriole intima/media arteriolosclerosis Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. 2021-06-23T22:55:09Z Renal arteriole medial atrophy Increased thickness of middle layer of the arcuate veins of the kidney. 2021-06-23T23:00:18Z Medial hypertrophy within arcuate veins Arcuate vein medial hypertrophy Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. 2021-06-23T23:01:44Z Medial atrophy within arcuate veins Arcuate vein medial atrophy Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. 2021-06-23T23:07:07Z Interlobular artery medial hypertrophy Medial hypertrophy within interlobular arteries Cortical radial artery medial hypertrophy Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. 2021-06-23T23:09:41Z Interlobular artery medial atrophy Medial atrophy within interlobular arteries Cortical radial artery medial atrophy Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney. 2021-06-23T23:12:15Z Arteritis within interlobular arterial intima/media Interlobular artery medial/intimal arteriitis Cortical radial artery medial/intimal arteriitis Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. 2021-06-23T23:14:47Z Amyloidosis within arcuate arterial intima/media Arcuate artery intima/media amyloidosis Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. 2021-06-23T23:16:39Z Arcuate artery intimal mucoid edema Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. 2021-06-23T23:19:47Z Medial/intimal arcuate venosclerosis Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. 2021-06-23T23:29:43Z HP:0033919 Medial/intimal arcuate venulitis Venulitis within arcuate vein intima/media Arcuate intimal/medial venulitis Increased thickness of middle layer of the arterioles of the kidney. 2021-06-23T23:31:33Z Medial hypertrophy within arterioles Renal arteriole medial hypertrophy Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney. 2021-06-24T00:55:23Z Accumulated storage material within arteriolar intima/media Renal arteriole intima/media storage material accumulation Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. 2021-06-24T00:57:59Z Endoarterial hypercellularity within arterioles Renal arteriole endoarterial hypercellularity A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). 2021-06-24T01:00:27Z Renal arteriole leukocytic endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. 2021-06-24T01:02:44Z Endoarterial hypercellularity within arterioles consisting of foam cells Renal arteriole foam cell endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. 2021-06-24T01:04:25Z Endoarterial hypercellularity within arterioles consisting of neutrophils Renal arteriole neutrophil endoarterial hypercellularity A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen. 2021-06-24T01:06:07Z Endoarterial hypercellularity within arterioles consisting of lymphocytes Renal arteriole lymphocyte endoarterial hypercellularity Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. 2021-06-24T01:08:40Z Multilamellation (onion skinning) within renal arteriole intima/media Renal arteriole intima/media multilamellation Renal arteriole intimal/medial onion skinning Renal arteriole intimal/medial multilamellation Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). 2021-06-24T01:12:13Z Endoarterial hypercellularity within arcuate artery consisting of leukocytes Arcuate artery endoarterial leukocyte hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. 2021-06-24T01:13:37Z Endoarterial hypercellularity within arcuate artery consisting of foam cells Arcuate artery endoarterial foam cell hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. 2021-06-24T01:14:58Z Endoarterial hypercellularity within arcuate artery consisting of neutrophils Arcuate artery endoarterial neutrophil hypercellularity A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. 2021-06-24T01:16:06Z Endoarterial hypercellularity within arcuate artery consisting of lymphocytes Arcuate artery endoarterial lymphocyte hypercellularity Death of tissue in the inner or middle layer of the arcuate artery of the kidney. 2021-06-24T01:19:00Z Arcuate artery intima/media necrosis A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. 2021-06-24T01:20:42Z Coagulative necrosis within interlobular arterial intima/media Arcuate artery intima/media coagulative necrosis A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. 2021-06-24T01:22:54Z Liquefactive necrosis of the arcuate artery intima/media Arcuate artery intima/media liquefactive necrosis Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. 2021-06-24T01:25:46Z Multilamellation (onion skinning) within arteriolar intima/media Renal arteriole intima/media onion skinning Arcuate vein intimal/medial storage material accumulation Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. 2021-06-24T01:36:18Z Necrosis within interlobular arterial intima/media Cortical radial artery intima/media necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. 2021-06-24T01:39:31Z Liquefactive necrosis within interlobular arterial intima/media Cortical radial artery intima/media liquefactive necrosis A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. 2021-06-24T01:41:26Z Cortical radial artery intima/media coagulative necrosis Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. 2021-06-24T01:43:41Z Renal arteriole intima/media necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. 2021-06-24T01:44:32Z Liquefactive necrosis of the renal arteriolar intima/media Renal arteriole intima/media liquefactive necrosis A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. 2021-06-24T01:45:29Z Renal arteriole intima/media coagulative necrosis A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. 2021-06-24T01:48:02Z Granulomatous arteriolitis within arteriolar intima/media Granulomatous arteriolitis of the arteriolar intima/media Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney. 2021-06-24T01:51:19Z Necrosis within arcuate vein intima/media Arcuate vein medial/intimal necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. 2021-06-24T01:52:16Z Coagulative necrosis within arcuate vein intima/media Arcuate vein medial/intimal coagulative necrosis A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. 2021-06-24T01:53:42Z Liquefactive necrosis within arcuate vein intima/media Arcuate vein medial/intimal liquefactive necrosis A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. 2021-06-24T01:56:15Z Arcuate intimal/medial granulomatous venulitis Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. 2021-06-24T01:57:38Z Arcuate vein intima/media crystal accumulation Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney. 2021-06-24T01:59:04Z Accumulated crystals within renal arteriolar intima/media Renal arteriole intima/media crystal accumulation Inflammation of the inner or middle layer of the arcuate arteries of the kidney. 2021-06-24T12:14:55Z Arteritis within arcuate arterial intima/media Arcuate artery intima/media arteriitis A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. 2021-06-24T12:16:22Z Granulomatous arteritis within arcuate arterial intima/media Arcuate artery intima/media granulomatous arteriitis Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. 2021-06-24T12:18:01Z Intraluminal thrombi within interlobular arterial lumen Cortical radial artery intraluminal thrombi Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. 2021-06-24T12:19:35Z Organised thrombi within interlobular arterial lumen Organized thrombi within interlobular arterial lumen Cortical radial artery intraluminal organized thrombi Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. 2021-06-24T12:21:16Z Abnormalities of the interlobular arterial endothelium Abnormal cortical radial artery endothelium morphology Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. 2021-06-24T12:24:50Z Endotheliosis within interlobular arteries Cortical radial artery endotheliosis Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. 2021-06-24T12:26:44Z Endoarterial hypercellularity within interlobular artery Cortical radial artery hypercellularity A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). 2021-06-24T12:28:14Z Endoarterial hypercellularity within interlobular artery consisting of leukocytes Cortical radial artery leukocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. 2021-06-24T12:29:21Z Endoarterial hypercellularity within interlobular artery consisting of lymphocytes Cortical radial artery lymphocyte hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries. 2021-06-24T12:30:32Z Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils Cortical radial artery neutrophil hypercellularity A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. 2021-06-24T12:31:30Z Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells Cortical radial artery foam cell hypercellularity Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. 2021-06-24T12:33:40Z Arteriosclerosis within interlobular arterial intima/media Cortical radial artery intima/media arteriosclerosis Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. 2021-06-24T12:35:18Z Intimal mucoid edema within interlobular arterial intima/media Intimal mucoid oedema within interlobular arterial intima/media Cortical radial artery intimal mucoid edema Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. 2021-06-24T12:38:03Z Cortical radial artery intima/media onion skinning Multilamellation (onion skinning) within interlobular arterial intima/media Cortical radial artery intima/media multilamellation A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. 2021-06-24T12:39:37Z Cortical radial artery medial/intimal granulomatous arteriitis Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. 2021-06-24T12:45:15Z Abnormal interlobular vein intima/media morphology Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. 2021-06-24T12:46:18Z Venosclerosis within interlobular vein intima/media Interlobular intima/media venosclerosis Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. 2021-06-24T12:47:37Z Intimal mucoid edema within interlobular veins Intimal mucoid oedema within interlobular veins Interlobular vein intimal mucoid edema Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy 2021-06-24T12:49:34Z Amyloidosis within interlobular vein intima/media Interlobular vein intima/media amyloidosis Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. 2021-06-24T12:51:02Z Venulitis within interlobular vein intima/media Interlobular vein intima/media venulitis A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. 2021-06-24T12:52:16Z Granulomatous venulitis within interlobular vein intima/media Interlobular vein intima/media granulomatous venulitis Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. 2021-06-24T12:53:42Z Necrosis within interlobular vein intima/media Interlobular vein intima/media necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. 2021-06-24T12:54:39Z Liquefactive necrosis within interlobular vein intima/media Interlobular vein intima/media liquefactive necrosis A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. 2021-06-24T12:56:00Z Interlobular vein intima/media coagulative necrosis Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. 2021-06-24T12:57:16Z Medial atrophy within interlobular veins Interlobular vein medial atrophy Increased thickness of middle layer of the interlobular veins of the kidney. 2021-06-24T12:58:30Z Medial hypertrophy within interlobular veins Interlobular vein medial hypertrophy Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. 2021-06-24T14:07:35Z Interlobular vein intima/media onion skinning Multilamellation (onion skinning) within interlobular vein intima/media Interlobular vein intima/media multilamellation Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. 2021-11-27T19:01:00Z Fetal anomaly Any structural anomaly of the fetus. 2021-11-27T19:03:05Z Structural fetal anomaly Structural foetal anomaly Abnormal fetal morphology A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position). 2022-04-10T14:14:09Z Type A cross fused renal ectopia Inferior crossed fused renal ectopia A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation. 2022-04-10T14:17:46Z S-shaped kidney Type B cross fused renal ectopia See Figure 2b of PMID:23599575. Sigmoid kidney A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly. 2022-04-10T14:23:48Z Type C cross fused renal ectopia Unilateral lump kidney A type of cross fused renal ectopia in which kidneys fuse along their medial borders. 2022-04-10T14:26:06Z Type D cross fused renal ectopia Disc kidney A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney. 2022-04-10T14:28:15Z Tandem kidney Type E cross fused renal ectopia L-shaped kidney A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly. 2022-04-10T14:29:53Z Superior crossed-fused renal ectopia The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output. 2022-04-10T17:38:05Z Diagnosis can be made by magnetic resonance angiography, Doppler ultrasonography, or computed tomography angiography. Renal vein thrombosis An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. 2022-04-10T18:07:18Z Abnormal fetal genitourinary system morphology Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption. 2022-09-04T19:41:41Z Increased low molecular weight protein excretion Urinary proteins are reabsorbed by the renal tubule cells, and increased low molecular weight protein fractional excretion can be a sign of tubular proteinuria. Impaired renal tubular reabsorption of low molecular weight protein Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. 2022-09-04T19:42:47Z Impaired renal tubular reabsorption of glucose Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. 2022-09-04T19:45:17Z Impaired renal tubular reabsorption of sodium Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. 2022-09-04T19:48:58Z Impaired renal tubular reabsorption of phosphate A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. 2022-11-05T14:04:19Z Malignant rhabdoid tumor of the kidney Malignant rhabdoid tumour of the kidney Rhabdoid tumor of the kidney Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. 2023-02-19T21:17:38Z Rhabdoid tumor Concentration or activity of an enzyme is above or below the limits of normal. 2023-03-26T18:12:26Z Abnormal enzyme concentration or activity A benign cystic neoplasm of the kidney. 2023-07-01T19:34:33Z Bbenign multilocular cystic nephroma Multicystic nephroma Multilocular cystic renal tumor Multilocular cystic renal tumour Polycystic nephroblastoma The pathogenesis of cystic nephroma is controversial and there is no generally accepted classification. Cystic nephroma HPO:skoehler SNOMEDCT_US:445144002 UMLS:C0239337 UMLS:C4073131 Abnormal limbs Abnormality of limbs Limb anomaly human_phenotype Dysmelia HP:0040064 Abnormality of limbs HPO:skoehler UMLS:C4022456 Abnormality of limb bone human_phenotype HP:0040068 Abnormality of limb bone A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. HPO:skoehler UMLS:C4021038 Abnormal circulating renin Abnormal plasma renin human_phenotype HP:0040084 Abnormal circulating renin A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. HPO:skoehler UMLS:C4021032 Abnormal serum cobalamin level human_phenotype HP:0040126 Abnormal vitamin B12 level An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. SNOMEDCT_US:271611007 UMLS:C0424688 Decreased head circumference human_phenotype HP:0040195 Although HC measures skull size, it typically also reflects overall brain volume and has been described as a widely used proxy of neural growth and brain size. Brain size outside of normal values is an important risk factor for cognitive and motor delay. Microcephaly at birth has been termed primary microcephaly and that acquired after birth is secondary microcephaly. Decreased head circumference UMLS:C4073150 Abnormal consumption behaviour human_phenotype HP:0040202 Abnormal consumption behavior Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. Renal tubule cyst Renal tubular cyst An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. doelkens 2010-05-28T11:48:50Z HP:0001294 MSH:D009069 SNOMEDCT_US:60342002 UMLS:C0026650 Abnormality of movement Movement disorder Unusual movement human_phenotype HP:0100022 Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy. Abnormality of movement A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. 2010-07-08T10:43:57Z MSH:D012509 NCIT:C9118 SNOMEDCT_US:2424003 SNOMEDCT_US:269469005 SNOMEDCT_US:424413001 SNOMEDCT_US:424952003 UMLS:C1261473 Cancer of connective tissue Malignant connective tissue tumor Malignant connective tissue tumour HP:0100242 A sarcoma (from the Greek sarx meaning flesh) is a general term describing a malignant neoplasm, or cancer, that arises from transformed connective tissue cells such as bone, cartilage and fat cells, which originate from embryonic mesoderm. This is in contrast to carcinomas, which are of epithelial origin (breast, colon, pancreas, and others). However, due to an evolving understanding of tissue origin, the term sarcoma is sometimes applied to tumors now known to arise from epithelial tissue. The term soft tissue sarcoma is used to describe tumors of soft tissue, which includes elements that are in connective tissue, but not derived from it (such as muscles and blood vessels). Sarcoma A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. doelkens 2010-08-10T04:14:42Z HP:0001594 HP:0007426 MSH:D012594 SNOMEDCT_US:403524003 SNOMEDCT_US:89155008 UMLS:C0011644 UMLS:C1274865 Progressive systemic scleroderma Pseudoscleroderma human_phenotype HP:0100324 A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies. Sclerosis of the skin occurs in association with disorders as diverse as dermatomyositis, Werner's syndrome, porphyria, muscle glycogenesis, primary systemic amyloidosis, melorheostosis, and malignancy including the carcinoid syndrome. This term is intended to represent the phenotypic feature scleroderma rather than a particular disease. Scleroderma Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. doelkens 2010-09-16T06:00:43Z UMLS:C0237653 human_phenotype HP:0100326 Immunologic hypersensitivity doelkens 2010-12-17T06:00:43Z MSH:D014806 SNOMEDCT_US:190634004 UMLS:C0042847 Vitamin B12 deficiency human_phenotype HP:0100502 Vitamin B12 deficiency An anomaly in the metabolism of a vitamin. doelkens 2010-12-17T06:17:22Z UMLS:C4022036 Abnormality of vitamin metabolism human_phenotype HP:0100508 Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes. Abnormality of vitamin metabolism doelkens 2010-12-17T06:19:15Z UMLS:C4022035 Abnormality of vitamin D metabolism human_phenotype HP:0100511 Abnormality of vitamin D metabolism A reduced concentration of Vitamin D. doelkens 2010-12-17T06:19:35Z MSH:D014808 SNOMEDCT_US:34713006 UMLS:C0042870 Deficient in vitamin D Vitamin D deficiency human_phenotype HP:0100512 Low levels of vitamin D Absence of urine, clinically classified as below 50ml/day. 2010-12-20T10:41:00Z MSH:D001002 SNOMEDCT_US:2472002 UMLS:C0003460 Absent urine output HP:0100519 Anuria Low output of urine, clinically classified as an output below 300-500ml/day. 2010-12-20T10:42:40Z MSH:D009846 SNOMEDCT_US:718403007 SNOMEDCT_US:83128009 UMLS:C0028961 HP:0100520 The decreased output of urine may be a sign of dehydration, renal failure, hypovolemic shock, multiple organ dysfunction syndrome, or urinary obstruction/urinary retention. Oliguria An abnormality of phosphate homeostasis or concentration in the body. doelkens 2010-12-20T11:58:32Z UMLS:C4022032 Abnormality of phosphate homeostasis human_phenotype HP:0100529 Abnormal blood phosphate concentration Inflammation of the eye, parts of the eye or the periorbital region. doelkens 2010-12-20T03:53:42Z HP:0007891 UMLS:C4020969 Inflammatory abnormality of the eye Ocular inflammation human_phenotype HP:0100533 Inflammatory abnormality of the eye An abnormal site of the kidney. 2010-12-20T06:43:50Z UMLS:C4020968 Abnormal localisation of kidneys HP:0100542 Abnormal localization of kidney Abnormality in the process of thought including the ability to process information. doelkens 2010-12-20T06:50:32Z HP:0002128 HP:0002129 HP:0002302 HP:0002337 HP:0002441 HP:0006972 HP:0006998 HP:0007211 MSH:D060825 SNOMEDCT_US:386806002 UMLS:C0338656 UMLS:C0683322 Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Cognitive impairment Intellectual impairment Mental impairment human_phenotype HP:0100543 Cognitive impairment Narrowing or constriction of the inner surface (lumen) of an artery. doelkens 2010-12-21T01:30:07Z SNOMEDCT_US:68109007 UMLS:C0038449 Narrowing of an artery human_phenotype HP:0100545 Arterial stenosis An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. doelkens 2010-12-21T02:12:53Z UMLS:C4020967 Abnormal shape of forebrain Abnormality of the forebrain human_phenotype HP:0100547 Abnormality of forebrain morphology An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. 2010-12-27T02:44:04Z UMLS:C4022019 Caliceal dilatation Caliectasis Megacalicosis HP:0100581 Dilatation of renal calices The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. 2010-12-28T10:23:07Z UMLS:C4020705 UMLS:C4022013 Glomerulocystic kidney disease HP:0100611 Glomerular cysts, defined as Bowman space dilatation greater than 2 to 3 times normal size, are found in disorders of diverse etiology and with a spectrum of clinical manifestations. The term glomerulocystic kidney refers to a kidney with greater than 5% cystic glomeruli. Multiple glomerular cysts Aggression towards oneself. doelkens 2011-05-16T06:47:54Z MSH:D016728 SNOMEDCT_US:248062006 UMLS:C0085271 Autoagression Self injury Self-harm Self-injurious behavior Self-injurious behaviour human_phenotype Self-injurious behaviors HP:0100716 Self-injurious behavior An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. doelkens 2011-06-07T10:40:36Z HP:0003012 MSH:D008206 SNOMEDCT_US:111590001 SNOMEDCT_US:234087005 SNOMEDCT_US:3305006 SNOMEDCT_US:362971004 UMLS:C0024228 UMLS:C4021976 human_phenotype Lymphatic disease HP:0100763 Abnormality of the lymphatic system The presence of hypertension related to stenosis of the renal artery. 2011-06-09T04:48:35Z HP:0008741 MSH:D006978 SNOMEDCT_US:123799005 UMLS:C0020545 Hypertension due to renal artery hyperplasia HP:0100817 Renal artery stenosis can lead to hypertension and chronic kidney disease (due to chronic renal ischemia). The hypertension is caused by activation of the renin-angiotensin-aldosterone system. Renovascular hypertension Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. 2011-06-09T04:59:55Z HP:0008636 SNOMEDCT_US:197679002 UMLS:C0268731 Diseased glomeruli HP:0100820 Glomerulopathy An abnormality of emotional behaviour. doelkens 2011-06-23T11:07:13Z UMLS:C4020949 Abnormal emotion/affect behaviour human_phenotype HP:0100851 Abnormal emotion/affect behavior Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. 2011-12-01T02:29:09Z SNOMEDCT_US:433036004 UMLS:C2315541 Caliceal diverticulum Pelvic diverticulum Renal pelvic diverticulum HP:0100877 Renal diverticulum Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. 2011-12-01T02:41:34Z SNOMEDCT_US:405933007 UMLS:C1320468 HP:0100880 Though NR are best known as precursors of Wilms tumor (WT), many alternative fates are observed, and most rests are destined for eventual atresia. Nephroblastomatosis refers to the presence of multifocal or diffuse nephrogenic rests. Nephrogenic rest Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. 2011-12-01T02:44:52Z MSH:D018201 UMLS:C1332965 HP:0100881 Congenital mesoblastic nephroma is more common in males. Congenital mesoblastic nephroma Any structural abnormality of the medulla of the kidney. doelkens 2011-12-12T10:02:15Z HP:0005582 UMLS:C4021911 Abnormality of the renal medulla human_phenotype HP:0100957 The renal pyramids of the adult kidney resemble a cone with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. The adult renal medulla is made up of 10-18 pyramids. A pyramid consists of the medullary collecting ducts, loops of Henle, vasa recta (straight capillaries) and the interstitium. The main function of the medulla is to regulate concentration of the urine. The urine flows from the collecting ducts into the renal calyces and pelvis. Abnormal renal medulla morphology Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. 2017-09-20T00:22:53Z ORCID:0000-0001-5208-3432 Fyler:4447 human_phenotype HP:0410042 Abnormal liver morphology Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. 2018-11-01T15:27:45Z http://orcid.org/0000-0001-5208-3432 Onset before adulthood Paediatric onset human_phenotype HP:0410280 Pediatric onset Decreased renal tubular reabsorption of bicarbonate. 2021-04-29T17:27:57Z Impaired renal tubular reabsorption of bicarbonate A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space. Hygroma renale Peripelvic lymphangiectasia Renal lymphangiomatosis Renal lymphangiectasia Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterised by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney. Renal vasculitis Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex. Abnormal proximal convoluted tubule morphology Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location. See Figure 2 of PMID:22034641 and Figure 11 of PMID:30599104. Sonographic renal salt and pepper pattern Accumulation of fibronectin in the glomerulus. Fibronectin glomerulopathy (FNG) is characterized by extensive deposition of fibronectin in the glomeruli, especially in the mesangial and subendothelial regions. Glomerular fibronectin deposits Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells. Renal tubular karyomegaly measurement unit label Examples of measurement unit labels are liters, inches, weight per volume. A measurement unit label is as a label that is part of a scalar measurement datum and denotes a unit of measure. 2009-03-16: provenance: a term measurement unit was proposed for OBI (OBI_0000176) , edited by Chris Stoeckert and Cristian Cocos, and subsequently moved to IAO where the objective for which the original term was defined was satisfied with the definition of this, different, term. 2009-03-16: review of this term done during during the OBI workshop winter 2009 and the current definition was considered acceptable for use in OBI. If there is a need to modify this definition please notify OBI. PERSON: Alan Ruttenberg PERSON: Melanie Courtot measurement unit label objective specification In the protocol of a ChIP assay the objective specification says to identify protein and DNA interaction. A directive information entity that describes an intended process endpoint. When part of a plan specification the concretization is realized in a planned process in which the bearer tries to effect the world so that the process endpoint is achieved. 2009-03-16: original definition when imported from OBI read: "objective is an non realizable information entity which can serve as that proper part of a plan towards which the realization of the plan is directed." 2014-03-31: In the example of usage ("In the protocol of a ChIP assay the objective specification says to identify protein and DNA interaction") there is a protocol which is the ChIP assay protocol. In addition to being concretized on paper, the protocol can be concretized as a realizable entity, such as a plan that inheres in a person. The objective specification is the part that says that some protein and DNA interactions are identified. This is a specification of a process endpoint: the boundary in the process before which they are not identified and after which they are. During the realization of the plan, the goal is to get to the point of having the interactions, and participants in the realization of the plan try to do that. Answers the question, why did you do this experiment? PERSON: Alan Ruttenberg PERSON: Barry Smith PERSON: Bjoern Peters PERSON: Jennifer Fostel goal specification OBI Plan and Planned Process/Roles Branch OBI_0000217 objective specification Pour the contents of flask 1 into flask 2 A directive information entity that describes an action the bearer will take. Alan Ruttenberg OBI Plan and Planned Process branch action specification datum label A label is a symbol that is part of some other datum and is used to either partially define the denotation of that datum or to provide a means for identifying the datum as a member of the set of data with the same label http://www.golovchenko.org/cgi-bin/wnsearch?q=label#4n GROUP: IAO 9/22/11 BP: changed the rdfs:label for this class from 'label' to 'datum label' to convey that this class is not intended to cover all kinds of labels (stickers, radiolabels, etc.), and not even all kind of textual labels, but rather the kind of labels occuring in a datum. datum label model number A model number is an information content entity specifically borne by catalogs, design specifications, advertising materials, inventory systems and similar that is about manufactured objects of the same class. The model number is an alternative term for the class. The manufactered objects may or may not also bear the model number. Model numbers can be encoded in a variety of other information objects, such as bar codes, numerals, or patterns of dots. manufactered items may have more than one model number, sometimes by rebranding, or because companies are sold and the products issued new model numbers Person: Alan Ruttenberg model number data item Data items include counts of things, analyte concentrations, and statistical summaries. An information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements. a data item is an information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements. 2/2/2009 Alan and Bjoern discussing FACS run output data. This is a data item because it is about the cell population. Each element records an event and is typically further composed a set of measurment data items that record the fluorescent intensity stimulated by one of the lasers. 2009-03-16: data item deliberatly ambiguous: we merged data set and datum to be one entity, not knowing how to define singular versus plural. So data item is more general than datum. 2009-03-16: removed datum as alternative term as datum specifically refers to singular form, and is thus not an exact synonym. 2014-03-31: See discussion at http://odontomachus.wordpress.com/2014/03/30/aboutness-objects-propositions/ JAR: datum -- well, this will be very tricky to define, but maybe some information-like stuff that might be put into a computer and that is meant, by someone, to denote and/or to be interpreted by some process... I would include lists, tables, sentences... I think I might defer to Barry, or to Brian Cantwell Smith JAR: A data item is an approximately justified approximately true approximate belief PERSON: Alan Ruttenberg PERSON: Chris Stoeckert PERSON: Jonathan Rees data data item symbol a serial number such as "12324X" a stop sign a written proper name such as "OBI" An information content entity that is a mark(s) or character(s) used as a conventional representation of another entity. 20091104, MC: this needs work and will most probably change 2014-03-31: We would like to have a deeper analysis of 'mark' and 'sign' in the future (see https://code.google.com/p/information-artifact-ontology/issues/detail?id=154). 2014-03-31: We would like to have a deeper analysis of 'mark' and 'sign' in the future (see https://github.com/information-artifact-ontology/IAO/issues/154). PERSON: James A. Overton PERSON: Jonathan Rees based on Oxford English Dictionary symbol numeral A symbol that denotes a number. PERSON: Jonathan Rees numeral information content entity Examples of information content entites include journal articles, data, graphical layouts, and graphs. A generically dependent continuant that is about some thing. 2014-03-10: The use of "thing" is intended to be general enough to include universals and configurations (see https://groups.google.com/d/msg/information-ontology/GBxvYZCk1oc/-L6B5fSBBTQJ). information_content_entity 'is_encoded_in' some digital_entity in obi before split (040907). information_content_entity 'is_encoded_in' some physical_document in obi before split (040907). Previous. An information content entity is a non-realizable information entity that 'is encoded in' some digital or physical entity. PERSON: Chris Stoeckert OBI_0000142 information content entity information content entity integer numeral a numeral that denotes an integer PERSON: Jonathan Rees integer numeral 1 1 10 feet. 3 ml. a scalar measurement datum is a measurement datum that is composed of two parts, numerals and a unit label. 2009-03-16: we decided to keep datum singular in scalar measurement datum, as in this case we explicitly refer to the singular form Would write this as: has_part some 'measurement unit label' and has_part some numeral and has_part exactly 2, except for the fact that this won't let us take advantage of OWL reasoning over the numbers. Instead use has measurment value property to represent the same. Use has measurement unit label (subproperty of has_part) so we can easily say that there is only one of them. PERSON: Alan Ruttenberg PERSON: Melanie Courtot scalar measurement datum An information content entity whose concretizations indicate to their bearer how to realize them in a process. 2009-03-16: provenance: a term realizable information entity was proposed for OBI (OBI_0000337) , edited by the PlanAndPlannedProcess branch. Original definition was "is the specification of a process that can be concretized and realized by an actor" with alternative term "instruction".It has been subsequently moved to IAO where the objective for which the original term was defined was satisfied with the definitionof this, different, term. 2013-05-30 Alan Ruttenberg: What differentiates a directive information entity from an information concretization is that it can have concretizations that are either qualities or realizable entities. The concretizations that are realizable entities are created when an individual chooses to take up the direction, i.e. has the intention to (try to) realize it. 8/6/2009 Alan Ruttenberg: Changed label from "information entity about a realizable" after discussions at ICBO Werner pushed back on calling it realizable information entity as it isn't realizable. However this name isn't right either. An example would be a recipe. The realizable entity would be a plan, but the information entity isn't about the plan, it, once concretized, *is* the plan. -Alan PERSON: Alan Ruttenberg PERSON: Bjoern Peters directive information entity dot plot Dot plot of SSC-H and FSC-H. A dot plot is a report graph which is a graphical representation of data where each data point is represented by a single dot placed on coordinates corresponding to data point values in particular dimensions. person:Allyson Lister person:Chris Stoeckert OBI_0000123 group:OBI dot plot graph A diagram that presents one or more tuples of information by mapping those tuples in to a two dimensional space in a non arbitrary way. PERSON: Lawrence Hunter person:Alan Ruttenberg person:Allyson Lister OBI_0000240 group:OBI graph contour plot Contour plot of SSC-H, FSC-H, and FL1-H. generically_dependent_continuants person:Allyson Lister person:Chris Stoeckert OBI_0000246 group:Flow Cytometry community contour plot curation status specification The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. Better to represent curation as a process with parts and then relate labels to that process (in IAO meeting) PERSON:Bill Bug GROUP:OBI:<http://purl.obolibrary.org/obo/obi> OBI_0000266 curation status specification density plot Density plot of SSC-H and FSC-H. A density plot is a report graph which is a graphical representation of data where the tint of a particular pixel corresponds to some kind of function corresponding the the amount of data points relativelly with their distance from the the pixel. person:Allyson Lister person:Chris Stoeckert OBI_0000179 group:Flow Cytometry community density plot data set Intensity values in a CEL file or from multiple CEL files comprise a data set (as opposed to the CEL files themselves). A data item that is an aggregate of other data items of the same type that have something in common. Averages and distributions can be determined for data sets. 2009/10/23 Alan Ruttenberg. The intention is that this term represent collections of like data. So this isn't for, e.g. the whole contents of a cel file, which includes parameters, metadata etc. This is more like java arrays of a certain rather specific type 2014-05-05: Data sets are aggregates and thus must include two or more data items. We have chosen not to add logical axioms to make this restriction. person:Allyson Lister person:Chris Stoeckert OBI_0000042 group:OBI data set image An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface. person:Alan Ruttenberg person:Allyson person:Chris Stoeckert OBI_0000030 group:OBI image data about an ontology part Data about an ontology part is a data item about a part of an ontology, for example a term data about an ontology part is a data item about a part of an ontology, for example a term Person:Alan Ruttenberg Person:Alan Ruttenberg data about an ontology part plan specification PMID: 18323827.Nat Med. 2008 Mar;14(3):226.New plan proposed to help resolve conflicting medical advice. A directive information entity with action specifications and objective specifications as parts that, when concretized, is realized in a process in which the bearer tries to achieve the objectives by taking the actions specified. 2009-03-16: provenance: a term a plan was proposed for OBI (OBI_0000344) , edited by the PlanAndPlannedProcess branch. Original definition was " a plan is a specification of a process that is realized by an actor to achieve the objective specified as part of the plan". It has been subsequently moved to IAO where the objective for which the original term was defined was satisfied with the definitionof this, different, term. 2014-03-31: A plan specification can have other parts, such as conditional specifications. Alternative previous definition: a plan is a set of instructions that specify how an objective should be achieved Alan Ruttenberg OBI Plan and Planned Process branch OBI_0000344 2/3/2009 Comment from OBI review. Action specification not well enough specified. Conditional specification not well enough specified. Question whether all plan specifications have objective specifications. Request that IAO either clarify these or change definitions not to use them plan specification measurement datum Examples of measurement data are the recoding of the weight of a mouse as {40,mass,"grams"}, the recording of an observation of the behavior of the mouse {,process,"agitated"}, the recording of the expression level of a gene as measured through the process of microarray experiment {3.4,luminosity,}. A measurement datum is an information content entity that is a recording of the output of a measurement such as produced by a device. 2/2/2009 is_specified_output of some assay? person:Chris Stoeckert OBI_0000305 group:OBI measurement datum version number A version number is an information content entity which is a sequence of characters borne by part of each of a class of manufactured products or its packaging and indicates its order within a set of other products having the same name. Note: we feel that at the moment we are happy with a general version number, and that we will subclass as needed in the future. For example, see 7. genome sequence version GROUP: IAO version number serial number A serial number is an information content entity which is a unique sequence of characters borne by part of manufactured product or its packaging that is assigned to each individual in some class of products, and so can serve as a way to identify an individual product within the class. Serial numbers can be encoded in a variety of other information objects, such as bar codes, numerals, or patterns of dots. Note: during the call there was some confusion between serial number and model number. We agreed that it would be very helpful for all those terms to have example of usages - please add if you have any :-) GROUP: IAO serial number lot number A lot number is an information content entity which is an identical sequence of character borne by part of manufactured product or its packaging for each instances of a product class in a discrete batch of an item. Lot numbers are usually assigned to each separate production run of an item. Manufacturing as a lot might be due to a variety of reasons, for example, a single process during which many individuals are made from the same portion of source material. Lot numbers can be encoded in a pattern of other information objects, such as bar codes, numerals, or patterns of dots. GROUP: IAO batch number lot number histogram A histogram is a report graph which is a statistical description of a distribution in terms of occurrence frequencies of different event classes. PERSON:Chris Stoeckert PERSON:James Malone PERSON:Melanie Courtot GROUP:OBI histogram heatmap A heatmap is a report graph which is a graphical representation of data where the values taken by a variable(s) are shown as colors in a two-dimensional map. PERSON:Chris Stoeckert PERSON:James Malone PERSON:Melanie Courtot GROUP:OBI heatmap Venn diagram A Venn diagram is a report graph showing all hypothetically possible logical relations between a finite collection of sets. PERSON:Chris Stoeckert PERSON:James Malone PERSON:Melanie Courtot WEB: http://en.wikipedia.org/wiki/Venn_diagram Venn diagram dendrogram Dendrograms are often used in computational biology to illustrate the clustering of genes. A dendrogram is a report graph which is a tree diagram frequently used to illustrate the arrangement of the clusters produced by a clustering algorithm. PERSON:Chris Stoeckert PERSON:James Malone PERSON:Melanie Courtot WEB: http://en.wikipedia.org/wiki/Dendrogram dendrogram scatter plot Comparison of gene expression values in two samples can be displayed in a scatter plot A scatterplot is a graph which uses Cartesian coordinates to display values for two variables for a set of data. The data is displayed as a collection of points, each having the value of one variable determining the position on the horizontal axis and the value of the other variable determining the position on the vertical axis. PERSON:Chris Stoeckert PERSON:James Malone PERSON:Melanie Courtot scattergraph WEB: http://en.wikipedia.org/wiki/Scatterplot scatter plot A photograph is created by projecting an image onto a photosensitive surface such as a chemically treated plate or film, CCD receptor, etc. PERSON:Alan Ruttenberg PERSON:Joanne Luciano PERSON:Melanie Courtot WEB: http://en.wiktionary.org/wiki/photograph photograph textual entity Words, sentences, paragraphs, and the written (non-figure) parts of publications are all textual entities A textual entity is a part of a manifestation (FRBR sense), a generically dependent continuant whose concretizations are patterns of glyphs intended to be interpreted as words, formulas, etc. AR, (IAO call 2009-09-01): a document as a whole is not typically a textual entity, because it has pictures in it - rather there are parts of it that are textual entities. Examples: The title, paragraph 2 sentence 7, etc. MC, 2009-09-14 (following IAO call 2009-09-01): textual entities live at the FRBR (http://en.wikipedia.org/wiki/Functional_Requirements_for_Bibliographic_Records) manifestation level. Everything is significant: line break, pdf and html versions of same document are different textual entities. PERSON: Lawrence Hunter text textual entity citation Verspoor, K., Cohen, KB., Hunter, L. Textual characteristics of traditional and Open Access scientific journals are similar, BMC Bioinformatics 2009, 10:183. a textual entity intended to identify a particular publication PERSON: Lawrence Hunter citation document title Textual characteristics of traditional and Open Access scientific journals are similar A textual entity that names a document PERSON: Lawrence Hunter document title table | T F --+----- T | T F F | F F A textual entity that contains a two-dimensional arrangement of texts repeated at regular intervals across a spatial range, such that the spatial relationships among the constituent texts expresses propositions PERSON: Lawrence Hunter table figure Any picture, diagram or table An information content entity consisting of a two dimensional arrangement of information content entities such that the arrangement itself is about something. PERSON: Lawrence Hunter figure diagram A molecular structure ribbon cartoon showing helices, turns and sheets and their relations to each other in space. A figure that expresses one or more propositions PERSON: Lawrence Hunter diagram document A journal article, patent application, laboratory notebook, or a book A collection of information content entities intended to be understood together as a whole PERSON: Lawrence Hunter document hypothesis textual entity that fucoidan has a small statistically significant effect on AT3 level but no useful clinical effect as in-vivo anticoagulant, a paraphrase of part of the last paragraph of the discussion section of the paper 'Pilot clinical study to evaluate the anticoagulant activity of fucoidan', by Lowenthal et. al.PMID:19696660 A textual entity that expresses an assertion that is intended to be tested. 2009/09/28 Alan Ruttenberg. Fucoidan-use-case Person:Alan Ruttenberg hypothesis textual entity A scalar measurement datum that is the result of measuring a temporal interval 2009/09/28 Alan Ruttenberg. Fucoidan-use-case Person:Alan Ruttenberg time measurement datum A textual entity that is used as directive to deliver something to a person, or organization 2010-05-24 Alan Ruttenberg. Use label for the string representation. See issue https://github.com/information-artifact-ontology/IAO/issues/59 postal address email address Alan Ruttenberg 1/3/2012 - Provisional id, see issue at https://github.com/information-artifact-ontology/IAO/issues/130&thanks=130&ts=1325636583 Person:Alan Ruttenberg Person:Chris Stoeckart email address Recording the current temperature in a laboratory notebook. Writing a journal article. Updating a patient record in a database. A planned process in which a document is created or added to by including the specified input in it. a planned process in which a document is created or added to by including the specified input in it. 6/11/9: Edited at OBI workshop. We need to be able identify a child form of information artifact which corresponds to something enduring (not brain like). This used to be restricted to physical document or digital entity as the output, but that excludes e.g. an audio cassette tape Bjoern Peters wikipedia http://en.wikipedia.org/wiki/Documenting documenting line graph A line graph is a type of graph created by connecting a series of data points together with a line. PERSON:Chris Stoeckert PERSON:Melanie Courtot line chart GROUP:OBI WEB: http://en.wikipedia.org/wiki/Line_chart line graph A new pubmed ID being created for a journal article, and the associated pubmed record containing information to the journal article. A license plate number registered at the DMV to be belonging to a specific vehicle and owner. Placing a barcode on a product and entering information in a database that this barcode is assigned. A planned process in which a new CRID is created, associated with an entity, and stored in the CRID registry thereby registering it as being associated with some entity 2014-05-05: It is the CRID registry that assigns CRIDs, not the users of the registry. Person:Alan Ruttenberg Person:Bjoern Peters Person:Melanie Courtot assigning a CRID assigning a centrally registered identifier The sentence "The article has Pubmed ID 12345." contains a CRID that has two parts: one part is the CRID symbol, which is '12345'; the other part denotes the CRID registry, which is Pubmed. A symbol that is part of a CRID and that is sufficient to look up a record from the CRID's registry. PERSON: Alan Ruttenberg PERSON: Bill Hogan PERSON: Bjoern Peters PERSON: Melanie Courtot CRID symbol Original proposal from Bjoern, discussions at IAO calls centrally registered identifier symbol Entries in a Column of which the header is "Pubmed ID" PMID:12345 The following URL: "http://www.ncbi.nlm.nih.gov/pubmed/19918065" The following sentence contains a CRID: "The article with Pubmed ID: 19918065". The sentence "The article has Pubmed ID 12345." contains a CRID that has two parts: one part is the CRID symbol, which is '12345'; the other part denotes the CRID registry, which is Pubmed. An information content entity that consists of a CRID symbol and additional information about the CRID registry to which it belongs. An information content entity that consists of a CRID symbol and additional information about which CRID registry it belongs. 2014-05-05: In defining this term we take no position on what the CRID denotes. In particular do not assume it denotes a *record* in the CRID registry (since the registry might not have 'records'). Alan, IAO call 20101124: potentially the CRID denotes the instance it was associated with during creation. Note, IAO call 20101124: URIs are not always CRID, as not centrally registered. We acknowledge that CRID is a subset of a larger identifier class, but this subset fulfills our current needs. OBI PURLs are CRID as they are registered with OCLC. UPCs (Universal Product Codes from AC Nielsen)are not CRID as they are not centrally registered. PERSON: Alan Ruttenberg PERSON: Bill Hogan PERSON: Bjoern Peters PERSON: Melanie Courtot CRID Centrally Registered IDentifier Original proposal from Bjoern, discussions at IAO calls http://purl.obolibrary.org/obo/iao.owl CRID centrally registered identifier PubMed is a CRID registry. It has a dataset of PubMed identifiers associated with journal articles. A CRID registry is a dataset of CRID records, each consisting of a CRID symbol and additional information which was recorded in the dataset through a assigning a centrally registered identifier process. PERSON: Alan Ruttenberg PERSON: Bill Hogan PERSON: Bjoern Peters PERSON: Melanie Courtot CRID registry Original proposal from Bjoern, discussions at IAO calls centrally registered identifier registry written name "Bill Clinton" "The Eiffel Tower" "United States of America" A textual entity that denotes a particular in reality. PERSON: Bill Hogan https://github.com/information-artifact-ontology/IAO/issues/114 The qualifier "written" is to set it apart from spoken names. Also, note the restrictions to particulars. We are not naming universals. We could however, be naming, attributive collections which are particulars, so "All people located in the boundaries of the city of Little Rock, AR on June 18, 2011 at 9:50a CDT" would be a name. written name author information textual entity From Takon. Ann Gen Psychiatry. 2011; 10: 25. (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3204268/): IT [the author] is the lead paediatrician for ADHD services in East Hertfordshire, UK, where she runs a weekly joint ADHD clinic with the Child and Adolescent psychiatrist and works within an ADHD specialist team. IT also sees children with other neurodisability issues who may have comorbid ADHD, where the presentation may be more complex and challenging to manage. IT has vast experience in managing children with complex ADHD. She has 18 years of experience in paediatrics and also has extensive experience in the use of psychopharmacologic agents in managing children with ADHD. A textual entity expression information about an author of a document. This information may include biographical information and may discuss how the authors' professional experiences are relevant to the work described in the document. PERSON: Bill Baumgartner author information textual entity case report textual entity Excerpt from Taglia et al. Acta Myol. 2012 Dec; 31(3): 201–203. (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631801/): The patient is a 50-year-old man. His medical history was not contributory. At the age of 37 years, he complained of persistent fatigue and dyspnoea even for modest efforts and oedema of lower limbs. The patient was examined at the department of internal medicine of the local hospital, and hospitalised with a diagnosis of dilated cardiomyopathy probably consequence of a myocarditis process. Soon after he was transferred to the cardiologic department of the regional hospital, and pharmacologically treated for heart failure and pulmonary hypertension. A textual entity that expresses a detailed account of a portion of the medical history for a specific patient. PERSON: Bill Baumgartner case report textual entity Colonel Klink giving Sergeant Schultz an order, Jake promising Jill to take her to the junior prom A planned process that is carried out by a conscious being or an organization, and is self-generated, directed towards another conscious being or an aggregate of conscious beings, an organization or an aggregate of organizations, and that needs to be perceived. A process that is carried out by a conscious being or an aggregate of conscious beings and is spontaneous, directed towards other conscious beings and aggregates thereof and needs to be perceived. Mathias Brochhausen MB: Regarding the use of the term 'sponteneous' in the definition: The term is used in the following meaning of being self generated. It does not stand in contrast to being planned. social act the claim of a piece of land, the obligation to pay rent to the owner of a rental property Socio-legal generically dependent continuants are generically dependent continuants that come into existence through declarations and are concretized as roles. They differ from information content entities in that they are not about something, but exist as quasi-abstract social entities. Socio-legal generically dependent continuants are not concretized as qualities inhering in independent continuants, but only as realizable entities borne by an organism or an aggregate of organisms. Mathias Brochhausen socio-legal generically dependent continuant my consenting verbally to buy a used TV set for $ 500, Jane Doe's signing of the divorce papers, John Robie's taking of Mrs. Steven's jewels A social act that brings about, transfers or revokes a socio-legal generically dependent continuant or brings about or revokes a role. Declarations do not depend on words spoken or written, but sometimes are merely actions, for instance the signing of a document. Mathias Brochhausen declaration A document that is intended to be the specified input in a document act. It has a plan specification as a part that specifies the intended socio-legal entities that are created through the document (objective specification) and the way in which the document act is to be performed (by signing, by stamping, etc.) (action specification). Mathias Brochhausen document act input document a judge's role of signing a court order, a hospital committee's to sanction conformance to a specific guideline for hospital employees. A role inhering in a human being or an organization or an aggregate of any of the aforementioned that is realized by the bearer being the agent in a declaration. Mathias Brochhausen declaration performer role A document that explains all relevant information to assist a human being in understanding the expectations and requirements of participation in a process, and is an instrument in obtaining consent and, after having obtained consent, is a record that such a consent has occurred. The term definition is adapted from NCIt definition of 'consent form' (C16468) with modification. For instance, whereas the NCIt definition restricted informed consent forms to clinical trials, the present definition does not. Alla Karnovsky, Frank Manion, Yongqun He, Asiyah Yu Lin, Marcy Harris, Elizabeth Eisenhauer, Jonathan Vajda, Cooper Stansbury, J. Neil Otte informed consent document NCIt C16468 See curator note for 'incomplete informed consent form'. C0009797 C16468 informed consent form A social act that is a part of an informed consent process and has output of a signed informed consent form. The signing process leads to a legal obligation. Alla Karnovsky, Frank Manion, Yongqun He, Jihad Obeid, Chris Stoeckert, and Mathias Brochhausen This class is under group discussion as of 03/26/2019. Signing here does not mean that we have to sign with a pen. It may happen in terms of signing a piece of a paper or an electronic form. signing an informed consent form A document act input document that explains all relevant information to assist a human being in understanding the expectations and requirements of participation in a process, and whose purpose is to assist in obtaining consent. J. Neil Otte Note: instances of 'incomplete informed consent form' include both blank informed consent forms that are waiting to be used in a process of informed consent, as well as those that have been left blank by a patient, whether on purpose or in error. Those that have been left blank on purpose have been used in a process of informed consent, where the patient must have reached a decision. incomplete informed consent form A document act input document that has, as part, an incomplete informed consent form, along with some additional parts, such as a signature, stamp, or initials, which serve as a record to an act of consent that had the incomplete informed consent form as a specified input. J. Neil Otte complete informed consent form indicating consent An information content entity that is a handwritten depiction of a name. Jonathan Vajda, Cooper Stansbury, J. Neil Otte. signature A human patient who has the disease of acute kidney injury (AKI). AKI patient A human patient who has the disease of chronic kidney disease (CKD). CKD patient kidney disease biomarker CKD biomarker A biomarker of the acute kidney injury. Lia Papageorge, Oliver He Acute Kidney Injury biomarker https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2742480/ AKI biomarker kidney cell type biomarker A biomarker as an indicator of a kidney cell lineage or cell type. Yingtong Liu, Oliver He https://pubmed.ncbi.nlm.nih.gov/33197228/ kidney cell lineage marker kidney podocyte lineage marker renal corpuscle cell lineage marker kidney parietal epithelial cell lineage marker kidney tubule cell lineage marker kidney proximal tubule cell lineage marker kidney looo of Henle, thin limb cell lineage marker A podocyte marker that indicates the podocytopathy (podocyte injury). An example of such a marker is Ezrin (http://www.antibodybeyond.com/reviews/cell-markers/podocyte-marker.htm). Oliver He, Yingtong Liu http://www.antibodybeyond.com/reviews/cell-markers/podocyte-marker.htm podocytopathy marker A podocyte marker that indicates the DDS (Denys-Drash syndrome) in podocyte. An example of such a marker is VEGF (http://www.antibodybeyond.com/reviews/cell-markers/podocyte-marker.htm). DDS podocyte marker Oliver He, Yingtong Liu http://www.antibodybeyond.com/reviews/cell-markers/podocyte-marker.htm Denys-Drash syndrome podocyte marker A podocyte marker that indicates the podocyte maturity. An example of such a marker is Vimentin (http://www.antibodybeyond.com/reviews/cell-markers/podocyte-marker.htm). Oliver He, Yingtong Liu http://www.antibodybeyond.com/reviews/cell-markers/podocyte-marker.htm podocyte maturation marker Oliver He, Yingtong Liu kidney-associated biomarker A biomarker that is an indicative of a specific biological state or identity associated with kidney https://emedicine.medscape.com/article/1925619-overview https://www.news-medical.net/life-sciences/What-are-Kidney-Biomarkers.aspx kidney biomarker predictive CKD biomarker diagnostic CKD biomarker prognostic CKD biomarker prognostic AKI biomarker diagnostic AKI biomarker predictive AKI biomarker CKD protein biomarker CKD RNA biomarker CKD gene marker urine hEGF kidney podocyte cell lineage gene marker A mental process that creates, modifies or has as participant some cognitive representation. cognitive process GO:0050890, cognition, defined as `The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.' Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process. Note that while there are different modes of consciousness corresponding to the different senses, the whole of conscious experience at any one time is largely experienced as a unity, that is, as a fused whole. Mental processes which are simultaneously ongoing are separable only in fiat, not in essence. consciousness A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. A bodily process which brings into being, sustains or modifies a cognitive representation or a beahvior inducing state. mental process GO:0050890, cognition, defined as `The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.' A dependent continuant which is about a portion of reality. http://www.jbiomedsem.com/content/1/1/10 representation A representation which specifically depends on an anatomical structure in the cognitive system of an organism. http://www.jbiomedsem.com/content/1/1/10 cognitive representation A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language. bodily disposition A mental disposition is a bodily disposition that is realized in a mental process. mental disposition Intentionality is the fundamental quality of conscious mental processes of always having content, of being directed towards, or about something. intentionality A bodily quality is a quality that inheres in some extended organism. bodily quality A mental quality is a bodily quality that inheres in those structures of the extended organism that are essential for mental functioning. mental quality An example of an intentional modality is the capacity to represent objects of intentionality as unfolding in time or being time contingent. A structural capacity that shapes how an object of intentionality is represented for the subject. intentional mode intentional structure intentional modality A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism. DOID:4 EFO:0000408 ICD9:799.9 MESH:D004194 NCIT:C2991 OGMS:0000031 Orphanet:377788 SCTID:64572001 UMLS:C0012634 condition disease disease or disorder disease or disorder, non-neoplastic diseases diseases and disorders disorder disorders medical condition other disease MONDO:0000001 disease or disorder blood platelet disease platelet disorder DC:0000057 DOID:2218 OMIMPS:231200 UMLS:C0005818 bleeding disorder, platelet-type thrombocytopathy MONDO:0000009 inherited bleeding disorder, platelet-type DC:0000341 DOID:0080655 OMIMPS:612286 MONDO:0000079 nephrolithiasis/osteoporosis, hypophosphatemic Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. DC:0000479 GARD:0000884 ICD10:Q30.2 MESH:C535441 Orphanet:2695 UMLS:CN227089 MONDO:0000110 bifid nose A hypercalcemia disease that occurs between 28 days to one year of life.. DC:0000724 MESH:C562999 OMIMPS:143880 SCTID:276645004 hypercalcemia disease of infancy infantile hypercalcemia infantile hypercalcemia disease infantile onset hypercalcemia disease MONDO:0000212 hypercalcemia, infantile ICD10:E83 ICD9:275.8 ICD9:275.9 SCTID:45744005 disease of mineral metabolism disorder of mineral metabolism MONDO:0000226 mineral metabolism disease A disease involving the lower respiratory tract. DOID:0050161 ICD9:478.1 ICD9:478.19 SCTID:128272009 UMLS:C1290325 disease of lower respiratory tract disease or disorder of lower respiratory tract disorder of lower respiratory tract lower respiratory tract disease lower respiratory tract disease or disorder MONDO:0000270 lower respiratory tract disease DOID:0050200 Korean hemorrhagic fever MONDO:0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type DOID:0050201 UMLS:C0242993 nephropathis epidemica nephropathia epidemica MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type DOID:0050338 MONDO:0000314 primary bacterial infectious disease Abnormally high level of phosphate in the blood. DOID:0050459 HP:0002905 MESH:D054559 SCTID:20165001 UMLS:C0085681 hyperphosphatemia MONDO:0000328 hyperphosphatemia (disease) DOID:0050522 Balkan hemorrhagic fever MONDO:0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type DOID:0050567 OMIMPS:119530 SCTID:449790007 UMLS:CN221583 MONDO:0000358 Editor notes: most subtypes are isolated orofacial cleft A tuberculosis that occurs at body sites other than the lung. DOID:0050598 SCTID:423997002 UMLS:C0679362 MONDO:0000368 extrapulmonary tuberculosis An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas. DOID:0050599 ICD9:014.80 SCTID:447330002 UMLS:C0740652 tuberculosis of abdomen MONDO:0000369 abdominal tuberculosis A malignant neoplasm involving the respiratory system DOID:0050615 ICD9:165.8 ICD9:165.9 SCTID:449096009 UMLS:C3164456 cancer of respiratory system malignant neoplasm of respiratory system malignant respiratory system neoplasm respiratory system cancer MONDO:0000376 respiratory system cancer A infiltrating urothelial carcinoma that involves the renal pelvis. DOID:0050620 MONDO:0000381 infiltrating renal pelvis transitional cell carcinoma A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor. DOID:0050622 NCIT:C7617 UMLS:C1332536 benign reproductive system neoplasm reproductive organ benign neoplasm MONDO:0000383 benign reproductive system neoplasm A benign abnormal growth of the cells that comprise the bladder. COHD:201824 DOID:0050623 ICD9:223.3 NCIT:C3618 SCTID:91992005 UMLS:C0154017 benign bladder neoplasm benign bladder tumor benign neoplasm of bladder benign neoplasm of the bladder benign neoplasm of the urinary bladder benign neoplasm of urinary bladder benign tumor of bladder benign tumor of the bladder benign tumor of the urinary bladder benign tumor of urinary bladder benign urinary bladder neoplasm benign urinary bladder tumor urinary bladder benign neoplasm MONDO:0000384 bladder benign neoplasm Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement. cobalamin deficiency hypocobalaminemia DOID:0050731 EFO:0000734 inborn cobalamin metabolic process disorder inborn error of cobalamin metabolic process rare inborn error of cobalamin metabolic process MONDO:0000424 inborn vitamin B12 deficiency (disease) X-linked form of disease. DOID:0050735 ICD9:799.89 MESH:D040181 NCIT:C85865 SCTID:128430005 UMLS:C1138434 UMLS:C2828000 X-linked disease or disorder X-linked hereditary disease X-linked hereditary disorder X-linked inherited disease X-linked inherited disorder disease or disorder, X-linked disease, X-linked X linked genetic diseases X-linked genetic disease X-linked genetic diseases disease, X-linked genetic diseases, X-linked genetic genetic disease, X-linked genetic diseases, X chromosome linked genetic diseases, X linked genetic diseases, X-chromosome linked MONDO:0000425 X-linked disease Autosomal dominant form of disease. DOID:0050736 ICD9:758.5 SCTID:11164009 UMLS:C0265385 autosomal dominant disease or disorder autosomal dominant hereditary disorder autosomal dominant inherited disorder disease or disorder, autosomal dominant disease, autosomal dominant MONDO:0000426 autosomal dominant disease A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. DOID:0050739 ICD9:758.5 SCTID:1899006 UMLS:C0265384 autosomal hereditary disorder autosomal inherited disease autosomal inherited disorder MONDO:0000429 autosomal genetic disease A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. COHD:435242 DOID:0050753 GARD:0012060 ICD9:334.3 MESH:D002524 NCIT:C82341 Orphanet:102002 SCTID:85102008 UMLS:C0087012 ataxia ataxia syndrome spinocerebellar Degeneration spinocerebellar ataxia ataxia, cerebellar ataxias, cerebellar cerebellar Ataxias cerebellar Dysmetrias cerebellar dysmetria rare ataxia MONDO:0000437 In ORDO this is called rare ataxia, we rename as ataxia since all forms are individually rare cerebellar ataxia A disease involving the ocular adnexa. DOID:0050815 ICD10:H00.H06 SCTID:118941004 UMLS:C1290855 disease of ocular adnexa disease or disorder of ocular adnexa disorder of ocular adnexa ocular adnexa disease ocular adnexa disease or disorder MONDO:0000462 eye adnexa disease Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression. DOID:0050816 GARD:0000104 ICD10:N31.8 MESH:C536480 OMIMPS:236730 Orphanet:2704 SCTID:236533008 Ochoa syndrome hydronephrosis with peculiar facial expression hydronephrosis-inverted smile syndrome inverted smile-neurogenic bladder syndrome partial facial palsy with urinary abnormalities urofacial syndrome UFS inverted smile and occult neuropathic bladder urofacial Ochoa's syndrome MONDO:0000463 Ochoa syndrome An impairment of the structure or function of the blood vessels which carry blood away from the heart. DOID:0050828 ICD9:447.8 ICD9:447.9 NCIT:C35317 SCTID:359557001 UMLS:C0852949 arterial disease arterial disorder arteriopathy artery disease artery disease or disorder disease of artery disease or disorder of artery disorder of artery MONDO:0000473 arterial disorder A hardening of the kidney glomerulus caused by scarring of the blood vessels. COHD:261071 DOID:0050851 NCIT:C120888 SCTID:197661001 UMLS:C0178664 glomerular sclerosis MONDO:0000490 glomerulosclerosis A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis. DOID:0050855 EFO:1001517 SCTID:197660000 UMLS:C0151650 MONDO:0000494 renal fibrosis An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis) DOID:0050863 SCTID:733506009 UMLS:C2242711 arteritic aion MONDO:0000498 arteritic anterior ischemic optic neuropathy A intellectual disability that is part of a larger syndrome. DOID:0050888 UMLS:CN225415 syndrome associated with intellectual disability syndromic intellectual disability MONDO:0000508 syndromic intellectual disability Cerebellar ataxia that is transmitted from parent to child. DOID:0050951 GARD:0006614 GARD:0010748 ICD10:G11 MESH:C531684 NCIT:C140268 Orphanet:183518 SCTID:763597000 hereditary cerebellar ataxia rare hereditary ataxia SCA MONDO:0000557 hereditary ataxia https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia A hypersensitivity reaction type II disease that involves the central nervous system. DOID:0060004 central nervous system autoimmune disease central nervous system hypersensitivity reaction type II disease MONDO:0000568 autoimmune disease of central nervous system A hypersensitivity reaction type II disease that involves the endocrine system. DOID:0060005 ICD9:279.49 SCTID:237822008 UMLS:C0342552 endocrine system autoimmune disease endocrine system hypersensitivity reaction type II disease MONDO:0000569 autoimmune disease of endocrine system Anemia, the cause of which is present at birth. NCIT:C35228 SCTID:63565007 UMLS:C0158995 congenital anemia congenital anemia (disease) MONDO:0000577 congenital anemia An autoimmune form of otorhinolaryngologic disease. DOID:0060030 autoimmune otorhinolaryngologic disease autoimmune disease of eyes, ear, nose and throat MONDO:0000587 Editor note: ENT typically excludes eye, but the DOID class includes this autoimmune disease of ear, nose and throat A hypersensitivity reaction type II disease that involves the musculoskeletal system. DOID:0060032 musculoskeletal system autoimmune disease musculoskeletal system hypersensitivity reaction type II disease MONDO:0000589 autoimmune disease of musculoskeletal system A hypersensitivity reaction type II disease that involves the peripheral nervous system. DOID:0060033 peripheral nervous system autoimmune disease peripheral nervous system hypersensitivity reaction type II disease MONDO:0000590 autoimmune disease of peripheral nervous system A cardiomyopathy that is due to abnormalities in heart muscle cells. DOID:0060036 primary cardiomyopathy MONDO:0000591 intrinsic cardiomyopathy A hypersensitivity reaction type II disease that involves the genitourinary system. DOID:0060049 autoimmune disease of genitourinary system genitourinary system autoimmune disease genitourinary system hypersensitivity reaction type II disease MONDO:0000601 autoimmune disease of urogenital tract A hypersensitivity reaction type II disease that involves the blood. DOID:0060050 blood autoimmune disease blood hypersensitivity reaction type II disease MONDO:0000602 autoimmune disease of blood A hypersensitivity reaction type II disease that involves the cardiovascular system. DOID:0060051 cardiovascular system autoimmune disease cardiovascular system hypersensitivity reaction type II disease MONDO:0000603 autoimmune disease of cardiovascular system An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. sensitive sensitivity DOID:0060056 EFO:1002003 NCIT:C3114 SCTID:473010000 allergic reaction hypersensitive hypersensitivity hypersensitivity reaction MONDO:0000605 hypersensitivity reaction disease DOID:0060062 GARD:0000067 MESH:C537696 OMIMPS:162000 SCTID:46785007 UMLS:CN239392 FJHN familial juvenile gouty nephropathy familial juvenile hyperuricemic nephropathy familial nephropathy associated with hyperuricemia familial nephropathy with gout gouty nephropathy, familial juvenile juvenile gout juvenile gouty nephropathy nephropathy, familial, with gout gouty nephropathy, familial MONDO:0000608 familial juvenile hyperuricemic nephropathy A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. DOID:0060071 MONDO:0000611 pre-malignant neoplasm A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma. COHD:136937 DOID:0060089 ICD9:227.8 ICD9:227.9 NCIT:C4621 SCTID:92085000 UMLS:C0347524 benign endocrine gland neoplasm benign endocrine gland tumor benign endocrine neoplasm benign endocrine tumor benign neoplasm of endocrine gland benign neoplasm of the endocrine gland benign tumor of endocrine gland benign tumor of the endocrine gland endocrine gland benign neoplasm endocrine organ benign neoplasm MONDO:0000627 benign endocrine neoplasm A benign neoplasm that involves the musculoskeletal system. DOID:0060099 musculoskeletal system benign neoplasm MONDO:0000636 musculoskeletal system benign neoplasm A malignant neoplasm involving the musculoskeletal system DOID:0060100 cancer of musculoskeletal system malignant musculoskeletal system neoplasm malignant neoplasm of musculoskeletal system musculoskeletal system cancer skeletal system cancer MONDO:0000637 musculoskeletal system cancer A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma. DOID:0060118 MESH:D013896 NCIT:C35742 SCTID:118946009 SCTID:609622007 UMLS:C0039978 UMLS:C3661979 disease of thoracic segment of trunk disease or disorder of thoracic segment of trunk disorder of thoracic segment of trunk disorder of thorax thoracic disease thoracic disorder thoracic segment of trunk disease thoracic segment of trunk disease or disorder MONDO:0000651 thoracic disease A benign neoplasm that involves the integumental system. DOID:0060121 integumental system benign neoplasm MONDO:0000652 integumentary system benign neoplasm A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma. COHD:374882 DOID:0060123 NCIT:C53684 benign connective and soft tissue neoplasm benign connective and soft tissue tumor benign mesenchymal cell neoplasm benign neoplasm of the soft tissue and bone benign tumor of the soft tissue and bone connective and soft tissue neoplasm, benign connective tissue benign neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue MONDO:0000654 benign connective and soft tissue neoplasm An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. disorder of organic acid metabolism organic acid metabolism disorder DOID:0060159 GARD:0009433 ICD9:277.89 NCIT:C101334 Orphanet:289899 UMLS:C1263739 inborn error of organic acid metabolic process inborn organic acid metabolic process disorder rare inborn error of organic acid metabolic process organic acidemia organic aciduria MONDO:0000688 inherited organic acidemia https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine. ICD9:277.2 OMIMPS:278300 SCTID:190919008 MONDO:0000721 xanthinuria DOID:0060388 chromosomal deletion syndrome MONDO:0000761 Editor note: this is used in DOID to encompass typically partial deletions syndrome caused by partial chromosomal deletion An autoimmune form of peripheral neuropathy. DOID:0040087 DOID:0060499 autoimmune peripheral neuropathy MONDO:0000774 Editor note: We do not draw a distinction between between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 autoimmune neuropathy The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. DOID:0060903 ICD9:453.9 MESH:D013927 NCIT:C26891 SCTID:439127006 Clots, blood Thromboses blood Clots blood clot clot, blood thrombosis thrombotic disorder thrombus MONDO:0000831 thrombotic disease A bone disease that results in formation or resorption abnormalities located in bone. DOID:0080005 MONDO:0000833 bone remodeling disease Bone loss due to osteoclastic activity. DOID:0080011 MESH:D001862 MONDO:0000837 bone resorption disease Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. DOID:0080015 EFO:0003915 ICD10:Q00.Q99 ICD9:759.89 ICD9:759.9 MESH:D000013 NCIT:C2849 SCTID:276654001 UMLS:CN232116 SCONG birth defect congenital Abnormality congenital abnormality congenital anatomic Abnormality congenital anatomical Abnormality congenital anomalies of fetus congenital anomaly congenital anomaly or birth defect congenital defect congenital defect/deformity congenital deformity congenital malformation defect/deformity, Congenital defect/deformity, congenital deformity/defect, Congenital physical disorder CM - congenital malformation fetal developmental abnormality fetal malformation foetal malformation MONDO:0000839 congenital abnormality Inflammation of the mucous membranes lining the gastrointestinal tract. COHD:437915 DOID:0080178 ICD9:538 ICD9:558.9 MESH:D052016 NCIT:C3853 SCTID:95518006 UMLS:C0521585 gastrointestinal system mucosa inflammation gastrointestinal system mucosaitis inflammation of gastrointestinal system mucosa mucositis MONDO:0000888 gastrointestinal mucositis A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. DOID:0110146 ICD10:E26.8 OMIM:613090 UMLS:C2751312 BARTS4B Bartter syndrome, type 4B Bartter syndrome, type 4b, digenic neonatal Bartter syndrome type 4B with sensorineural deafness Bartter syndrome, infantile, with sensorineural deafness Bartter syndrome, type 4B, neonatal, with sensorineural deafness MONDO:0000909 Bartter disease type 4B An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa. COHD:198678 DOID:100 ICD10:A00-A09 ICD10:A00.A09 ICD9:001-009.99 ICD9:008.8 SCTID:266071000 UMLS:C0152516 UMLS:C0178238 bacterial enteritis MONDO:0000916 intestinal infectious disease A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. DOID:10124 ICD10:H18.9 ICD9:371.30 ICD9:371.89 ICD9:371.9 MESH:D003316 NCIT:C26731 SCTID:15250008 UMLS:C0010034 cornea disease cornea disease or disorder corneal disease corneal disorder disease of cornea disease or disorder of cornea disorder of cornea MONDO:0000942 corneal disease COHD:442766 DOID:10177 ICD9:403.00 SCTID:65443008 UMLS:C0155593 MONDO:0000959 malignant hypertensive renal disease A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain. DOID:10194 NCIT:C5101 UMLS:C1335744 kidney lipoma lipoma of kidney lipoma of the kidney renal lipoma MONDO:0000968 kidney lipoma A atherosclerosis that involves the aorta. DOID:10230 HP:0012397 ICD10:I70.0 ICD9:440.0 SCTID:81817003 UMLS:C0155733 aorta atherosclerosis aortic atherosclerosis atherosclerosis of aorta MONDO:0000980 aortic atherosclerosis (disease) An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. COHD:30978 DOID:10241 EFO:1001996 GARD:0007756 ICD10:D56 ICD10:D56.9 ICD9:282.4 ICD9:282.40 ICD9:282.49 MESH:D013789 NCIT:C35069 SCTID:40108008 UMLS:C0039730 sickle-cell thalassemia with crisis sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis MONDO:0000984 thalassemia Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy. DOID:10426 GARD:0010280 ICD10:Q76.1 ICD9:756.16 MESH:D007714 NCIT:C98967 OMIMPS:118100 SCTID:5601008 Klippel-Feil Sequence Klippel Feil syndrome Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry autosomal dominant Klippel-Feil syndrome cervical vertebral fusion congenital dystrophia brevicollis congenital synostosis of cervical vertebrae MONDO:0001029 Usage notes: this class includes both isolated forms and forms that are features of other syndromes Klippel-Feil syndrome https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group. DOID:1059 EFO:0003847 GARD:0011963 ICD10:F70.F79 ICD9:319 MESH:D008607 NCIT:C97250 SCTID:91138005 intellectual disabilities mental retardation MONDO:0001071 intellectual disability A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. COHD:314090 DOID:10590 ICD9:642.40 ICD9:642.41 ICD9:642.42 ICD9:642.43 ICD9:642.44 SCTID:41114007 MONDO:0001072 mild pre-eclampsia A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. adult Fanconi Anemia DC:0000148 DOID:1062 GARD:0009120 MESH:D005198 NCIT:C3034 SCTID:40488004 UMLS:C0015624 De toni-Fanconi syndrome De toni-debre-Fanconi syndrome Fanconi syndrome Fanconi's syndrome Fanconi-de toni syndrome Fanconi-de-toni syndrome Lignac-Fanconi syndrome deToni Fanconi syndrome adult Fanconi syndrome congenital Fanconi syndrome infantile nephropathic cystinosis toni-debre-Fanconi syndrome MONDO:0001083 Fanconi renotubular syndrome https://rarediseases.info.nih.gov/diseases/9120/fanconi-syndrome Inflammation of the renal tubules and supporting tissues of the kidney. DOID:1063 ICD10:N12 ICD9:583.89 MESH:D009395 NCIT:C26834 SCTID:28689008 UMLS:C0027707 UMLS:C0041349 Tubulointerstitial nephritis renal tubulo-interstitial disease MONDO:0001085 interstitial nephritis Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries. DOID:1073 EFO:1002039 MESH:D006977 SCTID:28119000 UMLS:C0020544 renovascular hypertension MONDO:0001105 renal hypertension An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. DOID:1074 ICD10:N19 ICD9:404.12 ICD9:404.13 ICD9:586 MESH:D051437 NCIT:C4376 SCTID:42399005 UMLS:C0035078 UMLS:C1565489 failure, renal renal failure renal failure syndrome renal insufficiency MONDO:0001106 kidney failure Persistent pyelonephritis. COHD:4269363 DOID:1076 ICD10:N11 ICD10:N11.9 ICD9:590.0 NCIT:C123216 SCTID:63302006 UMLS:C0085697 pyelonephritis, chronic MONDO:0001110 chronic pyelonephritis Hypertension that presents without an identifiable cause. COHD:320128 DOID:10825 EFO:1002032 ICD10:I10 ICD9:401 ICD9:401.9 MESH:C562386 SCTID:59621000 UMLS:C0085580 idiopathic hypertension primary hypertension MONDO:0001134 essential hypertension A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain. COHD:4043738 DOID:10908 ICD10:G91 ICD10:G91.9 MESH:D006849 NCIT:C3111 SCTID:230745008 hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive MONDO:0001150 hydrocephalus A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others. COHD:433752 DOID:10937 ICD10:F63.9 ICD9:312.30 ICD9:312.39 NCIT:C34723 SCTID:66347000 ICD impulse-control disorder MONDO:0001162 impulse control disorder Inflammation of renal tissue. COHD:193253 DOID:10952 ICD10:N05 ICD10:N08 ICD9:583.7 ICD9:583.89 ICD9:583.9 MESH:D009393 NCIT:C26833 SCTID:52845002 UMLS:C0027697 inflammation of kidney kidney inflammation MONDO:0001166 nephritis A disease involving the lens of camera-type eye. DOID:110 ICD10:H25-H28 ICD10:H27.9 ICD9:379.39 MESH:D007905 NCIT:C26812 SCTID:10810001 UMLS:C0023308 disease of lens of camera-type eye disease or disorder of lens of camera-type eye disorder of lens of camera-type eye lens disorder lens of camera-type eye disease lens of camera-type eye disease or disorder MONDO:0001176 Includes cataracts, lens subluxation and aphakia lens disease Chronic form of rapidly progressive glomerulonephritis. COHD:442076 DOID:11036 ICD9:582.4 SCTID:197614002 UMLS:C0341694 chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis rapidly progressive glomerulonephritis, chronic MONDO:0001184 chronic rapidly progressive glomerulonephritis An instance of thrombocytopenia that is acquired during the lifetime of the individual. COHD:440372 DOID:11126 ICD10:D69.5 ICD9:287.4 SCTID:74576004 UMLS:C0154301 acquired thrombocytopenia secondary thrombocytopenia secondary thrombocytopenia NOS MONDO:0001198 acquired thrombocytopenia High blood pressure caused by an underlying medical condition. COHD:319826 DOID:11130 EFO:1002034 ICD10:I15 ICD10:I15.9 ICD9:405 ICD9:405.9 ICD9:405.99 SCTID:31992008 UMLS:C0155616 MONDO:0001200 secondary hypertension Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. COHD:140362 DOID:11199 GARD:0006733 ICD10:E20 ICD10:E20.9 ICD9:252.1 MESH:D007011 NCIT:C78350 SCTID:36976004 hypoparathyroidism, idiopathic (subtype) parathyroid, underactivity of MONDO:0001220 hypoparathyroidism https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. DOID:11200 NCIT:C27872 UMLS:C1333147 congenital T-cell immunodeficiency T cell deficiency MONDO:0001222 congenital T-cell immunodeficiency A disease involving the parathyroid gland. COHD:138713 DOID:11201 EFO:0005754 ICD10:E21.5 ICD9:252 ICD9:252.8 ICD9:252.9 MESH:D010279 NCIT:C26844 SCTID:73132005 UMLS:C0030517 disease of parathyroid gland disease of parathyroid glands disease or disorder of parathyroid gland disorder of parathyroid gland parathyroid disease parathyroid gland disease parathyroid gland disease or disorder parathyroid gland diseases parathyroid gland disorder parathyroid gland disorders MONDO:0001223 parathyroid gland disease An inflammatory process that affects the choroid. DOID:11406 GARD:0006062 HP:0012123 ICD10:H30.0 ICD10:H30.1 ICD10:H30.2 ICD10:H30.8 ICD10:H30.9 MESH:D002833 MedDRA:10036370 NCIT:C35111 Orphanet:280892 SCTID:16553002 UMLS:C0008526 UMLS:C0042167 Choroiditides choroiditis posterior uveitis posterior uveitis (disease) MONDO:0001280 choroiditis COHD:193493 DOID:11520 ICD9:403.1 ICD9:403.10 SCTID:193003 UMLS:C0155596 hypertensive renal disease, benign hypertensive renal disease, benign, without mention of renal failure MONDO:0001304 benign hypertensive renal disease Paralysis of the oculomotor nerve. DOID:11550 ICD10:H49.0 NCIT:C27597 Orphanet:98685 SCTID:388980004 UMLS:C0028866 III nerve palsy IIIrd nerve paralysis cranial nerve palsy of oculomotor nerve oculomotor nerve cranial nerve palsy oculomotor nerve paralysis oculomotor palsy third cranial nerve paralysis third cranial nerve paralysis, NOS MONDO:0001309 oculomotor nerve paralysis Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction. DOID:11705 ICD10:N25 ICD9:588.8 ICD9:588.89 ICD9:588.9 SCTID:197663003 disease of kidney kidney disease MONDO:0001343 impaired renal function disease A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. DOID:11971 MESH:D013580 MONDO:0001411 synostosis A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma. DOID:120 ICD10:C51.C58 ICD10:C57 ICD9:184 NCIT:C4913 SCTID:126907002 cancer of female reproductive organ female reproductive cancer female reproductive organ cancer gynecologic cancer malignant female reproductive organ neoplasm malignant female reproductive system neoplasm malignant female reproductive system tumor malignant gynecologic neoplasm malignant gynecologic tumor malignant neoplasm of female genital organ malignant neoplasm of female reproductive organ malignant neoplasm of female reproductive system malignant neoplasm of the female reproductive system malignant tumor of female reproductive system malignant tumor of the female reproductive system female reprod. system cancer, NOS female reproductive system cancer, NOS MONDO:0001416 female reproductive organ cancer An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache. COHD:434000 DOID:12028 ICD10:E26.0 ICD10:E26.01 ICD9:255.12 NCIT:C34510 SCTID:190507007 Conn syndrome Conn's syndrome primary aldosteronism primary hyperaldosteronism MONDO:0001422 Editor note: DOID class refers to adenoma-caused Conn syndrome primary aldosteronism A decrease in the number of neutrophils found in the blood. DOID:1227 ICD10:D70 ICD10:D70.9 ICD9:288.0 ICD9:288.00 MESH:D009503 SCTID:303011007 UMLS:C0027947 neutropenic disorder MONDO:0001475 neutropenia An abnormality in which a part of a structure in one or both eyes is missing. DOID:12270 ICD10:Q13.0 ICD9:743.49 MESH:D003103 NCIT:C98877 Orphanet:194 SCTID:93390002 coloboInOwlma of eye coloboInOwlma of the eye ocular coloboInOwlma coloboInOwlma of macula congenital ocular coloboInOwlma MONDO:0001476 coloboma Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure. COHD:315831 DOID:12326 ICD9:416.8 ICD9:416.9 NCIT:C34478 SCTID:87837008 UMLS:C0238074 Cor pulmonale MONDO:0001493 chronic pulmonary heart disease A carcinoma that arises from epithelial cells of the retroperitoneal space. DOID:12342 NCIT:C7352 UMLS:C0948749 carcinoma of retroperitoneal space carcinoma of retroperitoneum carcinoma of the retroperitoneum retroperitoneal cancer retroperitoneal carcinoma retroperitoneal space carcinoma MONDO:0001502 retroperitoneum carcinoma Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration. COHD:198337 DOID:12384 EFO:1001869 ICD9:009.2 MESH:D004403 SCTID:111939009 UMLS:C0013369 diarrheal disease, infectious infectious diarrhea infectious diarrheal disease infectious diarrheal diseases dysenteric diarrhea MONDO:0001517 dysentery The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed) COHD:379020 DOID:12397 HP:0000621 ICD9:374.00 MESH:D004774 SCTID:33168009 UMLS:C0014390 entropion MONDO:0001519 entropion (disease) COHD:133810 DOID:12465 ICD10:N25.81 ICD9:588.81 SCTID:19034001 UMLS:C0271847 hyperparathyroidism due to renal insufficiency secondary hyperparathyroidism secondary hyperparathyroidism (of renal origin) MONDO:0001530 secondary hyperparathyroidism of renal origin A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. COHD:432585 DOID:1247 ICD10:D68.9 ICD9:286 ICD9:286.9 ICD9:287.8 MESH:D001778 NCIT:C2902 SCTID:64779008 blood coagulation disorder coagulation defect coagulation disorder coagulation disorder, blood coagulation disorders, blood coagulopathy disorder, blood coagulation disorders, blood coagulation postpartum coagulation defect postpartum coagulation defect with delivery MONDO:0001531 blood coagulation disease Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. COHD:197253 DOID:12554 GARD:0006588 ICD10:D59.3 ICD9:283.11 MESH:D006463 NCIT:C75545 OMIMPS:235400 Orphanet:544458 SCTID:111407006 UMLS:C0019061 HUS haemolytic-uraemic syndrome hemolytic uremic syndrome acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells') MONDO:0001549 hemolytic-uremic syndrome Blockage of the normal flow of urine in the urethra. DOID:12577 HP:0000796 ICD9:599.69 MESH:D014524 SCTID:95588004 UMLS:C0041972 obstruction of urethra urethral obstruction MONDO:0001556 urethral obstruction (disease) A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. DOID:12594 GARD:0004462 ICD10:Q60.6 NCIT:C40435 SCTID:41962002 UMLS:C0178426 Potter syndrome Potter's sequence Potter's syndrome oligohydramnios sequence MONDO:0001558 Editor note: check for subtypes, relationship to OMIM:263200 Potter sequence Abnormally high concentration of calcium in the peripheral blood. COHD:435511 DOID:12678 HP:0003072 ICD10:E83.52 ICD9:275.42 MESH:D006934 NCIT:C3112 SCTID:66931009 UMLS:C0020437 hypercalcemia MONDO:0001566 hypercalcemia disease Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys. DOID:12679 GARD:0007177 ICD9:275.49 MESH:D009397 NCIT:C84918 SCTID:48638002 UMLS:C0027709 hypercalcemic nephropathy MONDO:0001567 nephrocalcinosis https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. DOID:127 ICD9:215.9 ICDO:8890/0 MESH:D007889 NCIT:C3157 SCTID:146801000119103 UMLS:C0023267 fibroid fibroid neoplasm fibroid tumor leiomyoma leiomyoma, benign leiomyomatous neoplasm leiomyomatous neoplasm (morphologic abnormality) leiomyomatous tumor MONDO:0001572 leiomyoma COHD:376112 DOID:12785 ICD10:G63.2 ICD9:357.2 SCTID:49455004 UMLS:C0271680 diabetes mellitus with polyneuropathy polyneuropathy in diabetes MONDO:0001583 diabetic polyneuropathy A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood. DOID:12987 GARD:0006545 ICD10:D70 ICD9:288.8 MESH:D000380 NCIT:C2863 SCTID:417672002 UMLS:C0001824 Granulocytopenic disorder Granulopenia granulocytopenia MONDO:0001609 agranulocytosis Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. COHD:4182210 DOID:1307 GARD:0011946 ICD9:290.8 ICD9:294.1 ICD9:294.8 MESH:D003704 NCIT:C4786 SCTID:52448006 dementia MONDO:0001627 dementia (disease) DOID:13121 ICD9:281.8 ICD9:281.9 SCTID:267513007 UMLS:C0041782 deficiency anemias unspecified deficiency anemia MONDO:0001639 deficiency anemia Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. COHD:433536 DOID:13129 ICD9:642.50 NCIT:C112843 Preeclampsia with severe features antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe pre-eclampsia, with delivery severe preeclampsia MONDO:0001641 severe pre-eclampsia Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus. COHD:259070 DOID:13138 ICD9:580.0 NCIT:C35443 SCTID:197579006 UMLS:C0341692 acute glomerulonephritis with lesion of proliferative glomerulonephritis post-streptococcal glomerulonephritis proliferative glomerulonephritis, acute MONDO:0001644 acute proliferative glomerulonephritis A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months. DOID:13139 HP:0008653 ICD9:580.4 NCIT:C35444 SCTID:236398000 crescentic glomerulonephritis MONDO:0001645 crescentic glomerulonephritis (disease) Mild to moderate high blood pressure that is caused by an underlying medical condition. COHD:314958 DOID:13143 ICD9:405.1 ICD9:405.19 SCTID:194785008 UMLS:C0155620 MONDO:0001646 benign secondary hypertension DOID:13145 ICD9:405.11 MONDO:0001647 benign renovascular hypertension Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs. COHD:435789 DOID:13382 HP:0001889 ICD10:D53.1 ICD9:281.3 NCIT:C34382 SCTID:53165003 UMLS:C0002888 Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anemia recessive hereditary megaloblastic anemia 1 IGS MONDO:0001700 megaloblastic anemia (disease) An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia. DOID:1342 GARD:0006149 ICD10:D61.0 ICD10:D61.01 ICD9:284.0 ICD9:284.09 MESH:D029502 Orphanet:68383 SCTID:28975000 UMLS:C0702159 UMLS:C0949116 congenital hypoplastic anemia constitutional aplastic anemia hereditary aplastic anemia rare constitutional aplastic anemia congenital aplastic anemia constitutional aplastic anaemia hypoplastic anemia - familial MONDO:0001713 In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency inherited aplastic anemia Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. DOID:13515 ICD10:Q85.1 ICD9:759.5 MESH:D014402 NCIT:C3424 OMIMPS:191100 SCTID:7199000 Bourneville's disease Epiloia TSC cerebral sclerosis tuberose sclerosis tuberous sclerosis tuberous sclerosis syndrome Bourneville Phacomatosis Bourneville disease Bourneville phakomatosis Bourneville pringle disease Bourneville pringle's disease Bourneville syndrome Bourneville's syndrome Bourneville-Pringles disease Bourneville-pringle disease Bourneville-pringle's disease Phacomatosis, Bourneville adenoma sebaceum adenoma sebaceum syndrome bourneville's disease cerebral Scleroses disease, Bourneville-pringle disease, Bourneville-pringle's phakomatosis, Bourneville sclerosis Tuberosa sclerosis, cerebral sclerosis, tuberose sclerosis, tuberous syndrome, Bourneville syndrome, Bourneville's ts - tuberous sclerosis tuberous sclerosis Complex MONDO:0001734 Editor note: TODO check MONDO:0019341; consider placement under neoplastic syndrome tuberous sclerosis Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. COHD:133729 DOID:13543 EFO:0008506 ICD10:E21.3 ICD9:252.0 ICD9:252.00 MESH:D006961 NCIT:C48259 SCTID:66999008 UMLS:C0020502 hyperparathyroidism MONDO:0001741 hyperparathyroidism DOID:13575 ICD9:252.02 MONDO:0001750 non-renal secondary hyperparathyroidism DOID:13730 malignant renal artery stenosis malignant renal hypertension MONDO:0001784 malignant renovascular hypertension COHD:318437 DOID:13731 ICD9:405.0 ICD9:405.09 SCTID:89242004 UMLS:C0155617 MONDO:0001785 malignant secondary hypertension COHD:196162 DOID:13736 ICD10:N71.9 ICD9:615.9 SCTID:28783002 UMLS:C0269047 inflammatory disease of the uterus MONDO:0001786 uterine inflammatory disease Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins). DOID:1387 GARD:0008394 HP:0010981 ICD10:E78.6 ICD9:272.5 MESH:D007009 SCTID:363140000 hypolipoproteinaemia hypolipoproteinemia lipoprotein deficiencies MONDO:0001822 hypolipoproteinemia (disease) A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. DOID:1400 ICD10:H04 ICD10:H04.9 ICD9:375 ICD9:375.69 ICD9:375.89 ICD9:375.9 NCIT:C26809 SCTID:31053003 disease of lacrimal apparatus disease or disorder of lacrimal apparatus disorder of lacrimal apparatus disorder of lacrimal system lacrimal apparatus disease lacrimal apparatus disease or disorder lacrimal system disease lacrimal system disorder lachrymal system disorders MONDO:0001854 lacrimal apparatus disease Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female. DOID:14064 SCTID:68544003 UMLS:C0403414 post-streptococcal glomerulonephritis MONDO:0001870 acute poststreptococcal glomerulonephritis An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure. DOID:14066 NCIT:C35587 SCTID:197585004 UMLS:C0341689 acute diffuse glomerulonephritis diffuse glomerulonephritis, acute acute diffuse nephritis MONDO:0001871 acute diffuse glomerulonephritis A atherosclerosis that involves the renal artery. COHD:195834 DOID:14092 ICD10:I70.1 ICD9:440.1 SCTID:45281005 UMLS:C0155734 atherosclerosis of renal artery renal artery atherosclerosis renal atherosclerosis MONDO:0001876 renal artery atheroma A disease involving the optic choroid. DOID:1417 ICD10:H31.9 ICD9:363.8 ICD9:363.9 MESH:D015862 NCIT:C34468 SCTID:128468007 UMLS:C0008521 choroid disorder disease of optic choroid disease or disorder of optic choroid disorder of optic choroid optic choroid disease optic choroid disease or disorder choroid disease MONDO:0001898 optic choroid disease Dermatomyositis in an adult. DOID:14202 NCIT:C27313 SCTID:402425006 adult onset dermatomyositis dermatomyositis of adults MONDO:0001907 adult dermatomyositis A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets. DOID:14219 GARD:0007552 ICD10:N25.89 ICD9:588.89 MESH:D000141 SCTID:1776003 UMLS:C0001126 MONDO:0001909 renal tubular acidosis https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis A disease involving the endocrine pancreas. DOID:1428 ICD10:E16 ICD9:251 NCIT:C27067 SCTID:17346000 UMLS:C0271633 disease of endocrine pancreas disease or disorder of endocrine pancreas disorder of endocrine pancreas endocrine pancreas disease endocrine pancreas disease or disorder endocrine pancreas disorder disorder of islets of langerhans disorder of pancreatic islets MONDO:0001933 endocrine pancreas disease A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. COHD:201951 DOID:14447 GARD:0002538 ICD9:758.6 MESH:D006059 NCIT:C61420 SCTID:205681004 gonadal dysgenesis syndrome MONDO:0001967 gonadal dysgenesis https://rarediseases.info.nih.gov/diseases/2538/gonadal-dysgenesis A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution. DOID:14449 GARD:0002539 MESH:D006060 SCTID:83579008 UMLS:C0018055 gonadal dysgenesis mixed MONDO:0001969 mixed gonadal dysgenesis https://rarediseases.info.nih.gov/diseases/2539/gonadal-dysgenesis-mixed Increased blood pressure in the arteries of the lungs; the etiology is unknown. DOID:14557 ICD10:I27.0 ICD9:416.0 pulmonary hypertension, primary MONDO:0001999 primary pulmonary hypertension A cholesterol embolism that involves the kidney. DOID:1460 ICD10:I75.81 cholesterol embolism of kidney kidney cholesterol embolism MONDO:0002004 atheroembolism of kidney A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. DOID:14749 GARD:0007033 ICD10:E71.120 ICD9:270.7 NCIT:C98986 SCTID:42393006 UMLS:C0268583 UMLS:C1855119 methylmalonic aciduria METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B methylmalonic acidemia, cblA type methylmalonic acidemia, cblB type methylmalonic aciduria cblB type methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type methylmalonic aciduria type cblA methylmalonic aciduria type cblB methylmalonic aciduria, mut type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type MONDO:0002012 methylmalonic acidemia A disease that involves the orbital region. DOID:1492 ICD10:H00.H59 ICD10:H35.00 ICD9:362.10 SCTID:371409005 disease of orbital region disease or disorder of orbital region disorder of eye region disorder of orbital region orbital region disease orbital region disease or disorder eye and adnexa disease ophthalmological disorder MONDO:0002022 disease of orbital region A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. DOID:150 ICD10:F99 ICD10:F99-F99 MESH:D001523 MFOMD:0000004 NCIT:C2893 Psychiatric disease Psychiatric disorder disease of mental health mental disorder mental dysfunction mental illness MONDO:0002025 psychiatric disorder A disease affects cognitive processes. COHD:374009 DOID:1561 EFO:1001457 ICD10:F09 ICD9:294.9 MESH:D019965 NCIT:C92196 SCTID:443265004 cognitive disease cognitive disorder organic mental disorder MONDO:0002039 cognitive disorder COHD:255304 DOID:1578 ICD10:M34.81 ICD9:517.2 SCTID:196133001 UMLS:C0339904 lung disease with systemic sclerosis lung involvement in systemic sclerosis scleroderma lung disease scleroderma of lung MONDO:0002047 pulmonary systemic sclerosis A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood. DOID:1588 ICD10:D69.6 ICD9:287.5 MESH:D013921 NCIT:C3408 OMIMPS:313900 SCTID:302215000 UMLS:C0040034 UMLS:CN130080 platelet count decreased thrombocytopenic disorder MONDO:0002049 thrombocytopenia A disease involving the integumental system. MONDO:0045027 DOID:16 SCTID:128598002 UMLS:C1290011 disease of integumental system disease or disorder of integumental system disorder of integumental system integumental system disease integumental system disease or disorder integumentary disease disorder of integument MONDO:0002051 integumentary system disease A disease involving the musculoskeletal system. DOID:17 ICD9:729.99 MESH:D009140 NCIT:C107377 SCTID:928000 UMLS:C0026857 disease of musculoskeletal system disease or disorder of musculoskeletal system disorder of musculoskeletal system musculoskeletal disease musculoskeletal system disease musculoskeletal system disease or disorder musculoskeletal system disorder musculoskeletal disorder MONDO:0002081 musculoskeletal system disease A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. EFO:0003769 ICD9:239.7 NCIT:C3010 SCTID:387922007 endocrine gland neoplasm (disease) endocrine gland tumor endocrine neoplasm endocrine system neoplasm endocrine system tumor endocrine tumor neoplasm of endocrine gland tumor of endocrine gland malignant endocrine tumor MONDO:0002082 endocrine gland neoplasm A malignant neoplasm arising from the blood vessels. Haemangiomatous tumour blood vessel neoplasm blood vessel tumor (morphologic abnormality) blood vessel tumors (morphologic abnormality) blood vessel tumour disorder DOID:175 MESH:D009383 NCIT:C8538 blood vessel tumor blood vessel tumors cancer of vasculature malignant blood vessel neoplasm malignant blood vessel tumor malignant great vessel tumor malignant neoplasm of vasculature malignant vascular neoplasm malignant vascular tumor malignant vasculature neoplasm pulmonary artery cancer vasculature cancer leiomyosarcoma of the renal vein malignant tumor of pulmonary artery malignant tumor of pulmonary vein neoplasm of great vessel pulmonary artery malignant neoplasm pulmonary vein malignant neoplasm renal vein leiomyosarcoma vascular tissue neoplasm vascular tumors MONDO:0002095 Editor note: see also NCIT:C7390 vascular cancer A primary or metastatic malignant neoplasm involving the cardiovascular system. cardiovascular neoplasm DOID:176 NCIT:C114940 UMLS:C0497243 UMLS:C3898472 cancer of cardiovascular system cardiovascular system cancer cardiovascular tumors malignant cardiovascular neoplasm malignant cardiovascular system neoplasm malignant neoplasm of cardiovascular system MONDO:0002100 cardiovascular cancer A malignant neoplasm involving the thyroid gland COHD:4178976 DOID:1781 ICD10:C73 ICD9:193 KEGG:05216 NCIT:C7510 SCTID:363478007 UMLS:CN221577 cancer of thyroid gland malignant neoplasm of the thyroid malignant neoplasm of the thyroid gland malignant neoplasm of thyroid malignant neoplasm of thyroid gland malignant thyroid gland neoplasm malignant thyroid gland tumor malignant thyroid neoplasm malignant thyroid tumor malignant tumor of the thyroid malignant tumor of the thyroid gland malignant tumor of thyroid malignant tumor of thyroid gland malignant tumour of thyroid gland neoplasm of thyroid gland thyroid gland cancer thyroid gland neoplasm thyroid neoplasm MONDO:0002108 thyroid cancer A disease involving the renal system. DOID:18 ICD9:V47.4 MESH:D014570 NCIT:C3430 SCTID:128606002 UMLS:C1335051 disease of renal system disease or disorder of renal system disorder of renal system disorder of the urinary system disorder of urinary system non-neoplastic urinary tract disease renal disease renal system disease renal system disease or disorder urinary system disease urinary tract disease urinary tract disorder urologic disorder urological disorders disease, urinary tract disease, urologic disease, urological diseases, urinary tract diseases, urologic diseases, urological urinary disease urinary system disorder urinary tract diseases urologic disease urological disease urological diseases urological disorder MONDO:0002118 urinary system disease Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. DOID:182 EFO:0003837 HP:0003761 ICD9:275.49 MESH:D002114 NCIT:C3672 SCTID:6595006 calcification calcium deposit(s) deposit(s), calcium macrocalcification pathologic calcification pathologically calcified structure MONDO:0002123 calcinosis A primary or metastatic malignant neoplasm affecting the bone or articular cartilage. COHD:443564 CSP:2019-1041 DOID:184 ICD9:170.9 MESH:D001859 NCIT:C4016 SCTID:428281000 CA - bone cancer bone cancer bone neoplasm bone tumour cancer of bone cancer of skeletal element cancer of the bone malignant bone neoplasm malignant bone tumor malignant bone tumour malignant neoplasm of bone malignant neoplasm of skeletal element malignant neoplasm of the bone malignant osseous neoplasm malignant osseous tumor malignant skeletal element neoplasm malignant tumor of bone malignant tumor of the bone neoplasm of bone osseous cancer osseous tumor skeletal element cancer bone cancer, NOS MONDO:0002129 bone cancer A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve). COHD:374360 DOID:1891 ICD9:377.49 ICD9:377.9 MESH:D009901 NCIT:C79698 SCTID:77157004 UMLS:C0029132 cranial nerve II disease cranial nerve II disease or disorder disease of cranial nerve II disease or disorder of cranial nerve II disorder of cranial nerve II disorder of the second nerve optic nerve disorder optic neuropathy second cranial nerve disorder MONDO:0002135 optic nerve disease A congenital disorder characterized by abnormalities in the development of the sexual characteristics. CARD DSD DOID:1923 GTR:AN1172969 MESH:D012734 MedDRA:10070597 NCIT:C103186 Orphanet:90771 SCTID:39179006 UMLS:CN757797 conditions affecting reproductive development differences of Sex development disorder of sex development disorder of sex differentiation disorder of sexual differentiation disorders of Sex development intersex intersex conditions sex differentiation disorder sexual differentiation disorder disorders of sex development (DSD) MONDO:0002145 sex differentiation disease A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation. DOID:1924 ICD9:253.4 MESH:D007006 NCIT:C9227 SCTID:48130008 UMLS:C0020619 gonadotropin deficiency hypogonadotropism MONDO:0002146 hypogonadism A malignant neoplasm involving the reproductive organ DOID:193 NCIT:C36076 UMLS:C1334618 cancer of reproductive organ cancer of reproductive system malignant neoplasm of reproductive organ malignant neoplasm of reproductive system malignant reproductive organ neoplasm malignant reproductive system neoplasm reproductive organ cancer reproductive system cancer reproductive tumor MONDO:0002149 reproductive system cancer A malignant neoplasm involving the connective tissue connective tissue neoplasm DOID:201 cancer of connective tissue connective tissue cancer malignant connective tissue neoplasm malignant neoplasm of connective tissue neoplasm of connective tissues tumour of connective tissue MONDO:0002176 connective tissue cancer DOID:214 ICD10:K03 ICD10:K03.8 ICD10:K03.89 ICD9:521.8 ICD9:521.89 SCTID:46557008 UMLS:C0155926 disorder of hard tissues of teeth teeth hard tissue disease teeth hard tissue diseases MONDO:0002220 tooth hard tissue disease Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders). DOID:2213 ICD10:D69.9 ICD9:287.9 MESH:D006474 NCIT:C115221 bleeding diathesis bleeding disorder bleeding predisposition bleeding tendency hemorrhagic diathesis hemorrhagic disease MONDO:0002243 hemorrhagic disease Disorders caused by abnormalities in platelet count or function. MESH:D001791 NCIT:C131634 SCTID:22716005 platelet abnormality platelet disorder thrombocytopathy MONDO:0002245 blood platelet disease A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. DOID:225 MESH:D013577 NCIT:C28193 OGMS:0000086 UMLS:C0039082 cluster, symptom clusters, symptom symptom cluster symptom clusters syndrome syndrome associated with disease or disorder syndromes syndromic disease syndromic disease or disorder MONDO:0002254 syndromic disease A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma. DOID:2253 MESH:D002577 NCIT:C40241 SCTID:63339007 UMLS:C0007867 cervical disorder disease of uterine cervix disease or disorder of uterine cervix disorder of uterine cervix uterine cervix disease uterine cervix disease or disorder MONDO:0002256 cervix disease Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma. pharyngeal disease pharyngeal disorder DOID:2275 ICD10:J02 ICD10:J02.9 ICD9:462 ICD9:472 ICD9:478.20 MESH:D010612 NCIT:C26851 SCTID:405737000 UMLS:C0031350 Sore throat inflamed throat inflammation of throat throat inflammation Sore throat - chronic acute pharyngitis acute sore throat chronic pharyn/nasopharyngitis chronic pharyngitis chronic pharyngitis and nasopharyngitis chronic sore throat persistent sore throat pharyngitis - acute MONDO:0002258 pharyngitis A non-neoplastic or neoplastic disorder that affects the testis or the ovary. DOID:2277 MESH:D006058 NCIT:C26786 UMLS:C0018050 disease of gonad disease or disorder of gonad disorder of gonad disorder of gonads gonad disease gonad disease or disorder gonadal disorder gonadal disorders MONDO:0002259 gonadal disease A disease involving the female reproductive system. DOID:229 ICD9:629.9 MESH:D005831 NCIT:C27020 SCTID:310789003 disease of female reproductive system disease or disorder of female reproductive system disorder of female genital system disorder of female reproductive system female reproductive disease female reproductive system disease female reproductive system disease or disorder female reproductive system disorder disease of female genital system disorder of female genital tract gynecological disease MONDO:0002263 female reproductive system disease An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. COHD:198062 DOID:2326 EFO:1001463 ICD10:K52.9 ICD9:558.9 MESH:D005759 NCIT:C34632 SCTID:25374005 UMLS:C0017160 cholera morbus inflammation of intestine intestine inflammation infectious colitis, enteritis and gastroenteritis MONDO:0002269 gastroenteritis An inherited metabolic disorder that involves plasma protein metabolism malfunction. DOID:2345 ICD9:273.8 MONDO:0002273 plasma protein metabolism disease A vascular disorder characterized by thickening and hardening of the walls of the arteries. CSP:0571-2299 DOID:2348 DOID:2349 EFO:0009086 HP:0002634 ICD10:I25.1 ICD10:I70 ICD9:440 MESH:D001161 NCIT:C34398 NCIT:C34403 SCTID:72092001 UMLS:C0003850 UMLS:C3665365 arterial sclerosis arteriosclerosis arteriosclerotic cardiovascular disease arteriosclerotic vascular disease cardiovascular arteriosclerosis vascular sclerosis arteriosclerosis NOS arteriosclerotic cardiovascular disease, NOS arteriosclerotic vascular disease NOS MONDO:0002277 arteriosclerosis disorder A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. DOID:2355 EFO:0004272 HP:0001903 ICD10:D64.9 ICD9:285.8 ICD9:285.9 MESH:D000740 NCIT:C2869 SCTID:271737000 anaemia anemia MONDO:0002280 anemia (disease) Anemia that is characterized by increased red blood cell volume. DOID:2361 HP:0001972 MESH:D000748 NCIT:C34381 SCTID:83414005 UMLS:C0002886 D22S676 D22S750 anemia macrocytic macrocytic Anemia macrocytic anaemia macrocytic anaemia of unspecified cause macrocytic anemia MONDO:0002281 macrocytic anemia (disease) A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927) DOID:2367 MESH:D019150 NCIT:C161542 SCTID:230365004 UMLS:C0338473 MONDO:0002283 neuroaxonal dystrophy A disease involving the renal artery. DOID:2388 ICD9:593.81 NCIT:C101254 SCTID:16934004 UMLS:C0268790 UMLS:C3640053 renal vascular disease vascular disorder of kidney MONDO:0002286 renal artery disease A disease involving the iris. DOID:240 MESH:D007499 NCIT:C34737 SCTID:85478004 UMLS:C0022078 disease of iris disease or disorder of iris disorder of iris iris disease iris disease or disorder iris disorder MONDO:0002289 iris disease A benign, intermediate, or malignant neoplasm that arises from the dermis. DOID:2438 NCIT:C4475 UMLS:C0346041 dermal neoplasm dermal tumor dermis neoplasm dermis neoplasm (disease) dermis tumor neoplasm of dermis neoplasm of the dermis tumor of dermis tumor of the dermis MONDO:0002300 dermis tumor A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. COHD:4295287 DOID:2452 ICD10:D68.59 ICD9:286.9 MESH:D019851 NCIT:C84479 SCTID:234467004 UMLS:C0398623 excessive blood clotting hypercoagulability hypercoagulability state hypercoagulable MONDO:0002305 thrombophilia Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage. COHD:434337 DOID:2462 ICD9:362.13 NCIT:C35170 SCTID:57534004 UMLS:C0154833 retina circulation disorder retinal vascular disorder MONDO:0002311 retinal vascular disease A metabolic disorder that affects the phosphate homeostasis. COHD:435788 DOID:2485 ICD10:E83.3 ICD9:275.3 MESH:D010760 NCIT:C97095 SCTID:87049008 UMLS:C0031707 disorder of phosphorus metabolism phosphorus disorder phosphorus metabolic disorder phosphorus metabolism disorder MONDO:0002319 phosphorus metabolism disease An abnormality of the nervous system that is present at birth or detected in the neonatal period. DOID:2490 ICD9:742 NCIT:C97172 congenital abnormality of the nervous system congenital nervous system disorder congenital neurologic anomaly MONDO:0002320 congenital nervous system disorder Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA. DOID:2527 MESH:D009401 UMLS:C0027720 Nephroses MONDO:0002331 nephrosis Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003 DOID:2531 MESH:D019337 NCIT:C35813 SCTID:129154003 UMLS:C0376544 UMLS:C0376545 UMLS:C1512393 blood neoplasm (disease) blood tumor hematologic neoplasm hematological tumors hematopoietic and lymphoid system neoplasm hematopoietic and lymphoid system tumor hematopoietic neoplasm hematopoietic neoplasm (morphologic abnormality) hematopoietic system neoplasm hematopoietic system tumor hematopoietic tumors malignant hematopoietic neoplasm neoplasm of blood neoplasm of hematopoietic system tumor of blood tumor of hematopoietic system blood cancer hematologic malignancy hematopoietic cancer malignant hematopoietic neoplasm (morphologic abnormality) hematologic cancer MONDO:0002334 hematopoietic and lymphoid system neoplasm Inflammation of the arteries that is characterized by the presence of granulomas. DOID:2555 NCIT:C34653 UMLS:C0018202 Granulomatous arteritis MONDO:0002341 granulomatous angiitis Pathological processes involving the chondral tissue (cartilage). COHD:438531 DOID:2557 ICD10:M94.2 ICD10:M94.20 ICD9:733.92 SCTID:63198006 UMLS:C0085700 MONDO:0002342 chondromalacia An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome. DOID:2590 ICD10:N04 NCIT:C35337 OMIMPS:256300 SCTID:48796009 UMLS:C3501848 UMLS:CN043611 congenital nephrotic syndrome hereditary nephrotic syndrome MONDO:0002350 familial nephrotic syndrome A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. DOID:26 ICD10:K86.8 ICD9:577.8 ICD9:577.9 MESH:D010182 NCIT:C26842 SCTID:3855007 disease of pancreas disease or disorder of pancreas disorder of pancreas pancreas disease pancreas disease or disorder pancreatic disorder disease, pancreatic diseases, pancreatic pancreatic disease MONDO:0002356 pancreas disease A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma. DOID:2615 ICDO:8050/0 MESH:D010212 NCIT:C7440 SCTID:711329002 UMLS:C0030354 papilloma papilloma (except papilloma of bladder M-81201) (morphologic abnormality) papilloma, benign papillomatosis papillomatosis NOS (morphologic abnormality) papillomatosis, NOS MONDO:0002363 papilloma A hemangiopericytoma arising from the kidney. DOID:262 NCIT:C4527 SCTID:254923001 UMLS:C0346256 hemangiopericytoma of kidney hemangiopericytoma of the kidney kidney hemangiopericytoma kidney spindle cell tumor renal hemangiopericytoma MONDO:0002365 kidney hemangiopericytoma Primary or metastatic malignant neoplasm involving the kidney. DOID:263 ICD10:C64 ICD9:189.0 MESH:D007680 NCIT:C7548 SCTID:363518003 UMLS:CN881103 cancer of kidney kidney cancer malignant kidney neoplasm malignant kidney tumor malignant neoplasm of kidney malignant neoplasm of kidney except pelvis malignant neoplasm of the kidney malignant renal neoplasm malignant renal tumor malignant tumor of kidney malignant tumor of the kidney malignant tumour of kidney renal cancer MONDO:0002367 kidney cancer A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid. DOID:2673 EFO:1000213 ICDO:8959/0 NCIT:C7504 UMLS:C1266138 benign cystic nephroma benign multilocular cystic nephroma cystic nephroma MONDO:0002385 benign cystic nephroma A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria. DOID:2678 EFO:1000381 NCIT:C37263 UMLS:C1272677 MEST benign MEST mixed epithelial and stromal tumour of kidney mixed epithelial stromal tumor of the kidney adult mesoblastic nephroma MONDO:0002386 mixed epithelial stromal tumor of the kidney An adenoma arising from the renal cortex. DOID:2697 NCIT:C8383 UMLS:C0334684 adenoma, renal cell, benign kidney adenoma renal adenoma renal cell adenoma renal cell adenoma (morphologic abnormality) renal tubule adenoma MONDO:0002395 renal adenoma A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells. DOID:2698 ICDO:8965/0 NCIT:C39812 UMLS:C1266141 metanephric adenofibroma MONDO:0002396 nephrogenic adenofibroma An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis. DOID:2723 EFO:1000636 ICD10:L30.9 ICD9:692.9 MESH:D003872 NCIT:C2983 SCTID:43116000 UMLS:C0011603 eczema inflammation of skin inflammation of the skin inflammation of zone of skin inflammatory skin disease skin inflammation zone of skin inflammation MONDO:0002406 dermatitis A disease involving the auditory system. DOID:2742 EFO:1001455 ICD10:H93.9 ICD10:H93.90 ICD9:388.9 SCTID:362966006 auditory disease auditory system disease auditory system disease or disorder disease of auditory system disease or disorder of auditory system disorder of auditory system ear and mastoid disease MONDO:0002409 auditory system disease COHD:199869 DOID:2743 ICD10:N28.85 ICD9:590.3 SCTID:37779008 UMLS:C0156254 MONDO:0002410 pyeloureteritis cystica An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. COHD:434003 DOID:0050728 DOID:2747 ICD10:E74.0 ICD10:E74.00 ICD9:271.0 MESH:D006008 MedDRA:10061990 NCIT:C61272 Orphanet:79201 SCTID:29633007 UMLS:C0017919 GSD glycogen metabolism disorder glycogen storage disease glycogen storage disorder glycogenoses glycogenosis inborn error of glycogen metabolic process inborn glycogen metabolic process disorder inborn glycogen storage disorder rare inborn error of glycogen metabolic process MONDO:0002412 glycogen storage disease Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. MONDO:0018220 DOID:2749 ICD10:E74.0 ICD10:E74.01 MESH:D005953 MedDRA:10018464 NCIT:C84733 Orphanet:364 SCTID:7265005 G6P deficiency GSD due to G6P deficiency GSD type 1 GSD type I GSD1 deficiency of glucose-6-phosphatase glycogen storage disease due to G6P deficiency glycogen storage disease due to glucose-6-phosphatase deficiency glycogen storage disease type 1 glycogen storage disease type I glycogen storage disease, type I glycogenosis type 1 glycogenosis type I hepatorenal glycogenosis von Gierke disease von Gierke's disease MONDO:0002413 glycogen storage disease I Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia. DOID:2786 MESH:D002526 SCTID:223176004 UMLS:C0007760 cerebellum disease cerebellum disease or disorder disease of cerebellum disease or disorder of cerebellum disorder of cerebellum MONDO:0002427 cerebellar disease Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli. DOID:2920 HP:0000793 chronic glomerulonephritis, lobular lobular glomerulonephritis membranoproliferative glomerulonephritis MONDO:0002461 membranoproliferative glomerulonephritis (disease) A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. DOID:2921 GARD:0006516 HP:0000099 ICD10:N05 ICD10:N08 ICD9:583.9 MESH:D005921 NCIT:C26784 SCTID:36171008 UMLS:C0017658 glomerular nephritis glomerulonephritis nephritis of renal glomerulus renal glomerulus nephritis bright's disease MONDO:0002462 glomerulonephritis (disease) A congenital or acquired kidney disorder characterized by the presence of renal cysts. COHD:193016 DOID:2975 ICD10:Q61 MESH:D052177 NCIT:C34750 SCTID:722223000 UMLS:C0022679 kidney cyst renal cyst MONDO:0002473 cystic kidney disease A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. DOID:2977 ICD10:E72.53 ICD10:E74.8 ICD9:271.8 MESH:D006960 MedDRA:10020703 NCIT:C123158 OMIMPS:259900 Orphanet:416 SCTID:17901006 UMLS:C0020501 hyperoxaluria, primary primary hyperoxaluria MONDO:0002474 primary hyperoxaluria Absence of urine output. DOID:2983 MESH:D001002 UMLS:C0003460 suppression of urinary secretion MONDO:0002476 anuria Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria. DOID:3021 ICD10:N17 MESH:D058186 NCIT:C26808 AKI ARF acute kidney injury acute renal failure kidney failure, acute MONDO:0002492 acute kidney failure A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma. DOID:3112 ICDO:8260/3 MESH:D000231 NCIT:C2853 UMLS:C0001420 UMLS:C1321863 adenocarcinoma, papillary, malignant infiltrating and papillary adenocarcinoma infiltrating papillary adenocarcinoma papillary adenocarcinoma papillary adenocarcinoma (morphologic abnormality) papillary adenocarcinoma NOS (morphologic abnormality) MONDO:0002512 papillary adenocarcinoma A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis. COHD:195498 DOID:3116 EFO:1000111 ICD9:223.0 NCIT:C4778 SCTID:92165001 benign kidney neoplasm benign kidney tumor benign neoplasm of kidney benign neoplasm of the kidney benign renal neoplasm benign renal tumor benign tumor of kidney benign tumor of the kidney kidney benign neoplasm renal and ureteral tumor renal neoplasm, benign renal tumor, benign MONDO:0002513 kidney benign neoplasm A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma. DOID:3118 NCIT:C3959 UMLS:C0267792 disease of hepatobiliary system disease or disorder of hepatobiliary system disorder of hepatobiliary system hepatobiliary disorder hepatobiliary system disease hepatobiliary system disease or disorder liver and biliary disease liver and biliary disorder liver and biliary system disorder liver and biliary tract disease MONDO:0002515 hepatobiliary disease An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. disorder of lipid metabolism dyslipidemia lipid metabolism disorder DOID:3146 ICD9:272.8 ICD9:272.9 MedDRA:10061227 NCIT:C97092 Orphanet:309005 SCTID:267431006 UMLS:C0154251 fatty acid metabolism disorder MONDO:0002525 inherited lipid metabolism disorder A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma. DOID:3165 EFO:0004198 ICD9:239.2 MESH:D012878 NCIT:C3372 ONCOTREE:SKIN SCTID:126488004 UMLS:C0037286 neoplasm of skin neoplasm of skin by site neoplasm of the skin neoplasm of zone of skin skin neoplasm skin neoplasms skin tumor tumor of skin tumor of the skin tumor of zone of skin zone of skin neoplasm zone of skin neoplasm (disease) zone of skin tumor skin skin benign neoplasm MONDO:0002531 skin neoplasm A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example. DOID:3168 MESH:D018307 NCIT:C3792 UMLS:C0206720 epidermoid cell neoplasm epidermoid cell tumor squamous cell neoplasm squamous cell tumor squamous cell tumor (qualifier value) MONDO:0002532 squamous cell neoplasm An adenoma characterized by the presence of papillary epithelial patterns. DOID:3172 NCIT:C79951 UMLS:C0205650 adenoma, papillary, benign glandular papilloma papillary adenoma papillary adenoma NOS (morphologic abnormality) MONDO:0002533 papillary adenoma An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses. DOID:3179 ICD9:212.0 MESH:D018308 NCIT:C3793 SCTID:104081000119103 UMLS:C0206721 inverted papilloma inverted papilloma, squamous cell MONDO:0002537 inverted papilloma A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. DOID:3211 MESH:D016464 NCIT:C61250 Orphanet:68366 SCTID:23585005 UMLS:C0085078 UMLS:CN205533 disorder of lysosomal enzyme disorder of lysosomal enzymes inborn lysosomal enzyme disorder lysosomal disease lysosomal disorder lysosomal storage disorder lysosomal storage metabolism disorder lysosome disease lysosome disorder phospholipidosis MONDO:0002561 lysosomal storage disease A disease involving the central nervous system. DOID:331 ICD10:G96.9 MESH:D002493 NCIT:C2934 SCTID:23853001 UMLS:C0007682 central nervous disease central nervous system disease central nervous system disease or disorder central nervous system disorder disease of central nervous system disease or disorder of central nervous system disorder of central nervous system MONDO:0002602 central nervous system disease A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described. DOID:3314 GARD:0012024 ICDO:8860/0 MESH:D018207 NCIT:C3734 UMLS:C0206633 angiomyolipoma (morphologic abnormality) MONDO:0002603 angiomyolipoma A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. DOID:3316 NCIT:C6528 UMLS:C1335392 Pericytic neoplasm Pericytic tumor perivascular neoplasm perivascular tumor malignant perivascular cancer MONDO:0002604 pericytic neoplasm A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color. DOID:3326 HP:0000979 ICD10:D69.2 MESH:D011693 SCTID:387778001 UMLS:C0034150 purpura purpuric disorder MONDO:0002610 purpura (disease) Inflammation of the bone. DOID:3342 MESH:D010000 SCTID:274144001 UMLS:C0029400 bone inflammatory disease inflammatory disorder of bone osteitis MONDO:0002614 bone inflammation disease A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma. DOID:3350 NCIT:C7059 UMLS:C1334699 benign miscellaneous mesenchymal tumor mesenchymal cell neoplasm mesenchymal cell tumor mesenchymal neoplasm mesenchymal tumor MONDO:0002616 mesenchymal cell neoplasm An osteosarcoma arising from the soft tissue. DOID:3357 ICD9:170.9 NCIT:C8810 SCTID:404077005 UMLS:C0855052 extraosseous osteosarcoma extraskeletal osteogenic sarcoma extraskeletal osteosarcoma osteosarcoma, extraskeletal, malignant soft tissue osteosarcoma MONDO:0002621 extraosseous osteosarcoma A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. DOID:345 ICD10:N85.9 ICD9:621.8 ICD9:621.9 MESH:D014591 NCIT:C26907 SCTID:12337004 UMLS:C0042131 disease of uterus disease or disorder of uterus disorder of uterus uterine disease uterine disorder uterus disease uterus disease or disorder MONDO:0002654 uterine disease A disease involving the breast. COHD:77030 DOID:3463 ICD10:N60-N65 ICD10:N64.9 ICD9:610-612.99 ICD9:611.8 ICD9:611.9 MESH:D001941 NCIT:C26709 SCTID:79604008 UMLS:C0006145 breast disease breast disease or disorder breast diseases breast disorder disease of breast disease or disorder of breast disorder of breast MONDO:0002657 breast disease A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma. DOID:3480 GARD:0008192 MESH:D014603 NCIT:C26908 SCTID:95678007 UMLS:C0042161 disease of uvea disease or disorder of uvea disorder of uvea uvea disease uvea disease or disorder uveal disease uveal disorder uveal tract disease disorder of uveal tract uveal diseases MONDO:0002661 uveal disease DOID:3508 ICD9:593.3 MONDO:0002674 stricture or kinking of ureter Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix. neoplasm of uterus tumour of uterus uterine tumor uterus neoplasm COHD:197230 DOID:363 ICD10:C55 ICD9:179 MESH:D014594 NCIT:C3552 SCTID:371973000 CA - cancer of uterus cancer of the uterus cancer of uterus malignant neoplasm of the uterus malignant neoplasm of uterus malignant tumor of the uterus malignant tumor of uterus malignant uterine neoplasm malignant uterine tumor malignant uterus neoplasm uterine cancer uterus cancer uterine cancer, NOS MONDO:0002715 uterine cancer An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor. DOID:3672 EFO:0005701 GARD:0007572 ICD10:C49.9 ICDO:8963/3 MESH:D018335 NCIT:C3808 ONCOTREE:MRT Orphanet:69077 UMLS:C0206743 malignant rhabdoid tumor malignant rhabdoid tumour rhabdoid sarcoma rhabdoid tumor rhabdoid cancer MONDO:0002728 rhabdoid tumor A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor. DOID:3674 EFO:1000512 NCIT:C8715 UMLS:C0854917 MRTK kidney rhabdoid tumor malignant rhabdoid tumor of kidney malignant rhabdoid tumor of the kidney renal rhabdoid neoplasm renal rhabdoid tumor rhabdoid neoplasm of kidney rhabdoid neoplasm of the kidney rhabdoid tumor of the kidney rhabdoid tumor of the kidney (RTK) rhabdoid tumour of kidney rhabdoid tumour of the kidney kidney rhabdoid cancer MONDO:0002729 rhabdoid tumor of the kidney A kidney neoplasm that occurs during childhood. DOID:3675 NCIT:C6563 UMLS:C1333003 childhood kidney neoplasm childhood kidney tumor childhood renal neoplasm childhood renal tumor kidney neoplasm kidney neoplasm of childhood pediatric kidney neoplasm pediatric kidney tumor pediatric renal neoplasm pediatric renal tumor MONDO:0002730 childhood kidney neoplasm Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. DOID:3817 NCIT:C26941 UMLS:C0151311 cranial nerve palsy cranial nerve paralysis cranial nerve palsies MONDO:0002782 cranial nerve palsy A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern. DOID:3850 EFO:1000289 NCIT:C7076 UMLS:C0476144 hemangiopericytic neoplasm MONDO:0002789 Editor note: TODO check relationship to spindle cell tumor hemangiopericytic tumor A malignant mesenchymal neoplasm arising from adipocytes. DOID:3939 ICD9:171.9 NCIT:C4501 SCTID:254828009 UMLS:C0346117 adipose tissue cancer cancer of adipose tissue malignant adipose tissue neoplasm malignant adipose tissue tumor malignant lipomatous neoplasm malignant lipomatous tumor malignant neoplasm of adipose tissue malignant neoplasm of the adipose tissue malignant tumor of adipose tissue malignant tumor of the adipose tissue MONDO:0002813 lipomatous cancer A carcinoma involving a adrenal gland. DOID:3950 adrenal gland carcinoma carcinoma of adrenal gland carcinoma of the adrenal gland MONDO:0002814 adrenal carcinoma A disease involving the adrenal cortex. DOID:3952 MESH:D000303 SCTID:129636003 UMLS:C0001614 adrenal cortex disease adrenal cortex disease or disorder disease of adrenal cortex disease or disorder of adrenal cortex disorder of adrenal cortex MONDO:0002816 adrenal cortex disease A malignant neoplasm involving the adrenal gland DOID:3953 GARD:0005751 ICD10:C74 ICD10:C74.9 ICD9:194.0 ICD9:239.7 MESH:D000310 NCIT:C9338 SCTID:127021009 adrenal cancer adrenal gland cancer adrenal neoplasm cancer of adrenal gland malignant adrenal gland neoplasm malignant adrenal gland tumor malignant adrenal neoplasm malignant adrenal tumor malignant neoplasm of adrenal gland malignant neoplasm of the adrenal gland malignant tumor of adrenal gland malignant tumor of the adrenal gland neoplasm of adrenal gland tumor of the adrenal gland MONDO:0002817 adrenal gland cancer A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features. DOID:4014 ICDO:8122/3 NCIT:C4120 UMLS:C0334271 sarcomatoid transitional cell carcinoma transitional cell carcinoma, sarcomatoid transitional cell spindle cell carcinoma transitional spindle cell carcinoma MONDO:0002837 sarcomatoid transitional cell carcinoma A disease involving the cardial valve. DOID:4079 ICD9:424.99 MESH:D006349 NCIT:C45525 SCTID:368009 UMLS:C0018824 cardial valve disease cardial valve disease or disorder disease of cardial valve disease or disorder of cardial valve disorder of cardial valve disorder of heart valve heart valve disorder valvular heart disease valvular heart disorder MONDO:0002869 heart valve disease A disease involving the nail. DOID:4123 ICD10:L60 ICD10:L60.9 ICD9:703 ICD9:703.8 ICD9:703.9 MESH:D009260 SCTID:17790008 UMLS:C0027339 disease of nail disease or disorder of nail disorder of nail nail disease nail disease or disorder MONDO:0002884 nail disease A metabolic disorder characterized by abnormal blood glucose levels. DOID:4194 ICD9:271.8 MESH:D044882 NCIT:C53655 SCTID:126877002 UMLS:C1257958 disorder of glucose metabolism glucose metabolism disorder MONDO:0002908 glucose metabolism disease A disease that involves the pilosebaceous unit. COHD:135033 DOID:421 ICD9:704.8 ICD9:704.9 MESH:D006201 NCIT:C34656 SCTID:201128002 UMLS:C0018500 UMLS:C0554472 disease of pilosebaceous unit disease or disorder of pilosebaceous unit disorder of pilosebaceous unit hair and hair follicle diseases hair disorder hair/hair follicle diseases pilosebaceous unit disease pilosebaceous unit disease or disorder hair disease MONDO:0002917 disease of pilosebaceous unit A malignant neoplasm arising from smooth muscle. DOID:4230 NCIT:C6511 UMLS:C1334620 cancer of smooth muscle cancer of the smooth muscle malignant neoplasm of smooth muscle malignant neoplasm of the smooth muscle malignant smooth muscle neoplasm malignant smooth muscle tumor malignant tumor of smooth muscle malignant tumor of the smooth muscle smooth muscle cancer MONDO:0002924 smooth muscle cancer A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases. DOID:4233 EFO:0008498 ICD9:171.9 ICDO:9044/3 MESH:D018227 NCIT:C3745 ONCOTREE:CCS SCTID:402561003 UMLS:C0206651 adult soft part clear cell sarcoma chordoid sarcoma clear cell sarcoma (morphologic abnormality) clear cell sarcoma - not kidney clear cell sarcoma of soft parts clear cell sarcoma of soft tissue clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney) malignant melanoma of soft tissues malignant melanoma of the soft parts melanoma, malignant, of soft parts malignant melanoma of soft parts MONDO:0002926 clear cell sarcoma A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements. DOID:4236 GARD:0006966 ICDO:8980/3 MESH:D002296 NCIT:C34448 UMLS:C0007140 UMLS:C0206627 UMLS:C1334603 MMMT carcinosarcoma carcinosarcoma, malignant malignant mixed Mullerian tumor malignant mixed mesodermal (mullerian) tumor mesodermal mixed tumor mesodermal mixed tumor (morphologic abnormality) mixed mesodermal (mullerian) tumor mullerian mixed tumor mullerian mixed tumor (morphologic abnormality) mixed Mullerian tumor mixed tumor, Mullerian MONDO:0002928 carcinosarcoma A sarcoma involving a kidney. DOID:4242 ICD9:189.0 NCIT:C4525 SCTID:254918001 UMLS:C0346251 kidney sarcoma renal sarcoma sarcoma of kidney sarcoma of the kidney MONDO:0002930 kidney sarcoma Abnormally high bone density. DOID:4254 ICD10:Q78.2 MESH:D010026 NCIT:C41236 SCTID:49347007 UMLS:C0029464 MONDO:0002933 osteosclerosis A primary or metastatic malignant neoplasm involving the cervix. cervical neoplasm tumor of the cervix uteri uterine cervical neoplasm COHD:198984 DOID:4362 ICD10:C53 ICD10:C53.9 ICD9:180 ICD9:180.8 ICD9:180.9 NCIT:C9311 OMIM:603956 SCTID:363354003 cancer of uterine cervix cervix cancer cervix uteri cancer malignant cervical neoplasm malignant cervical tumor malignant cervix neoplasm malignant cervix tumor malignant cervix uteri neoplasm malignant cervix uteri tumor malignant neoplasm of cervix malignant neoplasm of cervix uteri malignant neoplasm of the cervix malignant neoplasm of the cervix uteri malignant neoplasm of the uterine cervix malignant neoplasm of uterine cervix malignant tumor of cervix malignant tumor of cervix uteri malignant tumor of the cervix malignant tumor of the cervix uteri malignant tumor of the uterine cervix malignant tumor of uterine cervix malignant uterine cervix neoplasm malignant uterine cervix tumor neoplasm of uterine cervix uterine cervix cancer MONDO:0002974 cervical cancer A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis. DOID:438 MESH:D020274 NCIT:C99383 UMLS:C0751871 UMLS:C0751872 autoimmune disease of nervous system autoimmune disease, neurologic autoimmune diseases, nervous system autoimmune diseases, neurologic autoimmune disorders of the nervous system autoimmune disorders, nervous system autoimmune nervous system diseases autoimmune nervous system disorder disease, neurologic autoimmune diseases, neurologic autoimmune immune diseases, nervous system immune disorders, nervous system nervous system autoimmune disease nervous system autoimmune diseases nervous system hypersensitivity reaction type II disease nervous system immune diseases nervous system immune disorders neurologic autoimmune disease neurologic autoimmune diseases MONDO:0002977 autoimmune disease of the nervous system A renal cell carcinoma that occurs during childhood. DOID:4454 NCIT:C6568 UMLS:C1333001 childhood kidney cell carcinoma childhood renal cell carcinoma childhood renal cell carcinoma (disease) pediatric kidney cell carcinoma pediatric renal cell carcinoma pediatric renal cell carcinoma (disease) renal cell cancer renal cell carcinoma (disease) of childhood MONDO:0003007 childhood kidney cell carcinoma An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome. DOID:4455 GARD:0009571 MESH:C536851 NCIT:C39789 SCTID:717736007 hereditary renal cell cancer hereditary renal cell carcinoma hereditary renal cell carcinoma (disease) familial renal carcinoma hereditary renal carcinoma MONDO:0003008 hereditary renal cell carcinoma https://rarediseases.info.nih.gov/diseases/9571/hereditary-renal-cell-carcinoma Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. COHD:195213 DOID:446 ICD10:E26 ICD10:E26.9 ICD9:255.1 ICD9:255.10 MESH:D006929 SCTID:88213004 UMLS:C0020428 Cushing syndrome Cushing's syndrome primary hyperaldosteronism MONDO:0003009 hyperaldosteronism A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells. DOID:4463 ICD10:C64 ICD9:189.0 ICDO:8316/3 NCIT:C4524 Orphanet:319287 SCTID:254916002 UMLS:C0346249 MCRCC cystadenocarcinoma of kidney multilocular clear cell adenocarcinoma multilocular clear cell carcinoma multilocular clear cell renal cell adenocarcinoma multilocular clear cell renal cell carcinoma multilocular cystic clear cell renal cell neoplasm of low malignant potential multilocular cystic renal cell adenocarcinoma multilocular cystic renal cell cancer multilocular cystic renal cell carcinoma renal cystadenocarcinoma multilocular cystic renal neoplasm of low malignant potential MONDO:0003010 multilocular clear cell renal cell carcinoma A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain. DOID:4472 ICD10:C64 ICDO:0000/0 NCIT:C39807 ONCOTREE:MTSCC Orphanet:319322 SCTID:764990003 UMLS:C1513719 UMLS:CN203939 carcinoma, renal, tubular, malignant mucinous tubular and spindle cell carcinoma of the kidney mucinous tubular and spindle cell renal carcinoma renal mucinous tubular spindle cell carcinoma MONDO:0003011 mucinous tubular and spindle renal cell carcinoma A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade. DOID:4473 ICDO:8318/3 NCIT:C27893 ONCOTREE:SRCC UMLS:C1266043 RCC w/ sarcomatoid features renal cell carcinoma with sarcomatoid features renal cell carcinoma, spindle cell sarcomatoid renal cell cancer sarcomatoid renal cell carcinoma SRCC MONDO:0003012 sarcomatoid renal cell carcinoma A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue. MONDO:0002393 DOID:2691 DOID:461 ICD10:D21 ICDO:8895/0 MESH:D009214 NCIT:C4882 benign muscle neoplasm benign muscle tumor benign neoplasm of muscle benign neoplasm of the muscle benign tumor of muscle benign tumor of the muscle muscle neoplasm muscle tissue neoplasm myoma myomatous neoplasm myomatous tumor neoplasm of muscle muscle benign neoplasm MONDO:0003061 benign muscle neoplasm A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern. DOID:4630 ICDO:8121/1 NCIT:C4118 UMLS:C0334269 inverted transitional cell papilloma inverted transitional papilloma transitional papilloma, inverted MONDO:0003064 inverted transitional cell papilloma Neuropathy resulting from uremia. DOID:4675 ICD9:357.4 NCIT:C27055 SCTID:11659006 UMLS:C0268708 MONDO:0003084 uremic neuropathy A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult. DOID:4772 ICD9:236.99 MESH:D018201 SCTID:307604008 UMLS:C0206628 mesoblastic nephroma mesoblastic nephroma (morphologic abnormality) MONDO:0003130 mesoblastic nephroma Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes. DOID:4777 NCIT:C35706 UMLS:C0546345 MONDO:0003133 exudative glomerulonephritis A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis. DOID:4778 ICD9:583.0 NCIT:C35281 SCTID:441815006 UMLS:C0235618 MONDO:0003134 proliferative glomerulonephritis Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia. DOID:4779 NCIT:C35707 UMLS:C0238143 MONDO:0003135 focal embolic glomerulonephritis Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function. DOID:4780 NCIT:C35798 UMLS:C1332309 anti-GBM antibody disease anti-glomerular basement Membrane antibody disease MONDO:0003136 anti-basement membrane glomerulonephritis Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure. DOID:4781 NCIT:C35799 UMLS:C0859036 MONDO:0003137 diffuse glomerulonephritis A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis. DOID:4782 NCIT:C35801 SCTID:123609007 UMLS:C1263744 MONDO:0003138 subacute glomerulonephritis Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure. DOID:4783 GARD:0009580 NCIT:C35445 SCTID:35546006 UMLS:C0221238 Mesangioproliferative glomerulonephritis glomerulonephritis - mesangial proliferative mesangial proliferative GN MONDO:0003139 mesangial proliferative glomerulonephritis https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function. DOID:4784 ICD9:583.89 NCIT:C35800 SCTID:123752003 UMLS:C0744421 immune Complex glomerulonephritis MONDO:0003140 immune-complex glomerulonephritis A disease involving the male reproductive system. DOID:48 ICD10:N40.N51 ICD10:N50.9 ICD9:600-608.99 ICD9:608.9 MESH:D005832 NCIT:C27019 SCTID:363194005 Male reproductive system disease Male reproductive system disorder disease of male reproductive system disease or disorder of male reproductive system disorder of Male reproductive system disorder of male reproductive system male reproductive disease male reproductive system disease male reproductive system disease or disorder MONDO:0003150 male reproductive system disease A carcinoma that arises from glandular epithelial cells of the renal pelvis DOID:4918 NCIT:C6143 UMLS:C1335748 adenocarcinoma of kidney pelvis adenocarcinoma of renal pelvis adenocarcinoma of the kidney pelvis adenocarcinoma of the renal pelvis kidney pelvis adenocarcinoma kidney renal pelvis adenocarcinoma renal pelvis adenocarcinoma MONDO:0003205 renal pelvis adenocarcinoma A disease involving the thyroid gland. COHD:141253 DOID:50 EFO:1000627 ICD10:E00-E07 ICD10:E00.E07 ICD10:E07.9 ICD9:240-246.99 ICD9:246.8 ICD9:246.9 MESH:D013959 NCIT:C26893 SCTID:14304000 UMLS:C0040128 Wikipedia:Thyroid_disease disease of thyroid gland disease or disorder of thyroid gland disorder of thyroid gland thyroid disease thyroid gland disease thyroid gland disease or disorder thyroid gland diseases thyroid gland disorder thyroid gland disorders MONDO:0003240 thyroid gland disease DOID:5088 mixed epithelial stromal tumour MONDO:0003272 mixed epithelial stromal tumor A primary or metastatic malignant neoplasm affecting the tissues of the thorax. thorax neoplasm tumor of thorax DOID:5093 ICD10:C76.1 ICD9:195.1 NCIT:C3576 SCTID:188361007 UMLS:C0153661 cancer of thoracic segment of trunk malignant neoplasm of the thorax malignant neoplasm of thoracic segment of trunk malignant neoplasm of thorax malignant thoracic neoplasm malignant thoracic segment of trunk neoplasm malignant thoracic tumor malignant tumor of the thorax malignant tumor of thorax thoracic segment of trunk cancer thoracic tumor thorax cancer MONDO:0003274 thoracic cancer A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. DOID:5132 NCIT:C4482 SCTID:254767008 UMLS:C0346064 cutaneous (skin) leiomyoma cutaneous leiomyoma leiomyoma cutis leiomyoma of skin leiomyoma of the skin leiomyoma of zone of skin skin leiomyoma zone of skin leiomyoma MONDO:0003291 leiomyoma cutis A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body. DOID:5138 ICDO:8890/1 MESH:D018231 NCIT:C3748 UMLS:C0206654 leiomyomatosis leiomyomatosis, no ICD-O subtype leiomyomatosis, no ICD-O subtype (morphologic abnormality) MONDO:0003295 leiomyomatosis Wilms tumor of the kidney characterized by the absence of nuclear anaplasia. NCIT:C6951 UMLS:C1335062 Nonanaplastic kidney Wilms tumor Nonanaplastic renal Wilm's tumor Nonanaplastic renal Wilms tumor Nonanaplastic renal Wilms' tumor nonanaplastic renal Wilms tumor MONDO:0003316 nonanaplastic kidney Wilms tumor Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor. DOID:5178 NCIT:C38158 UMLS:C1334705 metachronous Wilms tumor metachronous Wilms tumor of the kidney metachronous Wilms' tumor MONDO:0003317 metachronous kidney Wilms' tumor Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern). DOID:5179 NCIT:C9149 UMLS:C0279611 Mixed cell type Wilms tumor mixed cell type kidney Wilms tumor mixed cell type kidney adenosarcoma mixed cell type nephroblastoma mixed cell type renal Wilm's tumor mixed cell type renal Wilms tumor mixed cell type renal Wilms' tumor mixed cell type renal adenosarcoma MONDO:0003318 mixed cell type kidney Wilms' tumor Wilms tumor of the kidney characterized by the predominance of the blastema component. DOID:5182 NCIT:C9147 UMLS:C0279609 blastema predominant Wilms tumor blastema predominant kidney Wilms tumor blastema predominant kidney adenosarcoma blastema predominant nephroblastoma blastema predominant renal Wilm's tumor blastema predominant renal Wilms tumor blastema predominant renal Wilms' tumor blastema predominant renal adenosarcoma blastema predominant kidney Wilms' tumor MONDO:0003320 blastema predominant kidney Wilms tumor Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0) DOID:5183 NCIT:C8496 OMIMPS:194070 UMLS:C0677779 familial Wilms tumor familial Wilms' tumor hereditary Wilms tumor hereditary Wilms' tumor hereditary kidney adenosarcoma hereditary nephroblastoma hereditary renal adenosarcoma WT1 MONDO:0003321 hereditary Wilms tumor Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes. DOID:5189 NCIT:C9146 UMLS:C0279608 epithelial predominant Wilms tumor epithelial predominant kidney Wilms tumor epithelial predominant kidney adenosarcoma epithelial predominant nephroblastoma epithelial predominant renal Wilm's tumor epithelial predominant renal Wilms tumor epithelial predominant renal Wilms' tumor epithelial predominant renal adenosarcoma MONDO:0003322 epithelial predominant Wilms' tumor Blockage of the normal flow of contents of the urinary tract. COHD:194406 DOID:5200 ICD10:N13.9 ICD9:599.6 ICD9:599.60 NCIT:C3675 SCTID:7163005 UMLS:C0178879 obstructive uropathy urinary obstruction MONDO:0003330 urinary tract obstruction Vasculitis affecting the blood vessels of the brain and/or spinal cord. DOID:525 MESH:D020293 NCIT:C84622 UMLS:C0751878 central nervous system vasculitis vasculitis of central nervous system MONDO:0003346 central nervous system vasculitis An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells. DOID:5287 NCIT:C6183 UMLS:C1335743 kidney leiomyosarcoma leiomyosarcoma of kidney leiomyosarcoma of the kidney renal leiomyosarcoma MONDO:0003373 kidney leiomyosarcoma A disease involving the pituitary gland. COHD:23986 DOID:53 ICD9:253.1 ICD9:253.8 ICD9:253.9 MESH:D010900 NCIT:C26854 SCTID:399244003 disease of pituitary gland disease or disorder of pituitary gland disorder of pituitary gland pituitary disease pituitary gland disease pituitary gland disease or disorder pituitary gland disorder MONDO:0003381 pituitary gland disease A disease involving the eyelid. DOID:530 ICD10:H00 ICD10:H02.9 ICD9:374.89 ICD9:374.9 MESH:D005141 NCIT:C26768 SCTID:60113004 disease of eyelid disease or disorder of eyelid disorder of eyelid eyelid disease eyelid disease or disorder eyelid disorder MONDO:0003382 eyelid disease A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells. DOID:5368 NCIT:C40254 UMLS:C1516419 Wolffian duct adenocarcinoma cervical mesonephric adenocarcinoma mesonephric duct adenocarcinoma MONDO:0003410 Wolffian duct adenocarcinoma A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures. COHD:375800 DOID:543 HP:0001332 ICD10:G24 ICD10:G24.9 ICD9:333.90 MESH:D020821 NCIT:C34563 SCTID:15802004 dystonia dystonic disease dystonic disorder dystonia disorder dystonia disorders MONDO:0003441 dystonic disorder A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003 DOID:5433 NCIT:C27883 UMLS:C1335329 inverted papilloma of urinary tract papillary transitional cell neoplasm of the urinary tract papillary urothelial neoplasm urinary tract inverted papilloma urinary tract papillary transitional cell neoplasm urothelium papillary epithelial neoplasm urinary tract papillary transitional cell benign neoplasm MONDO:0003443 papillary urothelial neoplasm A squamous cell carcinoma that involves the renal pelvis. DOID:5534 NCIT:C7732 UMLS:C0238409 epidermoid carcinoma of kidney pelvis epidermoid carcinoma of renal pelvis epidermoid carcinoma of the kidney pelvis epidermoid carcinoma of the renal pelvis kidney pelvis epidermoid carcinoma kidney pelvis squamous cell carcinoma kidney renal pelvis squamous cell cancer renal pelvis epidermoid carcinoma renal pelvis squamous cell cancer renal pelvis squamous cell carcinoma squamous cell carcinoma of kidney pelvis squamous cell carcinoma of renal pelvis squamous cell carcinoma of the kidney pelvis squamous cell carcinoma of the renal pelvis MONDO:0003497 renal pelvis squamous cell carcinoma Sudden onset pyelonephritis. COHD:4280571 DOID:559 ICD10:N10 ICD9:590.1 NCIT:C123215 SCTID:36689008 UMLS:C0520575 pyelonephritis, acute MONDO:0003529 acute pyelonephritis A disease involving the oculomotor nerve. DOID:562 MESH:D015840 NCIT:C27598 SCTID:60750009 UMLS:C0271353 disease of oculomotor nerve disease or disorder of oculomotor nerve disorder of oculomotor nerve oculomotor nerve disease oculomotor nerve disease or disorder oculomotor nerve disorder MONDO:0003546 third cranial nerve disease A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. COHD:441848 DOID:5656 ICD10:G52.9 ICD9:352.9 MESH:D003389 NCIT:C26733 SCTID:73013002 UMLS:C0010266 cranial nerve disease cranial nerve disorder cranial neuron projection bundle disease cranial neuron projection bundle disease or disorder cranial neuropathy disease of cranial neuron projection bundle disease or disorder of cranial neuron projection bundle disorder of cranial nerve disorder of cranial neuron projection bundle MONDO:0003569 cranial nerve neuropathy A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis. DOID:5699 NCIT:C6185 UMLS:C1335745 kidney liposarcoma liposarcoma of kidney liposarcoma of the kidney renal liposarcoma MONDO:0003591 kidney liposarcoma A disease involving the peripheral nervous system. DOID:574 ICD10:G64 ICD9:350-359.99 ICD9:356.9 MESH:D010523 NCIT:C27580 SCTID:42658009 PNS (peripheral nervous system) diseases PNS disease PNS diseases disease of peripheral nervous system disease or disorder of peripheral nervous system disorder of peripheral nervous system disorder of the peripheral nervous system peripheral nervous disease peripheral nervous system disease peripheral nervous system disease or disorder peripheral nervous system disorder peripheral nervous system disorders nerve disease, peripheral nerve diseases, peripheral neuropathy, peripheral peripheral Neuropathies peripheral nerve disease peripheral nerve diseases peripheral neuropathy peripheral nerve disease peripheral neuropathy MONDO:0003620 peripheral nervous system disease The presence of abnormal amounts of protein in the urine. COHD:75650 DOID:576 ICD10:R80 ICD10:R80.9 ICD9:791.0 MESH:D011507 MONDO:0003634 Consider obsoleting / use HPO proteinuria Urolithiasis in which the composition of the stones is predominantly urate. COHD:80070 DOID:580 ICD9:274.11 ICD9:583.9 NCIT:C123037 SCTID:236496000 UMLS:C0341712 UMLS:C0403719 uric acid nephrolithiasis uric acid urolithiasis MONDO:0003652 acute urate nephropathy A laboratory test result which indicates free hemoglobin in the urine. DOID:582 ICD10:R82.3 ICD9:791.2 MESH:D006456 UMLS:C0019048 MONDO:0003656 May be obsoleted as it represents a finding hemoglobinuria Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. DOID:583 EFO:0005558 ICD10:D55-D59 ICD10:D55.D59 MESH:D000743 NCIT:C34376 SCTID:61261009 anemia hemolytic anemia, hemolytic hemolytic anemia MONDO:0003664 hemolytic anemia A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. COHD:28396 DOID:589 GARD:0006167 ICD10:D58.9 ICD9:282 ICD9:282.9 MESH:D000745 NCIT:C34379 SCTID:42601008 congenital hemolytic anemia hereditary hemolytic anemia anemia hemolytic congenital MONDO:0003689 familial hemolytic anemia https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia A papillary transitional cell carcinoma that arises from the renal pelvis. DOID:5973 NCIT:C6148 UMLS:C1377909 kidney pelvis papillary carcinoma papillary carcinoma of kidney pelvis papillary carcinoma of renal pelvis papillary carcinoma of the kidney pelvis papillary carcinoma of the renal pelvis renal pelvis papillary carcinoma renal pelvis papillary urothelial carcinoma MONDO:0003716 renal pelvis papillary urothelial carcinoma A papillary tumor originating in the renal pelvis. DOID:5975 NCIT:C8603 UMLS:C0853688 papillary neoplasm of renal pelvis papillary neoplasm of the renal pelvis papillary tumor of renal pelvis papillary tumor of the renal pelvis renal pelvis papillary tumor renal pelvis papillary urothelial neoplasm MONDO:0003717 renal pelvis papillary tumor A neoplasm (disease) that involves the renal pelvis. DOID:5977 ICD9:239.5 NCIT:C8404 SCTID:126881002 UMLS:C0346260 kidney pelvis neoplasm kidney pelvis tumor neoplasm of kidney pelvis neoplasm of renal pelvis neoplasm of the kidney pelvis neoplasm of the renal pelvis renal pelvis neoplasm renal pelvis neoplasm (disease) renal pelvis tumor tumor of kidney pelvis tumor of renal pelvis tumor of the kidney pelvis tumor of the renal pelvis MONDO:0003719 renal pelvis neoplasm A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. DOID:5982 NCIT:C7726 UMLS:C0238208 fibrosarcoma of kidney fibrosarcoma of the kidney kidney fibrosarcoma kidney fibrosarcoma (disease) renal fibrosarcoma MONDO:0003720 kidney fibrosarcoma An osteosarcoma arising from the kidney. DOID:5983 NCIT:C6181 UMLS:C1335747 kidney extraskeletal osteosarcoma kidney osteogenic sarcoma kidney osteosarcoma kidney osteosarcoma (disease) osteogenic sarcoma of kidney osteogenic sarcoma of the kidney osteosarcoma of kidney osteosarcoma of the kidney renal extraskeletal osteosarcoma renal osteogenic sarcoma renal osteosarcoma MONDO:0003721 kidney osteogenic sarcoma A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. DOID:6050 ICD10:K22.9 ICD9:530 ICD9:530.2 ICD9:530.20 ICD9:530.9 MESH:D004935 NCIT:C3027 SCTID:30811009 SCTID:37657006 UMLS:C0014852 disease of esophagus disease or disorder of esophagus disorder of esophagus esophageal disorder esophagus disease esophagus disease or disorder esophageal ulcer MONDO:0003749 esophageal disease DOID:6065 NCIT:C39854 UMLS:C1518361 non-invasive transitional cell neoplasm of the urinary tract non-invasive urothelial neoplasm MONDO:0003755 urinary tract non-invasive transitional cell neoplasm Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. COHD:192606 DOID:607 GARD:0007327 ICD10:G82.2 ICD10:G82.20 ICD9:344.1 MESH:D010264 NCIT:C50687 SCTID:60389000 UMLS:C0030486 paraplegia, lower severe or complete loss of motor function in the lower extremities and lower portions of the trunk MONDO:0003757 paraplegia https://rarediseases.info.nih.gov/diseases/7327/paraplegia A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue. DOID:6118 NCIT:C6187 UMLS:C1335751 inverted papilloma of kidney pelvis inverted papilloma of renal pelvis inverted papilloma of the kidney pelvis inverted papilloma of the renal pelvis kidney pelvis inverted papilloma renal pelvis inverted papilloma MONDO:0003776 renal pelvis inverted papilloma A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma. DOID:6119 NCIT:C4528 UMLS:C1514844 renal pelvis urothelial papilloma MONDO:0003777 renal pelvis urothelial papilloma A disorder in which the immune system is unable to mount an adequate immune response. DOID:612 ICD10:D84.9 ICD9:279.3 KEGG:05340 MESH:D007153 Orphanet:101997 SCTID:58606001 UMLS:C0021051 UMLS:C0398686 hypoimmunity immune deficiency disorder immunodeficiency syndrome antibody deficiency syndrome antibody deficiency syndromes deficiency syndrome, antibody deficiency syndrome, immunologic deficiency syndrome, immunological deficiency syndromes, antibody deficiency syndromes, immunologic deficiency syndromes, immunological immunologic deficiency syndrome immunological deficiency syndrome immunological deficiency syndromes primary immunodeficiency syndrome, antibody deficiency syndrome, immunologic deficiency syndrome, immunological deficiency syndromes, antibody deficiency syndromes, immunologic deficiency syndromes, immunological deficiency MONDO:0003778 primary immunodeficiency disease A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. DOID:613 NCIT:C27145 SCTID:402792003 UMLS:C1274233 T-cell immunodeficiency T-lymphocyte deficiency T-lymphocyte deficiency (finding) T-lymphocyte immunodeficiency T lymphocyte deficiency MONDO:0003780 T-cell immunodeficiency A laboratory test result indicating a decreased number of white blood cells in the peripheral blood. COHD:435224 DOID:615 EFO:0004233 ICD10:D72.819 ICD9:288.50 MESH:D007970 NCIT:C26816 SCTID:84828003 UMLS:C0023530 White blood cell decreased leucopenia leukocytopenia MONDO:0003785 leukopenia A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene. DOID:6163 NCIT:C9222 SCTID:715561008 UMLS:C0879257 Hereditary Papillary renal cell cancer familial renal papillary carcinoma hereditary kidney papillary carcinoma hereditary papillary carcinoma of kidney hereditary papillary carcinoma of the kidney hereditary papillary renal carcinoma hereditary papillary renal cell carcinoma MONDO:0003789 hereditary papillary renal cell carcinoma A disease involving the aortic valve. DOID:62 ICD9:395 ICD9:424.1 NCIT:C78650 UMLS:C1260873 aortic valve disease aortic valve disease or disorder aortic valve disorder disease of aortic valve disease or disorder of aortic valve disorder of aortic valve MONDO:0003803 aortic valve disease A disease involving the articular cartilage of joint. DOID:6227 ICD9:718.0 ICD9:718.00 ICD9:718.02 SCTID:53417006 UMLS:C0158073 articular cartilage disorder articular cartilage of joint disease articular cartilage of joint disease or disorder disease of articular cartilage of joint disease or disorder of articular cartilage of joint disorder of articular cartilage of joint articular cartilage disorder involving ankle and foot articular cartilage disorder involving forearm articular cartilage disorder involving hand articular cartilage disorder involving multiple sites articular cartilage disorder involving pelvic region and thigh articular cartilage disorder involving shoulder region articular cartilage disorder involving upper arm articular cartilage disorder of ankle and/or foot articular cartilage disorder of forearm articular cartilage disorder of hand articular cartilage disorder of multiple sites articular cartilage disorder of shoulder region articular cartilage disorder of the pelvic region and thigh articular cartilage disorder of upper arm disorder of articular cartilage MONDO:0003816 articular cartilage disease An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome. DOID:6244 NCIT:C8960 UMLS:C0879606 familial renal oncocytoma hereditary kidney oncocytoma hereditary renal oncocytoma MONDO:0003824 hereditary kidney oncocytoma A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions. DOID:6245 EFO:1000315 GARD:0008477 MESH:C537750 NCIT:C4526 ONCOTREE:ROCY SCTID:254922006 UMLS:C0346255 kidney oncocytic neoplasm kidney oncocytoma oncocytoma of kidney oncocytoma of the kidney renal epithelial oncocytic neoplasm renal epithelial oncocytic tumor renal oncocytoma ROCY oncocytoma kidney oncocytoma renal MONDO:0003825 kidney oncocytoma https://rarediseases.info.nih.gov/diseases/8477/renal-oncocytoma A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei. DOID:6257 NCIT:C3687 UMLS:C1518879 chromophil adenoma of the kidney papillary adenoma of the kidney renal papillary adenoma MONDO:0003829 chromophil adenoma of the kidney DOID:6258 NCIT:C39809 UMLS:C1519706 type 1 papillary adenoma of the kidney type 1 renal papillary adenoma MONDO:0003830 type 1 papillary adenoma of the kidney DOID:6259 NCIT:C39810 UMLS:C1519710 type 2 papillary adenoma of the kidney type 2 renal papillary adenoma MONDO:0003831 type 2 papillary adenoma of the kidney A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited. DOID:626 ICD10:D80-D89 ICD10:D84.1 ICD9:279.8 NCIT:C4691 Orphanet:459345 SCTID:24743004 UMLS:C0272242 complement activation disease complement deficiency complement deficiency disease disorder of complement activation immunodeficiency due to a complement cascade component deficiency MONDO:0003832 complement deficiency A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. genetic condition genetic disease genetic disorder DOID:630 EFO:0000508 ICD9:799.89 MESH:D030342 NCIT:C3101 SCTID:32895009 UMLS:C0019247 genetic condition genetic disorder hereditary disease hereditary disease or disorder hereditary diseases inherited disease inherited genetic disease molecular disease familial disorder inborn disorder MONDO:0003847 Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish. Mendelian disease A disease involving the connective tissue. COHD:253549 DOID:65 MESH:D003240 NCIT:C26729 SCTID:105969002 UMLS:C0009782 connective tissue disease connective tissue disease or disorder connective tissue diseases connective tissue disorder connective tissue disorders disease of connective tissue disease or disorder of connective tissue disease, connective tissue disorder of connective tissue primary disorder of connective tissue tissue disease, connective MONDO:0003900 connective tissue disease An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity. DOID:654 ICD9:278.8 MESH:D044343 SCTID:302872003 UMLS:C1257763 MONDO:0003916 overnutrition A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.) MONDO:0005248 DOID:0050891 DOID:656 EFO:0003104 GARD:0005745 HP:0008196 HP:0008256 ICDO:8370/0 MESH:D018246 NCIT:C9003 ONCOTREE:ACA Orphanet:463 SCTID:302826002 UMLS:C0206667 adenoma of adrenal cortex adenoma of adrenal gland adenoma of the adrenal cortex adenoma of the adrenal gland adenoma, adrenocortical, benign adrenal adenoma adrenal cortex adenoma adrenal cortical adenoma adrenal gland adenoma adrenocortical adenoma benign adenoma of adrenal gland benign adenoma of the adrenal gland benign adrenal adenoma benign adrenal gland adenoma cortical cell adenoma adrenal incidentaloma MONDO:0003924 adrenal cortex adenoma A disease involving the muscle tissue. DOID:66 disease of muscle tissue disease or disorder of muscle tissue disorder of muscle tissue muscle tissue disease muscle tissue disease or disorder MONDO:0003939 muscle tissue disease DOID:6605 NCIT:C27888 UMLS:C1333062 classic variant of chromophobe renal cell carcinoma MONDO:0003941 classic variant of chromophobe renal cell carcinoma DOID:6606 NCIT:C27889 UMLS:C1333405 eosinophilic variant of chromophobe renal cell carcinoma MONDO:0003942 eosinophilic variant of chromophobe renal cell carcinoma An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features. DOID:6844 NCIT:C6186 UMLS:C1335752 infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant kidney pelvis sarcomatoid transitional cell carcinoma renal pelvis sarcomatoid transitional cell carcinoma sarcomatoid transitional cell carcinoma of kidney pelvis sarcomatoid transitional cell carcinoma of renal pelvis sarcomatoid transitional cell carcinoma of the kidney pelvis sarcomatoid transitional cell carcinoma of the renal pelvis MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma NCIT:C39879 UMLS:C1512750 infiltrating renal pelvis and ureter transitional cell carcinoma infiltrating renal pelvis and ureter urothelial carcinoma infiltrating ureter transitional cell carcinoma MONDO:0004010 infiltrating renal pelvis/ureter urothelial carcinoma Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth. DOID:693 EFO:1001304 MESH:D003744 NCIT:C34529 SCTID:26597004 UMLS:C0011351 enamel hypoplasia MONDO:0004038 dental enamel hypoplasia A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium. DOID:6933 ICDO:8120/1 NCIT:C3842 ONCOTREE:UPA bladder papilloma transitional cell papilloma of bladder urinary bladder urothelial papilloma urothelial papilloma bladder transitional cell papilloma uPA MONDO:0004041 urothelial papilloma Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. DOID:700 GARD:0007048 MESH:D028361 Orphanet:68380 mitochondrial disease mitochondrial genetic disorders mitochondrial metabolism disease MONDO:0004069 inborn mitochondrial metabolism disorder https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes. DOID:707 GARD:0005877 MESH:D016393 NCIT:C27907 B-cell lymphocytic neoplasm B-cell neoplasm B-cell lymphoma lymphoma, B-cell MONDO:0004095 B-cell neoplasm https://rarediseases.info.nih.gov/diseases/5877/B-cell-lymphoma Anemia in which the red blood cell volume is normal. DOID:720 ICD9:285.8 NCIT:C35142 SCTID:300980002 UMLS:C0085577 anemia normocytic normocytic Anemia MONDO:0004139 normocytic anemia Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics. COHD:196377 DOID:730 ICD9:223.81 NCIT:C3619 SCTID:92466006 benign neoplasm of the urethra benign neoplasm of urethra benign tumor of the urethra benign tumor of urethra benign urethra neoplasm benign urethra tumor benign urethral neoplasm benign urethral tumor neoplasm of urethra neoplasm. urethra urethra benign neoplasm benign urethral neoplasm NOS urethral benign neoplasm MONDO:0004177 benign urethral neoplasm A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma. neoplasm of urinary system tumor of the urinary system tumor of urinary tract urinary tract neoplasm COHD:78706 DOID:731 ICD9:223.89 ICD9:223.9 MESH:D014571 NCIT:C4893 SCTID:92468007 benign neoplasm of the urinary tract benign neoplasm of urinary tract benign tumor of the urinary tract benign tumor of urinary tract benign urinary system neoplasm benign urinary tract neoplasm benign urinary tract tumor renal system benign neoplasm urinary system benign neoplasm MONDO:0004180 benign urinary system neoplasm A disease involving the urethra. DOID:732 ICD10:N36.9 MESH:D014522 NCIT:C26903 SCTID:4985009 UMLS:C0041969 disease of urethra disease or disorder of urethra disorder of urethra urethra disease urethra disease or disorder urethra disorder MONDO:0004184 urethral disease A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. DOID:7333 NCIT:C7415 UMLS:C1336892 nephrogenic adenoma of the urinary bladder urinary bladder nephrogenic adenoma MONDO:0004190 nephrogenic adenoma of urinary bladder So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria. DOID:7334 NCIT:C7413 UMLS:C0334039 nephrogenic adenoma MONDO:0004191 nephrogenic adenoma The loss of muscle tissue due to inactivity or disease. DOID:767 ICD9:728.2 MESH:D009133 SCTID:88092000 amyotrophia muscle wasting wasting - muscle MONDO:0004323 muscular atrophy A disease or disorder that involves the digestive system. COHD:4201745 DOID:77 EFO:0000405 ICD10:K92.9 ICD9:520-579.99 ICD9:V47.3 MESH:D005767 NCIT:C2990 SCTID:53619000 alimentary system disease digestive disease digestive system disease digestive system disease or disorder digestive system disorder disease of digestive system disease or disorder of digestive system disorder of digestive system gastroenterological system disease gastroenterological system disorder gastroenteropathy gastrointestinal disease gastrointestinal disorder gastrointestinal system disease gastrointestinal system disorder git disease stomach or intestinal disorder MONDO:0004335 digestive system disease A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present. DOID:7762 NCIT:C6566 UMLS:C1332983 childhood multilocular cystic kidney neoplasm childhood multilocular cystic kidney tumor childhood multilocular cystic renal neoplasm childhood multilocular cystic renal tumor pediatric multilocular cystic kidney neoplasm pediatric multilocular cystic kidney tumor pediatric multilocular cystic renal neoplasm pediatric multilocular cystic renal tumor benign multilocular cystic renal tumor MONDO:0004356 childhood multilocular cystic kidney neoplasm DOID:782 ICD10:N15.9 ICD9:590 ICD9:590.9 MONDO:0004369 renal infectious disease Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min. COHD:193782 DOID:783 ICD9:585.6 NCIT:C9439 SCTID:46177005 ESRD ESRD, end stage renal disease chronic kidney disease, stage 5 disease (ESRD), end stage renal end stage kidney disease end stage kidney failure end stage renal disease end stage renal disease (ESRD) renal disease (ESRD), end stage renal disease, end stage MONDO:0004375 end stage renal failure Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. DOID:7998 EFO:0009189 ICD10:E05.9 ICD9:242.90 MESH:D006980 NCIT:C3123 SCTID:34486009 overactive thyroid MONDO:0004425 hyperthyroidism A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present. DOID:8082 NCIT:C39815 UMLS:C1516474 cellular congenital mesoblastic nephroma MONDO:0004454 cellular congenital mesoblastic nephroma A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. DOID:8083 NCIT:C39814 UMLS:C1516475 classic congenital mesoblastic nephroma MONDO:0004455 classic congenital mesoblastic nephroma A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. DOID:8109 NCIT:C7416 UMLS:C1336889 nephrogenic adenoma of urethra urethra nephrogenic adenoma urethral nephrogenic adenoma MONDO:0004464 nephrogenic adenoma of the urethra An angiomyolipoma occurring in childhood. DOID:8410 NCIT:C6565 UMLS:C1333000 childhood renal angiomyolipoma kidney angiomyolipoma of childhood pediatric kidney angiomyolipoma pediatric renal angiomyolipoma MONDO:0004554 childhood kidney angiomyolipoma An angiomyolipoma arising from the kidney. DOID:8411 EFO:1000312 NCIT:C3888 ONCOTREE:RAML SCTID:254921004 UMLS:C0241961 angiomyolipoma of kidney angiomyolipoma of the kidney kidney angiomyolipoma renal angiomyolipoma RAML MONDO:0004555 kidney angiomyolipoma Degeneration of the retina. DOID:8466 MESH:D012162 NCIT:C34979 SCTID:95695004 degeneration of retina retina degeneration retina, Degeneration Of MONDO:0004580 retinal degeneration Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism. COHD:4307356 DOID:8515 ICD10:I27.81 ICD10:I27.9 MESH:D011660 SCTID:274096000 UMLS:C0034072 cardiopulmonary disease cor pulmonale pulmonary heart disease disease, pulmonary heart diseases, pulmonary heart heart disease, pulmonary heart diseases, pulmonary pulmonary heart diseases MONDO:0004596 cor pulmonale A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion. CIS COHD:433435 DOID:8719 ICD10:D09.9 ICD9:230-234.99 ICD9:234.8 ICD9:234.9 ICDO:8010/2 MESH:D002278 NCIT:C2917 SCTID:109355002 UMLS:C0007099 carcinoma in situ carcinoma, in situ, malignant epithelial tumor, in situ, malignant intraepithelial carcinoma non-invasive carcinoma stage 0 disease MONDO:0004647 Editor note: check pre-malignant vs malignant in situ carcinoma An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. COHD:255891 DOID:8857 ICD10:L93 ICD10:L93.0 ICD9:695.4 NCIT:C27153 SCTID:200936003 UMLS:C0409974 lupus lupus erythematosus MONDO:0004670 lupus erythematosus COHD:441264 DOID:8925 ICD10:D69.4 ICD10:D69.49 ICD9:287.3 ICD9:287.30 ICD9:287.39 SCTID:267534000 UMLS:C0701157 MONDO:0004680 primary thrombocytopenia An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. metal metabolism disorder DOID:896 MESH:D008664 UMLS:C0025534 metal metabolism, inborn error MONDO:0004689 inborn metal metabolism disorder Autosomal dominant form of polycystic kidney disease. DOID:898 EFO:1001496 GARD:0010413 ICD10:Q61.3 ICD9:753.12 ICD9:753.13 MESH:D016891 NCIT:C84578 Orphanet:730 SCTID:765330003 UMLS:C0085413 UMLS:CN119611 ADPKD polycystic kidney disease, autosomal dominant congenital biliary ectasias polycystic kidney and hepatic disease 1 MONDO:0004691 autosomal dominant polycystic kidney disease A carcinoma in situ involving a kidney. DOID:9234 ICD10:D09.1 ICD9:233.9 SCTID:92624000 UMLS:C0686172 carcinoma in situ of kidney kidney in situ carcinoma stage 0 kidney carcinoma MONDO:0004732 kidney carcinoma in situ An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. DOID:9252 GARD:0006770 ICD10:E72.9 ICD9:270 ICD9:270.9 MESH:D000592 SCTID:42930003 inborn cellular amino acid metabolic process disorder inborn error of amino acid metabolism inborn error of cellular amino acid metabolic process inborn errors of amino acid metabolism rare inborn error of cellular amino acid metabolic process amino acid metabolic disorder amino acid metabolism, inborn errors inborn amino acid metabolism disorder MONDO:0004736 inherited amino acid metabolic disorder An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. DOID:9263 GARD:0010770 HP:0002156 ICD10:E72.11 NCIT:C84765 SCTID:11282001 UMLS:C0019880 homocystinuria CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency MONDO:0004737 homocystinuria (disease) An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. DOID:9275 ICD10:E70.21 ICD9:270.2 MESH:D020176 NCIT:C98640 OMIMPS:276700 SCTID:190694001 UMLS:C0268483 MONDO:0004741 tyrosinemia A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse. COHD:133861 DOID:9296 EFO:0003959 HP:0410030 ICD10:Q36 ICD10:Q36.9 ICD9:749.1 ICD9:749.10 ICD9:749.11 MESH:D002971 NCIT:C87175 SCTID:80281008 cheiloschisis cleft lip cleft lip, unilateral, complete complete unilateral cleft lip hare lip labium leporinum MONDO:0004747 cleft lip (disease) A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. COHD:30968 DOID:9409 GARD:0011934 ICD10:E23.2 ICD9:253.5 MESH:D003919 NCIT:C43263 SCTID:15771004 UMLS:C0011848 MONDO:0004782 diabetes insipidus A disease involving leukocytes. DOID:9500 ICD10:D72.9 ICD9:288 ICD9:288.9 MESH:D007960 SCTID:54097007 UMLS:C0023510 disease of leukocyte disease or disorder of leukocyte disorder of leukocyte disorder, leukocyte disorders, leukocyte leukocyte disease leukocyte disease or disorder leukocyte disorder white blood cell disorder MONDO:0004805 leukocyte disease COHD:74080 DOID:9617 ICD10:R80.2 ICD9:593.6 UMLS:C0232867 postural albuminuria MONDO:0004838 orthostatic proteinuria DOID:9621 ICD10:N28.1 ICD9:593.2 SCTID:105999006 UMLS:C0268799 MONDO:0004840 non-congenital cyst of kidney Global enlargement of the renal parenchyma in one or both kidneys. COHD:192686 DOID:9622 ICD10:N28.81 ICD9:593.1 NCIT:C122991 SCTID:88531004 UMLS:C0156259 hypertrophy of the kidney renal Hypertrophy MONDO:0004841 kidney hypertrophy A disease involving the upper respiratory tract. DOID:974 ICD9:478.1 ICD9:478.19 ICD9:478.9 SCTID:201060008 disease of upper respiratory tract disease or disorder of upper respiratory tract disorder of upper respiratory tract upper respiratory tract disease upper respiratory tract disease or disorder MONDO:0004867 upper respiratory tract disease A disease involving the biliary tree. DOID:9741 ICD10:K83.9 ICD9:576.9 MESH:D001660 SCTID:105997008 biliary tree disease biliary tree disease or disorder disease of biliary tree disease or disorder of biliary tree disorder of biliary tree MONDO:0004868 biliary tract disease A neurodegenerative disease that involves the eye. DOID:9799 ICD10:H44.30 ICD10:H44.5 ICD9:360.2 ICD9:360.20 ICD9:360.29 ICD9:360.4 ICD9:360.40 SCTID:62585004 UMLS:C0154777 degenerative disorder of eye eye neurodegenerative disease eyeball of camera-type eye neurodegenerative disease neurodegenerative disease of eyeball of camera-type eye degenerative disorder of globe MONDO:0004884 eye degenerative disease A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). DOID:706 EFO:0000096 ICD9:202.0 NCIT:C27910 ONCOTREE:MBN SCTID:269476000 UMLS:C1334633 mature B-cell lymphocytic neoplasm mature B-cell neoplasm mature B-cell neoplasms MONDO:0004949 Editor note: is a non-hodgkin in ONCOTREE neoplasm of mature B-cells A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance. COHD:443743 DOID:6536 EFO:0000200 ICD9:238.6 MESH:D054219 NCIT:C4665 Orphanet:98282 SCTID:415111003 UMLS:C1959632 plasma cell dyscrasia plasma cell neoplasm plasma cell tumor plasma cell tumor, malignant plasma cell tumour plasmacytic neoplasm plasmacytic tumor plasmacytic tumour plasma cell disorder MONDO:0004959 See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/39 plasma cell neoplasm A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma. CSP:2000-0386 DOID:299 EFO:0000228 ICDO:8140/3 MESH:D000230 NCIT:C2852 ONCOTREE:ADNOS SCTID:443961001 UMLS:C0001418 adenocarcinoma adenocarcinoma NOS (morphologic abnormality) adenocarcinoma, malignant adenocarcinoma, no subtype (morphologic abnormality) adenocarcinomas ADNOS adenocarcinoma, NOS MONDO:0004970 adenocarcinoma A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. DOID:657 EFO:0000232 ICDO:8140/0 MESH:D000236 NCIT:C2855 SCTID:443416007 UMLS:C0001430 acinar cell adenoma acinar cell adenoma (morphologic abnormality) acinic cell adenoma adenoma adenomas adenoma, benign MONDO:0004972 Editor note: check status re benign adenoma In the same amount or manner; to the same degree; in the role, function, or capacity of. DOID:1712 EFO:0000266 ICD10:I06.0 ICD10:Q23.0 ICD9:395.0 ICD9:746.3 UMLS:C0155567 AS aortic stenosis congenital aortic valve stenosis rheumatic aortic stenosis rheumatic aortic valve stenosis aortic valve stenosis MONDO:0004978 aortic stenosis A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003 COHD:200680 EFO:0000294 ICD9:239.4 NCIT:C2901 SCTID:126885006 UMLS:C0005695 bladder neoplasm bladder tumor bladder tumors neoplasm of bladder neoplasm of the bladder neoplasm of the urinary bladder neoplasm of urinary bladder tumor of bladder tumor of the bladder tumor of the urinary bladder tumor of urinary bladder urinary bladder neoplasm urinary bladder neoplasm (disease) urinary bladder neoplasms urinary bladder tumor urinary bladder tumors MONDO:0004987 urinary bladder neoplasm A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. COHD:443392 DOID:0050686 DOID:0050687 DOID:162 EFO:0000311 GARD:0011960 ICD10:C80 ICD10:C80.1 ICD9:195.8 ICD9:199 ICD9:199.1 ICDO:8000/3 NCIT:C9305 NIFSTD:birnlex_406 ONCOTREE:MT SCTID:363346000 UMLS:C0006826 CA cancer cell type cancer malignancy malignant Growth malignant neoplasm malignant neoplasm (disease) malignant neoplastic disease malignant tumor neoplasm (disease), malignant neoplasm, malignant organ system cancer primary cancer MT MONDO:0004992 cancer A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. CSP:2000-1867 DOID:305 EFO:0000313 ICDO:8010/3 ICDO:8011/3 MESH:D002277 NCIT:C2916 SCTID:722688002 UMLS:C0007097 Other carcinoma carcinoma carcinoma, malignant epithelial carcinoma epithelioma epithelioma malignant malignant epithelial neoplasm malignant epithelial tumor malignant epithelioma carcinoma, NOS MONDO:0004993 carcinoma A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. COHD:321319 DOID:0050700 EFO:0000318 GARD:0011958 ICD10:I42 ICD10:I42.9 ICD10:I51.5 ICD9:425 ICD9:425.4 ICD9:425.9 MESH:D009202 MedDRA:10007636 NCIT:C34830 Orphanet:167848 SCTID:85898001 UMLS:C0878544 Cardiomyopathies cardiomyopathy MONDO:0004994 cardiomyopathy A disease involving the cardiovascular system. DOID:1287 EFO:0000319 ICD10:I00.I99 ICD9:390-459.99 ICD9:420-429.99 ICD9:423 ICD9:423.8 ICD9:424 ICD9:429 ICD9:429.2 ICD9:429.7 ICD9:429.8 ICD9:429.81 ICD9:429.89 ICD9:459.89 ICD9:459.9 MESH:D002318 NCIT:C2931 SCTID:49601007 UMLS:C0007222 cardiovascular disease cardiovascular disease (CVD) cardiovascular disorder cardiovascular system disease cardiovascular system disease or disorder disease of cardiovascular system disease of subdivision of hemolymphoid system disease or disorder of cardiovascular system disorder of cardiovascular system circulatory system disease MONDO:0004995 cardiovascular disease A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid. DOID:4468 EFO:0000348 ICDO:8310/3 MESH:D018262 NCIT:C3766 UMLS:C0206681 Mesonephroid clear cell adenocarcinoma Mesonephroid clear cell carcinoma Mesonephroma NOS (morphologic abnormality) Mesonephroma, malignant Mesonephroma, malignant (morphologic abnormality) Wolffian duct neoplasm adenocarcinoma, clear cell, malignant clear cell adenocarcinoma clear cell adenocarcinoma (morphologic abnormality) clear cell adenocarcinoma NOS (morphologic abnormality) clear cell carcinoma malignant Mesonephroma mesonephroma water-clear cell adenocarcinoma water-clear cell adenocarcinoma (morphologic abnormality) water-clear cell carcinoma MONDO:0005004 clear cell adenocarcinoma A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. DOID:4467 EFO:0000349 GARD:0009574 ICD9:189.0 NCIT:C4033 ONCOTREE:CCRCC SCTID:254915003 Grawitz tumor RCC, clear cell adenocarcinoma clear cell adenocarcinoma of kidney clear cell adenocarcinoma of the kidney clear cell adenocarcinoma, kidney clear cell carcinoma of kidney clear cell carcinoma of the kidney clear cell kidney carcinoma clear cell renal cell cancer clear cell renal cell carcinoma conventional (clear cell) renal cell adenocarcinoma conventional (clear cell) renal cell carcinoma conventional renal cell carcinoma hypernephroma kidney clear cell adenocarcinoma kidney clear cell carcinoma renal cell carcinoma, clear cell adenocarcinoma renal clear cell adenocarcinoma renal clear cell carcinoma clear-cell metastatic renal cell carcinoma MONDO:0005005 clear cell renal carcinoma A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue. DOID:4880 EFO:0000350 ICD10:C64 ICDO:8964/3 NCIT:C4264 ONCOTREE:CCSK Orphanet:457246 UMLS:C0334488 UMLS:CN242113 CCSK childhood clear cell sarcoma of the kidney childhood kidney clear cell sarcoma childhood renal clear cell sarcoma clear cell sarcoma - kidney clear cell sarcoma of kidney clear cell sarcoma of the kidney kidney clear cell sarcoma pediatric kidney clear cell sarcoma pediatric renal clear cell sarcoma renal clear cell sarcoma MONDO:0005006 clear cell sarcoma of kidney Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. COHD:319835 DOID:6000 EFO:0000373 ICD10:I50 ICD10:I50.0 ICD10:I50.9 ICD9:404.01 ICD9:404.11 ICD9:404.13 ICD9:428 ICD9:428.0 ICD9:428.9 NCIT:C3080 SCTID:42343007 UMLS:C0018802 CHF cardiac failure, congestive congestive heart disease failure, congestive heart heart failure, congestive weak heart MONDO:0005009 congestive heart failure A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. COHD:201820 DOID:9351 EFO:0000400 HP:0000819 ICD10:E08-E13 ICD10:E10.E14 ICD10:E11 ICD9:250 MESH:D003920 NCIT:C2985 SCTID:73211009 UMLS:C0011847 UMLS:C0011849 DM diabetes diabetes mellitus MONDO:0005015 diabetes mellitus (disease) Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis. EFO:0000401 ICD9:250.4 ICD9:250.40 ICD9:583.81 MESH:D003928 NCIT:C84417 SCTID:127013003 diabetic Nephropathy diabetic kidney disease diabetic nephropathy MONDO:0005016 diabetic nephropathy A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. DOID:1580 EFO:0000404 MESH:D045743 diffuse systemic sclerosis systemic sclerosis, diffuse MONDO:0005019 diffuse scleroderma A non-neoplastic or neoplastic disorder that affects the small or large intestine. DOID:5295 ICD10:K63.9 ICD9:520-579.99 ICD9:560-569.99 ICD9:564 ICD9:564.4 ICD9:569 ICD9:569.4 ICD9:569.49 ICD9:569.89 ICD9:569.9 ICD9:570-579.99 ICD9:575 MESH:D007410 NCIT:C26801 SCTID:85919009 disease of intestine disease or disorder of intestine disorder of intestine intestinal disease intestinal disorder intestine disease intestine disease or disorder disease, intestinal diseases, intestinal MONDO:0005020 intestinal disease Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. COHD:4163710 DOID:12930 EFO:0000407 HP:0001644 ICD10:I42.0 ICD9:425.4 KEGG:05414 MESH:D002311 MP:0002795 MedDRA:10056370 NCIT:C84673 Orphanet:217604 SCTID:195021004 UMLS:C0007193 congestive cardiomyopathy familial dilated cardiomyopathy idiopathic dilation cardiomyopathy primary dilated cardiomyopathy MONDO:0005021 dilated cardiomyopathy A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. COHD:380378 DOID:1826 EFO:0000474 ICD10:G40 ICD10:G40.9 ICD10:G40.909 ICD9:345 ICD9:345.8 ICD9:345.80 ICD9:345.9 ICD9:345.90 ICD9:345.91 MESH:D004827 NCIT:C3020 NIFSTD:birnlex_12718 SCTID:84757009 seizure disorder epilepsy syndrome epileptic syndrome MONDO:0005027 epilepsy A disease involving the reproductive system. DOID:15 EFO:0000512 NCIT:C4875 SCTID:362968007 UMLS:C0178829 Wikipedia:Reproductive_system_disease disease of reproductive system disease or disorder of reproductive system disorder of reproductive system genital disorders genital system disease reproductive disease reproductive system disease reproductive system disease or disorder reproductive system disorder MONDO:0005039 reproductive system disease Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. COHD:437541 DOID:1686 EFO:0000516 HP:0000501 ICD10:H40 ICD10:H40-H42 ICD10:H40.9 ICD10:H40.H42 ICD9:365 ICD9:365.89 ICD9:365.9 MESH:D005901 NCIT:C26782 SCTID:23986001 UMLS:C0017601 glaucoma MONDO:0005041 glaucoma (disease) A disease involving the head. EFO:0000524 SCTID:118934005 UMLS:C1290856 disease of head disease or disorder of head disorder of head head disease head disease or disorder MONDO:0005042 head disease An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. EFO:0000536 MESH:D006965 NCIT:C3113 hyperplasia hyperplastic MONDO:0005043 hyperplasia Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. HTN DOID:10763 EFO:0000537 HP:0000822 ICD10:I10 ICD10:I10-I15 ICD10:I15 ICD9:401-405.99 ICD9:997.91 MESH:D006973 NCIT:C3117 SCTID:38341003 UMLS:C0020538 blood pressure, high blood pressure, increased high blood pressure hyperpiesia hypertensive disease increased blood pressure pressure, high blood vascular hypertensive disorder hypertension MONDO:0005044 hypertensive disorder A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. COHD:4124693 DOID:11984 EFO:0000538 ICD10:I42.1 ICD9:425.1 ICD9:425.11 ICD9:425.4 KEGG:05410 MESH:D002312 MedDRA:10020871 NCIT:C34449 OMIMPS:192600 Orphanet:217569 SCTID:233873004 UMLS:C0007194 hypertrophic cardiomyopathy hypertrophic obstructive cardiomyopathy hypertrophic subaortic stenosis obstructive hypertrophic cardiomyopathy familial hypertrophic cardiomyopathy HCM - hypertrophic cardiomyopathy MONDO:0005045 hypertrophic cardiomyopathy A disorder resulting from an abnormality in the immune system. DOID:2914 EFO:0000540 ICD10:D89.9 ICD9:279 ICD9:279.1 ICD9:279.10 ICD9:279.19 ICD9:279.4 ICD9:279.49 ICD9:279.8 ICD9:279.9 MESH:D007154 NCIT:C3507 SCTID:414029004 disease of immune system disease or disorder of immune system disorder of immune system immune disease immune disorder immune dysfunction immune system disease or disorder immune system disorder immune disorder, NOS MONDO:0005046 immune system disease Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. DOID:5223 EFO:0000545 MESH:D007246 NCIT:C3836 Sterile fertility disorders infertile sterile sterility infertility MONDO:0005047 Editor note: dubious as to whether this is a disease as defined, check with clingen before obsoleting infertility disorder An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. DOID:1967 EFO:0000564 GARD:0006880 ICD10:C49.9 ICD9:171.9 ICDO:8890/3 MESH:D007890 MedDRA:10024189 NCIT:C3158 ONCOTREE:LMS Orphanet:64720 SCTID:443719001 UMLS:C0023269 Leiomyosarcomas leiomyosarcoma leiomyosarcoma (excluding uterine leiomyosarcoma) leiomyosarcoma - not uterine leiomyosarcoma, malignant MONDO:0005058 leiomyosarcoma https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors. DOID:3382 EFO:0000569 GARD:0006913 ICD10:C49.9 ICD9:171.9 ICDO:8850/3 MESH:D008080 MedDRA:10024627 NCIT:C3194 ONCOTREE:LIPO Orphanet:69078 SCTID:254829001 UMLS:C0023827 lip sarcoma liposarcoma liposarcoma, malignant sarcoma of lip liposarcoma not otherwise specified MONDO:0005060 liposarcoma https://rarediseases.info.nih.gov/diseases/6913/liposarcoma A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. COHD:432571 DOID:0060058 EFO:0000574 GARD:0011955 ICD10:C85.9 ICD9:200.0 ICD9:200.1 ICD9:202.80 ICDO:9590/3 MESH:D008223 MedDRA:10025310 NCIT:C3208 ONCOTREE:MLYM Orphanet:223735 SCTID:118600007 UMLS:C0024299 lymphoid cancer lymphoma lymphoma (Hodgkin and non-Hodgkin) lymphoma (Hodgkin's and non-Hodgkin's) lymphoma, malignant lymphomatous malignant lymphoma MLYM lymphoma, NOS MONDO:0005062 This is potentially too broad as well as overlaps with leukemia and should be obsoleted. lymphoma A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. COHD:436670 DOID:0014667 EFO:0000589 ICD10:E70.E90 ICD10:E88.9 ICD9:277.8 ICD9:277.9 MESH:D008659 NCIT:C3235 SCTID:75934005 UMLS:C0025517 disorder of metabolic process metabolic disease metabolic disorder metabolic process disease disease of metabolism MONDO:0005066 metabolic disease A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. cell process disease COHD:438112 DOID:14566 EFO:0000616 HP:0002664 ICD10:C00.D48 ICD9:140-239.99 ICD9:239.8 ICD9:239.9 MESH:D009369 NCIT:C3262 ONCOTREE:OTHER SCTID:55342001 UMLS:CN236628 disease of cellular proliferation neoplasia neoplasm neoplastic disease neoplastic growth tumor tumor disease other neoplasm MONDO:0005070 neoplasm (disease) A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. DOID:863 EFO:0000618 ICD10:G00-G99 ICD10:G00.G99 ICD10:G98 ICD10:G98.8 ICD9:349.89 ICD9:349.9 MESH:D009422 NCIT:C26835 SCTID:118940003 UMLS:C0027765 Wikipedia:Nervous_system_disease disease of nervous system disease or disorder of nervous system disorder of nervous system nervous system disease nervous system disease or disorder nervous system disorder neurologic disease neurologic disorder neurological disease neurological disorder MONDO:0005071 nervous system disorder Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia. DOID:10591 EFO:0000668 ICD10:O14 ICD10:O14.0 ICD10:O14.1 ICD10:O14.2 ICD10:O14.9 ICD10:O14.90 ICD9:642.40 ICD9:642.41 ICD9:642.42 ICD9:642.43 ICD9:642.44 MESH:D011225 MedDRA:10036485 NCIT:C85021 OMIMPS:189800 Orphanet:275555 SCTID:398254007 gestational hypertension hypertension induced by pregnancy pre-eclampsia pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy MONDO:0005081 preeclampsia A disease that has its basis in the disruption of mental process. EFO:0000677 ICD10:F00.F99 ICD9:290-299.99 ICD9:298.8 ICD9:V11.9 NIFSTD:birnlex_12669 SCTID:74732009 UMLS:CN240636 disorder of mental process mental or behavioural disorder mental process disease MONDO:0005084 mental disorder A carcinoma that arises from glandular epithelial cells of the kidney DOID:4450 EFO:0000681 GARD:0013215 HP:0005584 ICD9:189.0 MESH:D002292 MedDRA:10067946 ONCOTREE:RCC Orphanet:217071 SCTID:702391001 RCC adenocarcinoma of kidney hypernephroma kidney adenocarcinoma renal cell carcinoma renal cell adenocarcinoma MONDO:0005086 renal cell carcinoma (disease) A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. DOID:1579 EFO:0000684 ICD10:J96-J99 ICD10:J98 ICD9:460-519.99 ICD9:500-508.99 ICD9:503 ICD9:508 ICD9:508.1 ICD9:508.8 ICD9:508.9 ICD9:510-519.99 ICD9:516 ICD9:516.8 ICD9:516.9 ICD9:517 ICD9:517.8 ICD9:519 ICD9:519.1 ICD9:519.3 ICD9:519.8 ICD9:519.9 ICD9:V12.60 ICD9:V47.2 MESH:D012140 NCIT:C26871 SCTID:50043002 disease of respiratory system disease or disorder of respiratory system disorder of respiratory system respiratory disease respiratory disorder respiratory system disease respiratory system disease or disorder respiratory system disorder MONDO:0005087 respiratory system disease A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. DOID:1115 EFO:0000691 GARD:0012018 ICD10:C49 ICD9:171 ICD9:171.0 ICD9:171.2 ICD9:171.3 ICD9:171.4 ICD9:171.5 ICD9:171.6 ICD9:171.7 ICD9:171.8 ICD9:171.9 ICDO:8800/3 MESH:D012509 NCIT:C9118 SCTID:424413001 connective and soft tissue neoplasm mesenchymal tumor, malignant sarcoma sarcoma of soft tissue and bone sarcoma of the soft tissue and bone sarcoma, malignant tumor of soft tissue and skeleton MONDO:0005089 sarcoma Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. DOID:37 EFO:0000701 ICD9:702 ICD9:702.8 ICD9:709.8 MESH:D012871 NCIT:C3371 SCTID:95320005 cutaneous disorder disease of zone of skin disease or disorder of zone of skin disorder of skin disorder of zone of skin skin and subcutaneous tissue disease skin diseases and manifestations skin disorder zone of skin disease zone of skin disease or disorder dermatosis genodermatosis MONDO:0005093 skin disease An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces. DOID:264 ICDO:9150/1 MESH:D006393 NCIT:C3087 SCTID:134335004 haemangiopericytic meningioma haemangiopericytic meningioma [obs] hemangiopericytoma hemangiopericytoma, malignant hemangiopericytoma, malignant (morphologic abnormality) malignant hemangiopericytoma MONDO:0005094 hemangiopericytoma A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. DOID:1749 EFO:0000707 GARD:0001091 ICDO:8070/3 MESH:D002294 NCIT:C2929 SCTID:402815007 UMLS:C0007137 carcinoma, squamous cell, malignant epidermoid carcinoma epidermoid cell cancer malignant epidermoid cell neoplasm malignant epidermoid cell tumor malignant squamous cell neoplasm malignant squamous cell tumor squamous carcinoma squamous cell cancer squamous cell carcinoma squamous cell carcinoma (morphologic abnormality) squamous cell carcinoma NOS (morphologic abnormality) squamous cell epithelioma MONDO:0005096 squamous cell carcinoma A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. COHD:134442 DOID:418 EFO:0000717 GARD:0009748 ICD10:M34.0 ICD10:M34.1 ICD10:M34.2 ICD10:M34.8 ICD10:M34.9 ICD9:710.1 MESH:D012595 MedDRA:10042953 NCIT:C72070 Orphanet:90291 SCTID:89155008 UMLS:CN206012 PSS PSS (progressive systemic sclerosis) SSc SSc, diffuse sclerosis Scleroderma Scleroderma (& [systemic sclerosis]) Scleroderma syndrome Scleroderma, diffuse Scleroderma, systemic diffuse Scleroderma diffuse sclerosis progressive systemic sclerosis systemic Scleroderma systemic scleroderma systemic sclerosis MONDO:0005100 systemic sclerosis A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. COHD:440358 DOID:3315 EFO:0000759 ICD10:D17 ICD10:D17.9 ICD9:214 ICD9:214.9 ICDO:8850/0 MESH:D008067 NCIT:C3192 SCTID:93163002 UMLS:C0023798 benign lipomatous tumor benign tumor of adipose tissue lipoma lipoma, benign lipomatosis, familial multiple lipomatous neoplasm lipomatous neoplasm (morphologic abnormality) lipomatous tumor tumor of adipose tissue multiple lipomatosis MONDO:0005106 lipoma Any disease caused by a virus. COHD:440029 DOID:934 EFO:0000763 ICD10:A94 ICD10:B34 ICD10:B34.9 ICD9:060-066.99 ICD9:066.9 ICD9:078.89 ICD9:079.99 MESH:D014777 NCIT:C3439 SCTID:34014006 Viruses caused disease or disorder Viruses disease or disorder Viruses infection Viruses infectious disease infection, viral viral disease viral disorder viral infection virus infection infections, Viruses MONDO:0005108 viral infectious disease An infection caused by the human immunodeficiency virus. DOID:526 EFO:0000764 ICD10:B20 ICD10:B20-B20 ICD10:B20.B24 ICD9:042 ICD9:042-042.99 MESH:D015658 NCIT:C3108 SCTID:86406008 UMLS:C0019693 HIV infection Human immunodeficiency virus caused disease or disorder Human immunodeficiency virus disease or disorder Human immunodeficiency virus infectious disease human immunodeficiency virus infectious disease MONDO:0005109 HIV infectious disease An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. COHD:432545 DOID:104 EFO:0000771 ICD10:A49 ICD10:A49.9 ICD9:040.89 ICD9:041.89 ICD9:041.9 MESH:D001424 NCIT:C2890 SCTID:87628006 UMLS:C0004623 Bacteria caused disease or disorder Bacteria disease or disorder Bacteria infectious disease bacterial disease bacterial disorder bacterial infection bacterial infectious disease infection, bacterial infections, bacterial MONDO:0005113 bacterial infectious disease Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) COHD:375545 DOID:83 EFO:0001059 HP:0000518 ICD10:H26 ICD9:366 ICD9:366.44 ICD9:366.8 ICD9:366.9 MESH:D002386 NCIT:C26713 OMIMPS:116200 SCTID:193570009 cataract opacity of the lens MONDO:0005129 cataract (disease) A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. cancer of cervix cervical cancer cervical cancer, NOS cervix cancer uterine cervix cancer DOID:2893 EFO:0001061 NCIT:C9039 SCTID:285432005 UMLS:C0302592 cancer of cervix cancer of the cervix cancer of the uterine cervix cancer of uterine cervix carcinoma cervix uteri carcinoma of cervix carcinoma of cervix uteri carcinoma of the cervix carcinoma of the cervix uteri carcinoma of the uterine cervix carcinoma of uterine cervix cervical carcinoma cervix carcinoma cervix uteri carcinoma uterine cervix carcinoma MONDO:0005131 cervical carcinoma Any condition related to a disturbance between proper intake and utilization of nourishment. DOID:374 EFO:0001069 ICD9:783.9 MESH:D009748 NCIT:C26836 SCTID:2492009 UMLS:C3714509 nutritional disorder nutrition disease MONDO:0005137 nutritional disorder A chronic condition characterized by minimal or absent production of insulin by the pancreas. COHD:201254 DOID:9744 EFO:0001359 ICD10:E10 KEGG:04940 MESH:D003922 NCIT:C2986 SCTID:46635009 IDDM diabetes mellitis type 1 diabetes mellitis type I immune mediated diabetes insulin dependent diabetes insulin dependent diabetes mellitus insulin-dependent diabetes mellitus juvenile diabetes type 1 diabetes type I diabetes type I diabetes mellitus MONDO:0005147 type 1 diabetes mellitus A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. COHD:201826 DOID:9352 EFO:0001360 ICD10:E11 KEGG:04930 MESH:D003924 NCIT:C26747 OMIM:125853 SCTID:44054006 UMLS:CN244395 NIDDM T2DM - type 2 diabetes mellitus adult onset diabetes adult-onset diabetes diabetes mellitis type 2 diabetes mellitis type II diabetes mellitus, noninsulin-dependent diabetes mellitus, type 2 diabetes, type 2 non-insulin dependent diabetes non-insulin dependent diabetes mellitus non-insulin-dependent diabetes mellitus noninsulin dependent diabetes noninsulin-dependent diabetes mellitus type 2 diabetes type 2 diabetes mellitus type 2 diabetes mellitus non-insulin dependent type II diabetes type II diabetes mellitus diabetes mellitus, type 2, protection against insulin resistance, susceptibility to maturity-onset diabetes MONDO:0005148 type 2 diabetes mellitus Increased pressure within the pulmonary circulation due to lung or heart disorder. DOID:6432 EFO:0001361 ICD10:I27.2 MESH:D006976 SCTID:70995007 MONDO:0005149 pulmonary hypertension A disease involving the endocrine system. DOID:28 EFO:0001379 ICD10:E34.9 ICD9:259.8 ICD9:259.9 MESH:D004700 NCIT:C3009 SCTID:362969004 UMLS:C0014130 disease of endocrine system disease or disorder of endocrine system disorder of endocrine system endocrine disease endocrine disorder endocrine system disease endocrine system disease or disorder endocrine system disorder endocrinopathy thyroid or other glandular disorders MONDO:0005151 endocrine system disease A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. COHD:4254542 DOID:9406 EFO:0001380 GARD:0002917 ICD10:E23.0 MESH:D007018 NCIT:C62591 SCTID:74728003 UMLS:C0020635 pituitary hormone deficiency pituitary insufficiency pituitary hypofunction MONDO:0005152 hypopituitarism https://rarediseases.info.nih.gov/diseases/2917/hypopituitarism An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type. DOID:3702 EFO:0001416 NCIT:C4029 ONCOTREE:CEAD SCTID:254887002 adenocarcinoma - cervix adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of cervix uteri adenocarcinoma of the cervix adenocarcinoma of the cervix uteri adenocarcinoma of the uterine cervix adenocarcinoma of uterine cervix cervical adenocarcinoma cervix adenocarcinoma cervix uteri adenocarcinoma uterine cervix adenocarcinoma cervical adenocarcinoma, NOS cervical adenocarcinoma, not otherwise specified MONDO:0005153 cervical adenocarcinoma A disease involving the liver. COHD:194984 DOID:409 EFO:0001421 ICD10:K70-K77 ICD10:K76.9 ICD9:573.8 ICD9:573.9 MESH:D008107 NCIT:C3196 SCTID:235856003 UMLS:C0023895 disease of liver disease or disorder of liver disorder of liver hepatic disease hepatic disorder liver and intrahepatic bile duct disorder liver disease liver disease or disorder liver disorder MONDO:0005154 liver disease Inflammation of the brain and the spinal cord. DOID:640 EFO:0001423 ICD9:323.9 MESH:D004679 NCIT:C34580 SCTID:62950007 UMLS:C0014070 central nervous system inflammation encephalitis &/or myelitis encephalitis and/or myelitis inflammation of central nervous system MONDO:0005156 encephalomyelitis A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms. EFO:0001642 ICD9:200.7 NCIT:C7065 ONCOTREE:LYMPH UMLS:C0598798 lymphocytic and plasma cell neoplasm lymphocytic and plasma cell tumor lymphocytic and plasma cell tumour lymphocytic and plasmacytic neoplasm lymphocytic neoplasm lymphocytic tumor lymphoid and plasma cell tumor lymphoid and plasma cell tumour lymphoid and plasmacytic neoplasm lymphoid and plasmacytic tumor lymphoid and plasmacytic tumour lymphoid neoplasm lymphoid tumor MONDO:0005157 lymphoid neoplasm A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone. DOID:3355 EFO:0002087 GARD:0002327 HP:0100244 ICD10:C49.9 ICD9:171.9 ICDO:8810/3 MedDRA:10016632 NCIT:C3043 ONCOTREE:FIBS Orphanet:2030 SCTID:443250000 UMLS:C0016057 fibrocytic tumor fibrosarcoma fibrosarcoma (excluding infantile fibrosarcoma) fibrosarcoma - not infantile fibrosarcoma of soft tissue fibrosarcoma, malignant fibrous tissue neoplasm malignant fibromatous neoplasm MONDO:0005164 fibrosarcoma (disease) A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites. DOID:0060072 DOID:0060084 DOID:0060085 EFO:0002422 ICD10:D10.D36 ICD9:210-229.99 ICD9:229.8 ICD9:229.9 ICDO:8000/0 NCIT:C3677 SCTID:20376005 benign neoplasm benign neoplasm (disease) neoplasm (disease), benign benign tumor benign unclassifiable tumor cell type benign neoplasm neoplasm, benign organ system benign neoplasm MONDO:0005165 Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14 benign neoplasm A disease involving the skeletal system. EFO:0002461 SCTID:88230002 UMLS:C0263661 disease of skeletal system disease or disorder of skeletal system disorder of skeletal system skeletal system disease skeletal system disease or disorder disease of bone and/or joint osteoarthropathy MONDO:0005172 skeletal system disease A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium. DOID:397 EFO:0002630 ICD10:I42.5 ICD9:425.4 MESH:D002313 MedDRA:10038748 NCIT:C62798 Orphanet:217632 SCTID:415295002 UMLS:C0007196 cardiomyopathy, constrictive primary restrictive cardiomyopathy restrictive cardiomyopathy familial restrictive cardiomyopathy MONDO:0005201 restrictive cardiomyopathy A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. DOID:4451 EFO:0002890 NCIT:C9384 UMLS:C1378703 carcinoma of kidney kidney (including renal cell) cancer kidney (renal) cancer kidney cancer kidney carcinoma renal cancer renal carcinoma kidney cancer, NOS MONDO:0005206 renal carcinoma A carcinoma involving a uterus. EFO:0002919 SCTID:446022000 UMLS:C2960452 carcinoma of uterus uterus carcinoma MONDO:0005213 uterine carcinoma An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome. EFO:0002945 ICD9:425.4 SCTID:35728003 UMLS:C0264789 hereditary cardiomyopathy MONDO:0005217 familial cardiomyopathy Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle. DOID:0080000 EFO:0002970 MESH:D009135 disease of muscle organ disease or disorder of muscle organ disorder of muscle organ muscle organ disease muscle organ disease or disorder MONDO:0005218 Editor note: consider merging with child muscular disease A carcinoma that arises from epithelial cells of the collecting duct of renal tubule DOID:4464 EFO:0003016 GARD:0009573 ICD10:C64 ICDO:8319/3 NCIT:C6194 ONCOTREE:CDRCC Orphanet:247203 UMLS:C1266044 BDC Bellini carcinoma Bellini duct carcinoma cDC carcinoma of collecting duct of renal tubule carcinoma of collecting ducts of Bellini carcinoma of kidney collecting duct carcinoma of renal collecting duct carcinoma of the collecting ducts of Bellini carcinoma of the kidney collecting duct carcinoma of the renal collecting duct collecting duct carcinoma collecting duct of renal tubule carcinoma collecting duct renal cancer collecting duct renal cell carcinoma kidney collecting duct carcinoma renal carcinoma, collecting duct type renal collecting duct carcinoma renal medullary carcinoma Bellini’s duct carcinoma collecting duct carcinoma of the kidney MONDO:0005220 collecting duct carcinoma A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas. DOID:5974 EFO:0003017 ICD9:189.0 NCIT:C7355 SCTID:408642003 UMLS:C0238410 kidney renal pelvis urothelial cancer renal pelvis transitional cell carcinoma renal pelvis urothelial cancer renal pelvis urothelial carcinoma transitional cell carcinoma of renal pelvis transitional cell carcinoma of the renal pelvis urothelial cell carcinoma of renal pelvis urothelial cell carcinoma of the renal pelvis MONDO:0005221 renal pelvis urothelial carcinoma A disease involving the kidney. DOID:557 EFO:0003086 ICD10:N08 ICD10:N28.9 ICD9:583.81 MESH:D007674 NCIT:C3149 SCTID:90708001 UMLS:C0022658 disease of kidney disease or disorder of kidney disorder of kidney kidney disease kidney disease or disorder kidney disorder nephropathy renal disease renal disorder disorder of kidney MONDO:0005240 kidney disease A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. DOID:870 EFO:0003100 EFO:0004149 ICD10:G62.9 MedDRA:10034606 NCIT:C119734 NCIT:C4731 SCTID:386033004 UMLS:C0442874 neuropathy peripheral nerve disorder peripheral neuropathy MONDO:0005244 Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 peripheral neuropathy A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. EFO:0003103 ICD9:599.0 NCIT:C50791 SCTID:68566005 UTI infection, urinary tract tract, infection Of urinary urinary tract infection urinary tract infectious disease MONDO:0005247 urinary tract infection (disease) Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. COHD:316139 EFO:0003144 ICD9:428 ICD9:428.9 MESH:D006333 NCIT:C50577 SCTID:84114007 UMLS:CN236639 cardiac failure cardiac insufficiency failure, heart heart failure insufficiency, Cardiac MONDO:0005252 heart failure A disease involving the heart and/or pericardium. COHD:321588 DOID:114 EFO:0003777 ICD10:I51.9 ICD9:429.89 ICD9:429.9 ICD9:V47.2 MESH:D006331 NCIT:C3079 SCTID:56265001 UMLS:C0018799 UMLS:CN236661 UMLS:CN239852 cardiac disease disease of heart disease or disorder of heart disorder of heart disorder of heart/pericardium heart disease heart disease or disorder heart disorder heart trouble heart/pericardial disease heart/pericardial disease or disorder heart/pericardial disorder heart/pericardial trouble MONDO:0005267 heart disease A disease involving the lung. DOID:850 EFO:0003818 ICD10:J98.4 ICD9:518.89 MESH:D008171 NCIT:C3198 SCTID:19829001 disease of lung disease or disorder of lung disorder of lung lung disease lung disease or disorder lung disorders pulmonary diseases pulmonary disorder pulmonary disorders lung disorder pulmonary disease MONDO:0005275 lung disease An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. DOID:0050169 EFO:0003834 GARD:0006225 MESH:D008178 NCIT:C26819 SCTID:7119001 UMLS:C0024137 lupus erythematosus, cutaneous MONDO:0005282 cutaneous lupus erythematosus https://rarediseases.info.nih.gov/diseases/6225/cutaneous-lupus-erythematosus Any disease or disorder of the retina. COHD:376103 DC:0000592 DOID:5679 EFO:0003839 HGNC:8002 ICD10:H35.9 ICD9:362.89 ICD9:362.9 MESH:D012164 NCIT:C62601 SCTID:29555009 UMLS:C0035309 eye disease of retina retina eye disease retinopathy MONDO:0005283 retinal disease Any disorder affecting blood flow through the veins or arteries outside of the heart. COHD:321052 DOID:341 EFO:0003875 ICD9:443.81 MESH:D016491 NCIT:C35136 arterial occlusive disease disease, peripheral vascular peripheral vascular disorder vascular disease, peripheral MONDO:0005294 peripheral vascular disease A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). COHD:80502 DOID:11476 EFO:0003882 GARD:0011932 ICD10:M81 ICD10:M81.0 ICD9:733.0 ICD9:733.00 ICD9:733.09 MESH:D010024 NCIT:C3298 OMIM:166710 SCTID:64859006 fracture, hip, susceptibility to osteoporosis, involutional MONDO:0005298 osteoporosis Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. COHD:46271022 DOID:784 EFO:0003884 ICD10:N18.9 ICD9:585 ICD9:585.6 MESH:D007676 NCIT:C80078 SCTID:709044004 UMLS:C0022661 CKD CKD - chronic kidney disease chronic kidney disease chronic kidney failure chronic renal disease kidney disease, chronic renal failure - chronic chronic renal failure syndrome chronic renal insufficiency MONDO:0005300 chronic kidney disease A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. DOID:0060340 EFO:0003900 GTR:AN0966173 Orphanet:363250 UMLS:CN580792 ciliopathies MONDO:0005308 ciliopathy Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. DOID:1936 EFO:0003914 ICD10:I25.1 ICD10:I70 ICD9:440 ICD9:440.8 MESH:D050197 NCIT:C35768 NCIT:C35771 SCTID:441574008 atherosclerosis of artery atherosclerotic cardiovascular disease atherosclerosis artery MONDO:0005311 Note that NCIT distinguishes between atherosclerotic cardiovascular disease and atherosclerosis - we merge these here atherosclerosis A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. COHD:375252 DOID:5614 EFO:0003966 ICD10:H44 ICD10:H44.9 ICD9:360 ICD9:360.89 ICD9:360.9 ICD9:379.8 ICD9:379.90 MESH:D005128 NCIT:C26767 SCTID:371405004 UMLS:C0015397 disease of eye disease of eyeball of camera-type eye disease or disorder of eyeball of camera-type eye disorder of eye disorder of eyeball of camera-type eye eye disease eye disorder eyeball of camera-type eye disease eyeball of camera-type eye disease or disorder disease of eyeball disorder of eye proper disorder of eyeball disorder of globe MONDO:0005328 eye disease A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. EFO:0004128 MESH:D009394 SCTID:399340005 hereditary nephritis familial nephritis nephritis, familial MONDO:0005334 hereditary nephritis A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. DOID:423 EFO:0004145 ICD10:G72.9 ICD10:M60-M63 ICD10:M62.9 ICD9:359.8 ICD9:359.9 ICD9:728.3 NCIT:C101216 SCTID:129565002 UMLS:C0026848 MONDO:0005336 Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition myopathy Inflammation of a specific segment of glomeruli within the kidney. DOID:2986 EFO:0004194 ICD9:583.9 MESH:D005922 NCIT:C34643 OMIMPS:161950 SCTID:68779003 UMLS:C0017661 IgA glomerulonephritis IgA nephropathy berger's IgA or IgG nephropathy berger's disease focal glomerulonephritis primary IgA nephropathy segmental glomerulonephritis MONDO:0005342 IgA glomerulonephritis A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure. DOID:1312 EFO:0004236 GARD:0006517 ICD9:582.1 MESH:D005923 NCIT:C37308 OMIMPS:603278 SCTID:236403004 UMLS:CN043606 FGS FGS (focal glomerular sclerosis) FSGS FSGS - focal segmental glomerulosclerosis focal glomerular sclerosis focal glomerulosclerosis MONDO:0005363 focal segmental glomerulosclerosis A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. COHD:377889 EFO:0004238 ICD10:H90 ICD9:389 ICD9:389.8 ICD9:389.9 MESH:D034381 NCIT:C35731 SCTID:15188001 UMLS:C1384666 hearing impairment hearing loss hypoacuses hypoacusis loss of hearing loss, hearing deafness MONDO:0005365 hearing loss disorder The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. COHD:198197 DOID:12336 EFO:0004248 ICD10:N46 ICD10:N46.9 ICD9:606 ICD9:606.9 MESH:D007248 SCTID:2904007 UMLS:C0021364 infertility disorder of male reproductive system male reproductive system infertility male reproductive system infertility disorder MONDO:0005372 male infertility A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome. COHD:252365 DOID:10976 EFO:0004254 ICD10:N03.2 ICD9:582.1 ICD9:583.1 MESH:D015433 NCIT:C34645 SCTID:77182004 UMLS:C0017665 membranous Glomerulonephropathy membranous nephropathy MONDO:0005376 membranous glomerulonephritis A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. COHD:195314 DOID:1184 EFO:0004255 ICD10:N04 ICD9:581 ICD9:581.9 MESH:D009404 NCIT:C34845 SCTID:52254009 UMLS:C0027726 Finnish congenital nephrosis nephrotic syndrome nephrotic syndromes syndrome, nephrotic syndromes, nephrotic nephrosis MONDO:0005377 nephrotic syndrome A none disease characterized by death of bone tissue due to a lack of blood supply. COHD:4344387 DOID:0080008 DOID:10159 EFO:0004259 GARD:0012057 ICD10:M87 ICD10:M87.0 ICD10:M87.1 ICD10:M87.2 ICD10:M87.3 ICD10:M87.8 ICD10:M87.9 ICD9:732.3 ICD9:733.4 ICD9:733.41 ICD9:733.42 ICD9:733.43 ICD9:733.44 ICD9:733.49 MESH:D010020 NCIT:C34880 NCIT:C35476 Orphanet:399158 SCTID:240196003 aseptic necrosis bone necrosis ischemic bone disease osteonecrosis MONDO:0005380 osteonecrosis Diseases of bones. DOID:0080001 EFO:0004260 ICD10:M89.9 ICD9:731.8 ICD9:733.99 MESH:D001847 Orphanet:364803 SCTID:76069003 UMLS:C0005940 UMLS:CN204768 bone element disease bone element disease or disorder disease of bone element disease or disorder of bone element disorder of bone element rare bone disease related to a common gene or pathway defect skeletal disease MONDO:0005381 bone disease A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma. DOID:178 EFO:0004264 ICD10:I72.9 ICD9:442.9 MESH:D014652 NCIT:C35117 SCTID:27550009 UMLS:C0042373 disease of vasculature disease or disorder of vasculature disorder of vasculature vascular disorder vascular tissue disease vasculature disease vasculature disease or disorder MONDO:0005385 vascular disease Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. DOID:5426 EFO:0004266 ICD10:E28.3 ICD9:253.4 ICD9:256.39 MESH:D016649 NCIT:C113352 SCTID:370999003 SCTID:65846009 UMLS:C0085215 hypergonadotropic hypogonadism hypergonadotropic hypogonadism (female) primary ovarian failure primary ovarian insufficiency female hypergonadotropic hypogonadism hypergonadotrophic ovarian failure premature menopause premature ovarian failure premature ovarian insufficiency primary female hypogonadism MONDO:0005387 primary ovarian failure Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. COHD:372604 DOID:480 EFO:0004280 ICD9:333.90 ICD9:333.99 MESH:D009069 NCIT:C116757 SCTID:60342002 movement disease movement disorders MONDO:0005395 movement disorder Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy. EFO:0004996 MONDO:0005442 type 1 diabetes nephropathy Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long‐term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking. EFO:0004997 MONDO:0005443 type 2 diabetes nephropathy A disease involving the adrenal gland. COHD:193165 DOID:9553 EFO:0005539 ICD10:E27.9 ICD9:255 ICD9:255.8 ICD9:255.9 MESH:D000307 NCIT:C26690 SCTID:30171000 adrenal gland disease adrenal gland disease or disorder adrenal gland diseases adrenal gland disorder adrenal gland disorders disease of adrenal gland disease or disorder of adrenal gland disorder of adrenal gland MONDO:0005495 adrenal gland disease A disease involving the bone development. DOID:0080006 EFO:0005541 SCTID:371521007 bone development disease bone development disease or disorder disease of bone development disease or disorder of bone development disorder of bone development MONDO:0005497 bone development disease A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. DOID:0050570 EFO:0005545 OMIMPS:212065 congenital disorders of glycosylation, type I ALG1-CDG ALG1-CDG (CDG-1k) ALG11-CDG ALG11-CDG (CDG-1p) ALG12-CDG ALG12-CDG (CDG-1g) ALG2-CDG ALG2-CDG (CDG-1i) ALG3-CDG ALG3-CDG (CDG-1d) ALG6-CDG ALG6-CDG (CDG-1c) ALG8-CDG ALG8-CDG (CDG-1h) ALG9-CDG ALG9-CDG (CDG-1l) DOLK-CDG DOLK-CDG (CDG-1m) DPAGT1-CDG DPAGT1-CDG (CDG-1j) DPM1-CDG DPM1-CDG (CDG-1e) DPM2-CDG DPM2-CDG (CDG-1u) DPM3-CDG DPM3-CDG (CDG-1o) MPDU1-CDG MPDU1-CDG (CDG-1f) MPI-CDG MPI-CDG (CDG-1b) PMM2-CDG PMM2-CDG (CDG-1a) RFT1-CDG RFT1-CDG (CDG-1n) SRD5A3-CDG SRD5A3-CDG (CDG-1q) MONDO:0005500 congenital disorder of glycosylation type I A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. DOID:0050571 EFO:0005546 MESH:C535747 OMIMPS:212066 congenital disorders of glycosylation, type II B4GALT1-CDG B4GALT1-CDG (CDG-2d) MGAT2-CDG MGAT2-CDG (CDG-2a) MOGS-CDG MOGS-CDG (CDG-2b) MONDO:0005501 congenital disorder of glycosylation type II 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. DOID:0060037 EFO:0005548 ICD9:315.8 SCTID:129104009 developmental mental disorder MONDO:0005503 developmental disorder of mental health Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria. COHD:433811 DOID:11111 EFO:0005562 ICD10:N13.30 ICD9:591 MESH:D006869 NCIT:C26796 SCTID:43064006 UMLS:C0020295 MONDO:0005510 hydronephrosis A term referring to disorders characterized by abnormalities in the development of bones and cartilage. DOID:2256 EFO:0005571 GARD:0006051 ICD10:Q78.9 ICD9:756.4 MESH:D010009 NCIT:C84978 SCTID:105985007 UMLS:C0029422 chondrodystrophy congenital skeletal dysplasia osteochondrodysplasia osteochondrodysplasia syndrome skeletal dysplasia cartilage development disorder congenital anomaly of cartilage MONDO:0005516 osteochondrodysplasia A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas. DOID:4919 EFO:0005582 ICD10:C65 ICD9:189.1 NCIT:C6142 SCTID:363457009 UMLS:C0153618 UMLS:C1335749 cancer of renal pelvis carcinoma of kidney pelvis carcinoma of renal pelvis carcinoma of the kidney pelvis carcinoma of the renal pelvis kidney pelvis carcinoma kidney renal pelvis cancer malignant neoplasm of renal pelvis malignant renal pelvis neoplasm malignant tumor of renal pelvis renal pelvis cancer renal pelvis carcinoma MONDO:0005519 renal pelvis carcinoma Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. COHD:438719 DOID:10609 EFO:0005583 GARD:0005700 HP:0002748 ICD10:E55.0 ICD9:268.0 MESH:D012279 NCIT:C26878 SCTID:41345002 UMLS:C0035579 rachitis rickets vitamin D hydroxylation-deficient rickets vitamin D-dependent rickets active rickets hypovitaminosis D nutritional rickets vitamin D deficiency disease vitamin-D deficiency rickets MONDO:0005520 rickets (disease) An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process. DOID:0050718 EFO:0005596 inborn error of vitamin metabolic process inborn vitamin metabolic process disorder rare inborn error of vitamin metabolic process vitamin metabolic disorder MONDO:0005528 inborn vitamin metabolic disorder A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. EFO:0005708 ICDO:8311/1 ICDO:8312/3 NCIT:C9385 RCC adenocarcinoma of kidney adenocarcinoma of the kidney carcinoma, renal cell, malignant kidney adenocarcinoma renal cell adenocarcinoma renal cell cancer renal cell carcinoma renal cell carcinoma, stage unspecified renal cell carcinoma, NOS MONDO:0005549 Editor note: check relationship to RCC renal cell adenocarcinoma A disorder resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. DOID:0050117 EFO:0005741 ICD10:A00.B99 ICD9:079.0 ICD9:136.8 ICD9:136.9 IDO:0000436 MESH:D003141 NCIT:C26726 SCTID:40733004 ID clinical infection communicable disease infection infectious infectious disease infectious diseases and manifestations infectious disorder transmissible disease disease by infectious agent MONDO:0005550 Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself. infectious disease A disorder that is caused by pathologic changes in the ocular vasculature. EFO:0005753 NCIT:C35664 disease of vasculature of eye disease or disorder of vasculature of eye disorder of vasculature of eye ocular vascular disorder vasculature of eye disease vasculature of eye disease or disorder MONDO:0005552 ocular vascular disease Inflammatory and degenerative diseases of connective tissue structures, such as arthritis. DOID:1575 EFO:0005755 ICD9:729.0 MESH:D012216 NCIT:C27204 SCTID:396332003 UMLS:C0035435 Wikipedia:Rheumatism rheumatologic disorder collagen disease collagen vascular disease connective tissue disease disease, rheumatic diseases, rheumatic enthesopathies enthesopathy inflammatory rheumatism musculoskeletal pain disorder rheumatic disease rheumatism MONDO:0005554 This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue rheumatologic disorder Glomerulonephritis in the context of systemic lupus erythematosus. DOID:0080162 EFO:0005761 GARD:0010747 MESH:D008181 NCIT:C34789 SCTID:68815009 UMLS:C0024143 SLE nephritis lupus glomerulonephritis lupus nephritis Glomerulonephritides, lupus Nephritides, lupus glomerulonephritis, lupus lupus Glomerulonephritides lupus Nephritides nephritis, lupus MONDO:0005556 lupus nephritis https://rarediseases.info.nih.gov/diseases/10747/lupus-nephritis Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. DOID:10575 EFO:0005769 ICD10:E83.5 ICD10:E83.50 ICD9:275.4 ICD9:275.40 ICD9:275.49 MESH:D002128 SCTID:71638002 SCTID_2010_1_31:190863003 SCTID_2010_1_31:190874007 SCTID_2010_1_31:267442002 SCTID_2010_1_31:71638002 UMLS:C0006705 disorder of calcium metabolism calcium metabolism disease calcium metabolism disorder MONDO:0005557 Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh, Consider relocating this as a sibling of metabolic disease. calcium metabolic disease A disease involving the ovary. DOID:1100 EFO:0005771 MESH:D010049 NCIT:C26841 SCTID:5552004 UMLS:C0029928 disease of ovary disease or disorder of ovary disorder of ovary ovarian disease ovarian disorder ovary disease ovary disease or disorder MONDO:0005558 ovarian disease A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. degenerative disease DOID:1289 EFO:0005772 ICD10:G31.9 ICD9:349.89 MESH:D019636 NCIT:C4802 SCTID:80690008 brain degeneration central nervous system degenerative disorder central nervous system neurodegenerative disorder degenerative disorder of central nervous system neurodegenerative disease cerebral degeneration disease MONDO:0005559 Editor notes: DO treats this as two diseases neurodegenerative disease A disease affecting the brain or part of the brain. DOID:936 EFO:0005774 ICD10:G93.40 ICD10:G93.9 ICD9:348.3 ICD9:348.30 ICD9:348.8 ICD9:348.9 MESH:D001927 NCIT:C96413 SCTID:81308009 UMLS:C0006111 UMLS:C0085584 brain disease brain disease or disorder disease of brain disease or disorder of brain disorder of brain encephalopathy MONDO:0005560 Editor note: NCIT has different classes for brain disease and encephalopathy brain disease Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC) DOID:520 EFO:0005775 ICD9:447.9 MESH:D001018 NCIT:C101253 SCTID:47040006 UMLS:C0003493 aorta disease aorta disease or disorder aortic disorder disease of aorta disease or disorder of aorta disorder of aorta disorder of the aorta MONDO:0005561 aortic disease A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003 DOID:688 EFO:0005784 NCIT:C3264 ONCOTREE:EMBT UMLS:C0027654 embryo neoplasm embryonal neoplasm embryonal tumor EMBT embryonal cancer MONDO:0005564 embryonal neoplasm Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset. DOID:1461 EFO:0005801 ICD10:I75 ICD9:445 ICD9:459.89 MESH:D017700 SCTID:307406004 UMLS:C0149649 UMLS:C0585266 atheroembolism cholesterol crystal embolism purple toe syndrome trash foot warfarin blue toe syndrome MONDO:0005568 cholesterol embolism Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE). COHD:4178431 DOID:1222 EFO:0005802 ICD10:M91-M94 ICD10:M94.9 ICD9:733.99 MESH:D002357 SCTID:50927007 UMLS:C0007302 Chondropathy cartilage disorder cartilage tissue disease cartilage tissue disease or disorder disease of cartilage tissue disease or disorder of cartilage tissue disorder of cartilage tissue MONDO:0005569 Editor note: DO places this under articular cartilage disease cartilage disease A disease involving the hematopoietic system. DOID:74 EFO:0005803 GTR:AN1320635 ICD10:D75.9 ICD9:280-289.99 ICD9:289.8 ICD9:289.9 MESH:D006402 NCIT:C26323 Orphanet:97992 SCTID:414022008 UMLS:C0018939 UMLS:CN206939 UMLS:CN882913 blood disease blood disorder blood dyscrasia disease of hematopoietic system disease of the blood and blood-forming organs disease or disorder of hematopoietic system disorder of hematopoietic system hematologic and lymphocytic disorder hematologic disorder hematological disease hematological disorder hematological system disease hematopoietic disease hematopoietic system disease hematopoietic system disease or disorder rare hematologic disease blood dyscrasia NOS hematological disorders and malignancies MONDO:0005570 placeholder for lymphoid disease hematologic disease https://github.com/monarch-initiative/mondo/issues/254 An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. COHD:4291025 DOID:848 EFO:0005856 ICD10:M19.90 MESH:D001168 NCIT:C2883 SCTID:3723001 UMLS:C0003864 Wikipedia:Arthritis arthritis inflammation of skeletal joint skeletal joint inflammation inflammatory disorder of joint MONDO:0005578 Editor note: osteoarthritis is primarily non-inflammatory which causes issues if we classify arthritis as inflammatory. arthritic joint disease Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis. EFO:0006388 PMID:3739121 MONDO:0005597 cystic renal cell carcinoma A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity. DOID:2670 EFO:0006497 ICDO:8120/0 NCIT:C4115 UMLS:C0334266 papilloma, transitional cell, benign transitional cell papilloma transitional cell papilloma NOS (morphologic abnormality) transitional cell papilloma, benign transitional cell papilloma, benign (morphologic abnormality) transitional papilloma MONDO:0005605 transitional cell papilloma An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants. EFO:0006719 ICDO:9110/3 NCIT:C4072 malignant Mesonephroma MONDO:0005613 mesonephric adenocarcinoma A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. EFO:0006858 MESH:D009375 NCIT:C3709 SCTID:118285006 epithelial neoplasm epithelioma epithelial neoplasms, NOS MONDO:0005626 epithelial neoplasm Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome. MONDO:0042492 EFO:0007295 ICD9:079.81 MESH:D018778 NCIT:C3899 SCTID:359761005 UMLS:C0242994 Hantavirus caused disease or disorder Hantavirus disease or disorder Hantavirus infection Hantavirus infectious disease disease due to hantavirus disease caused by hantavirus infections, Hantavirus MONDO:0005780 hantavirus infectious disease A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision. DOID:11266 EFO:0007299 ICD10:A98.5 ICD9:078.6 NCIT:C84753 SCTID:102455002 HFRS hemorrhagic nephrosonephritis Puumala virus nephropathy hemorrhagic fever, Russian hemorrhagic fever with renal syndrome MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings. EFO:0007313 MESH:D016263 NCIT:C26918 UMLS:C0078911 AIDS-associated nephropathy AIDS-related nephropathy HIV nephropathy HIVAN MONDO:0005798 HIV-associated nephropathy A disease involving the lymphatic part of lymphoid system. DOID:75 EFO:0007352 MESH:D008206 NCIT:C50764 SCTID:362971004 UMLS:C0024228 disease of lymphatic part of lymphoid system disease or disorder of lymphatic part of lymphoid system disorder of lymph node and lymphatics disorder of lymphatic part of lymphoid system disorder of lymphatic system glands, swollen lymphatic disease lymphatic disorder lymphatic part of lymphoid system disease lymphatic part of lymphoid system disease or disorder swollen gland swollen glands lymphadenopathy lymphangiopathy adenopathy disease of lympoid system disorder of lymphoid system lymphangiopathy, NOS lympoid system disease MONDO:0005833 Editor note: check alignment to anatomy, consider lymphoid system disease lymphatic system disease Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan. DOID:10554 EFO:0007364 ICD10:A69.22 ICD10:G04 MESH:D008590 NCIT:C34813 SCTID:7125002 UMLS:C0025309 MONDO:0005845 meningoencephalitis A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung. DOID:154 EFO:0007373 EFO:1000356 ICDO:8940/3 MESH:D018198 NCIT:C3729 UMLS:C0206625 malignant mixed cancer malignant mixed neoplasm malignant mixed tumor mixed neoplasm, malignant mixed tumor mixed tumor, malignant mixed tumor, malignant (morphologic abnormality) mixed tumor, malignant, NOS (morphologic abnormality) tumor, mixed, malignant malignant mixed tumors mixed cell type cancer mixed neoplasm mixed tumors, malignant tumor, malignant mixed tumors, malignant mixed MONDO:0005853 malignant mixed neoplasm Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms. DOID:3492 EFO:0007374 GARD:0007051 ICD10:M35.1 MESH:D008947 MedDRA:10027754 NCIT:C84892 Orphanet:809 SCTID:398049005 UMLS:C0026272 MCTD connective tissue disease overlap syndrome mixed collagen vascular disease sharp syndrome MONDO:0005854 mixed connective tissue disease https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas. DOID:4045 EFO:0007384 ICD10:C49 ICD9:171.9 ICDO:8895/3 NCIT:C4883 SCTID:363495004 UMLS:C0027095 UMLS:C0684743 cancer of muscle structure malignant muscle neoplasm malignant muscle structure neoplasm malignant muscle tumor malignant neoplasm of muscle malignant neoplasm of muscle structure malignant neoplasm of the muscle malignant tumor of muscle malignant tumor of the muscle muscle structure cancer myosarcoma MONDO:0005864 muscle cancer A primary or metastatic malignant neoplasm involving the nervous system. DOID:3093 EFO:0007392 ICD9:192 ICD9:192.8 ICD9:192.9 MESH:D009423 NCIT:C4788 SCTID:372063002 cancer of nervous system malignant neoplasm of nervous system malignant neoplasm of the nervous system malignant nervous system neoplasm malignant nervous system tumor malignant tumor of nervous system malignant tumor of the nervous system neoplasm of nervous system nervous system cancer nervous system neoplasm nervous system neoplasms, malignant neural neoplasm neural tumor tumor of the nervous system MONDO:0005872 nervous system cancer A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm. DOID:12215 EFO:0007401 HP:0001562 ICD10:O41.0 ICD10:O41.00 ICD9:658.0 ICD9:658.00 MESH:D016104 SCTID:59566000 antepartum oligohydramnios delivered oligohydramnios oligohydramnios oligohydramnios - delivered MONDO:0005881 Consider obsoleting as represents a finding oligohydramnios (disease) A disease involving the placenta. DOID:780 EFO:0007441 GARD:0007402 ICD10:O43 ICD10:O43.9 ICD10:O43.90 ICD9:646.9 ICD9:656.70 MESH:D010922 NCIT:C26857 SCTID:125586008 disease of placenta disease or disorder of placenta disorder of placenta placenta disease placenta disease or disorder placenta diseases placenta disorder placenta disorders placental disorder disease, placenta disease, placental diseases, placenta diseases, placental disorder, placenta disorders, placenta placental disease placental diseases MONDO:0005917 placenta disease Infection of the kidney due to mycobacteria. COHD:193955 DOID:9733 EFO:0007463 ICD9:016.0 ICD9:016.00 MESH:D014398 NCIT:C123020 SCTID:44323002 UMLS:C0041328 kidney tuberculosis tuberculosis of kidney MONDO:0005938 renal tuberculosis A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas. DOID:5875 EFO:0007466 ICD10:C48 ICD10:C48.0 ICD9:158 ICD9:158.0 MESH:D012186 NCIT:C3537 SCTID:126872008 cancer of retroperitoneal space malignant neoplasm of retroperitoneal space malignant neoplasm of retroperitoneum and peritoneum malignant retroperitoneal neoplasm malignant retroperitoneal space neoplasm malignant tumor of peritoneum and retroperitoneum neoplasm of retroperitoneum neoplasm of the retroperitoneum retroperitoneal neoplasm retroperitoneal space cancer tumor of retroperitoneum malignant neoplasm of retroperitoneum malignant retroperitoneal cancer MONDO:0005941 retroperitoneal cancer A general term for mycobacterium infections of any part of the urogenital system in either the male or the female. COHD:73686 DOID:2149 EFO:0007531 ICD10:A18.1 ICD10:A18.10 ICD9:016 ICD9:016.9 ICD9:016.90 ICD9:016.92 MESH:D014401 SCTID:4445009 UMLS:C0041333 genitourinary system tuberculosis genitourinary tuberculosis MONDO:0006002 Editor note: in ORDO this is classified 'rare disorder with obstructive azoospermia' but this is male specific, so we move to the male-specific subclass urogenital tuberculosis An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic. COHD:435517 EFO:1000014 HP:0001941 ICD9:276.2 SCTID:51387008 acidosis MONDO:0006022 acidosis disorder Autosomal recessive form of disease. DOID:0050737 EFO:1000017 ICD9:758.5 SCTID:85995004 UMLS:C0265388 autosomal recessive disease or disorder autosomal recessive hereditary disease autosomal recessive hereditary disorder autosomal recessive inherited disease autosomal recessive inherited disorder disease or disorder, autosomal recessive disease, autosomal recessive recessive hereditary disorder (autosomal) MONDO:0006025 autosomal recessive disease A disease involving the urinary bladder. COHD:201337 DOID:365 EFO:1000018 ICD10:N32.9 ICD9:596.8 ICD9:596.9 MESH:D001745 NCIT:C2900 SCTID:42643001 UMLS:C0005686 bladder disease bladder disorder disease of urinary bladder disease or disorder of urinary bladder disorder of urinary bladder urinary bladder disease urinary bladder disease or disorder urinary bladder disorder MONDO:0006026 urinary bladder disease Inflammation of the urinary bladder. COHD:195588 DOID:1679 EFO:1000025 ICD10:N30 ICD10:N30.9 ICD9:595 ICD9:595.89 ICD9:595.9 MESH:D003556 NCIT:C26738 SCTID:38822007 UMLS:C0010692 bladder infection inflammation of urinary bladder urinary bladder inflammation MONDO:0006032 cystitis Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia. DOID:11664 EFO:1000041 GARD:0007179 ICD10:I12 ICD10:N26.9 ICD9:587 MESH:D009400 SCTID:32916005 UMLS:C0027719 renal sclerosis MONDO:0006044 nephrosclerosis https://rarediseases.info.nih.gov/diseases/7179/nephrosclerosis A leiomyoma that involves the kidney. EFO:1000050 kidney leiomyoma leiomyoma of kidney MONDO:0006053 renal leiomyoma A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system. EFO:1000051 NCIT:C3674 UMLS:C0178830 neoplasm of reproductive system neoplasm of the reproductive system reproductive neoplasm reproductive system neoplasm reproductive system neoplasm (disease) reproductive system tumor reproductive tumor tumor of reproductive system tumor of the reproductive system MONDO:0006054 reproductive system neoplasm An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. EFO:1000056 GARD:0007892 MESH:D009396 NCIT:C3267 UMLS:CN244940 Wilms tumor Wilms tumor (nephroblastoma) Wilms' tumor MONDO:0006058 Wilms tumor A benign mesenchymal neoplasm arising from smooth muscle tissue. EFO:1000121 NCIT:C6510 UMLS:C1332539 benign neoplasm of smooth muscle benign neoplasm of the smooth muscle benign smooth muscle neoplasm benign smooth muscle tumor benign tumor of smooth muscle benign tumor of the smooth muscle smooth muscle tissue benign neoplasm MONDO:0006106 benign smooth muscle neoplasm An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension. EFO:1000208 NCIT:C48449 UMLS:C1707525 cortisol producing adrenal cortex adenoma cortisol producing adrenal cortical adenoma cortisol-producing adrenal cortex adenoma MONDO:0006174 cortisol-producing adrenal cortex adenoma A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts. EFO:1000255 NCIT:C7075 fibroblastic neoplasm fibroblastic tumor fibrocytic neoplasm fibrocytic tumor fibrogenic neoplasm fibrogenicTumor fibrous neoplasm fibrous tumor MONDO:0006209 fibroblastic neoplasm A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis. MONDO:0017888 EFO:1000314 GARD:0013175 ICD10:C64 MedDRA:10064886 NCIT:C7572 ONCOTREE:MRC Orphanet:319319 UMLS:CN203938 carcinoma of renal medulla kidney medullary carcinoma renal medulla carcinoma renal medullary carcinoma MONDO:0006260 kidney medullary carcinoma A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas. DOID:3996 EFO:1000363 ICD10:C64.C68 ICD10:C68.9 ICD9:189.9 NCIT:C9297 SCTID:448233000 cancer of renal system malignant neoplasm of renal system malignant renal system neoplasm malignant urinary system neoplasm malignant urinary tract neoplasm renal system cancer urinary system cancer urothelial tract/bladder cancer, NOS urothelial/bladder cancer, NOS MONDO:0006295 malignant urinary system neoplasm A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients. DOID:6404 EFO:1000373 ICDO:8191/0 ICDO:8325/0 NCIT:C27253 UMLS:C1266045 metanephric adenoma metanephric adenoma (morphologic abnormality) MONDO:0006301 metanephric adenoma A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis. DOID:4012 EFO:1000450 ICDO:8130/3 NCIT:C4122 UMLS:C0334274 papillary transitional carcinoma papillary transitional cell carcinoma papillary transitional cell carcinoma (morphologic abnormality) MONDO:0006350 papillary transitional cell carcinoma A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis. DOID:2643 EFO:1000464 MESH:D054973 NCIT:C38150 ONCOTREE:PECOMA UMLS:C1300127 PEComa neoplasm with perivascular epithelioid cell differentiation tumor with perivascular epithelioid cell differentiation perivascular epithelioid cell tumor MONDO:0006359 MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002). neoplasm with perivascular epithelioid cell differentiation A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. EFO:1000508 ICDO:0000/0 NCIT:C27891 ONCOTREE:TRCC UMLS:C1337036 TFE3-Rearranged renal cell carcinoma Xp11.2 translocation-related renal cell carcinoma renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions tRCC translocation-associated renal cell carcinoma MONDO:0006397 renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present. DOID:4015 EFO:1000520 ICDO:8032/3 ICDO:8033/3 NCIT:C27004 UMLS:C0205697 carcinoma, spindle cell, malignant pseudosarcomatous carcinoma sarcomatoid carcinoma spindle cell carcinoma spindle cell carcinoma (morphologic abnormality) MONDO:0006406 sarcomatoid carcinoma A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. EFO:1000541 NCIT:C3377 ONCOTREE:SOFTTISSUE SCTID:387837005 neoplasm of soft tissue neoplasm of the soft tissue soft tissue neoplasm soft tissue tumor soft tissue tumors tumor of soft tissue tumor of the soft tissue SOFTTISSUE soft tissue neoplasm, NOS MONDO:0006424 soft tissue neoplasm Wilms tumor of the kidney characterized by the predominance of the mesenchymal component. DOID:5191 EFO:1000551 NCIT:C9148 UMLS:C0279610 stromal predominant Wilms tumor stromal predominant kidney Wilms tumor stromal predominant kidney Wilms' tumor stromal predominant kidney adenosarcoma stromal predominant nephroblastoma stromal predominant renal Wilm's tumor stromal predominant renal Wilms tumor stromal predominant renal Wilms' tumor stromal predominant renal adenosarcoma MONDO:0006432 stromal predominant kidney Wilms tumor A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries. DOID:2671 EFO:1000601 GARD:0007794 ICDO:8120/3 MESH:D002295 NCIT:C2930 UMLS:C0007138 carcinoma of transitional epithelial cell carcinoma of urothelial cell carcinoma, urothelial, malignant transitional carcinoma transitional cell carcinoma transitional cell tumor transitional epithelial cell carcinoma urothelial cell carcinoma transitional cell neoplasm MONDO:0006474 transitional cell carcinoma https://rarediseases.info.nih.gov/diseases/7794/transitional-cell-carcinoma A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology. EFO:1000603 NCIT:C27892 ONCOTREE:URCC UMLS:C1336853 unclassified renal cell cancer unclassified renal cell carcinoma URCC MONDO:0006475 unclassified renal cell carcinoma A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma. DOID:6171 EFO:1000613 MESH:D012192 NCIT:C42700 ONCOTREE:UCS SCTID:702369008 UMLS:C0280630 carcinosarcoma of the uterus malignant mixed mesodermal (Mullerian) tumor of the uterus malignant mixed mesodermal (Müllerian) tumor of the uterus mixed mullerian sarcoma of uterus uterine carcinosarcoma uterine malignant mixed mesodermal (Mullerian) tumor uterine malignant mixed mesodermal (Müllerian) tumor uterus carcinosarcoma uterine carcinosarcoma/uterine malignant mixed mullerian tumor MONDO:0006485 uterine carcinosarcoma A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45) EFO:1000631 MESH:D010243 Wikipedia:Palsy Plegia Plegias MONDO:0006496 palsy A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern. EFO:1000634 HP:0010566 ICD9:759.6 MESH:D006222 NCIT:C3075 SCTID:400006008 UMLS:C0018552 hamartoma MONDO:0006499 hamartoma (disease) An instance of metabolic disease that is acquired during the lifetime of the individual. DOID:0060158 EFO:1000639 acquired metabolic disease MONDO:0006504 acquired metabolic disease A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma. DOID:3113 EFO:1000646 ICDO:8050/3 MESH:D002291 NCIT:C2927 UMLS:C0007133 papillary carcinoma papillary carcinoma (morphologic abnormality) papillary carcinoma NOS (morphologic abnormality) MONDO:0006509 papillary carcinoma Genetic defects in the selective or non-selective transport functions of the kidney tubules. DOID:447 EFO:1000647 MESH:D015499 UMLS:C0035091 disorder of renal absorption inborn renal tubular transport disorder renal absorption disease kidney tubular transport, inborn error kidney tubular transport, inborn errors renal tubular transport errors renal tubular transport, inborn error MONDO:0006510 renal tubular transport disease A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor). EFO:1000654 NCIT:C4005 UMLS:C0278704 childhood cancer childhood malignant neoplasm childhood neoplasm, malignant malignant childhood neoplasm malignant childhood tumor malignant neoplasm malignant pediatric neoplasm malignant pediatric tumor pediatric cancer malignant neoplasm MONDO:0006517 childhood malignant neoplasm Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. COHD:4246290 DOID:2730 EFO:1000690 GARD:0006359 ICD10:Q81 ICD10:Q81.9 ICD9:757.39 MESH:D004820 NCIT:C67383 SCTID:61003004 Wikipedia:Epidermolysis_bullosa acantholysis bullosa epidermolysis bullosa EB MONDO:0006541 epidermolysis bullosa https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa SCTID:414032001 disorder of pigmentation MONDO:0006600 This class covers pigmentation disorders of the skin, as well as those affecting the eyes pigmentation disease A disease involving the sebaceous gland. DOID:9098 EFO:1000763 ICD10:L70.8 ICD9:706.1 MESH:D012625 SCTID:3441005 UMLS:C0036502 disease of sebaceous gland disease or disorder of sebaceous gland disorder of sebaceous gland sebaceous gland disease sebaceous gland disease or disorder disease of sebaceous glands MONDO:0006607 sebaceous gland disease Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) DOID:2731 EFO:1000774 MESH:D012872 UMLS:C0037275 vesiculobullous skin disease Sneddon Wilkinson disease Sneddon-Wilkinson disease skin diseases, vesicular subcorneal pustular dermatoses subcorneal pustular dermatosis bullous dermatoses bullous skin disease bullous skin diseases dermatoses, bullous dermatoses, subcorneal pustular dermatoses, vesiculobullous dermatosis, subcorneal pustular pustular dermatoses, subcorneal pustular dermatosis, subcorneal skin disease, bullous skin disease, vesicular skin disease, vesiculobullous skin diseases, bullous vesicular skin disease vesicular skin diseases vesiculobullous dermatoses vesiculobullous skin diseases MONDO:0006617 vesiculobullous skin disease A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction. DOID:9743 EFO:1000783 ICD9:250.6 MESH:D003929 NCIT:C26748 SCTID:230572002 UMLS:C0011882 MONDO:0006626 diabetic neuropathy Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. COHD:444044 DOID:12556 EFO:1000794 HP:0008682 ICD10:N17.0 ICD9:584.5 MESH:D007683 MedDRA:10023441 NCIT:C34749 SCTID:35455006 UMLS:C0022672 ATN - acute tubular necrosis acute renal failure with lesion of tubular necrosis acute renal failure with tubular necrosis acute tubular necrosis acute tubule necrosis MONDO:0006637 acute kidney tubular necrosis A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. DOID:3948 DOID:3959 DOID:660 EFO:1000796 GARD:0000558 HP:0006744 ICD10:C74.0 ICDO:8370/3 MedDRA:10001388 NCIT:C9325 ONCOTREE:ACC Orphanet:1501 SCTID:255035007 UMLS:C0206686 adenocarcinoma, adrenocortical, malignant adrenal cortex adenocarcinoma adrenal cortex cancer adrenal cortex carcinoma adrenal cortical adenocarcinoma adrenal cortical carcinoma adrenal cortical carcinoma (morphologic abnormality) adrenal cortical tumors adrenocortical cancer adrenocortical carcinoma adrenocortical carcinoma (disease) cancer of the adrenal cortex carcinoma of adrenal cortex carcinoma of the adrenal cortex carcinoma, adrenocortical, malignant cortical cell carcinoma malignant adrenocortical tumor malignant neoplasm of adrenal cortex malignant tumour of adrenal cortex neoplasm of adrenal cortex ACC adrenocortical carcinoma, NOS MONDO:0006639 adrenal cortex carcinoma Excess production of adrenal cortex hormones. DOID:3947 EFO:1000797 GARD:0008252 HP:0003118 ICD9:255.3 MESH:D000308 SCTID:275437005 UMLS:C0001622 UMLS:CN205287 adrenal gland hyperfunction adrenocortical hyperfunction hyperadrenalism hypercortisolemia hypercortisolism disorder of corticoadrenal overactivity hyperadrenocorticism hypercorticism hyperfunction, adrenal gland hyperfunction, adrenocortical MONDO:0006640 Editor note: consider obsoleting as is phenotypic feature adrenal gland hyperfunction Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. COHD:373487 DOID:12010 EFO:1000809 GARD:0009790 ICD10:H47.01 ICD9:377.41 MESH:D018917 MedDRA:10068250 SCTID:404659001 UMLS:C0155305 ischemic optic neuropathy aion optic disc infarction leading to vision loss MONDO:0006649 anterior ischemic optic neuropathy https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy Inflammation of the iris and anterior chamber of the eye. CSP:1114-9593 DOID:1407 EFO:1000811 GARD:0010941 HP:0012122 ICD10:H20.0 ICD10:H20.1 ICD10:H20.2 ICD10:H20.8 ICD10:H20.9 MESH:D014606 MedDRA:10002709 NCIT:C35109 Orphanet:280886 SCTID:410692006 UMLS:C0042165 anterior uveitis iridocyclitis MONDO:0006651 anterior uveitis (disease) A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer. DOID:9809 EFO:1000974 ICD10:D69.0 ICD10:M31.0 ICD9:446.2 ICD9:446.20 ICD9:446.29 MedDRA:10020764 NCIT:C82863 SCTID:60555002 leukocytoclastic vasculitis MONDO:0006794 hypersensitivity vasculitis Any disorder of the joints. COHD:73553 DOID:381 EFO:1000999 ICD10:M00-M02 ICD10:M12.9 ICD10:M15.M19 ICD10:M19.90 ICD10:M25.9 ICD9:711 ICD9:716.80 ICD9:716.88 ICD9:716.9 ICD9:716.90 ICD9:716.98 ICD9:719.80 ICD9:719.88 ICD9:719.89 ICD9:719.9 ICD9:719.90 ICD9:719.98 MESH:D007592 MedDRA:10003285 NCIT:C35760 SCTID:399269003 UMLS:C0022408 Joint ankylosis of the ankle and/or foot Joint disorder ankylosis of joint of ankle and/or foot ankylosis of joint of forearm ankylosis of joint of hand ankylosis of joint of lower leg ankylosis of joint of upper arm arthropathy disease of skeletal joint disease or disorder of skeletal joint disorder of skeletal joint disorder, Joint skeletal joint disease skeletal joint disease or disorder Joint ankylosis of the ankle and foot Joint ankylosis of the forearm Joint ankylosis of the hand Joint ankylosis of the lower leg Joint ankylosis of the pelvic region and thigh Joint ankylosis of the shoulder region Joint ankylosis of the upper arm ankylosis of ankle and foot joint ankylosis of forearm joint ankylosis of hand joint ankylosis of joint of multiple sites ankylosis of joint of pelvic region and thigh ankylosis of joint of shoulder region ankylosis of lower leg joint ankylosis of multiple joints ankylosis of upper arm joint infectious arthropathy arthrosis disorder of joint joint disease joint disorder MONDO:0006816 arthropathy Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity. COHD:40480627 DOID:2973 EFO:1001003 ICD10:N17.1 ICD9:583.6 MESH:D007673 MedDRA:10023414 SCTID:444691002 renal cortical necrosis MONDO:0006820 kidney cortex necrosis A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure. COHD:444409 DOID:2981 EFO:1001004 ICD9:583.7 MESH:D007681 MedDRA:10028865 SCTID:90241004 UMLS:C0022667 necrotizing renal papillitis papillary necrosis renal papillitis necrotizing MONDO:0006821 kidney papillary necrosis The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma. DOID:1577 EFO:1001017 MESH:D045745 SCTID:299276009 UMLS:C0748540 limited cutaneous systemic sclerosis systemic sclerosis, limited MONDO:0006832 limited scleroderma A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome. DOID:10966 EFO:1001020 GARD:0009147 ICD10:N04 MESH:D009402 MedDRA:10058325 NCIT:C34844 SCTID:44785005 UMLS:C0027721 lipoid nephrosis minimal change disease minimal change glomerulonephritis minimal change nephropathy nephrotic syndrome with lesion of minimal change glomerulonephritis nephrotic syndrome with lesion of minimal change nephrotic syndrome nil disease MCNS idiopathic minimal change nephrotic syndrome minimal change glomerulopathy minimal change nephrotic syndrome MONDO:0006835 lipoid nephrosis Severe hypertension that is characterized by rapid onset of extremely high blood pressure. MHT DOID:10824 EFO:1001031 MESH:D006974 MedDRA:10025600 SCTID:70272006 UMLS:C0020540 UMLS:C0745136 accelerated-malignant hypertension hypertensive emergency malignant phase hypertension MONDO:0006846 malignant hypertension A disease involving the mouth. DOID:403 EFO:1001047 ICD9:528.9 MESH:D009059 NCIT:C3240 SCTID:118938008 UMLS:C0026636 disease of mouth disease or disorder of mouth disorder of mouth mouth disease mouth disease or disorder oral disease oral disorder MONDO:0006858 mouth disease A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) DOID:5113 EFO:1001067 ICD10:E40.E46 ICD9:269.8 ICD9:269.9 MESH:D003677 MedDRA:10046058 NCIT:C3669 SCTID:363246002 SCTID:70241007 malnourished malnutrition MONDO:0006873 nutritional deficiency disease Inflammation of the connective and adipose tissues surrounding the kidney. DOID:2982 EFO:1001099 MESH:D010501 MedDRA:10072058 SCTID:111404004 UMLS:C0031065 inflammation of perirenal fat perirenal fat inflammation MONDO:0006900 perinephritis Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis. DOID:12574 EFO:1001119 GARD:0004457 MESH:D015866 MedDRA:10036370 SCTID:43363007 chorioretinal region inflammation inflammation of chorioretinal region uveitis, posterior MONDO:0006918 Editor note: choroid=PU. in MESH PUitis is defined to be choroid+retina+VB, and isa panuveitis. TODO check ORDO, GARD posterior uveitis Inflammation of the renal pelvis. DOID:2744 EFO:1001140 ICD10:N12 MESH:D011702 MedDRA:10037584 NCIT:C34964 SCTID:27174002 UMLS:C0034183 inflammation of renal pelvis renal pelvis inflammation MONDO:0006938 pyelitis An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. COHD:198199 DOID:11400 EFO:1001141 GARD:0012020 ICD10:N10-N16 ICD10:N12 ICD10:N16 ICD9:590.80 MESH:D011704 MedDRA:10037596 NCIT:C34965 SCTID:45816000 UMLS:C0034186 kidney infection pyometrium MONDO:0006939 pyelonephritis A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved. EFO:1001149 MESH:D000608 MedDRA:10001939 SCTID:35912001 MONDO:0006944 renal aminoaciduria Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular). DOID:2972 EFO:1001150 ICD10:N28.0 MESH:D012078 UMLS:C0035066 MONDO:0006945 renal artery obstruction Abnormalities of bone mineral metabolism associated with chronic kidney disease. COHD:197921 DOID:13068 EFO:1001152 GARD:0007551 ICD10:N25.0 ICD9:588.0 MESH:D012080 MedDRA:10038489 SCTID:16726004 UMLS:C0035086 renal rickets Osteodystrophies, renal osteodystrophy, renal renal Osteodystrophies rickets, renal MONDO:0006946 renal osteodystrophy High blood pressure secondary to renal artery stenosis. COHD:317895 DOID:1591 EFO:1001153 HP:0100817 ICD10:I15.0 ICD9:405.91 SCTID:123799005 UMLS:C0020545 renovascular hypertension MONDO:0006947 renovascular hypertension (disease) Overproduction of parathyroid hormone in response to influence external to the parathyroid glands. COHD:138388 DOID:12466 EFO:1001173 HP:0000867 MESH:D006962 MedDRA:10020708 NCIT:C113335 SCTID:91478007 UMLS:C0020503 secondary hyperparathyroidism secondary hyperparathyroidism NOS MONDO:0006964 secondary hyperparathyroidism (disease) A benign or malignant myomatous neoplasm arising from smooth muscle. DOID:4310 EFO:1001185 MESH:D018235 NCIT:C3751 UMLS:C0206658 neoplasm of smooth muscle neoplasm of the smooth muscle smooth muscle neoplasm smooth muscle tumor tumor of smooth muscle tumor of the smooth muscle MONDO:0006975 smooth muscle tumor A disease involving the calcareous tooth. DOID:1091 EFO:1001216 MESH:D014076 NCIT:C35077 SCTID:234947003 UMLS:C0040435 calcareous tooth disease calcareous tooth disease or disorder dental disorder disease of calcareous tooth disease or disorder of calcareous tooth disorder of calcareous tooth tooth disorder MONDO:0006999 tooth disease Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa. DOID:1557 EFO:1001222 MESH:D007105 MedDRA:10045265 NCIT:C114346 UMLS:C0020951 disorder of type III hypersensitivity immune complex disease type 3 hypersensitivity reaction type III hypersensitivity type III hypersensitivity reaction hypersensitivity reaction type III disease MONDO:0007004 type III hypersensitivity disease A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms. DOID:4676 EFO:1001226 ICD10:N19 MESH:D014511 MedDRA:10046369 SCTID:44730006 UMLS:C0041948 uremia of renal origin MONDO:0007008 uremia Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. DOID:11401 EFO:1001244 GARD:0012021 ICD9:582.89 MESH:D011705 MedDRA:10074389 NCIT:C123038 SCTID:38898003 UMLS:C0034188 xanthogranulomatous pyelonephritis MONDO:0007022 xanthogranulomatous pyelonephritis Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). DOID:14702 EFO:1001251 GARD:0010147 ICD10:Q87.8 ICD9:759.89 MESH:D019280 MedDRA:10071135 NCIT:C98983 Orphanet:107 SCTID:290006 UMLS:C0265234 UMLS:CN043574 Wikipedia:Branchio-oto-renal_syndrome Branchio-Oto-renal syndrome Branchio-otorenal dysplasia Melnick-Fraser syndrome branchiootorenal dysplasia branchiootorenal syndrome Branchio oto renal syndrome bor syndrome MONDO:0007029 (from orpha.net)nSummarynnBranchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required. branchio-oto-renal syndrome Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes. DOID:0060889 GARD:0007479 ICD10:Q79.4 ICD9:756.71 MESH:D011535 MedDRA:10051025 NCIT:C85033 OMIM:100100 Orphanet:2970 SCTID:5187006 UMLS:C0033770 Obrinsky syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome eagle-Barret syndrome prune belly syndrome syndrome of agenesis of abdominal muscles triad syndrome PBS abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism eagle-Barrett syndrome MONDO:0007032 prune belly syndrome A condition that is characterized by degeneration of the distal phalanges. MESH:D030981 NCIT:C35545 OMIM:102400 SCTID:27201004 acroosteolysis MONDO:0007056 acroosteolysis Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. DOID:2736 GARD:0000508 ICD10:M89.5 ICD9:756.59 MESH:C535663 NCIT:C84745 OMIM:102500 Orphanet:955 SCTID:63122002 UMLS:C0917715 UMLS:C2930971 Arthrodentoosteodysplasia Cheney syndrome Hajdu-Cheney syndrome acrodentoosteodysplasia acroosteolysis with osteoporosis and changes in skull and mandible HJCYS serpentine fibula-polycystic kidney syndrome serpentine fibula-polycystic kidneys syndrome MONDO:0007057 acroosteolysis dominant type https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. DOID:0060347 ICD10:Q87.2 MESH:C563159 OMIM:102520 Orphanet:971 SCTID:720458005 UMLS:C3495490 UMLS:CN206860 acrorenal syndrome MONDO:0007059 acrorenal syndrome Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO). DOID:0080053 GARD:0005770 GARD:0007486 ICD10:E20.1 ICD9:275.49 MESH:C537045 NCIT:C129721 OMIM:103580 Orphanet:79443 SCTID:58833000 UMLS:C2931404 UMLS:C3494506 AHO-PHP syndrome Ia Albright hereditary osteodystrophy Albright hereditary osteodystrophy with multiple hormone resistance Albright hereditary osteodystrophy-PHP syndrome Ia Albright's hereditary osteodystrophy PHP1A pseudohypoparathyroidism type 1A AHO PHP 1A pseudohypoparathyroidism, type 1A pseudohypoparathyroidism, type IA MONDO:0007078 pseudohypoparathyroidism type 1A Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol. DOID:14080 GARD:0002790 ICD10:E26.0 ICD10:E26.02 ICD9:255.11 MESH:C563177 OMIM:103900 Orphanet:403 UMLS:C1260386 UMLS:C3838731 FH-I FH1 GRA dexamethasone-sensitive hypertension familial hyperaldosteronism type 1 glucocorticoid-remediable aldosteronism glucocorticoid-sensitive hypertension ACTH-dependent hyperaldosteronism syndrome FH 1 HALD1 aldosteronism, sensitive to dexamethasone dexamethasone sensitive hypertension familial hyperaldosteronism type I glucocorticoid sensitive hypertension glucocorticoid-suppressible hyperaldosteronism hyperaldosteronism, familial type 1 hyperaldosteronism, familial, type 1 hyperaldosteronism, familial, type I MONDO:0007080 glucocorticoid-remediable aldosteronism https://rarediseases.info.nih.gov/diseases/2790/glucocorticoid-remediable-aldosteronism Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell. DOID:0110032 GARD:0000624 ICD10:Q87.8 OMIM:104200 Orphanet:88918 SCTID:717766000 Alport syndrome, autosomal dominant Alport syndrome dominant type renal failure and sensorineural hearing loss MONDO:0007086 autosomal dominant Alport syndrome https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome DOID:0050636 GARD:0008282 ICD10:E85.0 ICD9:277.39 MESH:C538249 OMIM:105200 Orphanet:85450 SCTID:66451004 UMLS:C0268389 German type amyloidosis Ostertag type amyloidosis amyloidosis, Ostertag type amyloidosis, familial renal familial amyloid nephropathy familial renal amyloidosis hereditary amyloid nephropathy hereditary renal amyloidosis systemic nonneuropathic amyloidosis amyloidosis 8 amyloidosis VIII amyloidosis familial renal amyloidosis familial visceral amyloidosis systemic nonneuropathic amyloidosis, familial visceral amyloidosis, systemic Nonneuropathic hereditary amyloidosis with primary renal involement MONDO:0007099 familial visceral amyloidosis https://rarediseases.info.nih.gov/diseases/8282/amyloidosis-familial-visceral Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart. DOID:0050887 GARD:0007784 ICD10:Q87.8 ICD9:759.89 MESH:C536974 NCIT:C99085 OMIMPS:107480 Orphanet:857 SCTID:24750000 UMLS:C0265246 UMLS:CN034849 TBS Townes syndrome Townes-Brocks syndrome imperforate anus with hand, foot and ear anomalies rear syndrome renal-ear-anal-radial syndrome sensorineural deafness with imperforate anus and hypoplastic thumbs TBS1 Townes-Brocks syndrome 1 Townes-Brocks-branchiootorenal-like syndrome anus, imperforate, with hand, foot and ear anomalies anus, imperforate, with hand, foot, and Ear anomalies deafness, sensorineural, with imperforate anus and hypoplastic thumbs deafness, sensorineural, with imperforate anus and thumb anomalies renal-Ear-anal-radial syndrome MONDO:0007142 Townes-Brocks syndrome https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). COHD:434621 DOID:417 EFO:0005140 ICD9:279.4 ICD9:279.49 ICD9:720 MESH:D001327 NCIT:C2889 OBI:1110054 OMIM:109100 SCTID:85828009 UMLS:C0004364 autoimmune disease autoimmune disease or disorder autoimmune disorder disease, autoimmune autoimmune hypersensitivity disease hypersensitivity reaction type II disease MONDO:0007179 Editor note: check OMIM autoimmune disease Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. COHD:436642 DOID:13241 EFO:0003780 GARD:0000848 ICD10:M35.2 ICD9:136.1 MESH:D001528 MedDRA:10004213 NCIT:C34416 OMIM:109650 Orphanet:117 SCTID:310701003 UMLS:C0004943 Adamantiades-Behcet disease Bechet syndrome Behcet disease Behcet syndrome Behcet's syndrome Behet's syndrome Behçet disease Behçet syndrome Behçet's syndrome Behçet-Adamantiades syndrome Morbus Behçet's syndrome silk road disease triple symptom complex BD Behcet's disease Behçet's disease Behçet’s disease MONDO:0007191 Behcet disease Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50. DOID:0111247 GARD:0000967 ICD10:Q73.8 MESH:C537095 OMIM:112410 Orphanet:1276 SCTID:720568003 UMLS:C1862170 Bilginturan brachydactyly Bilginturan syndrome brachydactyly type E, with short stature and hypertension HTNB brachydactyly type E with short stature and hypertension brachydactyly with hypertension brachydactyly, type E, with short stature and hypertension hypertension and brachydactyly syndrome MONDO:0007211 brachydactyly-arterial hypertension syndrome DOID:0111423 OMIM:113650 branchiootorenal syndrome 1 branchiootorenal syndrome type 1 BOR1 Melnick-Fraser syndrome branchiootorenal dysplasia MONDO:0007236 branchiootorenal syndrome 1 Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. GARD:0000026 ICD10:Q92.8 MESH:C535918 NCIT:C75477 OMIM:115470 Orphanet:195 SCTID:26445008 UMLS:C0265493 CES CAT eye syndrome Inv dup(22)(q11) Schmid-Fraccaro syndrome chromosome 22 partial tetrasomy MONDO:0007276 cat-eye syndrome https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. DOID:9245 GARD:0000804 ICD10:Q44.7 ICD9:759.89 MESH:D016738 MedDRA:10053870 NCIT:C35139 OMIMPS:118450 Orphanet:52 SCTID:31742004 UMLS:C0085280 Alagille syndrome Alagille-Watson syndrome Arteriohepatic dysplasia syndromic bile duct paucity Cardiovertebral syndrome Hepatofacioneurocardiovertebral syndrome Watson Alagille syndrome Watson-Miller syndrome hepatic ductular hypoplasia paucity of interlobular bile ducts MONDO:0007318 Alagille syndrome Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. DOID:0090006 GARD:0004106 ICD10:Q60.4 ICD9:759.89 MESH:C537168 NCIT:C123230 OMIM:120330 Orphanet:1475 SCTID:446449009 UMLS:C1852759 CAKUT with or without ocular abnormalities Papillo-renal syndrome coloboInOwlma of optic nerve with renal disease congenital anomalies of the kidney and urinary tract with or without ocular abnormalities optic coloboInOwlma, vesicoureteral reflux and renal anomalies papillo-renal syndrome, optic nerve coloboInOwlma with renal disease papillorenal syndrome renal-coloboInOwlma syndrome with macular abnormalities PAPILLORENAL syndrome PAPRS optic coloboInOwlma, vesicoureteral reflux, and renal anomalies optic nerve coloboInOwlma with renal disease renal-coloboInOwlma syndrome MONDO:0007352 renal coloboma syndrome https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia. GARD:0006386 ICD10:D89.1 ICD9:273.2 MESH:C565141 MedDRA:10027756 OMIM:123550 Orphanet:91138 SCTID:190815001 UMLS:C0272258 UMLS:C0340992 UMLS:C0343208 UMLS:C1852456 MC essential cryoglobulinemia essential mixed cryoglobulinemia mixed cryoglobulinemia primary cryoglobulinemia Meltzer syndrome cryoglobulinemia, familial mixed familial mixed cryoglobulinemia MONDO:0007407 Cryoglobulinemic vasculitis A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease. DOID:3052 EFO:0007164 GARD:0008576 ICD10:N15.0 ICD9:583.89 MESH:D001449 NCIT:C123025 OMIM:124100 SCTID:26121002 UMLS:C0004698 UMLS:C4049993 Balkan endemic nephropathy Chinese herb endemic nephropathy Danubian endemic familial nephropathy aristolochic acid nephropathy endemic nephropathy AAN BEN DEFN nephropathia epidemica MONDO:0007416 Balkan nephropathy Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood). ICD10:Q87.0 ICD9:759.89 OMIM:125520 Orphanet:1166 SCTID:51409009 isolated asymmetric crying facies Cayler cardiofacial syndrome asymmetric crying facies depressor anguli oris muscle, hypoplasia of facial paresis, partial, unilateral MONDO:0007443 Editor note: TODO check relationship to 22q11.2 deletion syndrome congenital unilateral hypoplasia of depressor anguli oris Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. DOID:12388 ICD10:E23.2 NCIT:C84933 OMIM:125700 Orphanet:30925 SCTID:45369008 ADH deficiency AVP deficiency Arginine vasopressin deficiency antidiuretic hormone deficiency central diabetes insipidus diabetes insipidus of pituitary gland hereditary CDI hereditary neurogenic diabetes insipidus neurogenic diabetes insipidus pituitary diabetes insipidus pituitary gland diabetes insipidus vasopressin defective diabetes insipidus vasopressin deficiency diabetes insipidus, cranial type diabetes insipidus, neurohypophyseal diabetes insipidus, primary central hereditary central diabetes insipidus MONDO:0007450 neurohypophyseal diabetes insipidus OMIM:125800 UMLS:C1563706 diabetes insipidus, nephrogenic, autosomal diabetes insipidus, nephrogenic, type 2 MONDO:0007451 diabetes insipidus, nephrogenic, autosomal Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis. GARD:0001994 ICD10:Q87.8 MESH:C565080 OMIM:127350 Orphanet:1765 UMLS:C1851986 dyschondrosteosis and nephritis dyschondrosteosis nephritis mesomelic shortening and hereditary nephritis MONDO:0007482 dyschondrosteosis-nephritis syndrome https://rarediseases.info.nih.gov/diseases/1994/dyschondrosteosis-nephritis An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3. DOID:0060784 ICD10:Q82.4 MESH:C565062 OMIM:129900 EEC syndrome 1 EEC1 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1 EEC ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1 MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. DOID:5572 GARD:0003343 ICD10:Q87.3 ICD9:759.89 MESH:D001506 MedDRA:10050344 NCIT:C34415 OMIM:130650 Orphanet:116 SCTID:81780002 UMLS:C0004903 BWS Beckwith-Wiedemann syndrome Wiedemann-Beckwith syndrome exomphalos-macroglossia-gigantism syndrome Beckwith-Wiedemann syndrome chromosome region EMG syndrome Wiedemann-Beckwith syndrome (WBS) exomphalos macroglossia gigantism syndrome MONDO:0007534 Beckwith-Wiedemann syndrome https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones. GARD:0009118 ICD10:E72.0 NCIT:C123229 Orphanet:3337 primary Fanconi renotubular syndrome FRTS1 Fanconi renotubular syndrome 1 MONDO:0007600 primary Fanconi syndrome https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome MESH:C565021 OMIM:134610 UMLS:C1851347 familial Mediterranean fever, autosomal dominant Fmf, autosomal dominant MONDO:0007601 familial Mediterranean fever, autosomal dominant Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977. DOID:0050676 EFO:1001273 GARD:0002322 ICD9:704.8 MESH:D058249 MedDRA:10067736 NCIT:C28244 OMIM:135150 Orphanet:122 SCTID:110985001 UMLS:C0346010 Birt-Hogg-Dube syndrome fibrofolliculomas with trichodiscomas and acrochordons BHD BHD syndrome Birt Hogg Dube syndrome Birt-Hogg-Dubé syndrome Hornstein-Knickenberg syndrome MONDO:0007607 Birt-Hogg-Dube syndrome Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. GARD:0006450 ICD10:E78.6 OMIM:136120 Orphanet:79292 SCTID:238092004 UMLS:C0342895 fed fish eye disease partial LCAT deficiency LCATA deficiency alpha-LCAT deficiency alpha-lecithin cholesterol acyltransferase deficiency alpha-lecithin:cholesterol acyltransferase deficiency dyslipoproteinemic corneal dystrophy fish-eye disease MONDO:0007620 fish eye disease https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. DOID:0050438 GARD:0002375 ICD10:N04.1 ICD9:759.89 MESH:D052159 NCIT:C122805 OMIM:136680 Orphanet:347 SCTID:445431000 UMLS:C0950122 Frasier syndrome MONDO:0007635 Frasier syndrome https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. DOID:0111101 GARD:0010221 ICD10:E11.2 MESH:C535520 NCIT:C123018 OMIM:137920 Orphanet:93111 SCTID:446641003 UMLS:C0431693 UMLS:CN206512 CAKUT with diabetes HNF1B-MODY HNF1B-related renal cysts and diabetes syndrome MODY5 RCAD RCAD syndrome atypical FJHN atypical familial juvenile hyperuricemic nephropathy congenital anomalies of the kidney and urinary tract with diabetes familial hypoplastic glomerulocystic kidney hepatocyte nuclear Factor 1-beta-associated monogenic diabetes hypoplastic type glomerulocystic kidney disease maturity onset diabetes of the Young, type 5 renal cysts and diabetes syndrome renal cysts-maturity-onset diabetes of the young syndrome renal dysfunction-early-onset diabetes syndrome FJHN atypical FJHN, atypical MODY type 5 glomerulocystic kidney disease, hypoplastic type glomerulocystic kidney, familial hypoplastic hyperuricemic nephropathy, familial juvenile, atypical maturity-onset diabetes of the Young, type 5 maturity-onset diabetes of the young type 5 MONDO:0007669 renal cysts and diabetes syndrome https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5 Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. GARD:0012827 Orphanet:69735 hypotrichosis lymphedema telangiectasia syndrome MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. DC:0000174 GARD:0009268 ICD10:N07.6 MESH:C536826 MESH:C562900 OMIMPS:137950 Orphanet:84090 SCTID:236535001 GFND fibronectin glomerulopathy glomerulopathy with fibronectin deposits GFND1 GFND2 glomerular nephritis, familial, with fibronectin deposits glomerulopathy with fibronectin deposits 1 glomerulopathy with fibronectin deposits 2 glomerulopathy with giant fibrillar deposits lobular glomerulopathy, familial MONDO:0007671 Editor note: consider splitting out type 1, and also separate class for giant subtype fibronectin glomerulopathy https://rarediseases.info.nih.gov/diseases/9268/glomerulopathy-with-fibronectin-deposits-1 Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy. COHD:4037874 ICD10:Q62.0 ICD9:753.29 MedDRA:10050975 NCIT:C102979 Orphanet:2190 SCTID:16297002 UMLS:C0266316 MONDO:0007741 Editor note: TODO check relationship to OMIM:143400 congenital hydronephrosis ICD9:V18.19 MESH:C562790 OMIM:143870 SCTID:237886009 hypercalciuria, absorptive, 2 hypercalciuria, absorptive, type 2 HCA2 hypercalciuria, familial idiopathic MONDO:0007748 hypercalciuria, absorptive, 2 A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis. ICD10:E83.5 NCIT:C129734 Orphanet:300547 SCTID:34225008 UMLS:C4329374 UMLS:CN203398 autosomal recessive hypercalcemia, infantile familial infantile hypercalcemia with suppressed intact parathyroid hormone hypercalcemia, infantile, autosomal recessive idiopathic infantile hypercalcemia hypercalcemia, idiopathic, of infancy hypercalcemia, infantile MONDO:0007749 autosomal recessive infantile hypercalcemia DOID:0050387 ICD10:C64 OMIM:144700 Orphanet:319276 CCRCC clear cell renal cell adenocarcinoma clear cell renal cell carcinoma RCC adenocarcinoma of kidney hypernephroma nonpapillary renal carcinoma 1 locus renal cell carcinoma, nonpapillary MONDO:0007763 nonpapillary renal cell carcinoma https://github.com/monarch-initiative/mondo/issues/2262 An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. GARD:0010829 ICD10:E21.0 NCIT:C48287 OMIM:145001 Orphanet:99880 SCTID:702378002 UMLS:C1704981 HPT-JT hyperparathyroidism type 2 hyperparathyroidism-2 hyperparathyroidism-jaw tumor syndrome HRPT2 familial primary hyperparathyroidism with multiple ossifying jaw fibromas hereditary hyperparathyroidism-jaw tumor syndrome hyperparathyroidism 2 hyperparathyroidism 2 with jaw tumors hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas hyperparathyroidism-jaw tumor syndrome, hereditary parathyroid adenomatosis, familial cystic MONDO:0007768 hyperparathyroidism 2 with jaw tumors https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome ICD10:I15.1 OMIM:145260 Orphanet:88938 SCTID:703254001 UMLS:C1840389 PHA2A Gordon hyperkalemia-hypertension syndrome hyperpotassemia and hypertension, familial hypertensive hyperkalemia, familial pseudohypoaldosteronism, type IIA MONDO:0007772 pseudohypoaldosteronism type 2A An instance of essential hypertension that is caused by a modification of the individual's genome. OMIM:145500 genetic essential hypertension Eht hypertension, essential MONDO:0007781 essential hypertension, genetic The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. DOID:0060878 GARD:0002911 ICD10:Q87.8 MESH:C537907 NCIT:C130983 OMIM:146255 Orphanet:2237 SCTID:724282009 UMLS:C1840333 Barakat syndrome HDR syndrome hypoparathyroidism, deafness, and renal anomalies syndrome hypoparathyroidism, sensorineural deafness, and renal disease HDR hypoparathyroidism, sensorineural deafness, and renal dysplasia hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome nephrosis, nerve deafness, and hypoparathyroidism MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. DOID:9248 GARD:0007305 ICD10:D33.0 ICD9:759.89 MESH:D054975 NCIT:C84987 OMIM:146510 Orphanet:672 SCTID:56677004 UMLS:C0265220 PHS Pallister Hall syndrome Pallister-Hall syndrome ano-cerebro-digital syndrome hypothalamic hamartoblastoma syndrome hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly MONDO:0007804 Pallister-hall syndrome https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome GARD:0010097 MESH:C537006 OMIM:150700 UMLS:C1835488 leiomyoma of vulva and esophagus esophagogastric and vulvar leiomyomatosis leiomyomatosis, esophagogastric and vulvar MONDO:0007887 leiomyoma of vulva and esophagus https://rarediseases.info.nih.gov/diseases/10097/leiomyoma-of-vulva-and-esophagus Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. GARD:0003218 GARD:0010096 ICD10:C64 MESH:C535516 NCIT:C51302 OMIM:150800 Orphanet:523 UMLS:C1708350 UMLS:CN073087 UMLS:CN239164 HLRCC MCUL Reed syndrome familial leiomyomatosis familial leiomyomatosis and renal cell cancer familial leiomyomatosis cutis et uteri familial leiomyomatosis with renal carcinoma familial multiple cutaneous leiomyomas hereditary leiomyomatosis hereditary leiomyomatosis and renal cell cancer hereditary leiomyomatosis and renal cell cancer syndrome hereditary leiomyomatosis and renal cell carcinoma hereditary leiomyomatosis with renal carcinoma hereditary multiple cutaneous leiomyomas multiple cutaneous and uterine leiomyomas LRCC Reed's syndrome leiomyoma, multiple cutaneous leiomyomatosis and renal cell cancer, hereditary leiomyomatosis familial multiple cutaneous and uterine leiomyomata multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma multiple cutaneous leiomyomata MONDO:0007888 hereditary leiomyomatosis and renal cell cancer https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. COHD:257628 DOID:9074 EFO:0002690 HP:0002725 ICD10:M32 ICD10:M32.0 ICD10:M32.1 ICD10:M32.8 ICD10:M32.9 ICD9:710.0 KEGG:05322 MESH:D008180 NCIT:C3201 OMIM:152700 Orphanet:536 SCTID:55464009 SLE SLE - lupus erythematosus, systemic disseminated lupus erythematosus lupus erythematosus, systemic systemic lupus erythematosus excess LMW-DNA excess lymphocyte low molecular weight DNA MONDO:0007915 systemic lupus erythematosus (disease) Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. DOID:0060885 GARD:0003350 ICD10:E83.4 MESH:C537152 OMIM:154020 Orphanet:34528 SCTID:725393000 UMLS:C1835171 UMLS:C4511005 FXYD2 familial primary hypomagnesemia FXYD2 primary hypomagnesemia HOMG2 familial primary hypomagnesemia caused by mutation in FXYD2 isolated autosomal dominant hypomagnesemia isolated renal magnesium wasting primary hypomagnesemia caused by mutation in FXYD2 renal hypomagnesemia type 2 autosomal dominant primary hypomagnesemia with hypocalciuria hypomagnesemia 2, renal magnesium loss, isolated renal magnesium wasting, renal MONDO:0007937 renal hypomagnesemia 2 https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2 An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene. GARD:0000179 ICD9:582.89 ICD9:759.89 MESH:C537831 NCIT:C131639 NCIT:C131642 NCIT:C131646 NCIT:C131650 OMIM:153640 OMIM:153650 OMIM:155100 OMIM:600208 OMIM:605249 Orphanet:1019 Orphanet:1984 Orphanet:807 Orphanet:850 SCTID:234484005 SCTID:234485006 SCTID:236422008 UMLS:C0398641 UMLS:C0403445 UMLS:C1834478 UMLS:CN226018 UMLS:CN226030 UMLS:CN226270 Epstein syndrome Fechtner syndrome May-Hegglin anomaly May-Hegglin thrombocytopenia Sebastian syndrome giant platelet syndrome with thrombocytopenia macrothrombocytopenia and progressive sensorineural deafness Alport syndrome with macrothrombocytopenia Alport syndrome with macrothrombocytopenia, formerly Brodie Chole griffin syndrome Dohle leukocyte inclusions with giant platelets FTNS MHA SBS Sebastian Platelet syndrome bleeding disorder, Platelet-type, 6 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss macrothrombocytopenia progressive deafness macrothrombocytopenia with dispersed leukocytic inclusions macrothrombocytopenia with leukocyte inclusions macrothrombocytopenia, nephritis, and deafness macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions matins MONDO:0007954 May-Hegglin anomaly Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis. DOID:0060610 GARD:0003442 ICD10:Q43.8 MESH:C536138 NCIT:C98982 OMIM:249210 Orphanet:2241 SCTID:253781004 UMLS:C1608393 MMIH syndrome MMIHS megacystis, microcolon, hypoperistalsis syndrome megacystis, microcolon, intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Berdon syndrome megacystis microcolon intestinal hypoperistalsis syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome visceral myopathy MONDO:0007960 megacystis-microcolon-intestinal hypoperistalsis syndrome Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations. DOID:14203 EFO:0000557 GARD:0006805 ICD10:M33.0 MESH:C000598745 MedDRA:10008521 NCIT:C27576 OMIM:160750 Orphanet:93672 SCTID:1212005 UMLS:C2931785 childhood dermatomyositis inflammation of myoseptum juvenile DM juvenile dermatomyositis myoseptum inflammation myoseptumitis JDM JPM childhood type dermatomyositis juvenile myositis myopathy, familial idiopathic inflammatory myositis MONDO:0008054 juvenile dermatomyositis https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. DOID:9467 GARD:0007160 ICD10:Q87.2 ICD9:759.89 MESH:D009261 MedDRA:10063431 NCIT:C75120 OMIM:161200 Orphanet:2614 SCTID:22199006 UMLS:C0027341 Fong disease Onychoosteodysplasia Turner-Kieser syndrome Turner-Kiser syndrome hereditary Osteo-onychodysplasia hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome nail-patella syndrome Arthro-onychodysplasia NPS NPS 1 Nps1 Osteo-onychodysplasia MONDO:0008061 nail-patella syndrome https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome ICD10:I15.1 ICD9:583.9 MESH:C562889 OMIM:161900 Orphanet:88659 SCTID:703310005 UMLS:C0403443 UMLS:C3839782 RFH1 nephritis, familial, without deafness or ocular defect nephropathy, familial renal failure, adult-onset renal failure, progressive, with hypertension MONDO:0008071 autosomal dominant progressive nephropathy with hypertension GARD:0000863 OMIM:161950 IGAN1 IgA nephropathy, susceptibility to, 1 Igan berger disease glomerulonephritis, IgA nephritis, IgA type MONDO:0008072 IGAN1 Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age. familial juvenile gouty nephropathy familial nephropathy with gout gouty nephropathy, familial juvenile hyperuricemic nephropathy, familial juvenile nephropathy, familial, with gout GARD:0006806 OMIM:162000 Orphanet:209886 UMLS:CN239214 FJHN type 1 HNFJ1 UMOD familial juvenile hyperuricemic nephropathy UMOD-associated FJHN UMOD-associated familial juvenile hyperuricemic nephropathy UMOD-related kidney disease familial juvenile hyperuricemic nephropathy caused by mutation in UMOD hyperuricemic nephropathy, familial juvenile 1 hyperuricemic nephropathy, familial juvenile, 1 hyperuricemic nephropathy, familial juvenile, type 1 uromodulin storage disease uromodulin-associated kidney disease familial juvenile hyperuricaemic nephropathy MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 https://rarediseases.info.nih.gov/diseases/6806/familial-juvenile-hyperuricaemic-nephropathy DOID:0111253 MESH:C563523 OMIM:162210 UMLS:C1834235 neurofibromatosis, familial spinal Fsnf MONDO:0008078 neurofibromatosis, familial spinal Noonan syndrome caused by mutations in the PTPN11 gene. DOID:0060578 GARD:0007223 NCIT:C75459 OMIM:163950 NS1 Noonan syndrome 1 Noonan syndrome type 1 Male Turner syndrome Noonan syndrome Turner phenotype with normal karyotype female pseudo-Turner syndrome pterygium colli syndrome MONDO:0008104 Noonan syndrome 1 Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. DOID:0111534 GARD:0003818 GARD:0013042 MESH:C567171 OMIM:166300 Orphanet:2774 SCTID:766992008 UMLS:C2674705 idiopathic multicentric osteolysis with or without nephropathy multicentric carpo-tarsal osteolysis with or without nephropathy Carnevale canun Mendoza syndrome MCTO multicentric carpotarsal osteolysis syndrome multicentric osteolysis nephropathy multicentric osteolysis, autosomal dominant osteolysis, hereditary, of carpal bones with or without nephropathy MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy https://rarediseases.info.nih.gov/diseases/3818/multicentric-osteolysis-nephropathy The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins. COHD:201620 COHD:4148260 DOID:585 EFO:0003845 EFO:0004253 ICD10:N20 ICD10:N20.2 ICD9:592 MESH:D053040 NCIT:C114667 SCTID:266556005 UMLS:C0156257 UMLS:C0392525 Stone - kidney/ureter calculus of kidney and ureter kidney stone kidney stones nephrolithiasis, calcium oxalate renal calculi urolithiasis, calcium oxalate CAON MONDO:0008171 nephrolithiasis Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene. DOID:0110858 MESH:C536326 OMIM:173900 SCTID:253878003 UMLS:C3149841 APKD1 PKD1 PKD1 autosomal dominant polycystic kidney disease autosomal dominant polycystic kidney disease caused by mutation in PKD1 polycystic kidney disease 1 polycystic kidney disease type 1 polycystic kidney disease, adult, type I Potter type 3 polycystic kidney disease Potter type 3 polycystic kidney disease, formerly polycystic kidney disease 1 with or without polycystic liver disease polycystic kidney disease, adult polycystic kidney disease, adult, type 1 MONDO:0008263 polycystic kidney disease 1 A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1). EFO:0008617 GARD:0010801 ICD10:Q61.5 MEDGEN:358137 MEDGEN:881357 MESH:C536137 Orphanet:34149 SCTID:444699000 UMLS:C4054549 UMLS:C4511620 UMLS:CN204412 UMLS:CN536252 ADTKD autosomal dominant interstitial kidney disease autosomal dominant medullary cystic kidney disease autosomal dominant medullary cystic kidney disease with or without hyperuricemia MCKD autosomal dominant tubulointerstitial kidney disease medullary cystic disease medullary cystic kidney disease polycystic kidneys, medullary type MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone. DOID:0050477 GARD:0007381 ICD10:I15.1 MESH:D056929 MedDRA:10037113 MedDRA:10052313 NCIT:C84827 OMIMPS:177200 Orphanet:526 SCTID:707747007 UMLS:C0221043 Liddle syndrome Liddle's syndrome pseudoaldosteronism pseudohyperaldosteronism type 1 LIDLS MONDO:0008323 Liddle syndrome https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney. DOID:0060855 GARD:0009145 ICD10:N25.8 NCIT:C126810 OMIM:177735 Orphanet:171871 UMLS:C1449842 PHA1A autosomal dominant PHA 1 autosomal dominant pseudohypoaldosteronism type 1 PHA I, autosomal dominant pseudohypoaldosteronism type 1 autosomal dominant pseudohypoaldosteronism type 1, dominant pseudohypoaldosteronism, type I, autosomal dominant renal PHA1 renal pseudohypoaldosteronism type 1 MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 https://rarediseases.info.nih.gov/diseases/9145/autosomal-dominant-pseudohypoaldosteronism-type-1 Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown. ICD10:I27.0 Orphanet:422 UMLS:CN205068 IFPAH pulmonary hypertension, primary, type 1 PPH1 pulmonary hypertension, primary, 1 MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. GARD:0004668 ICD10:N25.8 OMIM:179800 Orphanet:93608 AD dRTA autosomal dominant distal renal tubular acidosis (disease) distal renal tubular acidosis (disease), autosomal dominant RTA, classic type RTA, distal type, autosomal dominant RTA, gradient type autosomal dominant SLC4A1-associated distal renal tubular acidosis renal tubular acidosis 1 renal tubular acidosis, distal, autosomal dominant MONDO:0008368 autosomal dominant distal renal tubular acidosis Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis. ICD10:N25.8 ICD9:588.89 MedDRA:10037080 OMIM:179830 Orphanet:47159 SCTID:24790002 Type 2 RTA Type 2 renal tubular acidosis pRTA renal tubular acidosis type 2 RTA, proximal type RTA, rate type renal tubular acidosis 2 renal tubular acidosis, proximal MONDO:0008369 proximal renal tubular acidosis Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene. ICD10:Q87.2 NCIT:C153290 OMIM:180849 Orphanet:353277 CREBBP Rubinstein-Taybi syndrome RSTS1 Rubinstein-Taybi syndrome 1 Rubinstein-Taybi syndrome caused by mutation in CREBBP Rubinstein-Taybi syndrome type 1 RSTS Rubinstein syndrome broad thumb-hallux syndrome broad thumbs and great toes, characteristic facies, and intellectual disability broad thumbs and great toes, characteristic facies, and mental retardation MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations OMIM:181750 UMLS:C1866983 scleroderma, familial progressive Crest syndrome systemic sclerosis, susceptibility to MONDO:0008418 scleroderma, familial progressive This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. GARD:0002342 MESH:C537937 OMIM:182690 Orphanet:2820 UMLS:C2931667 Fitzsimmons-Walson-Mellor syndrome Fitzsimmons Walson Mellor syndrome spastic paraplegia - nephritis - deafness spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome https://rarediseases.info.nih.gov/diseases/2342/fitzsimmons-walson-mellor-syndrome Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. GARD:0002727 ICD10:Q87.8 MESH:C566655 OMIM:184705 Orphanet:3186 SCTID:716233007 UMLS:C1866649 Steinfeld syndrome STEINFELD syndrome holoprosencephaly radial heart renal anomalies MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome https://rarediseases.info.nih.gov/diseases/2727/steinfeld-syndrome SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis. DOID:1929 GARD:0000743 HP:0004381 ICD10:Q25.3 MedDRA:10042598 OMIM:185500 Orphanet:3193 SCTID:268185002 UMLS:C0003499 SVAS supra-valvular aortic stenosis supravalvular aortic stenosis aortic supravalvular stenosis supravalvar aortic stenosis, Eisenberg type MONDO:0008504 supravalvular aortic stenosis (disease) Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries. DOID:13375 EFO:1001209 GARD:0009615 ICD10:M31.6 ICD9:446.5 MedDRA:10018250 MedDRA:10043207 NCIT:C35065 OMIM:187360 Orphanet:397 SCTID:400130008 UMLS:C1956391 Horton disease Horton's disease giant cell arteritis inflammation of temporal artery temporal arteritis temporal artery inflammation GCA Horton's arteritis Horton's giant cell arteritis Horton's temporal arteritis Horton’s disease Horton’s syndrome arteritis cranialis arteritis temporalis cranial arteritis polymyalgia rheumatica MONDO:0008538 temporal arteritis MESH:C566065 OMIM:187550 UMLS:C1861232 thalassemia, beta+, silent allele MONDO:0008545 thalassemia, beta+, silent allele An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. COHD:4120621 DOID:8924 EFO:0007160 GARD:0005194 ICD10:D69.3 ICD9:287.31 MedDRA:10021245 NCIT:C3446 OMIM:188030 Orphanet:3002 ITP autoimmune thrombocytopenic purpura idiopathic thrombocytopenia idiopathic thrombocytopenia purpura idiopathic thrombocytopenic purpura immune thrombocytopenia primary thrombocytopenic purpura thrombocytopenic purpura, autoimmune AITP Ideopath thrombocytopenic pur idiopathic purpura immune thrombocytopenic purpura thrombocytopenic purpura autoimmune werlhof's disease MONDO:0008558 autoimmune thrombocytopenic purpura A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. DOID:11198 GTR:AN1145678 ICD10:D82.1 ICD9:279.11 MESH:D004062 NCIT:C2989 OMIM:188400 SCTID:77128003 UMLS:CN734570 22q deletion syndrome(s) 22q11.2 Deletion syndrome DGS DGS1 Di-George syndrome DiGeorge anomaly DiGeorge sequence DiGeorge syndrome DiGeorge syndrome type 1 DiGeorge's syndrome Shprintzen syndrome Sphrintzen pharyngeal pouch syndrome Catch22 DiGeorge syndrome chromosome region Takao VCF syndrome VCF chromosome 22Q11.2 deletion syndrome hypoplasia of thymus and parathyroids third and fourth pharyngeal pouch syndrome velo-cardio-facial syndrome velocardiofacial syndrome MONDO:0008564 DiGeorge syndrome HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also includemedications needed for the mother or baby, and blood transfusion for severe bleeding problems. DOID:13133 EFO:0007297 GARD:0008528 ICD10:O14.2 MESH:D017359 MedDRA:10049058 NCIT:C84750 OMIM:189800 Orphanet:244242 UMLS:C0162739 hemolysis, elevated liver enzymes, low platelets in pregnancy hemolysis-elevated liver enzymes-Low Platelet count syndrome hemolysis-elevated liver enzymes-low platelets syndrome PEE1 PREECLAMPSIA/eclampsia 1 Preg1 hemolysis, elevated liver enzymes, and Low Platelet count hemolysis, elevated liver enzymes, lowered platelets hypertension, pregnancy-induced pee toxemia of pregnancy MONDO:0008585 HELLP syndrome https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene). DOID:0080324 GARD:0005380 NCIT:C75122 OMIM:191100 TSC1 tuberous sclerosis tuberous sclerosis 1 tuberous sclerosis caused by mutation in TSC1 tuberous sclerosis type 1 TSC1 tuberose sclerosis tuberous sclerosis Complex tuberous sclerosis, type 1 MONDO:0008612 tuberous sclerosis 1 Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). DOID:0050854 GARD:0008472 ICD10:E85.0 ICD9:708.8 MedDRA:10064569 NCIT:C119054 OMIM:191900 Orphanet:575 SCTID:402417009 UMLS:C0268390 UMLS:C1304205 Muckle-Wells syndrome neutrophilic urticaria Cryopyrin-associated periodic syndrome 2 MUCKLE-Wells syndrome MWS Muckle Wells syndrome Uda syndrome urticaria, deafness and amyloidosis urticaria-deafness-amyloidosis syndrome MONDO:0008633 Muckle-Wells syndrome Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. MESH:C566010 OMIM:192050 Orphanet:3411 SCTID:722431007 Double uterus and obstructed hemivagina syndrome Herlyn-Werner syndrome OHVIRA syndrome Wunderlich syndrome obstructed hemivagina and ipsilateral renal anomaly uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction. DOID:0111567 GARD:0001217 GARD:0002558 GARD:0010535 MESH:C566007 OMIM:192315 Orphanet:247691 SCTID:720854004 SCTID:721141004 UMLS:C1860518 RVCL RVCL-S hereditary vascular retinopathy retinal vasculopathy and cerebral leukoencephalopathy ADRVCL CRV HVR autosomal dominant retinal vasculopathy with cerebral leukodystrophy cerebroretinal vasculopathy cerebroretinal vasculopathy, hereditary grand Kaine fulling syndrome grand-Kaine-fulling syndrome retinal vasculopathy with cerebral leukodystrophy retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena vasculopathy, retinal, with cerebral leukodystrophy MONDO:0008641 Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukodystrophy https://rarediseases.info.nih.gov/diseases/2558/grand-kaine-fulling-syndrome VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. DOID:14679 GARD:0005443 ICD10:Q87.2 ICD9:759.89 MedDRA:10053665 MedDRA:10066022 NCIT:C99105 OMIM:192350 Orphanet:887 SCTID:27742002 UMLS:C0220708 UMLS:C1735591 UMLS:CN206312 VACTERL association VATER association vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome VATER syndrome VATER/VACTERL association MONDO:0008642 VACTERL/vater association A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. DOID:12583 ICD10:Q93.81 ICD9:758.32 OMIM:192430 UMLS:CN205308 22q11 deletion syndrome Shprintzen syndrome VCF-velocardiofacial syndrome deletion 22q11.2 syndrome velocardiofacial syndrome Shprintzen Vcf syndrome Vcf syndrome chromosome 22Q11.2 deletion syndrome MONDO:0008644 velocardiofacial syndrome Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma. DOID:14175 GARD:0007855 ICD10:Q85.8 ICD9:759.6 MESH:D006623 MedDRA:10047716 NCIT:C3105 OMIM:193300 Orphanet:892 SCTID:46659004 UMLS:C0019562 Hippel Lindau syndrome Lindau disease VHL Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome (VHL) cerebroretinal angiomatosis familial cerebelloretinal angiomatosis von Hippel-Lindau syndrome VHL syndrome VON Hippel-Lindau syndrome Von Hippel Lindau disease Von Hippel-Lindau syndrome, Modifiers of MONDO:0008667 von Hippel-Lindau disease https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) DOID:1928 GARD:0007891 ICD10:Q87.8 ICD9:759.89 MESH:D018980 MedDRA:10049644 NCIT:C85232 OMIM:194050 Orphanet:904 SCTID:63247009 UMLS:C0175702 Fanconi Schlesinger syndrome Williams syndrome Williams-Beuren syndrome Williams-Beuren syndrome (WBS) deletion 7q11.23 monosomy 7q11.23 WBS WMS chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb MONDO:0008678 Williams syndrome Wilms' tumor renal Wilms tumor OMIM:194070 UMLS:CN033288 Wilms tumor type 1 WT1 Wilms tumor 1 nephroblastoma MONDO:0008679 Wilms tumor 1 GARD:0008559 MESH:C536853 OMIM:194071 Wilms tumor 2 Wilms tumor type 2 FWT2 WT2 familial Wilms tumor 2 MONDO:0008680 Wilms tumor 2 https://rarediseases.info.nih.gov/diseases/8559/familial-wilms-tumor-2 WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor. DOID:14515 GARD:0001732 GARD:0005528 ICD10:Q87.8 MESH:D017624 NCIT:C3718 OMIM:194072 Orphanet:893 SCTID:715215007 UMLS:C0206115 UMLS:C2931803 11p partial monosomy syndrome Del(11)(p13) WAGR syndrome Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome chromosome 11p13 deletion syndrome deletion 11p13 monosomy 11p13 11p deletion 11p deletion syndrome 11p monosomy AGR triad WAGR WAGR Complex Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome chromosome 11P13 deletion syndrome chromosome 11p deletion chromosome 11p deletion syndrome deletion 11p monosomy 11p partial monosomy 11p MONDO:0008681 WAGR syndrome https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma. DOID:3764 GARD:0005576 ICD10:N04.1 ICD9:189.0 MESH:D030321 MedDRA:10070179 NCIT:C84668 OMIM:194080 Orphanet:220 SCTID:236385009 UMLS:C0950121 UMLS:C3151568 Denys Drash syndrome Denys-Drash syndrome Drash syndrome Wilms tumor and pseudohermaphroditism nephrotic syndrome type 4 DDS Wilms tumor and pseudo- or true hermaphroditism nephropathy associated with male pseudohermaphroditism and Wilms' tumor nephropathy, Wilms tumor, and genital anomalies pseudohermaphroditism, nephron disorder and Wilms' tumor MONDO:0008682 Denys-Drash syndrome MESH:C565991 OMIM:194090 UMLS:C1860265 Wilms tumor 3 WT3 MONDO:0008683 Wilms tumor 3 Autosomal recessive form of acrorenal syndrome. GARD:0000514 MESH:C535666 OMIM:201310 UMLS:C0796290 acrorenal syndrome, autosomal recessive autosomal recessive acrorenal syndrome Curran syndrome acrorenal syndrome autosomal recessive acrorenal syndrome recessive MONDO:0008719 acrorenal syndrome, autosomal recessive An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome. OMIM:202300 UMLS:C1859972 adrenocortical carcinoma, hereditary hereditary adrenal cortex carcinoma ADCC adrenocortical carcinoma, pediatric MONDO:0008734 adrenocortical carcinoma, hereditary Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response. GARD:0010682 ICD10:E20.1 ICD9:275.49 MESH:C548077 OMIM:203330 Orphanet:94090 SCTID:42183005 UMLS:C2932717 UMLS:CN206737 PHP II PHP2 Php 2 pseudohypoparathyroidism, type II MONDO:0008749 pseudohypoparathyroidism type 2 https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2 Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed. DOID:0110033 GARD:0000625 ICD10:Q87.8 MedDRA:10001843 OMIM:203780 Orphanet:88919 SCTID:717767009 Alport syndrome, autosomal recessive Alport syndrome autosomal recessive Alport syndrome recessive type nephropathy and deafness MONDO:0008762 autosomal recessive Alport syndrome https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome AlstrC6m syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. DOID:0050473 GARD:0005787 ICD10:Q87.8 ICD9:759.89 MESH:D056769 MedDRA:10068783 NCIT:C84549 OMIM:203800 Orphanet:64 SCTID:63702009 UMLS:C0268425 Alstrom syndrome Alström syndrome Alss Alstrom's syndrome alms MONDO:0008763 Alstrom syndrome Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. DOID:0110066 GARD:0000646 GARD:0009860 ICD10:K00.5 ICD9:520.5 MESH:C538241 OMIM:204690 Orphanet:1031 SCTID:109477002 AI1G AIGFS FAM20A amelogenesis imperfecta amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta caused by mutation in FAM20A amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type Ig enamel-renal syndrome enamel-renal-gingival syndrome ers absent enamel, nephrocalcinosis and apparently normal calcium metabolism amelogenesis imperfecta and nephrocalcinosis amelogenesis imperfecta hypoplastic type, Ig amelogenesis imperfecta nephrocalcinosis amelogenesis imperfecta, hypoplastic, with nephrocalcinosis amelogenesis imperfecta, type 1G amelogenesis imperfecta, type Ig amelogenesis imperfecta-nephrocalcinosis syndrome enamel renal syndrome generalized enamel hypoplasia and renal dysfunction MONDO:0008771 amelogenesis imperfecta type 1G Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. GARD:0000690 ICD10:Q87.8 MESH:C000598722 OMIM:206750 Orphanet:1064 SCTID:733116005 UMLS:C1859782 Sommer-Rathbun-Battles syndrome Sommer Rathbun Battles syndrome aniridia partial with unilateral renal agenesis and psychomotor retardation aniridia renal agenesis psychomotor retardation aniridia, partial, with unilateral renal agenesis and psychomotor retardation MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait. GARD:0008509 ICD10:Q87.8 ICD9:753.3 MESH:C537427 OMIM:207780 Orphanet:1133 SCTID:237610008 UMLS:C0342280 acrorenal defect-ectodermal dysplasia-diabetes syndrome AREDYLD acral renal ectodermal dysplasia lipoatrophic diabetes acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes MONDO:0008812 AREDYLD syndrome Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene. DOID:0111353 OMIM:208085 VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome arthrogryposis, renal dysfunction, and cholestasis 1 arthrogryposis, renal dysfunction, and cholestasis type 1 arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B ARCS1 Arc syndrome MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. DOID:0090124 GARD:0000790 ICD10:Q74.3 MESH:C536614 OMIM:208100 Orphanet:1143 SCTID:715316005 UMLS:C1859721 AMC neurogenic type AMCN arthrogryposis multiplex congenita neurogenic type neurogenic arthrogryposis multiplex congenita AMC, neurogenic type arthrogryposis multiplex congenita, neurogenic type neurogenic type of AMC MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type An asphyxiating thoracic dystrophy associated with variation in the region 15q13. DOID:0110085 ICD10:Q77.2 OMIM:208500 UMLS:CN119532 ATD1 SRTD1 asphyxiating thoracic dystrophy 1 asphyxiating thoracic dystrophy type 1 short-rib thoracic dysplasia 1 with or without polydactyly Jeune syndrome thoracic-pelvic-phalangeal dystrophy MONDO:0008831 asphyxiating thoracic dystrophy 1 A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12. DOID:0060856 GARD:0006795 HP:0011536 ICD10:Q20.6 MedDRA:10068335 OMIM:208530 Orphanet:97548 Ivemark syndrome asplenia with cardiovascular anomalies right atrial isomerism Polyasplenia RAI Vah, autosomal recessive asplenia syndrome bilateral right-sidedness sequence heterotaxy, Visceroatrial, autosomal recessive polysplenia syndrome right isomerism splenic agenesis syndrome MONDO:0008832 right atrial isomerism (disease) Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene. OMIM:208540 UMLS:C3715199 NPHP3 renal-hepatic-pancreatic dysplasia renal-hepatic-pancreatic dysplasia 1 renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3 renal-hepatic-pancreatic dysplasia type 1 RHPD1 Rhpd MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed. GARD:0002279 MESH:C565928 OMIM:209010 Orphanet:1192 SCTID:720519003 Feigenbaum-Bergeron-Richardson syndrome Feigenbaum Bergeron Richardson syndrome atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13. DOID:0110123 EFO:0009021 GARD:0000820 ICD10:Q87.89 MESH:C537909 OMIM:209900 UMLS:C2936862 BBS1 Bardet-Biedl syndrome 1 Bardet-Biedl syndrome type 1 MONDO:0008854 Bardet-Biedl syndrome 1 Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco. COHD:312939 DOID:12918 EFO:1001211 GARD:0005969 ICD10:I73.1 ICD9:443.1 MESH:D013919 MedDRA:10043540 NCIT:C35070 OMIM:211480 Orphanet:36258 SCTID:52403007 UMLS:C0040021 Buerger's disease presenile gangrene thromboangiitis obliterans thromboangiitis obliterans [Buerger's disease] BUERGER disease TAO inflammatory occlusive peripheral vascular disease occlusive peripheral vascular disease MONDO:0008889 thromboangiitis obliterans A malignant neoplasm involving the lung. DOID:1324 ICD10:C34.1 ICD10:C34.2 ICD10:C34.3 ICD9:162.3 ICD9:162.4 ICD9:162.5 ICD9:162.8 ICD9:162.9 NCIT:C7377 OMIM:211980 SCTID:363358000 cancer of lung lung cancer malignant lung neoplasm malignant lung tumor malignant neoplasm of lung malignant neoplasm of the lung malignant tumor of lung malignant tumor of the lung Nonsmall cell lung cancer alveolar cell carcinoma lung cancer, protection against lung neoplasm MONDO:0008903 lung cancer Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. GARD:0005177 MESH:C565867 OMIM:213010 Orphanet:2031 Thompson-Baraitser syndrome Thompson Baraitser syndrome cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome DOID:0080476 OMIM:214100 peroxisome biogenesis disorder 1A (Zellweger) Cerebrohepatorenal syndrome PBD1A Zs peroxisome biogenesis disorder, complementation group 1 peroxisome biogenesis disorder, complementation group E MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) DOID:0080477 OMIM:214110 UMLS:C3550273 peroxisome biogenesis disorder 2A (Zellweger) PBD2A peroxisome biogenesis disorder, complementation group 2 MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). DOID:0050834 GARD:0000029 ICD10:Q87.8 ICD10:Q89.8 ICD9:759.89 MESH:D058747 MedDRA:10064063 NCIT:C75100 OMIM:214800 Orphanet:138 SCTID:47535005 UMLS:C0265354 CHARGE association CHARGE syndrome Hall-Hittner syndrome coloboInOwlma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association coloboInOwlma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association coloboInOwlma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome Charge association--coloboInOwlma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies coloboInOwlma, heart anomaly, choanal atresia, retardation, genital and ear anomalies MONDO:0008965 CHARGE syndrome Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. DOID:0090121 GARD:0000433 ICD10:E26.1 MESH:C537422 NCIT:C131083 OMIM:218030 Orphanet:320 SCTID:703256004 UMLS:C2936861 UMLS:C3887949 UMLS:CN203981 11 Beta-hydroxysteroid dehydrogenase type 2 deficiency 11-beta-hydroxysteroid dehydrogenase deficiency type 2 Ulick syndrome ape apparent mineralocorticoid excess cortisol 11-beta-ketoreductase deficiency AME AME 1 Ame1 apparent mineralocorticoid EXCESS cortisol 11-Beta-ketoreductase deficiency MONDO:0009025 apparent mineralocorticoid excess https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). DOID:0050577 GARD:0000359 ICD10:Q87.5 ICD9:756.9 NCIT:C129305 OMIMPS:218330 Orphanet:1515 SCTID:254093009 UMLS:C0432235 UMLS:CN016627 UMLS:CN119432 CED Levin syndrome Sensenbrenner syndrome cranioectodermal dysplasia MONDO:0009032 cranioectodermal dysplasia A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose. GARD:0000817 GARD:0001599 MESH:C537906 MESH:C565663 OMIM:218650 UMLS:C1857472 UMLS:C2931663 Baraitser Rodeck garner syndrome craniosynostosis-intellectual disability-clefting syndrome craniosynostosis-mental retardation-clefting syndrome craniosynostosis intellectual disability clefting syndrome craniosynostosis mental retardation clefting syndrome craniosynostosis, intellectual disability, seizures, choroidal coloboInOwlma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose craniosynostosis, mental retardation, seizures, choroidal coloboInOwlma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose MONDO:0009041 craniosynostosis-mental retardation-clefting syndrome Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963. GARD:0001614 ICD10:Q87.8 MESH:C536216 OMIM:218900 Orphanet:1380 SCTID:722381004 UMLS:C0795914 crome syndrome congenital cataracts, renal tubular necrosis and encephalopathy in two sisters MONDO:0009045 cataract-nephropathy-encephalopathy syndrome Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly. DOID:0090001 GARD:0006465 ICD10:Q87.0 MESH:D058497 NCIT:C118436 OMIMPS:219000 Orphanet:2052 SCTID:204102004 UMLS:C0265233 Fraser syndrome cryptophthalmos with other malformations cryptophthalmos-syndactyly syndrome Fraser-Francois syndrome Meyer-Schwickerath's syndrome Ulrich-Feichtiger syndrome cryptophthalmos syndrome cryptophthalmos with Other malformations cyclopism MONDO:0009046 Fraser syndrome https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome DOID:0111625 OMIM:219730 Orphanet:443988 UMLS:C1857423 VMCKD congenital nephrosis-cerebral ventriculomegaly syndrome ventriculomegaly with cystic kidney disease MONDO:0009063 ventriculomegaly-cystic kidney disease Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. EFO:0009049 ICD10:E72.0+ ICD10:N16.3* MESH:C562683 OMIM:219900 Orphanet:411634 SCTID:22830006 UMLS:C0268626 intermediate cystinosis juvenile cystinosis cystinosis, intermediate cystinosis, late-onset juvenile or adolescent nephropathic type MONDO:0009066 juvenile nephropathic cystinosis Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones. DOID:9266 GARD:0006237 HP:0003131 ICD10:E72.0 ICD10:E72.01 MESH:D003555 MedDRA:10011778 NCIT:C84664 OMIM:220100 Orphanet:214 SCTID:85020001 UMLS:C0010691 cystinuria cystinuria-lysinuria syndrome CSNU cystinuria, type A/B cystinuria, type B cystinuria, type I cystinuria, type I, formerly cystinuria, type II cystinuria, type II, formerly cystinuria, type III cystinuria, type III, formerly cystinuria, type a cystinuria, type non-I cystinuria, type non-I, formerly cystinuria-lysinuria MONDO:0009067 cystinuria (disease) https://rarediseases.info.nih.gov/diseases/6237/cystinuria Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF). GARD:0009496 ICD9:790.6 MESH:C537757 Orphanet:94088 SCTID:236478009 Dalmatian hypouricemia hypouricemia, renal renal hypouricemia MONDO:0009071 hereditary renal hypouricemia This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. GARD:0000259 ICD10:N21.5 OMIM:221995 Orphanet:3145 SCTID:716200002 Schofer-Beetz-Bohl syndrome Schofer Beetz Bohl syndrome diabetes insipidus nephrogenic intellectual disability and intracerebral calcification diabetes insipidus nephrogenic mental retardation and intracerebral calcification diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome https://rarediseases.info.nih.gov/diseases/259/diabetes-insipidus-nephrogenic-mental-retardation-and-intracerebral-calcification Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. DOID:12714 GARD:0001301 ICD10:Q77.6 ICD9:756.55 MESH:D004613 MedDRA:10008724 NCIT:C84684 OMIM:225500 Orphanet:289 SCTID:62501005 UMLS:C0013903 UMLS:CN239258 Chondroectodermal dysplasia Ellis-van Creveld syndrome mesodermic dysplasia EVC Ellis Van Creveld syndrome Ellis-VAN Creveld syndrome Mesoectodermal dysplasia MONDO:0009162 Ellis-van Creveld syndrome https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. GARD:0002230 ICD10:Q87.8 MESH:C536388 OMIM:227280 Orphanet:1973 SCTID:723333000 UMLS:C0795936 Eastman-Bixler syndrome faciocardiorenal syndrome Eastman Bixler syndrome MONDO:0009205 faciocardiorenal syndrome https://rarediseases.info.nih.gov/diseases/2230/faciocardiorenal-syndrome Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. DOID:0111087 NCIT:C125704 OMIM:227645 UMLS:C3468041 FA3 FACC FANCC Fanconi Anemia, complementation group type C Fanconi anemia complementation group type C Fanconi pancytopenia type 3 Fanconi anemia, complementation group C Fanconi pancytopenia, type 3 facc MONDO:0009213 Fanconi anemia complementation group C Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. DOID:0111083 NCIT:C125706 OMIM:227646 UMLS:C3160738 FA4 FAD2 FANCD2 Fanconi pancytopenia type 4 Fad2 Fanconi Anemia, complementation group D Fanconi anemia, complementation group D2 Fanconi pancytopenia, type 4 MONDO:0009214 Fanconi anemia complementation group D2 Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway. DOID:0111095 EFO:0009044 GTR:AN1051558 NCIT:C125702 OMIM:227650 UMLS:CN653908 FANCA FANCA Fanconi anemia Fanconi Anemia, complementation group type a Fanconi anemia caused by mutation in FANCA Fanconi anemia complementation group type A Estren-Dameshek variant of Fanconi Anemia Estren-Dameshek variant of Fanconi pancytopenia Fanconi Anemia Fanconi Anemia, Estren-Dameshek variant Fanconi anemia, complementation group A MONDO:0009215 Fanconi anemia complementation group A Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. GARD:0002268 ICD10:E74.0 OMIM:227810 Orphanet:2088 SCTID:61598006 Bickel-Fanconi glycogenosis FBS Fanconi Bickel syndrome Fanconi syndrome with intestinal malabsorption and galactose intolerance Fanconi-Bickel disease Fanconi-Bickel syndrome GSD due to GLUT2 deficiency glycogen storage disease due to GLUT2 deficiency glycogenosis due to GLUT2 deficiency GLUT2 deficiency GSD type 11 GSD type XI glycogen storage disease 11 glycogen storage disease XI glycogen storage disease type 11 glycogen storage disease type XI glycogenosis Fanconi EXACT glycogenosis, Fanconi type hepatic glycogenosis with Fanconi nephropathy hepatic glycogenosis with amino aciduria and glucosuria hepatorenal glycogenosis with renal Fanconi syndrome hepatorenal glycogenosis with renal fanconi syndrome pseudo-phlorizin diabetes MONDO:0009216 glycogen storage disease due to GLUT2 deficiency https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. GARD:0000320 ICD10:Q87.8 MESH:C537226 OMIM:228940 Orphanet:2256 SCTID:716094008 UMLS:C1856727 Saito-Kuba-Tsuruta syndrome FIBULOULNAR aplasia or hypoplasia with renal abnormalities Fibulo ulnar hypoplasia renal anomalies Saito Kuba Tsuruta syndrome MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. DOID:9869 GARD:0006622 ICD10:E74.1 ICD10:E74.12 ICD9:271.2 MedDRA:10019878 NCIT:C84720 OMIM:229600 Orphanet:469 SCTID:20052008 UMLS:C0016751 Fructosaemia fructose intolerance fructose-1,6-bisphosphate aldolase B deficiency fructosemia hereditary fructose intolerance syndrome hereditary fructose-1-phosphate aldolase deficiency hereditary fructosemia Aldob deficiency aldolase B deficiency fructose intolerance, hereditary fructose-1-phosphate aldolase deficiency MONDO:0009249 hereditary fructose intolerance Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. DOID:14695 GARD:0002422 ICD10:E74.2 ICD10:E74.29 NCIT:C114767 OMIM:230200 Orphanet:79237 SCTID:124302001 UMLS:C0268155 GALK deficiency GALK-D galactokinase deficiency galactokinase deficiency galactosemia galactosemia II galactosemia type 2 Galk deficiency galactosemia 2 hereditary galactokinase deficiency MONDO:0009255 galactokinase deficiency https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. DOID:0111458 GARD:0005392 ICD10:E74.2 OMIM:230350 Orphanet:79238 SCTID:8849004 GALE deficiency GALE-D UDP-galactose-4-epimerase deficiency epimerase deficiency galactosemia galactose epimerase deficiency galactosemia type 3 uridine diphosphate galactose-4-epimerase deficiency Gale deficiency galactosemia 3 MONDO:0009257 galactose epimerase deficiency https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. DOID:0111459 ICD10:E74.2 OMIM:230400 Orphanet:79239 SCTID:10899004 GALT deficiency galactose-1-phosphate uridyltransferase deficiency galactosemia type 1 classical galactosemia, homozygous duarte-type Galt deficiency galactose-1-phosphate uridylyltransferase deficiency galactosemia galactosemia, Duarte variant galactosemia, classic MONDO:0009258 classic galactosemia Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency. GARD:0007864 ICD10:E74.0 MESH:C538655 OMIM:232200 Orphanet:79258 SCTID:444707001 UMLS:C2919796 UMLS:CN069618 UMLS:CN205860 G6P deficiency type 1a G6PC glycogen storage disease GSD due to G6P deficiency type 1a GSD due to G6P deficiency type Ia GSD type 1a GSDIa glycogen storage disease caused by mutation in G6PC glycogen storage disease due to G6P deficiency type Ia glycogen storage disease type 1a glycogen storage disease type Ia glycogenosis due to glucose-6-phosphatase deficiency type 1a glycogenosis due to glucose-6-phosphatase deficiency type Ia glycogenosis type Ia GSD Ia GSD1 GSD1A Von Gierke disease glucose-6-phosphatase deficiency glucose-6-phosphatase deficiency glycogen storage disease glycogen storage disease 1 glycogen storage disease 1A glycogen storage disease Ia hepatorenal form of glycogen storage disease hepatorenal glycogenosis MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency. GARD:0002515 ICD10:E74.0 MESH:C562594 NCIT:C122661 OMIM:232220 OMIM:232240 Orphanet:79259 SCTID:237965005 SCTID:30102006 UMLS:C0342749 G6P deficiency type IB G6P translocase deficiency G6PT deficiency GSD due to G6P deficiency type IB GSD due to G6PT deficiency GSD type 1 non a GSD type 1b GSD type IB GSDIb glycogen storage disease Ic glycogen storage disease due to G6P deficiency type IB glycogen storage disease type 1b glycogen storage disease type I non-a glycogen storage disease type IB glycogen storage disease type Ic glycogenosis due to glucose-6-phosphatase deficiency type 1b glycogenosis due to glucose-6-phosphatase transport defect type IB glycogenosis type 1b glycogenosis type IB GSD Ib GSD Ic GSD1B GSD1C Gsd1C glucose-6-phosphate Transport defect glycogen storage disease Ib glycogen storage disease Id MONDO:0009288 Editor note: TODO decide whether to merge Ic glycogen storage disease due to glucose-6-phosphatase deficiency type IB Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2). COHD:193170 DOID:9432 EFO:1001151 GARD:0007548 ICD10:E74.8 ICD9:271.4 MESH:D006030 MedDRA:10038457 OMIM:233100 Orphanet:69076 SCTID:267430007 UMLS:C0017980 UMLS:C3245525 SGLT2 deficiency familial renal glucosuria renal diabetes GLYS Glys1 glycosuria, renal renal glucosuria renal glycosuria MONDO:0009297 familial renal glucosuria https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria Goodpasture syndrome is an autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. DOID:9808 EFO:0007290 GARD:0002551 ICD10:M31.0 ICD10:M31.0+ ICD10:N08.5* ICD9:446.21 MESH:D019867 MedDRA:10018620 NCIT:C84566 OMIM:233450 Orphanet:375 SCTID:236432001 UMLS:C0403529 Goodpasture syndrome anti-GBM syndrome anti-glomerular basement membrane disease anti-glomerular basement membrane antibody disease glomerulonephritis - pulmonary hemorrhage pulmonary renal syndrome rapidly progressive glomerulonephritis with pulmonary hemorrhage MONDO:0009303 anti-glomerular basement membrane disease https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). DOID:1060 GARD:0006569 ICD10:E72.0 ICD10:E72.02 MESH:D006250 MedDRA:10019165 NCIT:C84748 OMIM:234500 Orphanet:2116 SCTID:80902009 UMLS:C0018609 Hartnup disease Hartnup disorder aminoaciduria, Hartnup type deficiency of tryptophan oxygenase neutral 1 amino acid transport defect neutral amino acid transport defect HND MONDO:0009324 Hartnup disease https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal. pulmonary capillary hemangiomatosis GARD:0008527 ICD10:D18.0 ICD9:416.8 MESH:C535861 OMIM:234810 Orphanet:199241 SCTID:233949008 UMLS:C0340548 PVOD2 familial pulmonary capillary hemangiomatosis hemangiomatosis, familial pulmonary capillary pulmonary venoocclusive disease 2, autosomal recessive MONDO:0009329 Editor note: check ORDO class - not clear if it intends to be the same as PVOD2 pulmonary venoocclusive disease 2 A disorder of the blood that is present at birth. NCIT:C104003 congenital hematological disorder congenital hematological system disease MONDO:0009332 congenital hematological disorder OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 hemolytic uremic syndrome, atypical, susceptibility to, type 1 AHUS1 Ahus, susceptibility to, 1 hemolytic uremic syndrome, typical susceptibility to atypical hemolytic uremic syndrome 1 MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 DOID:0080327 MESH:C565507 OMIM:236500 Orphanet:500135 UMLS:C1856053 MARCH syndrome hydranencephaly with renal aplasia-dysplasia MARCH multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome OMIM:236730 urofacial syndrome type 1 Ochoa syndrome UFS1 facial palsy, partial, with urinary abnormalities hydronephrosis with peculiar Facial expression inverted smile and occult neuropathic bladder urofacial syndrome urofacial syndrome 1 MONDO:0009368 urofacial syndrome type 1 Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. EFO:0009051 ICD10:P56.9 ICD10:P83.2 ICD9:778.0 NCIT:C111905 OMIM:236750 Orphanet:363999 SCTID:276509008 UMLS:C0455988 non-immune HF non-immune fetal edema non-immune fetal hydrops Hemoglobin H hydrops fetalis syndrome NIHF hydrops fetalis, Alpha-thalassemia-related hydrops fetalis, nonimmune MONDO:0009369 non-immune hydrops fetalis Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene. DOID:0110143 GARD:0009658 ICD10:E26.8 MESH:C537651 OMIM:241200 SCTID:700109009 BARTS2 Bartter syndrome caused by mutation in KCNJ1 Bartter syndrome type 2 Bartter syndrome type 2 antenatal KCNJ1 Bartter syndrome hyperprostaglandin E syndrome 2 hypokalemic alkalosis with hypercalciuria 2 antenatal Bartter syndrome antenatal type 2 Bartter syndrome, antenatal, type 2 Bartter syndrome, type 2, antenatal hypokalemic alkalosis with hypercalciuria 2, antenatal hypokalemic alkalosis with hypercalciuria antenatal 2 hypokalemic alkalosis with hypercalciuria, antenatal, 2 MONDO:0009424 Bartter disease type 2 Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. GARD:0002934 ICD9:759.6 MESH:C537158 NCIT:C4385 OMIM:241800 Orphanet:2113 SCTID:237714006 hamartoma of hypothalamus hypothalamic hamartoma hypothalamic hamartomas congenital hypothalamic hamartoma syndrome hamartoma of the hypothalamus MONDO:0009436 Editor note: obsoleted in ORDO congenital hypothalamic hamartoma syndrome https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas MESH:C565475 OMIM:242050 UMLS:C1855793 hypouricemia, hypercalcinuria, and decreased bone density MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. GARD:0004641 MESH:C536274 OMIM:242530 Orphanet:2278 UMLS:C1855787 Passwell-Goodman-Siprkowski syndrome ichthyosis intellectual deficit dwarfism renal impairment ichthyosis, intellectual disability, dwarfism and renal impairment ichthyosis, intellectual disability, dwarfism, and renal impairment ichthyosis, mental retardation, dwarfism and renal impairment ichthyosis, mental retardation, dwarfism, and renal impairment MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome MESH:C565469 OMIM:242850 UMLS:C1855771 immune deficiency disease MONDO:0009453 immune deficiency disease Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. DOID:0060490 GARD:0004984 ICD10:Q77.7 MESH:C536629 MedDRA:10048699 NCIT:C135087 OMIM:242900 Orphanet:1830 SCTID:723995003 UMLS:C0877024 Schimke immunoosseous dysplasia Schimke syndrome immunoosseous dysplasia Schimke type spondyloepiphyseal dysplasia - nephrotic syndrome spondyloepiphyseal dysplasia-nephrotic syndrome IMMUNOOSSEOUS dysplasia, Schimke type SIOD Schimke IMMUNOOSSEOUS dysplasia Schimke Immunoosseous dysplasia spondyloepiphyseal dysplasia nephrotic syndrome MONDO:0009458 Schimke immuno-osseous dysplasia Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). DOID:0110595 EFO:0009160 ICD10:Q87.8 MESH:C565460 OMIM:243605 OMIM:616369 Orphanet:444069 Orphanet:506307 UMLS:CN237682 CILD31 Stromme syndrome apple peel syndrome with microcephaly and ocular anomalies apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome ciliary dyskinesia, primary, type 31 jejunal atresia with microcephaly and ocular anomalies jejunal atresia-microcephaly-ocular anomalies syndrome lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome primary ciliary dyskinesia 31 STROMS ciliary dyskinesia, primary, 31 ciliary dyskinesia, primary, 31, formerly MONDO:0009477 Stromme syndrome Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. DOID:1391 GARD:0004011 ICD10:E78.6 NCIT:C84813 OMIM:245900 Orphanet:79293 SCTID:238091006 UMLS:CN205883 FLD Norum disease complete LCAT deficiency lecithin acyltransferase deficiency lecithin:cholesterol acyltransferase deficiency LCAT deficiency familial LCAT deficiency MONDO:0009515 Norum disease Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities. DOID:0060881 GARD:0003451 ICD10:E83.4 MESH:C536148 OMIM:248190 Orphanet:2196 FHHNC with severe ocular involvement FHHNCOI Meier-Blumberg-Imahorn syndrome bilateral macular coloboInOwlma with hypercalciuria familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement hypercalciuria-bilateral macular coloboInOwlma syndrome HOMG5 Meier Blumberg Imahorn syndrome familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement hypomagnesemia 5, renal, with ocular involvement hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement hypomagnesemia, renal, with ocular involvement idiopathic hypercalciuria with bilateral macular coloboInOwlmata macular coloboInOwlma, bilateral, with hypercalciuria MONDO:0009548 renal hypomagnesemia 5 with ocular involvement https://rarediseases.info.nih.gov/diseases/3451/meier-blumberg-imahorn-syndrome Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. DOID:0060880 ICD10:E83.4 MESH:C537153 OMIM:248250 Orphanet:31043 SCTID:725033008 CLDN16 familial primary hypomagnesemia CLDN16 primary hypomagnesemia FHHNC without severe ocular involvement HOMG3 familial primary hypomagnesemia caused by mutation in CLDN16 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement isolated renal hypomagnesemia primary hypomagnesemia caused by mutation in CLDN16 primary hypomagnesemia due to defect in renal tubular transport of magnesium renal hypomagnesemia type 3 hypercalciuria, childhood, self-limiting hypomagnesemia 3, renal hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included hypomagnesemia, isolated renal hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium magnesium, defect in renal tubular transport of MONDO:0009550 renal hypomagnesemia 3 Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene. DOID:0070115 ICD10:Q61.9 MESH:C536133 OMIM:249000 UMLS:C3714506 MKS1 MKS1 Meckel syndrome Meckel syndrome caused by mutation in MKS1 Meckel syndrome, type 1 Meckel-Gruber syndrome, type 1 Dysencephalia Splanchnocystica Dysencephalia splachnocystica Gruber syndrome MKS Meckel Gruber syndrome Meckel syndrome Meckel syndrome 1 Meckel syndrome type1 Meckel-Gruber syndrome Mes MONDO:0009571 Meckel syndrome, type 1 Autosomal recessive form of familial Mediterranean fever. OMIM:249100 familial Mediterranean fever, autosomal recessive FMF familial MEDITERRANEAN FEVER familial Mediterranean fever polyserositis, familial paroxysmal polyserositis, recurrent MONDO:0009572 autosomal recessive familial Mediterranean fever Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. DOID:0050733 EFO:0005597 GARD:0002733 GARD:0003577 ICD10:E72.1 OMIM:250940 Orphanet:2170 SCTID:721187005 functional methionine synthase deficiency type cblG HMAG cblG homocystinuria due to defect in methylation Cbl g homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type homocystinuria-megaloblastic anemia, cblG complementation type methionine synthase deficiency methylcobalamin deficiency Cbl G type methylcobalamin deficiency, cblG type methylmalonic aciduria and homocystinuria type cblG MONDO:0009609 methylcobalamin deficiency type cblG https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-. DOID:0060740 GARD:0003586 ICD10:E71.1 NCIT:C148366 OMIM:251000 Orphanet:27 UMLS:C1855114 methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type methylmalonyl-CoA mutase deficiency methylmalonyl-Coenzyme A mutase deficiency vitamin B12-unresponsive methylmalonic aciduria MCM deficiency methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency methylmalonic aciduria, mut type methylmalonic aciduria, mut(-) type methylmalonic aciduria, mut(0) type vitamin B12-unresponsive methylmalonic acidemia MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein. DOID:0060742 GARD:0005500 ICD10:E71.1 NCIT:C142171 OMIM:251100 Orphanet:79310 SCTID:73843004 SCTID:82245003 UMLS:C0342721 UMLS:C0342722 UMLS:C1855109 cobalamin a disease cobalamin b disease methylmalonic aciduria cblA type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type vitamin B12-responsive methylmalonic acidemia type cblA vitamin B12-responsive methylmalonic aciduria type cblA MMA Cbl A type cblA - cobalamin locus a cblA methylmalonic acidemia cblB - cobalamin locus b cblB methylmalonic acidemia cobalamin locus a variant cobalamin locus b variant methylmalonic acidemia cblA type methylmalonic acidemia, cblA type methylmalonic aciduria, cblA type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type MONDO:0009613 vitamin B12-responsive methylmalonic acidemia type cblA An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial. DOID:0060743 GARD:0009479 ICD10:E71.1 NCIT:C142172 OMIM:251110 Orphanet:79311 UMLS:C1855102 methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type vitamin B12-responsive methylmalonic acidemia type cblB vitamin B12-responsive methylmalonic aciduria, type cblB methylmalonic acidemia cblB type methylmalonic acidemia, cblB type methylmalonic aciduria, cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type MONDO:0009614 vitamin B12-responsive methylmalonic acidemia type cblB Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies. DOID:0080694 GARD:0000065 GARD:65 ICD10:Q04.3 MESH:C537548 NCIT:C132195 OMIMPS:251300 Orphanet:2065 SCTID:721297008 UMLS:C0795949 Galloway syndrome Galloway-Mowat syndrome microcephaly, hiatal hernia and nephrotic syndrome microcephaly-hiatus hernia-nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome spinocerebellar ataxia, autosomal recessive 5 GAMOS Galloway Mowat syndrome cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities hiatal hernia-microcephaly-nephrosis, Galloway type microcephaly nephrosis syndrome microcephaly, hiatal hernia, and nephrotic syndrome nephrosis neuronal dysmigration syndrome spinocerebellar ataxia, autosomal recessive 5, formerly MONDO:0009627 Galloway-Mowat syndrome Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. OMIM:254900 Orphanet:163696 SCTID:764453009 AMRF EPM4 action myoclonus-renal failure syndrome myoclonus-nephropathy syndrome progressive myoclonic epilepsy type 4 epilepsy, progressive myoclonic, 4, with or without renal failure MONDO:0009699 action myoclonus-renal failure syndrome Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency. GARD:0000321 ICD9:756.89 MESH:C537228 OMIM:256020 Orphanet:2613 SCTID:236527004 UMLS:C0403548 Salcedo syndrome nail-patella-like renal disease glomerular basement Membrane disease, nail-patella syndrome type nail patella like renal disease MONDO:0009724 nail-patella-like renal disease Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. DOID:0111112 ICD10:Q61.5 MESH:C537699 NCIT:C74998 OMIM:256100 Orphanet:93592 SCTID:444830001 UMLS:C1855681 UMLS:CN205459 NPH1 NPHP1 NPHP1 nephronophthisis (disease) familial juvenile nephronophthisis juvenile nephronophthisis juvenile nephronophthisis 1 nephronophthisis (disease) caused by mutation in NPHP1 nephronophthisis 1 nephronophthisis type 1 Nph1 nephronophthisis, familial juvenile MONDO:0009728 nephronophthisis 1 Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant. GARD:0003943 ICD10:Q87.8 MESH:C536402 OMIM:256200 Orphanet:2669 UMLS:C1850552 Braun-Bayer syndrome nephrosis deafness urinary tract digital malformation nephrosis with deafness and urinary tract and digital malformations MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life. GARD:0001500 ICD10:N04.8 MedDRA:10060740 NCIT:C122795 OMIM:256300 Orphanet:839 SCTID:197601003 UMLS:C0403399 Finnish congenital nephrosis congenital nephrotic syndrome - Finnish type nephrotic syndrome - NPHS1 associated CnF NPHS1 congenital nephrotic syndrome 1 congenital nephrotic syndrome Finnish type nephrosis 1, congenital, Finnish type nephrosis, congenital nephrotic syndrome, congenital nephrotic syndrome, type 1 MONDO:0009732 congenital nephrotic syndrome, Finnish type https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. DOID:0080383 GARD:0003547 NCIT:C121198 OMIM:256370 WT1 nephrotic syndrome congenital nephrotic syndrome - diffuse mesangial sclerosis nephrotic syndrome caused by mutation in WT1 nephrotic syndrome, type 4 DMS NPHS4 diffuse isolated mesangial sclerosis diffuse mesangial sclerosis familial mesangial sclerosis isolated diffuse mesangial sclerosis mesangial sclerosis, diffuse nephrotic syndrome, early onset with diffuse mesangial sclerosis MONDO:0009733 nephrotic syndrome, type 4 Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. sialidosis DOID:3343 GARD:0007183 ICD10:E77.1 MESH:C562606 NCIT:C125596 OMIM:256150 OMIM:256550 Orphanet:87876 SCTID:52186006 SCTID:81896006 UMLS:C0268232 UMLS:C3888317 UMLS:CN206285 NEU1 sialidosis dysmorphic sialidosis dysmorphic sialidosis with renal involvement infantile dysmorphic sialidosis mucolipidosis I mucolipidosis type I nephrosialidosis sialidosis caused by mutation in NEU1 sialidosis type II sialidosis, type 2 ML 1 ML1 NEU 1 deficiency Neu deficiency Neu1 deficiency Neug deficiency cherry Red spot--myoclonus syndrome glycoprotein neuraminidase deficiency glycoproteinosis lipomucopolysaccharidosis mucolipidosis 1 mucolipidosis type 1 myoclonus--cherry Red spot syndrome neuraminidase 1 deficiency neuraminidase deficiency sialidase deficiency sialidosis, type 1 sialidosis, type II MONDO:0009738 See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 sialidosis type 2 Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. GARD:0003964 ICD10:Q87.8 MESH:C537388 OMIM:256690 Orphanet:2673 SCTID:725908007 UMLS:C0796088 Freire Maia-Pinheiro-Opitz syndrome neurofaciodigitorenal syndrome Freire-Maia Pinheiro Opitz syndrome Nfdr syndrome MONDO:0009740 neurofaciodigitorenal syndrome https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome GARD:0004050 MESH:C537739 OMIM:257970 Orphanet:2715 UMLS:C1850331 oculorenocerebellar syndrome ORC syndrome absence of the cerebellar granular layer, intellectual disability, tapetoretinal degeneration and progressive glomerulopathy absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy MONDO:0009772 oculorenocerebellar syndrome https://rarediseases.info.nih.gov/diseases/4050/oculorenocerebellar-syndrome Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. DOID:0080175 GARD:0004080 HP:0010475 ICD10:Q64.1 ICD9:759.89 MESH:C537748 MedDRA:10067424 NCIT:C99142 OMIM:258040 Orphanet:93929 SCTID:20815007 UMLS:C1850321 OEIS complex OEIS syndrome cloacal exstrophy omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome cloacal exstrophy sequence omphalocele - cloacal exstrophy - imperforate anus - spinal defect omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex omphalocele-exstrophy-imperforate anus-spinal defects MONDO:0009774 cloacal exstrophy (disease) A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. bone tissue neoplasm DOID:3347 EFO:0000637 HP:0002669 ICDO:9180/3 NCIT:C9145 ONCOTREE:OS osteogenic sarcoma osteoid sarcoma osteosarcoma osteosarcoma, malignant sarcoma of osteoid skeletal sarcoma MONDO:0009807 osteosarcoma (disease) Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. DOID:0110941 GARD:0004154 ICD10:Q78.2 ICD9:588.89 MESH:C536058 NCIT:C118438 OMIM:259730 Orphanet:2785 SCTID:254122007 Autosomal Recessive osteopetrosis, type 3 CA2 osteopetrosis (disease) Guibaud-Vainsel syndrome OPTB3 autosomal recessive osteopetrosis 3 with renal tubular acidosis autosomal recessive osteopetrosis type 3 carbonic anhydrase 2 deficiency carbonic anhydrase II deficiency marble brain disease mixed RTA mixed renal tubular acidosis osteopetrosis (disease) caused by mutation in CA2 osteopetrosis with renal tubular acidosis osteopetrosis, autosomal recessive type 3 renal tubular acidosis type 3 Guibaud Vainsel syndrome osteopetrosis autosomal recessive 3 osteopetrosis, autosomal recessive 3 MONDO:0009818 autosomal recessive osteopetrosis 3 https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3 Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement. DOID:0111670 GARD:0002835 ICD10:E74.8 ICD9:271.8 MESH:C536414 NCIT:C123212 OMIM:259900 Orphanet:93598 SCTID:65520001 UMLS:C0268164 AGXT primary hyperoxaluria glycolic aciduria peroxisomal alanine-glyoxylate aminotransferase deficiency primary hyperoxaluria caused by mutation in AGXT primary hyperoxaluria type I HP1 Oxalosis 1 alanine-glyoxylate aminotransferase deficiency hepatic AGT deficiency hyperoxaluria, primary, type 1 hyperoxaluria, primary, type I peroxisomal alanine glyoxylate aminotransferase deficiency peroxisomal alanine:glyoxylate aminotransferase deficiency serine pyruvate aminotransferase deficiency serine:pyruvate aminotransferase deficiency MONDO:0009823 primary hyperoxaluria type 1 https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1 Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. DOID:0111671 GARD:0002836 ICD10:E74.8 ICD9:271.8 MESH:C536415 NCIT:C123213 OMIM:260000 Orphanet:93599 SCTID:40951006 UMLS:C0268165 D-glycerate dehydrogenase deficiency GRHPR primary hyperoxaluria L-glyceric aciduria primary hyperoxaluria caused by mutation in GRHPR primary hyperoxaluria type II HP2 Oxalosis 2 glyceric aciduria glyoxylate reductase/hydroxypyruvate reductase deficiency hyperoxaluria, primary, type 2 hyperoxaluria, primary, type II MONDO:0009824 primary hyperoxaluria type 2 https://rarediseases.info.nih.gov/diseases/2836/primary-hyperoxaluria-type-2 Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. GARD:0007006 ICD10:D51.1 ICD9:281.3 OMIMPS:261100 Orphanet:35858 SCTID:360495000 Imerslund-Grasbeck syndrome Imerslund-Gräsbeck syndrome familial megaloblastic anemia juvenile megaloblastic Anemia selective cobalamin malabsorption with proteinuria Gräsbeck-Imerslund disease defect of enterocyte intrinsic factor receptor enterocyte cobalamin malabsorption MONDO:0009853 Imerslund-Grasbeck syndrome Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. DOID:0110861 GARD:0008378 ICD10:Q61.1 ICD9:753.14 MedDRA:10036047 NCIT:C84579 Orphanet:731 SCTID:28770003 UMLS:C0085548 AR-PKD ARPKD autosomal recessive polycystic kidney polycystic kidney disease, autosomal recessive polycystic kidney disease, infantile type polycystic kidney and hepatic disease 1 polycystic kidney disease, infantile, type I PKHD1 MONDO:0009889 autosomal recessive polycystic kidney disease A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. DOID:0110092 ICD10:Q77.2 NCIT:C122654 OMIM:263520 Majewski syndrome SRPS2A SRTD6 polydactyly with neonatal chondrodystrophy type II polydactyly with neonatal chondrodystrophy, type II short rib-polydactyly syndrome type II short rib-polydactyly syndrome type IIA short-rib thoracic dysplasia 6 with or without polydactyly Srps, type 2 polydactyly with neonatal chondrodystrophy, type 2 short rib-polydactyly syndrome, type 2 short rib-polydactyly syndrome, type 2A MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. DOID:0050450 GARD:0008547 ICD10:N15.8 ICD9:275.49 MESH:D053579 MedDRA:10062906 NCIT:C84730 OMIM:263800 Orphanet:358 SCTID:707756004 UMLS:C0268450 Gitelman syndrome hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria primary renal tubular hypokalemic hypomagnesemia with hypocalciuria GTLMNS Gitelman's syndrome Potassium and magnesium depletion familial hypokalemia-hypomagnesemia MONDO:0009904 Gitelman syndrome https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs. DOID:0060854 GARD:0004552 ICD10:N25.8 OMIM:264350 Orphanet:171876 PHA1B autosomal recessive PHA 1 autosomal recessive pseudohypoaldosteronism type 1 PHA I, autosomal recessive generalized PHA1 generalized pseudohypoaldosteronism type 1 pseudohypoaldosteronism type 1 autosomal recessive pseudohypoaldosteronism type 1, recessive pseudohypoaldosteronism, type I, autosomal recessive MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 https://rarediseases.info.nih.gov/diseases/4552/autosomal-recessive-pseudohypoaldosteronism-type-1 An autosomal recessive form of PXE. DOID:2738 ICD10:Q82.8 ICD9:757.39 MESH:D011561 MedDRA:10037150 NCIT:C85036 OMIM:264800 Orphanet:758 SCTID:402782006 SCTID:72744008 UMLS:C0033847 AR inherited pseudoxanthoma elasticum Gronblad-Strandberg syndrome Gronblad-Strandberg-Touraine syndrome PXE Gronblad Strandberg syndrome PXE, modifier of severity of pseudoxanthoma elasticum pseudoxanthoma elasticum, modifier of severity of MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. DOID:5453 GARD:0010153 ICD9:416.8 MESH:D011668 MedDRA:10037458 NCIT:C85039 OMIMPS:265450 Orphanet:31837 SCTID:89420002 UMLS:C0034091 PVOD pulmonary veno-occlusive disease obstructive disease of the pulmonary veins MONDO:0009937 pulmonary venoocclusive disease https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. COHD:4101333 DOID:10582 GARD:0004371 GARD:0005691 ICD10:G60.1 ICD9:272.8 ICD9:356.3 MESH:C535517 MESH:D012035 MedDRA:10038275 OMIM:266500 OMIM:600964 Orphanet:773 SCTID:25362006 UMLS:C1833022 HMSN 4 HMSN type IV HSMN IV Refsum disease Refsum disease with increased pipecolic acidemia Refsum's disease classic Refsum disease hereditary motor and sensory neuropathy type 4 heredopathia atactica polyneuritiformis phytanic-CoA hydroxylase deficiency RDPA Refsum disease, adult, 1 Refsum disease, classic disorder of cornification 11 (phytanic acid type) doc 11 (phytanic acid type) hereditary motor and sensory neuropathy 4 hereditary sensory and motor neuropathy type 4 hypertrophic neuropathy of Refsum phytanic acid oxidase deficiency MONDO:0009958 Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500 adult Refsum disease https://rarediseases.info.nih.gov/diseases/5691/refsum-disease Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. ICD9:759.89 OMIM:266900 SCTID:236531005 NPHP1 Senior-Loken syndrome Senior-Loken syndrome 1 Senior-Loken syndrome caused by mutation in NPHP1 Senior-Loken syndrome type 1 Loken-Senior syndrome SENIOR-Loken syndrome 1 SLSN1 Senior-Loken syndrome juvenile nephronophthisis with Leber amaurosis renal dysplasia and retinal aplasia renal-retinal syndrome MONDO:0009962 Senior-Loken syndrome 1 Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. GARD:0005394 ICD10:Q87.8 MESH:C537754 OMIM:266910 Orphanet:3404 SCTID:719840003 UMLS:C1849438 renal dysplasia-limb defects syndrome renal dysplasia-mesomelia-radiohumeral fusion syndrome RL syndrome Ulbright Hodes syndrome renal dysplasia limb defects syndrome renal dysplasia, mesomelia, and radiohumeral fusion MONDO:0009963 Ulbright-Hodes syndrome An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. DOID:0110097 GARD:0008600 ICD10:Q87.5 ICD9:759.89 OMIM:266920 Orphanet:140969 SCTID:254092004 Conorenal syndrome Mainzer Saldino syndrome Mainzer-Saldino syndrome SRTD9 Saldino-Mainzer syndrome renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome short-rib thoracic dysplasia 9 with or without polydactyly renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. DOID:0060476 GARD:0003936 ICD10:Q87.3 MESH:C536399 NCIT:C103144 OMIM:267000 Orphanet:2849 SCTID:722231005 UMLS:C0796113 Perlman syndrome nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome renal hamartomas, nephroblastomatosis and fetal gigantism PRLMNS nephroblastomatosis fetal ascites macrosomia and Wilms tumor nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor renal hamartomas, nephroblastomatosis, and fetal gigantism MONDO:0009965 Perlman syndrome https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome DOID:0070121 GARD:0004665 ICD10:Q61.9 MESH:C537756 OMIM:267010 Orphanet:3032 PMID:18371931 UMLS:C2673885 Goldston syndrome MKS7 Meckel syndrome type 7 Meckel-Gruber syndrome, type 7 Meckel-like syndrome type 1 NPHP3-related Meckel-like syndrome renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia Meckel syndrome 7 Meckel syndrome, type 7 renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst MONDO:0009966 NPHP3-related Meckel-like syndrome https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia GARD:0004670 MESH:C537759 OMIM:267200 renal tubular acidosis type 3 RTA, bicarbonate-wasting type RTA, dislocation type bicarbonate-wasting RTA renal tubular acidosis III renal tubular acidosis, distal, type 3 MONDO:0009967 renal tubular acidosis 3 GARD:0004666 ICD9:389.8 ICD9:588.89 MESH:C562897 OMIM:267300 Orphanet:93611 SCTID:236532003 SCTID:722468005 UMLS:C0403554 UMLS:C4302514 distal renal tubular acidosis co-occurrent with sensorineural deafness renal tubular acidosis, distal, with progressive nerve deafness AR dRTA with hearing loss AR dRTA wth deafness RTA with progressive nerve deafness autosomal recessive distal renal tubular acidosis with deafness autosomal recessive distal renal tubular acidosis with hearing loss renal tubular acidosis progressive nerve deafness renal tubular acidosis type 1b renal tubular acidosis with deafness renal tubular acidosis with progressive nerve deafness renal tubular acidosis, autosomal recessive, with progressive nerve deafness MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss GARD:0004664 ICD10:Q87.8 MESH:C564849 OMIM:267400 Orphanet:1092 UMLS:C1849432 renal genital middle ear anomalies renal, genital, and middle EAR anomalies MONDO:0009969 renal-genital-middle ear anomalies https://rarediseases.info.nih.gov/diseases/4664/renal-genital-middle-ear-anomalies An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome. ICD10:Q63.8 OMIM:267430 Orphanet:97369 genetic renal tubular dysgenesis RTD primitive renal tubule syndrome renal tubular dysgenesis renal tubular dysgenesis with choanal atresia and athelia MONDO:0009970 renal tubular dysgenesis of genetic origin EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). DC:0000689 DOID:0060782 GARD:0002076 ICD10:Q82.4 MESH:C536189 NCIT:C148261 OMIM:268650 Orphanet:1896 SCTID:39788007 UMLS:C0406704 UMLS:CN776907 Rudiger syndrome 1 Walker-Clodius syndrome ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome ectrodactyly-ectodermal dysplasia-cleft syndrome ectrodactyly-ectodermal dysplasia-clefting syndrome RUDIGER syndrome ectrodactyly-cleft lip/palate syndrome ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome MONDO:0010004 EEC syndrome https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. GARD:0000117 ICD10:Q87.0 ICD9:759.89 MESH:C536632 MedDRA:10063540 NCIT:C129308 OMIM:269150 Orphanet:798 SCTID:18899000 UMLS:C0265227 SGS Schinzel-Giedion midface-retraction syndrome Schinzel-Giedion syndrome Schinzel Giedion midface-retraction syndrome Schinzel Giedion syndrome Schinzel-Giedion midface retraction syndrome Sgs MONDO:0010010 Schinzel-Giedion syndrome Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal. DOID:9249 GARD:0004832 ICD10:Q77.2 ICD9:756.9 MESH:C537599 OMIM:269860 Orphanet:93268 SCTID:254052001 UMLS:C0432198 Beemer-Langer syndrome short rib-polydactyly syndrome type 4 type IV short rib polydactyly syndrome Beemer Langer syndrome SRPS type 4 SRTD12 Srps 4 short rib polydactyly syndrome Beemer-Langer type short rib syndrome, Beemer type short rib-polydactyly syndrome Beemer type short rib-polydactyly syndrome type IV short rib-polydactyly syndrome, Beemer-Langer type short rib-polydactyly syndrome, type 4 short-rib thoracic dysplasia 12 MONDO:0010024 Beemer-Langer syndrome A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). COHD:193306 DOID:758 GARD:0004883 HP:0001696 ICD10:Q89.3 ICD9:759.3 ICD9:759.89 MESH:D012857 NCIT:C87121 OMIM:270100 Orphanet:101063 SCTID:24614000 complete situs inversus complete situs inversus viscerum complete transposition complete transposition (morphologic abnormality) laterality sequence situs ambiguus situs inversus situs inversus totalis situs inversus totalis (disease) HTX5 SIV heterotaxy, visceral, 5, autosomal situs inversus viscerum MONDO:0010029 situs inversus Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. DOID:14692 GARD:0005683 ICD10:E78.72 ICD10:Q87.1 ICD9:759.89 MESH:D019082 NCIT:C85071 OMIM:270400 Orphanet:818 SCTID:43929004 UMLS:C0175694 7-dehydrocholesterol reductase deficiency RSH syndrome Rutledge lethal multiple congenital anomaly syndrome SLO syndrome SLOS Smith-Lemli-Opitz syndrome Smith-Opitz-inborn syndrome Smith Lemli Opitz syndrome lethal acrodysgenital syndrome polydactyly, sex reversal, renal hypoplasia, and unilobar lung polydactyly, sex reversal, renal hypoplasia, and unilobular lung MONDO:0010035 Smith-Lemli-Opitz syndrome https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. GARD:0009430 ICD10:M31.3 ICD9:287.33 NCIT:C131657 OMIM:274150 Orphanet:93583 SCTID:373420004 Upshaw-Schulman syndrome congenital ADAMTS-13 deficiency congenital ADAMTS13 deficiency congenital TTP familial TTP hereditary thrombotic thrombocytopenic purpura Microangiopathic hemolytic Anemia Microangiopathic hemolytic Anemia, congenital Schulman-Upshaw syndrome TTP TTP, congenital USS Upshaw Factor, deficiency of thrombotic microangiopathy, familial thrombotic thrombocytopenic purpura, congenital thrombotic thrombocytopenic purpura, familial MONDO:0010122 congenital thrombotic thrombocytopenic purpura Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait. GARD:0005203 MESH:C536908 OMIM:274240 Orphanet:3327 SCTID:733096007 UMLS:C1848813 UMLS:C4518579 cutler-Bass-Romshe syndrome THYROCEREBRORETINAL syndrome Thyrocerebral-retinal syndrome MONDO:0010128 thyrocerebrorenal syndrome This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. GARD:0005202 ICD10:Q87.8 MESH:C536907 OMIM:274265 Orphanet:3326 SCTID:723555007 UMLS:C1848812 thymic-renal-anal-lung dysplasia syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR) MONDO:0010129 thymic-renal-anal-lung dysplasia https://rarediseases.info.nih.gov/diseases/5202/thymic-renal-anal-lung-dysplasia Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. DOID:0050726 GARD:0002658 ICD10:E70.2 MedDRA:10069462 NCIT:C98641 OMIM:276700 Orphanet:882 SCTID:410056006 UMLS:C0268490 FAH deficiency fumarylacetoacetase deficiency fumarylacetoacetate hydrolase deficiency hepatorenal tyrosinemia type I tyrosinemia tyrosinemia type I Fah deficiency TYRSN1 tyrosinemia type 1 tyrosinemia, type 1 tyrosinemia, type I MONDO:0010161 tyrosinemia type I https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1 VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. GARD:0000272 ICD10:Q87.8 OMIM:276950 Orphanet:3412 UMLS:C1848599 Sujansky-Leonard syndrome VACTERL association with hydrocephalus VACTERL association with hydrocephaly VACTERL hydrocephaly VACTERL-H Vater association with hydrocephalus Vater association with macrocephaly and ventriculomegaly vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly MONDO:0010172 VACTERL with hydrocephalus Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females. GARD:0007100 ICD10:Q51.8 ICD9:752.49 OMIM:277000 Orphanet:247775 SCTID:8793008 MRKH syndrome type 1 Rokitansky sequence congenital absence of uterus and vagina MRKH anomaly MRKH syndrome Mayer-Rokitansky-KUSTER-Hauser syndrome Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) Mayer-Rokitansky-Küster-Hauser syndrome type 1 Mrk anomaly Mullerian aplasia/dysgenesis Mullerian dysgenesis Müllerian agenesis Rokitansky syndrome Von Mayer-Rokitansky-Kuster anomaly congenital absence of the uterus and vagina (CAUV) genital renal ear syndrome urogenital adysplasia uterus Bipartitus solidus Rudimentarius cum vagina Solida MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 https://rarediseases.info.nih.gov/diseases/7100/mullerian-aplasia Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. DOID:893 GARD:0007893 ICD10:E83.0 ICD10:E83.01 MESH:D006527 MedDRA:10019819 NCIT:C84756 OMIM:277900 Orphanet:905 SCTID:88518009 UMLS:C0019202 Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson disease Wilson's disease cerebral pseudosclerosis hepatolenticular degeneration WD Wnd hepatolenticular Degeneration MONDO:0010200 Wilson disease https://rarediseases.info.nih.gov/diseases/7893/wilson-disease Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. GARD:0005621 ICD10:E79.8 MESH:C562584 OMIM:278300 Orphanet:93601 SCTID:72682008 XAN1 XDH deficiency isolated xanthine oxidase deficiency xanthine dehydrogenase deficiency xanthine oxidase deficiency XO deficiency XOR deficiency hereditary xanthinuria, type I type 1 xanthinuria xanthine oxidoreductase deficiency xanthinuria type 1 xanthinuria, type 1 xanthinuria, type I MONDO:0010209 xanthinuria type I Dent disease type 1 is a type of Dent disease with predominantly renal manifestations. ICD10:N25.8 OMIM:300009 Orphanet:93622 SCTID:717789008 UMLS:C4305530 UMLS:CN206679 CLCN5 Dent disease Dent disease caused by mutation in CLCN5 Dent disease type 1 nephrolithiasis type 1 DENT disease 1 nephrolithiasis 2 nephrolithiasis, hypercalciuric, X-linked urolithiasis, hypercalciuric, X-linked MONDO:0010225 Dent disease type 1 Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. DOID:0080342 ICD10:Q87.3 MESH:C564567 OMIM:300209 Orphanet:79022 UMLS:C1846175 OFD1 Simpson-Golabi-Behmel syndrome SGBS2 Simpson-Golabi-Behmel syndrome caused by mutation in OFD1 lethal variant of Simpson-Golabi-Behmel syndrome Sgbs2 Simpson-Golabi-Behmel syndrome, type 2 MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. hypoxanthine guanine phosphoribosyltransferase deficiency hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [ambiguous] DOID:1919 GARD:0007226 ICD10:E79.1 ICD9:277.2 MESH:D007926 MedDRA:10057589 NCIT:C61255 OMIM:300322 Orphanet:510 SCTID:10406007 UMLS:C0023374 UMLS:CN205196 HG-PRT deficiency HPRT complete deficiency HPRT deficiency grade IV Lesch - Nyhan syndrome Lesch-Nyhan syndrome X-linked hyperuricemia X-linked hyperuricemia (disorder) [ambiguous] complete hypoxanthine-guanine phosphoribosyltransferase deficiency deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase complete deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV hypoxanthine-guanine phosphoribosyltransferase deficiency hypoxanthine-guanine-phosphoribosyltransferase deficiency HPRT deficiency HPRT deficiency, complete HPRT deficiency, neurologic variant Hprt1 deficiency LNS Lesch Nyhan disease Lesch Nyhan syndrome Lesch-Nyhan syndrome, neurologic variant hypoxanthine guanine phospho-ribosyltransferase 1 deficiency hypoxanthine guanine phosphoribosyltransferase 1 deficiency hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]) MONDO:0010298 Lesch-Nyhan syndrome Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout. ICD10:E79.8 ICD9:277.2 MESH:C562583 OMIM:300323 Orphanet:79233 SCTID:238007004 UMLS:C0268117 HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I HPRT deficiency, partial Hprt1 deficiency, partial KELLEY-Seegmiller syndrome gout, HPRT-related hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B. DOID:0111098 MESH:C564497 NCIT:C125703 OMIM:300514 UMLS:C1845292 FA2 FACB FANCB Fanconi Anemia, complementation group type B Fanconi anemia complementation group type B Fanconi pancytopenia type 2 Fanconi anemia, complementation group B Fanconi pancytopenia, type 2 facb MONDO:0010351 Fanconi anemia complementation group b Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. ICD10:E22.2 MESH:C564491 OMIM:300539 Orphanet:93606 SCTID:723440000 UMLS:C1845202 NSIAD nephrogenic syndrome of inappropriate antidiuresis MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features. ICD10:N25.8 MESH:C564487 OMIM:300555 Orphanet:93623 SCTID:717790004 UMLS:C1845167 UMLS:C4305529 Dent disease caused by mutation in OCRL Dent disease type 2 OCRL Dent disease nephrolithiasis type 2 DENT disease 2 MONDO:0010359 Dent disease type 2 Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). DOID:0111260 ICD10:E79.8 MESH:C567064 OMIM:300661 Orphanet:3222 SCTID:723454008 UMLS:C1970827 PRPP synthetase superactivity PRPS1 superactivity phosphoribosylpyrophosphate synthetase superactivity gout, PRPS-related MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene. OMIM:300818 UMLS:C3806670 PIGA paroxysmal nocturnal hemoglobinuria pIgA paroxysmal nocturnal hemoglobinuria paroxysmal nocturnal hemoglobinuria 1 paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA paroxysmal nocturnal hemoglobinuria type 1 PNH1 MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 OMIM:300854 UMLS:C3275446 renal cell carcinoma, Xp11-associated RCCX1 MONDO:0010456 renal cell carcinoma, Xp11-associated Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene. DOID:0110147 ICD10:E26.8 OMIM:300971 UMLS:C4310820 BARTS5 Bartter syndrome caused by mutation in MAGED2 Bartter syndrome, type 5, antenatal, transient MAGED2 Bartter syndrome MONDO:0010503 Bartter disease type 5 X-linked form of Alport syndrome. DOID:0110034 GARD:0005785 ICD10:Q87.8 MedDRA:10001843 OMIM:301050 Orphanet:88917 SCTID:717768004 Alport syndrome, X-linked nephropathy and deafness, X-linked ATS congenital hereditary hematuria hemorrhagic familial nephritis hemorrhagic hereditary nephritis MONDO:0010520 X-linked Alport syndrome Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. DOID:14499 GARD:0006400 ICD10:E75.2 ICD10:E75.21 MESH:D000795 MedDRA:10016016 NCIT:C84701 OMIM:301500 Orphanet:324 SCTID:16652001 UMLS:C0002986 Alpha-galactosidase A deficiency Anderson-Fabry disease Fabry disease Fabry's disease Fd alpha galactosidase deficiency angiokeratoma corporis diffusum deficiency of melibiase diffuse angiokeratoma Fabry disease, Cardiac variant Gla deficiency angiokeratoma, diffuse ceramide trihexosidase deficiency hereditary dystopic lipidosis MONDO:0010526 Fabry disease OMIM:304800 UMLS:C1563705 diabetes insipidus, nephrogenic, X-linked Ndi diabetes insipidus, nephrogenic, type 1 MONDO:0010581 diabetes insipidus, nephrogenic, X-linked MESH:C564423 OMIM:305800 UMLS:C1844501 membranoproliferative glomerulonephritis, X-linked Mesangiocapillary glomerulonephritis, X-linked MONDO:0010596 membranoproliferative glomerulonephritis, X-linked MESH:C564405 OMIM:307830 UMLS:C1843972 hypouricemia, familial renal, due to tubular hypersecretion MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. GARD:0002432 ICD10:Q87.8 MESH:C537113 OMIM:308940 Orphanet:1018 Xq22.3 microdeletion syndrome ATS-DL Alport syndrome and diffuse leiomyomatosis Alport syndrome with diffuse leiomyomatosis DL-ATS chromosome Xq22.3 centromeric deletion syndrome diffuse leiomyomatosis in Alport syndrome leiomyomatosis, diffuse, with Alport syndrome leiomyomatosis, esophageal and vulval, with nephropathy MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome OMIM:308950 Lesch-Nyhan phenotype with normal HGPRT MONDO:0010642 Lesch-Nyhan phenotype with normal HGPRT OMIM:308990 UMLS:C1839874 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis MONDO:0010644 Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact proteinuria is sometimes a feature of dent disease. We capture this separately in annotations proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. DOID:1056 GARD:0003295 ICD10:E72.0 ICD10:E72.03 ICD9:270.8 MESH:D009800 MedDRA:10051707 NCIT:C84940 OMIM:309000 Orphanet:534 SCTID:79385002 UMLS:C0028860 Lowe disease Lowe oculo-cerebro-renal syndrome Lowe oculocerebrorenal syndrome Lowe syndrome OCR OCRL oculo-cerebro-renal dystrophy oculo-cerebro-renal syndrome oculocerebrorenal dystrophy oculocerebrorenal syndrome of Lowe phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency Ocrl1 phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency MONDO:0010645 oculocerebrorenal syndrome MESH:C562901 OMIM:310468 SCTID:236713006 nephrolithiasis, X-linked recessive, with renal failure XRN nephrolithiasis 1 nephrolithiasis, X-linked recessive, type 1 urolithiasis, X-linked recessive, type 1 MONDO:0010687 Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact nephrolithiasis is sometimes a feature of dent disease. We capture this separately in annotations nephrolithiasis, X-linked recessive, with renal failure Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. DOID:0060316 GARD:0004121 ICD10:Q87.0 MESH:C537134 NCIT:C75481 OMIM:311200 Orphanet:2750 SCTID:763833006 UMLS:C1510460 UMLS:C2698658 OFD syndrome 1 OFD1 OFDI OFDS 1 OFDSI Papillon-Leage and Psaume syndrome Papillon-Leage-Psaume syndrome Papillon-Léage-Psaume syndrome Papillon-league-Psaume syndrome (formerly) oral facial digital syndrome 1 oral facial digital syndrome type 1 oral-facial-digital syndrome 1 oral-facial-digital syndrome type 1 oral-facial-digital syndrome, type 1 orofaciodigital syndrome 1 orofaciodigital syndrome I orofaciodigital syndrome type 1 orofaciodigital syndrome type I MONDO:0010702 orofaciodigital syndrome I Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk. GARD:0007649 ICD10:Q87.3 ICD9:759.89 MESH:C537340 NCIT:C131002 Orphanet:373 SCTID:439143004 DGSX Golabi-Rosen syndrome SDYS SGB syndrome SGBS Sara Angers syndrome X-linked dysplasia gigantism syndrome Sgbs dysplasia gigantism syndrome, X-linked MONDO:0010731 Simpson-Golabi-Behmel syndrome https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome DOID:0111766 GARD:0008498 OMIM:314390 UMLS:C2931228 VACTERL association, X-linked, with or without hydrocephalus VACTERL association with hydrocephaly, X-linked VACTERL-H, X-linked VACTERLX X-linked VACTERL-H syndrome MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05) NCIT:C7072 OMIM:553000 UMLS:C1378050 oncocytic neoplasm oncocytic tumor oncocytoma oncocytoma, benign MONDO:0010795 oncocytic neoplasm Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. GARD:0004532 ICD10:Q87.8 MESH:C564014 OMIM:560000 Orphanet:3390 UMLS:C3151959 proximal tubulopathy, diabetes mellitus and cerebellar ataxia renal tubulopathy, diabetes mellitus, and cerebellar ataxia renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. DOID:0080174 GARD:0006398 HP:0002836 ICD10:Q64.1 ICD9:753.5 NCIT:C123207 OMIM:600057 Orphanet:93930 SCTID:61758007 UMLS:C0005689 bladder exstrophy classic exstrophy of the bladder ectopia vesicae bladder exstrophy and epispadias Complex exstrophy of bladder exstrophy of the bladder MONDO:0010805 bladder exstrophy (disease) DOID:0110125 GARD:0000822 ICD10:Q87.89 MESH:C537911 OMIM:600151 UMLS:C1859564 BBS3 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome type 3 MONDO:0010832 Bardet-Biedl syndrome 3 https://rarediseases.info.nih.gov/diseases/822/bardet-biedl-syndrome-3 Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. COHD:136934 DOID:11202 EFO:0008519 GARD:0008612 HP:0008200 ICD10:E21.0 ICD9:252.01 MESH:D049950 NCIT:C48280 SCTID:36348003 familial benign hypercalcemia familial primary hyperparathyroidism primary hyperparathyroidism MONDO:0010837 Editor note: check relationship to parent and familiar form primary hyperparathyroidism (disease) Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). GARD:0009481 MESH:C536328 OMIM:600273 Orphanet:88924 SCTID:765331004 UMLS:C1838327 tuberous sclerosis/polycystic kidney disease contiguous gene syndrome PKDTS chromosome 16P13.3 deletion syndrome, distal polycystic kidney disease, infantile severe, with tuberous sclerosis polycystic kidneys, severe infantile with tuberous sclerosis tuberous sclerosis polycystic kidney disease contiguous gene syndrome MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene. DOID:0110860 OMIM:600666 UMLS:C3887964 Apkd3 GANAB autosomal dominant polycystic kidney disease PKD3 Pkd3 autosomal dominant polycystic kidney disease caused by mutation in GANAB polycystic kidney disease 3 polycystic kidney disease 3 with or without polycystic liver disease polycystic kidney disease 3, autosomal dominant polycystic kidney disease type 3 polycystic kidney disease, adult, type 3 polycystic kidney disease, adult, type III polycystic kidney disease, type 3 MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. DOID:0111084 NCIT:C125709 OMIM:600901 UMLS:C3160739 FANCE FANCE Fanconi anemia Fanconi Anemia, complementation group type E Fanconi anemia caused by mutation in FANCE Fanconi anemia complementation group type E face Fanconi anemia, complementation group E MONDO:0010953 Fanconi anemia complementation group E Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging. GARD:0003005 MESH:C535528 OMIM:600989 Orphanet:1849 SCTID:725905005 UMLS:C1832949 infundibulopelvic dysgenesis MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene. DOID:0080379 GARD:0003946 OMIM:600995 NPHS2 nephrotic syndrome nephrotic syndrome caused by mutation in NPHS2 nephrotic syndrome, type 2 NPHS2 SRN1 nephrotic syndrome, idiopathic, steroid-resistant nephrotic syndrome, steroid-resistant, autosomal recessive MONDO:0010974 nephrotic syndrome, type 2 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used. GARD:0005513 ICD10:Q87.8 OMIM:601076 Orphanet:2578 SCTID:717705004 MRKH syndrome type 2 MURCS association Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome atypical MRKH syndrome Klippel-Feil deformity, conductive deafness, and absent vagina MRKH, type 2 MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies MURCS Mayer-Rokitansky-Kuster-Hauser syndrome, type 2 MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MESH:C563336 OMIM:601363 UMLS:C1832426 Wilms tumor 4 Wilms tumor type 4 WT4 familial Wilms tumor 1 MONDO:0011056 Wilms tumor 4 OMIM:601539 UMLS:CN168921 peroxisome biogenesis disorder 1B peroxisome biogenesis disorder type 1B PBD1B Refsum disease, infantile adrenoleukodystrophy, autosomal neonatal infantile phytanic acid storage disease peroxisome biogenesis disorder (NALD/Ird) peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease) MONDO:0011101 peroxisome biogenesis disorder 1B Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene. GARD:0005578 MESH:C536707 OMIM:601583 Wilms tumor 5 Wilms tumor type 5 WT5 Wilms tumor and radial bilateral aplasia Wilms tumor, susceptibility to bilateral radial aplasia with Wilms tumor MONDO:0011112 Wilms tumor 5 DOID:0050786 Orphanet:98634 IRID MONDO:0011119 Editor note: see https://github.com/monarch-initiative/mondo/issues/203; this groups IRID1 and IRID2 iridogoniodysgenesis A disorder involving an excessive amount of body fat. COHD:433736 DOID:9970 EFO:0001073 HP:0001513 ICD10:E66.9 ICD9:278.0 ICD9:278.00 NCIT:C3283 NIFSTD:nlx_dys_20090302 SCTID:414916001 UMLS:C0028754 obesity obesity disease leanness MONDO:0011122 Obesity is a complex disease that may involve multiple environmental and genetic causes. See the subclass monogenic disease for genetic subtypes obesity disorder Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome DOID:0110142 GARD:0000830 ICD10:E26.8 MESH:C537652 OMIM:601678 Orphanet:93604 SCTID:700107006 BARTS1 Bartter syndrome caused by mutation in SLC12A1 Bartter syndrome type 1 Bartter syndrome type 1 antenatal Bartter syndrome, furosemide type Bartter syndrome, furosemide-amiloride type SLC12A1 Bartter syndrome hyperprostaglandin E syndrome hyperprostaglandin E syndrome 1 hypokalemic alkalosis with hypercalciuria 1 antenatal Bartter syndrome antenatal type 1 Bartter syndrome, antenatal, type 1 Bartter syndrome, type 1, antenatal antenatal Bartter syndrome antenatal Bartter syndrome type 1 hypokalemic alkalosis with hypercalciuria 1, antenatal hypokalemic alkalosis with hypercalciuria antenatal 1 hypokalemic alkalosis with hypercalciuria, antenatal, 1 MONDO:0011127 Bartter disease type 1 Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations. GARD:0000545 GARD:0008486 ICD10:Q79.6 MESH:C000600608 Orphanet:2953 SCTID:720860004 ATCS CHST14-related EDS CHST14-related Ehlers-Danlos syndrome D4ST1-deficient EDS D4ST1-deficient Ehlers-Danlos syndrome EDS, Kosho type EDS, arthrogryposic type EDS, musculocontractural type Ehlers-Danlos syndrome, Kosho type Ehlers-Danlos syndrome, arthrogryposic type MCEDS adducted thumb-clubfoot syndrome adducted thumbs-arthrogryposis syndrome, Dundar type musculocontractural Ehlers-Danlos syndrome Dundar syndrome EDS6B, formerly EDSMC EDSMC1 EDSmc Ehlers-Danlos syndrome, musculocontractural type 1 Ehlers-Danlos syndrome, musculocontractural type, 1 Ehlers-Danlos syndrome, type VIB, formerly Ehlers-Danlos syndrome, type Vib Ehlers-Danlos syndrome, type Vib, formerly adducted thumb clubfoot syndrome adducted thumb, clubfoot, and progressive joint and skin laxity syndrome adducted thumb-club foot syndrome adducted thumbs Dundar type arthrogryposis, distal, with peculiar facies and hydronephrosis autosomal recessive adducted thumb-club foot syndrome musculocontractural EDS MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type https://rarediseases.info.nih.gov/diseases/545/adducted-thumbs-dundar-type Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene. GARD:0009914 OMIM:601894 SCTID:722759007 FN1 fibronectin glomerulopathy fibronectin glomerulopathy caused by mutation in FN1 glomerulopathy with fibronectin deposits 2 glomerulopathy with fibronectin deposits type 2 GFND2 fibronectin glomerulopathy glomerular nephritis familial with fibronectin deposits glomerular nephritis, familial, with fibronectin deposits MONDO:0011165 glomerulopathy with fibronectin deposits 2 Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. DOID:0060883 GARD:0013072 ICD10:E83.4 MESH:C566593 OMIM:602014 Orphanet:30924 SCTID:190856003 UMLS:C1865974 HOMG1 HSH PHSH TRPM6 familial primary hypomagnesemia TRPM6 primary hypomagnesemia familial primary hypomagnesemia caused by mutation in TRPM6 hypomagnesemia caused by selective magnesium malabsorption hypomagnesemia intestinal type 1 hypomagnesemic tetany intestinal hypomagnesemia type 1 intestinal hypomagnesemia with secondary hypocalcemia primary hypomagnesemia caused by mutation in TRPM6 primary hypomagnesemia with secondary hypocalcemia Homg hypomagnesemia 1, intestinal hypomagnesemia with secondary hypocalcemia hypomagnesemia, intestinal, with secondary hypocalcemia MONDO:0011176 intestinal hypomagnesemia 1 Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene. DOID:0111113 MESH:C566582 OMIM:602088 Orphanet:93591 UMLS:C1865872 INVS nephronophthisis (disease) NPH2 NPHP2 infantile nephronophthisis 2 nephronophthisis (disease) caused by mutation in INVS nephronophthisis 2 nephronophthisis type 2 Nph2 MONDO:0011190 nephronophthisis 2 RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. GARD:0009681 MESH:C537612 OMIM:602152 Orphanet:140976 SCTID:723999009 UMLS:C1865794 RHYNS syndrome retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome retinitis pigmentosa syndrome retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia MONDO:0011202 RHYNS syndrome Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene. DOID:0110145 ICD10:E26.8 OMIM:602522 SCTID:717791000 UMLS:C1865270 BARTS4A BSND BSND Bartter syndrome Bartter syndrome caused by mutation in BSND Bartter syndrome type 4a neonatal Bartter syndrome with sensorineural deafness Bartter syndrome, infantile, with sensorineural deafness Bartter syndrome, neonatal, with sensorineural deafness Bartter syndrome, type 4A Bartter syndrome, type 4A, neonatal, with sensorineural deafness sensorineural deafness with mild renal dysfunction MONDO:0011242 Bartter disease type 4a GARD:0004669 OMIM:602722 classical distal RTA classical distal renal tubular acidosis renal tubular acidosis, distal, autosomal recessive type 1 RTA type 1 renal tubular acidosis RTA, distal, autosomal recessive RTADR renal tubular acidosis, autosomal recessive with preserved hearing renal tubular acidosis, autosomal recessive, with preserved hearing renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene. DOID:0070116 GARD:0008743 ICD10:Q61.9 MESH:C536131 OMIM:603194 UMLS:C1864148 MKS2 Meckel syndrome caused by mutation in TMEM216 Meckel syndrome, type 2 Meckel-Gruber syndrome, type 2 TMEM216 Meckel syndrome Meckel syndrome 2 Meckel syndrome type 2 MONDO:0011296 Meckel syndrome, type 2 https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2 Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. DOID:0080222 GARD:0010680 ICD10:E20.1 MESH:C548075 OMIM:603233 Orphanet:94089 UMLS:C2932715 PHP1B Php 1B pseudohypoparathyroidism type IB pseudohypoparathyroidism, type 1B pseudohypoparathyroidism, type IB MONDO:0011301 pseudohypoparathyroidism type 1B https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene. DOID:0111128 ICD10:N04.1 MESH:C538457 OMIM:603278 Orphanet:93213 ACTN4 focal segmental glomerulosclerosis FSGS1 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis focal segmental glomerulosclerosis 1 focal segmental glomerulosclerosis caused by mutation in ACTN4 focal segmental glomerulosclerosis type 1 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis glomerulosclerosis, focal segmental, 1 MONDO:0011303 focal segmental glomerulosclerosis 1 ICD10:E05.8 ICD9:242.80 ICD9:648.10 MESH:C566384 OMIM:603373 Orphanet:99819 SCTID:703309000 UMLS:C1863959 hyperthyroidism, familial gestational MONDO:0011309 familial gestational hyperthyroidism Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. DOID:0111088 EFO:0009045 NCIT:C125707 OMIM:603467 FANCF Fanconi Anemia, complementation group type F Fanconi anemia complementation group type F Fanconi anemia, complementation group F MONDO:0011325 Fanconi anemia complementation group f SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. DOID:0070258 GARD:0012409 ICD10:E77.8 MESH:C567040 OMIM:603585 Orphanet:238459 SCTID:723624008 UMLS:C1970344 CDG syndrome type IIf CDG-IIf CDG2F CMP-sialic acid transporter deficiency carbohydrate deficient glycoprotein syndrome type IIf congenital disorder of glycosylation type 2f congenital disorder of glycosylation type IIf CDG IIf SLC35A1-CDG (CDG-IIf) congenital disorder of glycosylation, type IIf MONDO:0011342 SLC35A1-CDG Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. GARD:0005620 ICD10:E79.8 MESH:C566358 OMIM:603592 Orphanet:93602 UMLS:C1863688 XAN2 XDH and AOX dual deficiency xanthine dehydrogenase and aldehyde oxidase, combined deficiency of xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency type 2 xanthinuria type II xanthinuria xanthine dehydrogenase and aldehyde oxidase combined deficiency of xanthinuria type 2 xanthinuria, type 2 xanthinuria, type II MONDO:0011346 xanthinuria type II https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-2 An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. EFO:0008618 NCIT:C123172 OMIM:603860 SCTID:445503007 UMLS:C4054550 medullary cystic kidney disease 2 medullary cystic kidney disease type 2 medullary cystic kidney disease type II MCKD2 medullary cystic kidney disease 2, autosomal dominant MONDO:0011379 medullary cystic kidney disease 2 Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. ICD10:D56.1 MESH:C565834 OMIM:603902 Orphanet:231226 SCTID:716682000 UMLS:C1858990 UMLS:C4274391 inclusion body beta-thalassemia BETA-thalassemia, dominant inclusion body type dyserythropoietic Anemia, congenital, Irish or Weatherall type MONDO:0011381 dominant beta-thalassemia Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur. DOID:10923 EFO:1001797 GARD:0008614 ICD10:D57 ICD10:D57.0 ICD10:D57.1 ICD10:D57.2 ICD10:D57.20 ICD9:282.6 ICD9:282.60 ICD9:282.63 MESH:D000755 MedDRA:10040641 NCIT:C34383 OMIM:603903 Orphanet:232 UMLS:C0002895 Hb SC disease Hb-S/Hb-C disease Hb-SS disease without crisis Hemoglobin S disease without crisis drepanocytosis hemoglobin SC disease sickle cell anemia sickle cell disease sickle-cell/Hb-C disease without crisis sickling disorder due to Hemoglobin S HbS disease Hemoglobin S disease MONDO:0011382 sickle cell anemia OMIM:603918 hypertension, essential, susceptibility to, 1 hypertension, essential, susceptibility to, type 1 Hyt1 MONDO:0011384 hypertension, essential, susceptibility to, 1 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene. DOID:0111129 ICD10:N04.1 MESH:C565831 OMIM:603965 UMLS:C1858915 FSGS2 TRPC6 focal segmental glomerulosclerosis focal segmental glomerulosclerosis 2 focal segmental glomerulosclerosis caused by mutation in TRPC6 focal segmental glomerulosclerosis type 2 glomerulosclerosis, focal segmental, 2 MONDO:0011390 focal segmental glomerulosclerosis 2 Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. COHD:4287844 DOID:1099 GARD:0000621 ICD10:D56.0 ICD9:282.43 ICD9:282.49 MESH:D017085 MedDRA:10043390 NCIT:C34368 OMIM:604131 Orphanet:846 SCTID:68913001 UMLS:C0002312 Alpha thalassaemia alpha-thalassemia A-thalassemia MONDO:0011399 alpha thalassemia Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features. MESH:C567038 OMIM:604278 Orphanet:93607 UMLS:C1970309 AR pRTA proximal renal tubular acidosis with ocular abnormalities and intellectual disability proximal renal tubular acidosis, autosomal recessive RTA, proximal, autosomal recessive renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability renal tubular acidosis, proximal, with ocular abnormalities and mental retardation MONDO:0011422 autosomal recessive proximal renal tubular acidosis Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene. DOID:0060783 ICD10:Q82.4 MESH:C565799 OMIM:604292 EEC syndrome 3 EEC syndrome caused by mutation in TP63 EEC3 TP63 EEC syndrome ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3 ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3 MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 OMIM:604329 hypertension, essential, susceptibility to, 2 hypertension, essential, susceptibility to, type 2 Hyt2 MONDO:0011440 hypertension, essential, susceptibility to, 2 Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene. DOID:0111114 MESH:C565780 OMIM:604387 UMLS:C1858392 NPH3 NPHP3 NPHP3 nephronophthisis (disease) nephronophthisis (disease) caused by mutation in NPHP3 nephronophthisis 3 nephronophthisis type 3 Nph3 MONDO:0011456 nephronophthisis 3 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery. ICD10:I15.1 MESH:C565359 OMIM:605115 Orphanet:88660 SCTID:766937004 UMLS:C1854631 early-onset hypertension with exacerbation in pregnancy hypertension due to gain-of-function mutations in the mineralocorticoid receptor hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy MONDO:0011517 pseudohyperaldosteronism type 2 DOID:0110128 GARD:0010205 ICD10:Q87.89 MESH:C565738 OMIM:605231 UMLS:C1858054 BBS6 Bardet-Biedl syndrome 6 Bardet-Biedl syndrome type 6 MONDO:0011523 Bardet-Biedl syndrome 6 https://rarediseases.info.nih.gov/diseases/10205/bardet-biedl-syndrome-6 DOID:0060580 GARD:0010698 MESH:C548081 OMIM:605275 UMLS:C1854469 NS2 Noonan syndrome 2 Noonan syndrome type 2 Noonan syndrome autosomal recessive Noonan syndrome, autosomal recessive autosomal recessive Noonan syndrome MONDO:0011531 Noonan syndrome 2 https://rarediseases.info.nih.gov/diseases/10698/noonan-syndrome-2 Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC). ICD10:C64 ICD10:C73 MESH:C565310 OMIM:605642 Orphanet:97290 SCTID:717734005 UMLS:C1854104 ptc-RCC Prn1 Ptcprn thyroid carcinoma, papillary, with papillary renal neoplasia MONDO:0011578 Editor note: check MONDO:0000201 thyroid cancer, nonmedullary familial papillary thyroid carcinoma with renal papillary neoplasia Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML. DOID:0111089 MESH:C563980 NCIT:C125705 OMIM:605724 Orphanet:319462 SCTID:766707003 UMLS:C1838457 FAD1 FANCD1 Fad1 Fanconi anemia, complementation group D1 inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations MONDO:0011584 Fanconi anemia complementation group D1 Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. DOID:0060858 EFO:0007550 ICD10:E72.0 MESH:C564710 OMIM:606407 Orphanet:163690 SCTID:721173005 HCS cystinuria with mitochondrial disease hypotonia-cystinuria syndrome homozygous 2P16 deletion syndrome homozygous 2P16 deletion syndrome, formerly homozygous 2P21 deletion syndrome MONDO:0011669 Editor note: check this. ORDO has type 1 as a superclass hypotonia-cystinuria syndrome Autosomal recessive form of craniosynostosis. MESH:C564700 OMIM:606529 UMLS:C1847865 autosomal recessive craniosynostosis craniosynostosis syndrome, autosomal recessive craniosynostosis, autosomal recessive MONDO:0011679 craniosynostosis syndrome, autosomal recessive Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene. DOID:0111115 MESH:C564640 OMIM:606966 SCTID:446989009 UMLS:C1847013 UMLS:C2959367 NPHP4 NPHP4 nephronophthisis (disease) juvenile nephronophthisis 4 nephronophthisis (disease) caused by mutation in NPHP4 nephronophthisis 4 nephronophthisis type 4 nephronophthisis 4, juvenile MONDO:0011752 nephronophthisis 4 MESH:C564637 OMIM:606995 UMLS:C1846980 SLSN3 SENIOR-Loken syndrome 3 MONDO:0011755 SLSN3 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene. MESH:C537581 OMIM:606996 UMLS:C1846979 NPHP4 Senior-Loken syndrome Senior-Loken syndrome 4 Senior-Loken syndrome caused by mutation in NPHP4 Senior-Loken syndrome type 4 SENIOR-Loken syndrome 4 SLSN4 MONDO:0011756 Senior-Loken syndrome 4 MESH:C564600 OMIM:607258 UMLS:C1846573 hypercalciuria, absorptive, 1 hypercalciuria, absorptive, type 1 Hca1 MONDO:0011802 hypercalciuria, absorptive, 1 OMIM:607329 UMLS:C1846430 hypertension, essential, susceptibility to, 3 hypertension, essential, susceptibility to, type 3 Hyt3 MONDO:0011815 hypertension, essential, susceptibility to, 3 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene. DOID:0070117 GARD:0008744 ICD10:Q61.9 MESH:C536132 OMIM:607361 UMLS:C1846357 MKS3 Meckel syndrome caused by mutation in TMEM67 Meckel syndrome, type 3 Meckel-Gruber syndrome, type 3 TMEM67 Meckel syndrome Meckel syndrome 3 Meckel syndrome type 3 MONDO:0011821 Meckel syndrome, type 3 https://rarediseases.info.nih.gov/diseases/8744/meckel-syndrome-type-3 Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. DOID:0110144 GARD:0009659 ICD10:E26.8 OMIM:607364 Orphanet:93605 SCTID:700111000 UMLS:C1846343 BARTS3 Bartter syndrome type 3 Bartter syndrome type III adult Bartter syndrome classic Bartter syndrome Bartter syndrome classic Bartter syndrome, classic Bartter syndrome, type 3 Bartter syndrome, type 3, with hypocalciuria MONDO:0011822 Bartter disease type 3 An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. GARD:0009252 ICD10:N10 MedDRA:10069034 MedDRA:10069039 NCIT:C123021 OMIM:607665 Orphanet:91500 UMLS:C1843273 Dobrin syndrome TINU syndrome Tubulointerstitial nephritis and uveitis acute tubulointerstitial nephritis and uveitis syndrome TINU TUBULOINTERSTITIAL nephritis with uveitis acute Tubulointerstitial nephritis MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome (11q14.1), resulting in a block in the initial step of protein glycosylation. DOID:0080560 GARD:0009834 ICD10:E77.8 MESH:C535746 OMIM:608104 Orphanet:79325 SCTID:720977000 UMLS:C2931002 CDG syndrome type Ih CDG-Ih CDG1H carbohydrate deficient glycoprotein syndrome type Ih congenital disorder of glycosylation type 1h congenital disorder of glycosylation type Ih glucosyltransferase 2 deficiency ALG8-CDG (CDG-Ih) CDG 1H CDG Ih congenital disorder of glycosylation, type Ih MONDO:0011969 ALG8-CDG Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. ICD10:Q87.8 MESH:C564244 OMIM:608406 Orphanet:52047 SCTID:720575002 UMLS:C1842082 UMLS:C4303988 Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency MONDO:0012032 Braddock syndrome A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis. Wg COHD:313223 DOID:12132 EFO:0005297 GARD:0007880 ICD10:M31.3 ICD10:M31.30 ICD9:446.4 MESH:D014890 MedDRA:10047888 NCIT:C123111 OMIM:608710 Orphanet:900 SCTID:195353004 UMLS:C3495801 UMLS:C4050407 ANCA-associated vasculitis GPA Wegener granulomatosis Wegener's granulomatosis Wegener's syndrome granulomatosis - Wegener's granulomatosis with polyangiitis necrotizing respiratory granulomatosis pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis Midline granulomatosis MONDO:0012105 granulomatosis with polyangiitis OMIM:608742 UMLS:C1837479 hypertension, essential, susceptibility to, 4 hypertension, essential, susceptibility to, type 4 Hyt4 MONDO:0012109 hypertension, essential, susceptibility to, 4 BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. GARD:0010595 ICD10:Q87.8 MESH:C567672 OMIM:608980 Orphanet:217266 SCTID:717940006 UMLS:C2750433 UMLS:C4303547 bifid nose with or without anorectal and renal anomalies BNAR bifid NOSE with or without anorectal and renal anomalies MONDO:0012165 BNAR syndrome Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria. DOID:0060852 GARD:0003945 GARD:0009420 ICD10:N04.8 MESH:C537185 NCIT:C128145 OMIM:609049 Orphanet:2670 SCTID:723449004 UMLS:C1836876 Pierson syndrome microcoria-congenital nephrosis syndrome microcoria - congenital nephrosis microcoria - congenital nephrotic syndrome microcoria-congenital nephrotic syndrome MONDO:0012184 Pierson syndrome https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein. DOID:0111091 MESH:C563802 NCIT:C129026 OMIM:609053 UMLS:C1836861 FANCI Fanconi Anemia, complementation group type 1 Fanconi anemia complementation group type I Fanconi Anemia, complementation Group 1 Fanconi anemia, complementation group I MONDO:0012186 Fanconi anemia complementation group I Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein. DOID:0111097 MESH:C563801 NCIT:C129027 OMIM:609054 UMLS:C1836860 FANCJ Fanconi Anemia, complementation group type J Fanconi anemia complementation group type J Fanconi anemia, complementation group J MONDO:0012187 Fanconi anemia complementation group j MESH:C563798 OMIM:609057 Orphanet:300333 UMLS:C1836823 nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome nephropathy with pretibial epidermolysis bullosa and deafness MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome Aplastic anemia without a known cause. GARD:0005836 ICD10:D61.0 ICD10:D61.3 MESH:C538494 NCIT:C61230 OMIM:609135 Orphanet:88 SCTID:191256002 UMLS:C0348890 idiopathic aplastic aplasia idiopathic bone marrow failure anemia aplastic aplastic Anemia, susceptibility to aplastic anemia aplastic anemia idiopathic secondary aplastic anemia MONDO:0012197 idiopathic aplastic anemia Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. GARD:0002858 ICD10:E05.8 MESH:C563786 OMIM:609152 Orphanet:424 UMLS:C1836706 familial non-immune hyperthyroidism resistance to thyroid stimulating hormone Nonautoimmune hyperthyroidism hyperthyroidism, NONAUTOIMMUNE hyperthyroidism, Nonautoimmune, autosomal dominant hyperthyroidism, congenital Nonautoimmune toxic thyroid hyperplasia, autosomal dominant MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene. MESH:C563763 OMIM:609254 UMLS:C1836517 IQCB1 Senior-Loken syndrome Senior-Loken syndrome 5 Senior-Loken syndrome caused by mutation in IQCB1 Senior-Loken syndrome type 5 SENIOR-Loken syndrome 5 SLSN5 MONDO:0012225 Senior-Loken syndrome 5 ICD10:Q87.8 MESH:C563731 OMIM:609345 Orphanet:1396 UMLS:C1836287 CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula MONDO:0012257 Cerebrorenodigital syndrome OMIM:609402 UMLS:C1836257 PEE2 PREECLAMPSIA/eclampsia 2 MONDO:0012264 PEE2 OMIM:609403 UMLS:C1836256 PEE3 PREECLAMPSIA/eclampsia 3 MONDO:0012265 PEE3 Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene. MESH:C563724 OMIM:609404 UMLS:C1836255 Preeclampsia/eclampsia type 4 STOX1 preeclampsia preeclampsia caused by mutation in STOX1 preeclampsia/eclampsia 4 PEE4 PREECLAMPSIA/eclampsia 4 MONDO:0012266 preeclampsia/eclampsia 4 Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. DOID:0110999 GARD:0010169 ICD10:Q04.3 ICD10:Q61.5 MESH:C536296 NCIT:C74997 OMIM:609583 Orphanet:220497 SCTID:716999001 JBTS4 JS-R Joubert syndrome type 4 Joubert syndrome 4 Joubert syndrome with renal anomalies MONDO:0012308 Joubert syndrome with renal defect https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies ICD9:279.8 MESH:C562875 OMIM:609814 SCTID:234622003 complement factor H deficiency CFHD Cfh deficiency factor H deficiency MONDO:0012350 complement factor H deficiency MESH:C563693 OMIM:609886 UMLS:C1835934 glomerulocystic kidney disease with hyperuricemia and isosthenuria MONDO:0012356 glomerulocystic kidney disease with hyperuricemia and isosthenuria Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene. DOID:0060581 GARD:0009885 MESH:C537847 OMIM:609942 UMLS:C1860991 KRAS Noonan syndrome KRAS gene related Noonan syndrome NS3 Noonan syndrome 3 Noonan syndrome caused by mutation in KRAS Noonan syndrome type 3 MONDO:0012371 Noonan syndrome 3 https://rarediseases.info.nih.gov/diseases/9885/noonan-syndrome-3 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene. MESH:C565708 OMIM:610189 UMLS:C1857779 CEP290 Senior-Loken syndrome Senior-Loken syndrome 6 Senior-Loken syndrome caused by mutation in CEP290 Senior-Loken syndrome type 6 SENIOR-Loken syndrome 6 SLSN6 MONDO:0012433 Senior-Loken syndrome 6 A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others DOID:0060638 MESH:C565705 OMIM:610199 Orphanet:79118 UMLS:C1857775 NDH syndrome NDH Ndh syndrome diabetes mellitus, neonatal, with congenital hypothyroidism neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism ICD10:Q44.7 OMIM:610205 Orphanet:261629 UMLS:C1857761 Alagille syndrome type 2 Alagille-Watson syndrome due to a NOTCH2 point mutation Arteriohepatic dysplasia due to a NOTCH2 point mutation syndromic bile duct paucity due to a NOTCH2 point mutation ALGS2 Alagille syndrome 2 MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation OMIM:610261 hypertension, essential, susceptibility to, 5 hypertension, essential, susceptibility to, type 5 Hyt5 hypertension, essential, body Mass-related MONDO:0012458 hypertension, essential, susceptibility to, 5 OMIM:610262 hypertension, essential, susceptibility to, 6 hypertension, essential, susceptibility to, type 6 Hyt6 hypertension, essential, kidney function-related MONDO:0012459 hypertension, essential, susceptibility to, 6 Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders. GARD:0010754 ICD10:Q87.2 OMIM:610543 Orphanet:353281 UMLS:C1864648 16p13.3 deletion syndrome Rsts deletion syndrome Rubinstein-Taybi deletion syndrome chromosome 16p13.3 deletion syndrome, proximal MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion https://rarediseases.info.nih.gov/diseases/10754/chromosome-16p133-deletion-syndrome Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene. DOID:0080382 OMIM:610725 UMLS:C1853124 PLCE1 nephrotic syndrome nephrotic syndrome caused by mutation in PLCE1 nephrotic syndrome, type 3 NPHS3 nephrotic syndrome, early-onset, type 3 MONDO:0012546 nephrotic syndrome, type 3 Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene. DOID:0060582 GARD:0010699 MESH:C548082 OMIM:610733 UMLS:C1853120 NS4 Noonan syndrome 4 Noonan syndrome caused by mutation in SOS1 Noonan syndrome type 4 SOS1 Noonan syndrome SOS1 gene related Noonan syndrome MONDO:0012547 Noonan syndrome 4 https://rarediseases.info.nih.gov/diseases/10699/noonan-syndrome-4 Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene. DOID:0080206 MESH:C563661 OMIM:610805 UMLS:C1835826 CAKUT1 DSTYK congenital anomaly of kidney and urinary tract congenital anomalies of kidney and urinary tract 1 congenital anomaly of kidney and urinary tract caused by mutation in DSTYK renal hypodysplasia, nonsyndromic, 1 MONDO:0012561 congenital anomalies of kidney and urinary tract 1 Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene. DOID:0111094 MESH:C563657 OMIM:610832 UMLS:C1835817 FANCN Fanconi Anemia, complementation group type N Fanconi anemia caused by mutation in PALB2 Fanconi anemia complementation group type N PALB2 Fanconi anemia Fanconi anemia, complementation group N MONDO:0012565 Fanconi anemia complementation group N Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene. DOID:0111424 OMIM:610896 UMLS:C1970479 SIX5 branchio-oto-renal syndrome branchio-oto-renal syndrome caused by mutation in SIX5 branchiootorenal syndrome 2 branchiootorenal syndrome type 2 BOR2 MONDO:0012575 branchiootorenal syndrome 2 OMIM:610948 hypertension, essential, susceptibility to, 7 hypertension, essential, susceptibility to, type 7 Hyt7 MONDO:0012587 hypertension, essential, susceptibility to, 7 OMIM:611014 HYT8 hypertension, essential, susceptibility to, 8 MONDO:0012599 HYT8 Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene. DOID:0070118 ICD10:Q61.9 OMIM:611134 UMLS:C1970161 CEP290 Meckel syndrome MKS4 Meckel syndrome caused by mutation in CEP290 Meckel syndrome, type 4 Meckel-Gruber syndrome, type 4 Meckel syndrome 4 Meckel-like Cerebrorenodigital syndrome MONDO:0012626 Meckel syndrome, type 4 Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene. DOID:0110086 ICD10:Q77.2 MESH:C566982 OMIM:611263 UMLS:C1970005 ATD2 IFT80 Jeune syndrome Jeune syndrome caused by mutation in IFT80 SRTD2 asphyxiating thoracic dystrophy 2 asphyxiating thoracic dystrophy type 2 short-rib thoracic dysplasia 2 with or without polydactyly MONDO:0012644 asphyxiating thoracic dystrophy 2 Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene. DOID:0111116 MESH:C566930 OMIM:611498 UMLS:C1969092 GLIS2 nephronophthisis (disease) NPHP7 nephronophthisis (disease) caused by mutation in GLIS2 nephronophthisis 7 nephronophthisis type 7 MONDO:0012680 nephronophthisis 7 Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene. DOID:0060583 GARD:0010700 MESH:C548083 OMIM:611553 UMLS:C1969057 NS5 Noonan syndrome 5 Noonan syndrome caused by mutation in RAF1 Noonan syndrome type 5 RAF1 Noonan syndrome RAF1 gene related Noonan syndrome MONDO:0012690 Noonan syndrome 5 https://rarediseases.info.nih.gov/diseases/10700/noonan-syndrome-5 Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. DOID:0070119 ICD10:Q61.9 MESH:C566915 OMIM:611561 UMLS:C1969052 MKS5 Meckel syndrome caused by mutation in RPGRIP1L Meckel syndrome, type 5 Meckel-Gruber syndrome, type 5 RPGRIP1L Meckel syndrome Meckel syndrome 5 MONDO:0012695 Meckel syndrome, type 5 Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia. ICD10:N25.8 OMIM:611590 Orphanet:93610 UMLS:C1969038 dRTA with anemia distal renal tubular acidosis with anemia RTA, distal, autosomal recessive, with hemolytic Anemia renal tubular acidosis, distal, with hemolytic anemia renal tubular acidosis, distal, with normal Red cell morphology MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene. DOID:0060882 ICD10:E83.4 MESH:C567127 OMIM:611718 UMLS:C2673648 EGF familial primary hypomagnesemia EGF primary hypomagnesemia HOMG4 familial primary hypomagnesemia caused by mutation in EGF primary hypomagnesemia caused by mutation in EGF renal hypomagnesemia type 4 hypomagnesemia 4, renal hypomagnesemia, renal, Normocalciuric MONDO:0012717 renal hypomagnesemia 4 ICD10:N07.8 ICD9:272.8 ICD9:593.89 MESH:C567089 OMIM:611771 Orphanet:329481 SCTID:446923008 UMLS:C2673196 LPG lipoprotein glomerulopathy MONDO:0012725 lipoprotein glomerulopathy Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures. GARD:0010889 ICD10:I99 ICD9:758.89 MESH:C567088 OMIM:611773 Orphanet:73229 SCTID:702428000 UMLS:C2673195 HANAC syndrome hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome HANAC angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. DOID:0070353 MESH:C567434 OMIM:612018 Orphanet:247794 SCTID:722457005 UMLS:C2677587 CJMG CTRCT47 cataract 47 cataract, juvenile, with microcornea cataract, juvenile, with microcornea and glucosuria cataract, juvenile, with microcornea and glucosuria, formerly MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MESH:C567426 OMIM:612076 UMLS:C2677549 hypouricemia, renal, 2 hypouricemia, renal, type 2 RHUC2 gout susceptibility 2 uric acid concentration, serum, quantitative trait locus 2 MONDO:0012793 hypouricemia, renal, 2 The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. COHD:443727 DOID:1837 EFO:1000897 ICD9:250.1 ICD9:250.10 MESH:D016883 MedDRA:10012671 OMIM:612227 SCTID:420422005 UMLS:C0011880 diabetes mellitus, ketosis-prone ketosis-prone diabetes mellitus KPD MONDO:0012819 diabetic ketoacidosis Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN). DOID:0111161 ICD10:Q75.1 MESH:C567382 NCIT:C38145 OMIM:612247 Orphanet:93262 SCTID:702361006 CAN Chronic kidney allograft nephropathy Crouzon-dermoskeletal syndrome Crouzonodermoskeletal syndrome chronic allograft nephropathy Crouzon syndrome with acanthosis nigricans can MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene. DOID:0070120 ICD10:Q61.9 MESH:C567365 OMIM:612284 UMLS:C2676790 CC2D2A Meckel syndrome MKS6 Meckel syndrome caused by mutation in CC2D2A Meckel syndrome, type 6 Meckel-Gruber syndrome, type 6 Meckel syndrome 6 MONDO:0012848 Meckel syndrome, type 6 DOID:0080077 MESH:C567363 OMIM:612286 UMLS:C2676786 hypophosphatemic nephrolithiasis/osteoporosis type 1 nephrolithiasis/osteoporosis, hypophosphatemic, type 1 NPHLOP1 nephrolithiasis/osteoporosis, hypophosphatemic, 1 MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 DOID:0080078 MESH:C567362 OMIM:612287 UMLS:C2676782 hypophosphatemic nephrolithiasis/osteoporosis type 2 nephrolithiasis/osteoporosis, hypophosphatemic, type 2 NPHLOP2 nephrolithiasis/osteoporosis, hypophosphatemic, 2 MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha). GARD:0010681 ICD10:E20.1 MESH:C548076 OMIM:612462 Orphanet:79444 SCTID:717792007 UMLS:C2932716 PHP1C Php 1C pseudohypoparathyroidism, type 1C pseudohypoparathyroidism, type IC MONDO:0012911 pseudohypoparathyroidism type 1C https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP). DOID:4183 GARD:0007860 ICD10:E20.1 ICD9:275.49 MESH:D011556 NCIT:C129722 OMIM:612463 Orphanet:665 Orphanet:79445 SCTID:237659007 UMLS:C0033835 Albright Hereditary osteodystrophy with Multiple hormone Resistance Albright hereditary osteodystrophy-PPHP syndrome Normocalcemic pseudohypoparathyroidism Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous] aho-PPHP syndrome pseudopseudohypoparathyroidism Albright hereditary osteodystrophy without multiple hormone resistance PPHP Pseudopseudo-hypoparathyroidism pseudo-pseudohypoparathyroidism MONDO:0012912 pseudopseudohypoparathyroidism https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. MESH:C567292 NCIT:C122804 OMIM:612469 UMLS:C2675904 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome WAGR syndrome with obesity WAGRO Wagro syndrome chromosome 11P13-p12 deletion syndrome MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). DOID:0060484 GARD:0010514 MESH:C557674 OMIM:612780 Orphanet:199343 SCTID:721207002 UMLS:C2748572 EAST syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome sesame syndrome SESAMES epilepsy, ataxia, sensorineural deafness, and tubulopathy seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance MONDO:0013005 EAST syndrome ICD10:D58.8 OMIM:612922 Orphanet:93576 D-HUS with MCP/CD46 anomaly aHUS with MCP/CD46 anomaly atypical HUS with MCP/CD46 anomaly hemolytic uremic syndrome, atypical, susceptibility to, type 2 hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly AHUS, susceptibility to, 2 AHUS2 aHUS2 hemolytic uremic syndrome, atypical, susceptibility to, 2 susceptibility to atypical hemolytic uremic syndrome 2 MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly ICD10:D58.8 OMIM:612923 Orphanet:93580 D-HUS with I factor anomaly aHUS with I factor anomaly atypical HUS with I factor anomaly hemolytic uremic syndrome, atypical, susceptibility to, type 3 hemolytic-uremic syndrome without diarrhea with I factor anomaly AHUS3 aHUS, susceptibility to, 3 aHUS3 hemolytic uremic syndrome, atypical, susceptibility to, 3 susceptibility to atypical hemolytic uremic syndrome 3 MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly ICD10:D58.8 OMIM:612924 Orphanet:93578 D-HUS with B factor anomaly aHUS with B factor anomaly atypical HUS with B factor anomaly hemolytic uremic syndrome, atypical, susceptibility to, type 4 hemolytic-uremic syndrome without diarrhea with B factor anomaly AHUS4 aHUS, susceptibility to, 4 aHUS4 hemolytic uremic syndrome, atypical, susceptibility to, 4 susceptibility to atypical hemolytic uremic syndrome 4 MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly ICD10:D58.8 OMIM:612925 Orphanet:93575 D-HUS with C3 anomaly aHUS with C3 anomaly atypical HUS with C3 anomaly hemolytic uremic syndrome, atypical, susceptibility to, type 5 hemolytic-uremic syndrome without diarrhea with C3 anomaly AHUS5 Ahus, susceptibility to, 5 hemolytic uremic syndrome, atypical, susceptibility to, 5 susceptibility to atypical hemolytic uremic syndrome 5 MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly ICD10:D58.8 OMIM:612926 Orphanet:217023 D-HUS with thrombomodulin anomaly aHUS with thrombomodulin anomaly atypical HUS with thrombomodulin anomaly hemolytic uremic syndrome, atypical, susceptibility to, type 6 hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly AHUS6 Ahus, susceptibility to, 6 hemolytic uremic syndrome, atypical, susceptibility to, 6 susceptibility to atypical hemolytic uremic syndrome 6 MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. DOID:0110087 ICD10:Q77.2 NCIT:C163755 OMIM:613091 ATD3 SRPS1 SRPS2B SRPS3 SRTD3 Verma-Naumoff syndrome asphyxiating thoracic dystrophy 3 asphyxiating thoracic dystrophy type 3 polydactyly with neonatal chondrodystrophy, type I polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type I short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly Saldino-Noonan syndrome polydactyly with neonatal chondrodystrophy, type 1 polydactyly with neonatal chondrodystrophy, type 3 short rib-polydactyly syndrome, type 1 short rib-polydactyly syndrome, type 2B short rib-polydactyly syndrome, type 3 MONDO:0013127 asphyxiating thoracic dystrophy 3 Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS). MESH:C567760 OMIM:613092 Orphanet:217330 SCTID:721840000 ADTKD-REN FJHN type 2 REN familial juvenile hyperuricemic nephropathy REN-associated FJHN REN-associated familial juvenile hyperuricemic nephropathy REN-associated kidney disease autosomal dominant tubulointerstitial kidney disease due to mutations in REN familial juvenile hyperuricemic nephropathy caused by mutation in REN familial juvenile hyperuricemic nephropathy type 2 hyperuricemic nephropathy, familial juvenile, type 2 HNFJ2 REN-related autosomal dominant tubulointerstitial kidney disease early-onset hyperuricemia, Anemia, and progressive kidney failure hyperuricemic nephropathy, familial juvenile, 2 MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. DOID:0110859 NCIT:C123166 OMIM:613095 SCTID:253879006 UMLS:C2751306 APKD2 Autosomal dominant polycystic kidney disease type 2 PKD2 PKD2 autosomal dominant polycystic kidney disease autosomal dominant polycystic kidney disease caused by mutation in PKD2 polycystic kidney disease 2 polycystic kidney disease type 2 polycystic kidney disease, adult, type II polycystic kidney disease 2 with or without polycystic liver disease polycystic kidney disease, adult, type 2 MONDO:0013131 polycystic kidney disease 2 Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene. DOID:0111117 OMIM:613159 UMLS:C3150419 NPHPL1 XPNPEP3 nephronophthisis (disease) nephronophthisis (disease) caused by mutation in XPNPEP3 nephronophthisis-like nephropathy 1 nephronophthisis-like nephropathy type 1 MONDO:0013163 nephronophthisis-like nephropathy 1 Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene. DOID:0060584 GARD:0010701 MESH:C548084 OMIM:613224 UMLS:C2750732 NRAS Noonan syndrome NS6 Noonan syndrome 6 Noonan syndrome caused by mutation in NRAS Noonan syndrome type 6 NRAS gene related Noonan syndrome MONDO:0013186 Noonan syndrome 6 https://rarediseases.info.nih.gov/diseases/10701/noonan-syndrome-6 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene. DOID:0111130 ICD10:N04.1 MESH:C567687 OMIM:613237 UMLS:C2750475 FSGS5 INF2 focal segmental glomerulosclerosis focal segmental glomerulosclerosis 5 focal segmental glomerulosclerosis caused by mutation in INF2 focal segmental glomerulosclerosis type 5 glomerulosclerosis, focal segmental, 5 MONDO:0013191 focal segmental glomerulosclerosis 5 Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). DOID:0080325 GARD:0005381 NCIT:C75331 OMIM:613254 tuberous sclerosis 2 tuberous sclerosis type 2 TSC2 TSC2 Angiomyolipomas, renal, modifier of tuberous sclerosis, type 2 MONDO:0013199 tuberous sclerosis 2 Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. OMIM:613388 UMLS:C3150652 Fanconi renotubular syndrome 2 Fanconi renotubular syndrome type 2 Fanconi syndrome caused by mutation in SLC34A1 SLC34A1 Fanconi syndrome FRTS2 MONDO:0013247 Fanconi renotubular syndrome 2 Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene. DOID:0111096 OMIM:613390 UMLS:C3150653 FANCO Fanconi Anemia, complementation group type O Fanconi anemia caused by mutation in RAD51C Fanconi anemia caused by mutation in Rad51C Fanconi anemia complementation group type O RAD51C Fanconi anemia Rad51C Fanconi anemia Fanconi anemia, complementation group O MONDO:0013248 Fanconi anemia complementation group O Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene. DOID:0111354 OMIM:613404 UMLS:C3150672 VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome arthrogryposis, renal dysfunction, and cholestasis 2 arthrogryposis, renal dysfunction, and cholestasis type 2 arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39 ARCS2 MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). GARD:0004697 ICD10:K74.3 ICD10:L94.0 OMIM:613471 Orphanet:779 SCTID:715401008 UMLS:C0748397 Reynolds syndrome primary biliary cirrhosis and systemic scleroderma primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia MONDO:0013276 Reynolds syndrome https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. COHD:192275 DOID:13372 GARD:0005784 ICD10:E88.0 ICD10:E88.01 ICD9:273.4 MESH:D019896 MedDRA:10001806 NCIT:C84397 OMIM:613490 Orphanet:60 SCTID:30188007 UMLS:C0221757 A-1ATD A1AD AAT deficiency deficiency in Alpa-1-proteinase inhibitor A1AT deficiency A1ATD AATD ALPHA-1-antitrypsin deficiency Alpha 1 antitrypsin deficiency Alpha-1 antitrypsin deficiency alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. DOID:0111118 OMIM:613550 UMLS:C3150796 NPHP11 nephronophthisis 11 nephronophthisis type 11 MONDO:0013302 nephronophthisis 11 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene. OMIM:613610 UMLS:C3150874 Cranioectodermal dysplasia type 2 WDR35 cranioectodermal dysplasia cranioectodermal dysplasia 2 cranioectodermal dysplasia caused by mutation in WDR35 CED2 CRANIOECTODERMAL dysplasia 2 MONDO:0013323 cranioectodermal dysplasia 2 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. OMIM:613615 UMLS:C3150877 SDCCAG8 Senior-Loken syndrome Senior-Loken syndrome 7 Senior-Loken syndrome caused by mutation in SDCCAG8 Senior-Loken syndrome type 7 SENIOR-Loken syndrome 7 SLSN7 MONDO:0013326 Senior-Loken syndrome 7 Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis. DOID:0111672 GARD:0010738 ICD10:E74.8 NCIT:C123214 OMIM:613616 Orphanet:93600 SCTID:734990008 UMLS:C3150878 HOGA1 primary hyperoxaluria primary hyperoxaluria caused by mutation in HOGA1 primary hyperoxaluria type III HP3 PH III hyperoxaluria, primary, type 3 hyperoxaluria, primary, type III MONDO:0013327 primary hyperoxaluria type 3 https://rarediseases.info.nih.gov/diseases/10738/primary-hyperoxaluria-type-3 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. DOID:0060403 GARD:0005408 ICD10:Q85.0 MESH:C563524 OMIM:613675 Orphanet:97685 17q11 microdeletion syndrome Del(17)(q11) NF1 microdeletion syndrome Van Asperen syndrome monosomy 17q11 neurofibromatosis type 1 microdeletion syndrome NF1 microduplication syndrome chromosome 17q11.2 deletion syndrome chromosome 17q11.2 deletion syndrome, 1.4-MB neurofibromatosis 1 microdeletion syndrome MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene. ICD10:Q87.2 NCIT:C153291 OMIM:613684 Orphanet:353284 UMLS:C3150941 EP300 Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome caused by mutation in EP300 Rubinstein-Taybi syndrome type 2 RSTS2 Rubinstein-Taybi syndrome 2 MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene. DOID:0060585 OMIM:613706 UMLS:C3150970 BRAF Noonan syndrome NS7 Noonan syndrome 7 Noonan syndrome caused by mutation in BRAF Noonan syndrome type 7 MONDO:0013379 Noonan syndrome 7 An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. DOID:0110088 ICD10:Q77.2 OMIM:613819 UMLS:C3151185 ATD4 SRTD4 asphyxiating thoracic dystrophy 4 asphyxiating thoracic dystrophy type 4 short-rib thoracic dysplasia 4 with or without polydactyly MONDO:0013441 asphyxiating thoracic dystrophy 4 Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene. DOID:0111119 OMIM:613820 UMLS:C3151186 NPHP12 TTC21B nephronophthisis (disease) nephronophthisis (disease) caused by mutation in TTC21B nephronophthisis 12 nephronophthisis type 12 Joubert syndrome 11 MONDO:0013442 nephronophthisis 12 Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene. DOID:0111120 OMIM:613824 UMLS:C3151188 NEK8 nephronophthisis (disease) NPHP9 nephronophthisis (disease) caused by mutation in NEK8 nephronophthisis 9 nephronophthisis type 9 MONDO:0013444 nephronophthisis 9 ICD10:N15.8 OMIM:613845 Orphanet:363694 UMLS:C3151209 HUPRA syndrome HUPRAS Hupra syndrome hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome DOID:0060884 GARD:0012155 ICD10:E83.4 OMIM:613882 UMLS:C3151295 HOMG6 renal hypomagnesemia type 6 hypomagnesemia 6, renal renal hypomagnesemia-6 MONDO:0013480 renal hypomagnesemia 6 https://rarediseases.info.nih.gov/diseases/12155/renal-hypomagnesemia-6 Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. DOID:0070122 ICD10:Q61.9 OMIM:613885 UMLS:C3836857 MKS8 Meckel syndrome caused by mutation in TCTN2 Meckel syndrome, type 8 Meckel-Gruber syndrome, type 8 TCTN2 Meckel syndrome Meckel syndrome 8 MONDO:0013482 Meckel syndrome, type 8 OMIM:613944 IGAN2 IgA nephropathy, susceptibility to, 2 MONDO:0013496 IGAN2 Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene. DOID:0111092 OMIM:613951 FANCP Fanconi Anemia, complementation group type P Fanconi anemia caused by mutation in SLX4 Fanconi anemia caused by mutation in Slx4 Fanconi anemia complementation group type P SLX4 Fanconi anemia Slx4 Fanconi anemia Fanconi anemia, complementation group P MONDO:0013499 Fanconi anemia complementation group P Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia. DOID:0110031 ICD10:D56.0 ICD9:282.49 MedDRA:10063435 NCIT:C95504 OMIM:613978 Orphanet:93616 SCTID:48553001 UMLS:C3161174 Alpha-thalassemia intermedia HbH HbH disease alpha thalassemia, hemoglobin H type alpha-thalassemia intermedia hemoglobin H disease hemoglobin H disease, deletional Alpha-thalassemia, Hemoglobin H type HEMOGLOBIN H disease Hemoglobin H disease, Deletional Hemoglobin H disease, Nondeletional MONDO:0013512 hemoglobin H disease Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. OMIM:613985 SCDO:0000251 beta-thalassemia MONDO:0013517 beta-thalassemia HBB/LCRB Fanconi anemia caused by mutations of the FANCG gene. DOID:0111086 EFO:0009046 NCIT:C125708 OMIM:614082 FANCG Fanconi Anemia, complementation group type G Fanconi anemia complementation group type G Fanconi anemia, complementation group G MONDO:0013565 Fanconi anemia complementation group G Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene. DOID:0111082 OMIM:614083 FANCL FANCL Fanconi anemia Fanconi Anemia, complementation group type 50 Fanconi anemia caused by mutation in FANCL Fanconi anemia complementation group type L Fanconi Anemia, complementation Group 50 Fanconi anemia, complementation group L MONDO:0013566 Fanconi anemia complementation group L An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. DOID:0110090 ICD10:Q77.2 OMIM:614091 UMLS:C3279792 SRPS5 SRTD7 short rib-polydactyly syndrom type V short-rib thoracic dysplasia 7 with or without polydactyly short rib-polydactyly syndrome, type 5 MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. OMIM:614099 UMLS:C3279807 Cranioectodermal dysplasia type 3 IFT43 cranioectodermal dysplasia cranioectodermal dysplasia 3 cranioectodermal dysplasia caused by mutation in IFT43 CED3 CRANIOECTODERMAL dysplasia 3 MONDO:0013573 cranioectodermal dysplasia 3 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene. DOID:0111131 ICD10:N04.1 OMIM:614131 UMLS:C3279905 FSGS6 MYO1E focal segmental glomerulosclerosis focal segmental glomerulosclerosis 6 focal segmental glomerulosclerosis caused by mutation in MYO1E focal segmental glomerulosclerosis type 6 glomerulosclerosis, focal segmental, 6 MONDO:0013589 focal segmental glomerulosclerosis 6 Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. GTR:AN1012156 GTR:AN1012610 OMIM:614175 UMLS:C3280036 UMLS:CN620433 B9D2 Meckel syndrome Meckel syndrome caused by mutation in B9D2 Meckel syndrome, type 10 JBTS34 Joubert syndrome 34 MKS10 MONDO:0013609 Meckel syndrome, type 10 Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. DOID:0080384 OMIM:614196 UMLS:C3280100 PTPRO nephrotic syndrome nephrotic syndrome caused by mutation in PTPRO nephrotic syndrome, type 6 NPHS6 MONDO:0013619 nephrotic syndrome, type 6 LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. ICD10:N04.8 OMIM:614199 Orphanet:306507 UMLS:C3280113 NPHS5 nephrotic syndrome, type 5, with or without ocular abnormalities MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. OMIM:614209 UMLS:C3280155 B9D1 Meckel syndrome Meckel syndrome caused by mutation in B9D1 Meckel syndrome, type 9 MKS9 MONDO:0013630 Meckel syndrome, type 9 OMIM:614227 UMLS:C3280216 HNFJ3 hyperuricemic nephropathy, familial juvenile, 3 MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene. DOID:0110089 ICD10:Q77.2 OMIM:614376 UMLS:C3280598 ATD5 Jeune syndrome caused by mutation in WDR19 SRTD5 WDR19 Jeune syndrome asphyxiating thoracic dystrophy 5 asphyxiating thoracic dystrophy type 5 short-rib thoracic dysplasia 5 with or without polydactyly MONDO:0013717 asphyxiating thoracic dystrophy 5 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. DOID:0111121 OMIM:614377 UMLS:C3280612 NPHP13 nephronophthisis 13 nephronophthisis type 13 MONDO:0013718 nephronophthisis 13 OMIM:614378 UMLS:C3280616 cranioectodermal dysplasia 4 cranioectodermal dysplasia type 4 CED4 MONDO:0013719 cranioectodermal dysplasia 4 An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. autosomal SLE familial SLE familial systemic lupus erythematosus ICD10:M32.8 OMIM:614420 Orphanet:300345 UMLS:C3280742 SLEB16 systemic lupus erythematosus 16 systemic lupus erythematosus type 16 MONDO:0013743 Editor note: it is not clear what the ORDO class Orphanet:300345 should be equivalent to, see https://github.com/monarch-initiative/mondo/issues/1164 autosomal systemic lupus erythematosus type 16 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown. DOID:0110205 GARD:0012011 ICD10:G60.0 OMIM:614455 Orphanet:93114 SCTID:722294004 UMLS:C3280845 UMLS:C4302667 CMTDIE Charcot-Marie-Tooth disease dominant intermediate type E Charcot-Marie-Tooth disease, dominant Intermediate type E Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis autosomal dominant intermediate Charcot-Marie-Tooth disease type E Charcot-Marie-Tooth disease - nephropathy Charcot-Marie-Tooth disease, dominant intermediate E MONDO:0013758 Not in the OMIM series. Charcot-Marie-Tooth disease dominant intermediate E Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. ICD10:I15.1 MESH:C564161 OMIM:614491 Orphanet:88939 UMLS:C1840390 PHA2B WNK4 pseudohypoaldosteronism type 2 pseudohypoaldosteronism type 2 caused by mutation in WNK4 pseudohypoaldosteronism, type 2B pseudohypoaldosteronism, type IIB MONDO:0013777 pseudohypoaldosteronism type 2B Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. ICD10:I15.1 MESH:C564162 OMIM:614492 Orphanet:88940 UMLS:C1840391 PHA2C WNK1 pseudohypoaldosteronism type 2 pseudohypoaldosteronism type 2 caused by mutation in WNK1 pseudohypoaldosteronism, type 2C pseudohypoaldosteronism, type IIC MONDO:0013778 pseudohypoaldosteronism type 2C Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. ICD10:I15.1 OMIM:614495 Orphanet:300525 UMLS:C3469605 KLHL3 pseudohypoaldosteronism type 2 PHA2D pseudohypoaldosteronism type 2 caused by mutation in KLHL3 familial hyperkalemic hypertension pseudohypoaldosteronism, type 2D pseudohypoaldosteronism, type IID MONDO:0013781 pseudohypoaldosteronism type 2D Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. ICD10:I15.1 OMIM:614496 Orphanet:300530 UMLS:C3469606 CUL3 pseudohypoaldosteronism type 2 Cul3 pseudohypoaldosteronism type 2 PHA2E pseudohypoaldosteronism type 2 caused by mutation in CUL3 pseudohypoaldosteronism type 2 caused by mutation in Cul3 pseudohypoaldosteronism, type 2E pseudohypoaldosteronism, type IIE MONDO:0013782 pseudohypoaldosteronism type 2E Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. OMIM:614595 UMLS:C3281288 CORIN preeclampsia Corin preeclampsia Preeclampsia/eclampsia type 5 preeclampsia caused by mutation in CORIN preeclampsia caused by mutation in Corin preeclampsia/eclampsia 5 PEE5 PREECLAMPSIA/eclampsia 5 MONDO:0013817 preeclampsia/eclampsia 5 DOID:0070243 ICD10:N04.8 OMIM:614650 Orphanet:280406 UMLS:C3553349 coenzyme Q10 deficiency, primary, type 6 COQ10D6 coenzyme Q10 deficiency, primary, 6 MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. GARD:0009180 ICD10:N04.2 NCIT:C123060 OMIM:614692 Orphanet:97560 SCTID:722119002 UMLS:C0086445 Idiopathic membranous glomerulopathy membranous nephropathy - Idiopathic Extramembranous glomerulonephritis MBNP MGN glomerulonephritis, membranous idiopathic membranous nephropathy membranous GN membranous nephropathy, susceptibility to MONDO:0013860 idiopathic membranous glomerulonephritis Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. DOID:0060350 GARD:0000546 GARD:0010666 ICD10:E79.8 MESH:C538228 NCIT:C121564 OMIM:614723 Orphanet:976 SCTID:124274002 UMLS:C0268120 2,8-dihydroxyadenine urolithiasis 2,8-dihydroxyadeninuria disease APRT deficiency adenine phosphoribosyltransferase deficiency APRTD Dihydroxyadeninuria nephrolithiasis, Dha urolithiasis, 2,8-dihydroxyadenine urolithiasis, Dha MONDO:0013869 adenine phosphoribosyltransferase deficiency https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. OMIM:614748 Orphanet:306504 UMLS:C3553636 JEB with respiratory and renal involvement JEB-RR congenital ILNEB syndrome congenital NEP syndrome congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome ILNEB interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital junctional epidermolysis bullosa with respiratory and renal involvement MONDO:0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. ICD10:N00.5 NCIT:C123043 OMIM:614809 Orphanet:329931 UMLS:C3553720 UMLS:C4055342 UMLS:CN187045 complement-mediated membranoproliferative glomerulonephritis CFHR5 deficiency MONDO:0013892 C3 glomerulonephritis Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene. DOID:0060911 GARD:0011003 ICD10:N11.8 OMIM:614817 Orphanet:401996 UMLS:C3553774 FAN1 interstitial nephritis KMIN interstitial nephritis caused by mutation in FAN1 kin systemic karyomegaly interstitial nephritis, karyomegalic MONDO:0013898 karyomegalic interstitial nephritis https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene. DOID:0111122 OMIM:614844 UMLS:C3539071 NPHP14 ZNF423 nephronophthisis (disease) nephronophthisis (disease) caused by mutation in ZNF423 nephronophthisis 14 nephronophthisis type 14 Joubert syndrome 19 MONDO:0013916 nephronophthisis 14 Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene. DOID:0111123 OMIM:614845 UMLS:C3541853 CEP164 nephronophthisis (disease) NPHP15 nephronophthisis (disease) caused by mutation in CEP164 nephronophthisis 15 nephronophthisis type 15 MONDO:0013917 nephronophthisis 15 DOID:0080478 MESH:C566633 NCIT:C155752 OMIM:614859 UMLS:C3553929 peroxisome biogenesis disorder 3A (Zellweger) PBD3A peroxisome biogenesis disorder, complementation group 3 MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) DOID:0080479 MESH:C563301 NCIT:C155754 OMIM:614862 UMLS:C3553936 peroxisome biogenesis disorder 4A (Zellweger) PBD4A peroxisome biogenesis disorder, complementation group 4 peroxisome biogenesis disorder, complementation group 6 peroxisome biogenesis disorder, complementation group C MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) DOID:0080480 NCIT:C155756 OMIM:614866 UMLS:C3553940 peroxisome biogenesis disorder 5A (Zellweger) PBD5A peroxisome biogenesis disorder, complementation group 10 peroxisome biogenesis disorder, complementation group 5 peroxisome biogenesis disorder, complementation group F MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) DOID:0080481 MESH:C566422 NCIT:C155758 OMIM:614870 UMLS:C3553947 peroxisome biogenesis disorder 6A (Zellweger) PBD6A peroxisome biogenesis disorder, complementation group 7 peroxisome biogenesis disorder, complementation group B MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) DOID:0080482 OMIM:614872 UMLS:C3888385 peroxisome biogenesis disorder 7A (Zellweger) PBD7A peroxisome biogenesis disorder, complementation group 8 peroxisome biogenesis disorder, complementation group A MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) DOID:0080483 OMIM:614876 UMLS:C3553959 peroxisome biogenesis disorder 8A (Zellweger) PBD8A peroxisome biogenesis disorder, complementation group 9 peroxisome biogenesis disorder, complementation group D MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) OMIM:614879 UMLS:CN159238 peroxisome biogenesis disorder 9B peroxisome biogenesis disorder type 9B PBD9B Refsum disease, adult, 2 peroxisome biogenesis disorder, PEX7-related, atypical peroxisome biogenesis disorder, complementation group 11 peroxisome biogenesis disorder, complementation group R MONDO:0013945 peroxisome biogenesis disorder 9B DOID:0080484 OMIM:614882 UMLS:C3553999 peroxisome biogenesis disorder 10A (Zellweger) PBD10A peroxisome biogenesis disorder, complementation group 12 peroxisome biogenesis disorder, complementation group G MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) DOID:0080485 OMIM:614883 UMLS:C3554000 peroxisome biogenesis disorder 11A (Zellweger) PBD11A peroxisome biogenesis disorder, complementation group 13 peroxisome biogenesis disorder, complementation group H MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) DOID:0080486 OMIM:614886 UMLS:C3554002 peroxisome biogenesis disorder 12A (Zellweger) Cg14 Cgj PBD12A peroxisome biogenesis disorder, complementation group 14 peroxisome biogenesis disorder, complementation group J MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) DOID:0080487 MESH:C566624 OMIM:614887 UMLS:C3554004 peroxisome biogenesis disorder 13A (Zellweger) PBD13A peroxisome biogenesis disorder, complementation group K MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. ICD10:N00.5 NCIT:C123055 OMIM:615008 Orphanet:329903 Ig-mediated MPGN Ig-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated MPGN Mesangiocapillary glomerulonephritis type 1 immune Complex mediated membranoproliferative glomerulonephritis membranoproliferative glomerulonephritis type I Ahus, susceptibility to, 7 NPHS7 hemolytic uremic syndrome, atypical, susceptibility to, 7 nephrotic syndrome, type 7 nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene. OMIM:615112 UMLS:C3554520 LRIG2 Ochoa syndrome Ochoa syndrome caused by mutation in LRIG2 urofacial syndrome 2 urofacial syndrome type 2 UFS2 MONDO:0014049 urofacial syndrome 2 Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. DOID:0080389 OMIM:615244 UMLS:C3808953 ARHGDIA nephrotic syndrome nephrotic syndrome caused by mutation in ARHGDIA nephrotic syndrome, type 8 NPHS8 MONDO:0014099 nephrotic syndrome, type 8 Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene. DOID:0111093 OMIM:615272 UMLS:C3808988 ERCC4 Fanconi anemia FANCQ Fanconi Anemia, complementation group type Q Fanconi anemia caused by mutation in ERCC4 Fanconi anemia complementation group type Q Fanconi anemia, complementation group Q MONDO:0014108 Fanconi anemia complementation group Q Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. OMIM:615342 UMLS:C3888002 SMAD9 primary pulmonary hypertension primary pulmonary hypertension caused by mutation in SMAD9 pulmonary hypertension, primary, 2 pulmonary hypertension, primary, type 2 PPH2 MONDO:0014134 pulmonary hypertension, primary, 2 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. OMIM:615343 UMLS:C3809192 CAV1 primary pulmonary hypertension primary pulmonary hypertension caused by mutation in CAV1 pulmonary hypertension, primary, 3 pulmonary hypertension, primary, type 3 PPH3 MONDO:0014135 pulmonary hypertension, primary, 3 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. OMIM:615344 UMLS:C3809198 KCNK3 primary pulmonary hypertension primary pulmonary hypertension caused by mutation in KCNK3 pulmonary hypertension, primary, 4 pulmonary hypertension, primary, type 4 PPH4 MONDO:0014136 pulmonary hypertension, primary, 4 Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene. DOID:0060586 OMIM:615355 UMLS:C3809233 NS8 Noonan syndrome 8 Noonan syndrome caused by mutation in RIT1 Noonan syndrome type 8 RIT1 Noonan syndrome MONDO:0014143 Noonan syndrome 8 Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene. DOID:0111124 ICD10:Q61.5 OMIM:615382 SCTID:444558002 UMLS:C3809320 ANKS6 nephronophthisis (disease) NPHP16 autosomal recessive infantile NPHP autosomal recessive infantile nephronophthisis nephronophthisis (disease) caused by mutation in ANKS6 nephronophthisis 16 nephronophthisis type 16 infantile nephronophthisis MONDO:0014158 nephronophthisis 16 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. OMIM:615397 UMLS:C3809352 Meckel syndrome caused by mutation in TMEM231 Meckel syndrome, type 11 TMEM231 Meckel syndrome MKS11 MONDO:0014164 Meckel syndrome, type 11 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. OMIM:615399 UMLS:C3809369 PIGT paroxysmal nocturnal hemoglobinuria paroxysmal nocturnal hemoglobinuria 2 paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT paroxysmal nocturnal hemoglobinuria type 2 PNH2 MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. OMIM:615415 UMLS:C3809434 NEK8 renal-hepatic-pancreatic dysplasia renal-hepatic-pancreatic dysplasia 2 renal-hepatic-pancreatic dysplasia caused by mutation in NEK8 renal-hepatic-pancreatic dysplasia type 2 RHPD2 MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. DOID:0110094 ICD10:Q77.2 OMIM:615503 UMLS:C3809691 SRPS6 SRTD8 short rib-polydactyly syndrome type VI short-rib thoracic dysplasia 8 with or without polydactyly short rib-polydactyly syndrome, type 6 MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. OMIM:615539 UMLS:C3809845 DSE Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, musculocontractural type 2 Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE EDSMC2 Ehlers-Danlos syndrome, musculocontractural type, 2 MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. DOID:0080391 OMIM:615573 UMLS:C3809965 COQ8B nephrotic syndrome nephrotic syndrome caused by mutation in COQ8B nephrotic syndrome, type 9 NPHS9 MONDO:0014257 nephrotic syndrome, type 9 GARD:0012814 OMIM:615583 Orphanet:508488 UMLS:C3810023 Verheij syndrome VRJS chromosome 8Q24.3 deletion syndrome MONDO:0014263 8q24.3 microdeletion syndrome Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. OMIM:615605 UMLS:C3810100 EHHADH Fanconi syndrome Fanconi renotubular syndrome 3 Fanconi renotubular syndrome type 3 Fanconi syndrome caused by mutation in EHHADH FRTS3 MONDO:0014275 Fanconi renotubular syndrome 3 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. DOID:0110091 ICD10:Q77.2 ICD10:Q87.5 OMIM:615630 UMLS:C3810175 SRTD10 short-rib thoracic dysplasia 10 with or without polydactyly MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. DOID:0110095 ICD10:Q77.2 OMIM:615633 UMLS:C3810200 SRTD11 short-rib thoracic dysplasia 11 with or without polydactyly MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. OMIM:615721 UMLS:C3810359 FGF20 renal agenesis (disease) renal agenesis (disease) caused by mutation in FGF20 renal hypodysplasia/aplasia 2 renal hypodysplasia/aplasia type 2 RHDA2 MONDO:0014319 renal hypodysplasia/aplasia 2 Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. DOID:0080386 OMIM:615861 UMLS:C4014507 EMP2 nephrotic syndrome nephrotic syndrome caused by mutation in EMP2 nephrotic syndrome, type 10 NPHS10 MONDO:0014373 nephrotic syndrome, type 10 Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene. DOID:0111125 OMIM:615862 UMLS:C3890591 CEP83 nephronophthisis (disease) NPHP18 nephronophthisis (disease) caused by mutation in CEP83 nephronophthisis 18 nephronophthisis type 18 MONDO:0014374 nephronophthisis 18 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene. DOID:0110124 GARD:0000821 ICD10:Q87.89 MESH:C537910 OMIM:615981 UMLS:C2936863 BBS2 BBS2 Bardet-Biedl syndrome Bardet-Biedl syndrome 2 Bardet-Biedl syndrome caused by mutation in BBS2 Bardet-Biedl syndrome type 2 BBS Bardet-Biedl syndrome MONDO:0014432 Bardet-Biedl syndrome 2 DOID:0110126 EFO:0009024 GARD:0000823 ICD10:Q87.89 MESH:C537912 OMIM:615982 UMLS:C2936864 BBS4 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome type 4 MONDO:0014433 Bardet-Biedl syndrome 4 https://rarediseases.info.nih.gov/diseases/823/bardet-biedl-syndrome-4 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene. DOID:0110127 EFO:0009025 GARD:0010204 ICD10:Q87.89 OMIM:615983 UMLS:C3892039 BBS5 BBS5 Bardet-Biedl syndrome Bardet-Biedl syndrome 5 Bardet-Biedl syndrome caused by mutation in BBS5 Bardet-Biedl syndrome type 5 MONDO:0014434 Bardet-Biedl syndrome 5 https://rarediseases.info.nih.gov/diseases/10204/bardet-biedl-syndrome-5 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene. DOID:0110129 EFO:0009026 GARD:0010206 ICD10:Q87.89 MESH:C565916 OMIM:615984 UMLS:C1859565 BBS7 BBS7 Bardet-Biedl syndrome Bardet-Biedl syndrome 7 Bardet-Biedl syndrome caused by mutation in BBS7 Bardet-Biedl syndrome type 7 MONDO:0014435 Bardet-Biedl syndrome 7 https://rarediseases.info.nih.gov/diseases/10206/bardet-biedl-syndrome-7 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene. DOID:0110130 GARD:0010207 ICD10:Q87.89 MESH:C565917 OMIM:615985 UMLS:C1859566 BBS8 Bardet-Biedl syndrome 8 Bardet-Biedl syndrome caused by mutation in TTC8 Bardet-Biedl syndrome type 8 TTC8 Bardet-Biedl syndrome MONDO:0014436 Bardet-Biedl syndrome 8 https://rarediseases.info.nih.gov/diseases/10207/bardet-biedl-syndrome-8 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene. DOID:0110131 EFO:0009027 GARD:0010208 ICD10:Q87.89 MESH:C565918 OMIM:615986 UMLS:C1859567 BBS9 BBS9 Bardet-Biedl syndrome Bardet-Biedl syndrome 9 Bardet-Biedl syndrome caused by mutation in BBS9 Bardet-Biedl syndrome type 9 MONDO:0014437 Bardet-Biedl syndrome 9 https://rarediseases.info.nih.gov/diseases/10208/bardet-biedl-syndrome-9 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene. DOID:0110132 EFO:0009022 GARD:0010209 ICD10:Q87.89 MESH:C565919 OMIM:615987 UMLS:C1859568 BBS10 BBS10 Bardet-Biedl syndrome Bardet-Biedl syndrome 10 Bardet-Biedl syndrome caused by mutation in BBS10 Bardet-Biedl syndrome type 10 MONDO:0014438 Bardet-Biedl syndrome 10 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene. DOID:0110133 GARD:0010210 ICD10:Q87.89 MESH:C565920 OMIM:615988 UMLS:C1859569 BBS11 Bardet-Biedl syndrome 11 Bardet-Biedl syndrome caused by mutation in TRIM32 Bardet-Biedl syndrome type 11 TRIM32 Bardet-Biedl syndrome MONDO:0014439 Bardet-Biedl syndrome 11 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene. DOID:0110134 EFO:0009023 GARD:0010211 ICD10:Q87.89 MESH:C565921 OMIM:615989 UMLS:C1859570 BBS12 BBS12 Bardet-Biedl syndrome Bardet-Biedl syndrome 12 Bardet-Biedl syndrome caused by mutation in BBS12 Bardet-Biedl syndrome type 12 MONDO:0014440 Bardet-Biedl syndrome 12 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene. DOID:0110135 ICD10:Q87.89 MESH:C567140 OMIM:615990 UMLS:C2673873 BBS13 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome caused by mutation in MKS1 Bardet-Biedl syndrome type 13 MKS1 Bardet-Biedl syndrome MONDO:0014441 Bardet-Biedl syndrome 13 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. DOID:0110136 ICD10:Q87.89 MESH:C567141 OMIM:615991 UMLS:C2673874 BBS14 Bardet-Biedl syndrome 14 Bardet-Biedl syndrome type 14 MONDO:0014442 Bardet-Biedl syndrome 14 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene. DOID:0110137 ICD10:Q87.89 OMIM:615992 UMLS:C3150127 BBS15 Bardet-Biedl syndrome 15 Bardet-Biedl syndrome caused by mutation in WDPCP Bardet-Biedl syndrome type 15 WDPCP Bardet-Biedl syndrome MONDO:0014443 Bardet-Biedl syndrome 15 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. DOID:0110138 ICD10:Q87.89 OMIM:615993 UMLS:C3889474 BBS16 Bardet-Biedl syndrome 16 Bardet-Biedl syndrome caused by mutation in SDCCAG8 Bardet-Biedl syndrome type 16 SDCCAG8 Bardet-Biedl syndrome MONDO:0014444 Bardet-Biedl syndrome 16 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene. DOID:0110139 ICD10:Q87.89 OMIM:615994 UMLS:C3714980 BBS17 Bardet-Biedl syndrome 17 Bardet-Biedl syndrome caused by mutation in LZTFL1 Bardet-Biedl syndrome type 17 LZTFL1 Bardet-Biedl syndrome MONDO:0014445 Bardet-Biedl syndrome 17 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene. DOID:0110140 ICD10:Q87.89 OMIM:615995 UMLS:C3806174 BBIP1 Bardet-Biedl syndrome BBS18 Bardet-Biedl syndrome 18 Bardet-Biedl syndrome caused by mutation in BBIP1 Bardet-Biedl syndrome type 18 MONDO:0014446 Bardet-Biedl syndrome 18 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene. DOID:0110141 ICD10:Q87.89 OMIM:615996 UMLS:C3889475 BBS19 Bardet-Biedl syndrome 19 Bardet-Biedl syndrome caused by mutation in IFT27 Bardet-Biedl syndrome type 19 IFT27 Bardet-Biedl syndrome MONDO:0014447 Bardet-Biedl syndrome 19 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene. DOID:0111132 ICD10:N04.1 OMIM:616002 UMLS:C4014925 FSGS7 PAX2 focal segmental glomerulosclerosis focal segmental glomerulosclerosis 7 focal segmental glomerulosclerosis caused by mutation in PAX2 focal segmental glomerulosclerosis type 7 glomerulosclerosis, focal segmental, 7 MONDO:0014451 focal segmental glomerulosclerosis 7 Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. OMIM:616026 UMLS:C4014962 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Fanconi syndrome caused by mutation in HNF4A HNF4A Fanconi syndrome FRTS4 FRTS4 with MODY MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene. DOID:0111133 ICD10:N04.1 OMIM:616032 UMLS:C4014993 ANLN focal segmental glomerulosclerosis FSGS8 focal segmental glomerulosclerosis 8 focal segmental glomerulosclerosis caused by mutation in ANLN focal segmental glomerulosclerosis type 8 glomerulosclerosis, focal segmental, 8 MONDO:0014462 focal segmental glomerulosclerosis 8 Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene. DOID:0111126 OMIM:616217 UMLS:C4015542 DCDC2 nephronophthisis (disease) NPHP19 nephronophthisis (disease) caused by mutation in DCDC2 nephronophthisis 19 nephronophthisis type 19 MONDO:0014537 nephronophthisis 19 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene. DOID:0111134 ICD10:N04.1 OMIM:616220 UMLS:C4015555 CRB2 focal segmental glomerulosclerosis FSGS9 focal segmental glomerulosclerosis 9 focal segmental glomerulosclerosis caused by mutation in CRB2 focal segmental glomerulosclerosis type 9 glomerulosclerosis, focal segmental, 9 MONDO:0014539 focal segmental glomerulosclerosis 9 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. OMIM:616258 Orphanet:439897 UMLS:C4015701 Meckel syndrome type 12 MKS12 Meckel syndrome 12 MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. DOID:0110093 ICD10:Q77.2 OMIM:616300 UMLS:C4225378 SRTD13 short-rib thoracic dysplasia 13 with or without polydactyly MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. OMIM:616307 UMLS:C4225376 Senior-Loken syndrome 8 Senior-Loken syndrome caused by mutation in WDR19 Senior-Loken syndrome type 8 WDR19 Senior-Loken syndrome SENIOR-Loken syndrome 8 SLSN8 MONDO:0014579 Senior-Loken syndrome 8 ICD10:J84.8 OMIM:616414 Orphanet:444092 UMLS:C4225334 copa defect copa syndrome AILJK autoimmune interstitial lung, joint, and kidney disease MONDO:0014629 Editor note: check relationship to RA-ILD autoimmune interstitial lung disease-arthritis syndrome OMIMPS:616418 UMLS:C4225333 hypomagnesemia, seizures, and intellectual disability hypomagnesemia, seizures, and mental retardation HOMGSMR MONDO:0014631 hypomagnesemia, seizures, and intellectual disability Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene. DOID:0111081 OMIM:616435 UMLS:C4084840 FANCT Fanconi Anemia, complementation group type T Fanconi anemia caused by mutation in UBE2T Fanconi anemia complementation group type T UBE2T Fanconi anemia Fanconi anemia, complementation group T MONDO:0014638 Fanconi anemia complementation group T An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. DOID:0110096 ICD10:Q04.3 OMIM:616546 UMLS:C4225286 SRTD14 short-rib thoracic dysplasia 14 with polydactyly MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene. DOID:0060587 OMIM:616559 UMLS:C4225282 NS9 Noonan syndrome 9 Noonan syndrome caused by mutation in SOS2 Noonan syndrome type 9 SOS2 Noonan syndrome MONDO:0014691 Noonan syndrome 9 Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene. DOID:0110401 ICD10:H35.5 OMIM:616562 UMLS:C4225281 BBS2 retinitis pigmentosa RP74 retinitis pigmentosa 74 retinitis pigmentosa caused by mutation in BBS2 retinitis pigmentosa type 74 MONDO:0014692 retinitis pigmentosa 74 Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene. DOID:0060588 OMIM:616564 UMLS:C4225280 LZTR1 Noonan syndrome NS10 Noonan syndrome 10 Noonan syndrome caused by mutation in LZTR1 Noonan syndrome type 10 MONDO:0014693 Noonan syndrome 10 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. OMIM:616629 UMLS:C4225263 SLSN9 Senior-Loken syndrome 9 Senior-Loken syndrome 9; SLSN9 Senior-Loken syndrome caused by mutation in TRAF3IP1 Senior-Loken syndrome type 9 TRAF3IP1 Senior-Loken syndrome MONDO:0014712 Senior-Loken syndrome 9 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. DOID:0080385 OMIM:616730 UMLS:C4225228 NPHS11 NUP107 familial nephrotic syndrome Nup107 familial nephrotic syndrome familial nephrotic syndrome caused by mutation in NUP107 familial nephrotic syndrome caused by mutation in Nup107 nephrotic syndrome, type 11 nephrotic syndrome, type 11; NPHS11 MONDO:0014752 nephrotic syndrome, type 11 Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. OMIM:616806 WT6 Wilms tumor 6 Wilms tumor 6; WT6 Wilms tumor type 6 MONDO:0014779 Wilms tumor 6 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. DOID:0080387 OMIM:616892 UMLS:C4225166 NPHS12 NUP93 familial nephrotic syndrome familial nephrotic syndrome caused by mutation in NUP93 nephrotic syndrome, type 12 nephrotic syndrome, type 12; NPHS12 MONDO:0014817 nephrotic syndrome, type 12 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. DOID:0080381 OMIM:616893 UMLS:C4225165 NPHS13 NUP205 familial nephrotic syndrome familial nephrotic syndrome caused by mutation in NUP205 nephrotic syndrome, type 13 nephrotic syndrome, type 13; NPHS13 MONDO:0014818 nephrotic syndrome, type 13 Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene. OMIM:616963 UMLS:C4310473 UMLS:CN262351 UMLS:CN774236 UMLS:CN847585 HCINF2 SLC34A1 autosomal recessive infantile hypercalcemia autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1 hypercalcemia, infantile, 2 hypercalcemia, infantile, type 2 MONDO:0014851 hypercalcemia, infantile 2 Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. OMIM:617056 UMLS:C4310741 ADTKD-SEC61A1 HNFJ4 SEC61A1 familial juvenile hyperuricemic nephropathy SEC61A1-related autosomal dominant tubulointerstitial kidney disease familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1 hyperuricemic nephropathy, familial juvenile, 4 hyperuricemic nephropathy, familial juvenile, type 4 hyperuricemic NEPHROPATHY, familial juvenile, 4 MONDO:0014891 hyperuricemic nephropathy, familial juvenile type 4 OMIM:617088 UMLS:C4310724 SRTD15 short-rib thoracic dysplasia 15 with polydactyly short-rib thoracic dysplasia 15 with polydactyly; SRTD15 MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly OMIM:617102 UMLS:C4310718 SRTD16 short-rib thoracic dysplasia 16 with or without polydactyly short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16 MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly OMIM:617107 Orphanet:500095 UMLS:C4310715 TROFAS Thauvin-robinet-Faivre syndrome THAUVIN-robinet-Faivre syndrome MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. OMIM:617119 UMLS:C4310707 BBS20 Bardet-Biedl syndrome 20 Bardet-Biedl syndrome 20; BBS20 Bardet-Biedl syndrome caused by mutation in IFT74 Bardet-Biedl syndrome type 20 IFT74 Bardet-Biedl syndrome MONDO:0014926 Bardet-Biedl syndrome 20 Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene. DOID:0111080 OMIM:617243 UMLS:C4310652 FANCV Fanconi Anemia, complementation group V Fanconi Anemia, complementation group type V Fanconi anemia caused by mutation in MAD2L2 Fanconi anemia complementation group type V MAD2L2 Fanconi anemia Fanconi Anemia, complementation Group 5 Fanconi anemia, complementation GROUP V MONDO:0014985 Fanconi anemia complementation group V Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene. DOID:0111090 OMIM:617244 UMLS:C4284093 FANCR Fanconi Anemia, complementation group R Fanconi Anemia, complementation group type R Fanconi anemia caused by mutation in RAD51 Fanconi anemia complementation group type R RAD51 Fanconi anemia Fanconi anemia, complementation GROUP R MONDO:0014986 Fanconi anemia complementation group r Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene. DOID:0111085 OMIM:617247 UMLS:C4310651 FANCU Fanconi Anemia, complementation group U Fanconi Anemia, complementation group type U Fanconi anemia caused by mutation in XRCC2 Fanconi anemia complementation group type U XRCC2 Fanconi anemia Fanconi anemia, complementation GROUP U MONDO:0014987 Fanconi anemia complementation group U Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene. DOID:0111127 OMIM:617271 UMLS:C4310640 MAPKBP1 nephronophthisis (disease) NPHP20 nephronophthisis (disease) caused by mutation in MAPKBP1 nephronophthisis 20 nephronophthisis type 20 MONDO:0014997 nephronophthisis 20 A benign or malignant neoplasm affecting the thyroid gland. MONDO:0021217 EFO:0003841 ICD9:239.7 NCIT:C3414 ONCOTREE:THYROID Orphanet:100087 SCTID:127018007 neoplasm of the thyroid neoplasm of the thyroid gland neoplasm of thyroid neoplasm of thyroid gland thyroid gland neoplasm thyroid gland neoplasm (disease) thyroid gland tumor thyroid neoplasm thyroid neoplasms thyroid tumor tumor of the thyroid tumor of the thyroid gland tumor of thyroid tumor of thyroid gland THYROID MONDO:0015074 Editor note: TODO thyroid tumor A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. DOID:3963 EFO:1000586 HP:0002890 MedDRA:10007476 NCIT:C4815 Orphanet:100088 SCTID:448216007 UMLS:C0549473 cancer of the thyroid cancer of thyroid carcinoma of the thyroid carcinoma of the thyroid gland carcinoma of thyroid carcinoma of thyroid gland head and neck cancer, thyroid thyroid cancer thyroid carcinoma thyroid gland cancer thyroid gland carcinoma thyroid cancer, NOS MONDO:0015075 thyroid gland carcinoma Orphanet:100091 UMLS:CN197370 MONDO:0015077 Editor note: consider merging adrenal/paraganglial tumor ICD10:D44.8 Orphanet:100094 UMLS:CN197373 MONDO:0015079 Editor note: ORDO classifies as inherited but there are non-inherited forms such as Carney triad multiple polyglandular tumor Autosomal dominant form of complex hereditary spastic paraplegia. ICD10:G11.4 Orphanet:100979 UMLS:CN226593 autosomal dominant complex HSP autosomal dominant complex SPG autosomal dominant complex hereditary spastic paraplegia autosomal dominant complicated HSP autosomal dominant complicated SPG autosomal dominant complicated spastic paraplegia complex hereditary spastic paraplegia, autosomal dominant MONDO:0015087 autosomal dominant complex spastic paraplegia ICD10:E31.0 ICD10:E31.1 ICD10:E31.8 ICD10:E31.9 Orphanet:101956 MONDO:0015126 polyendocrinopathy ICD10:E23.0 Orphanet:101957 MONDO:0015127 Editor note: in ORDO, Orphanet:101957 is classified as genetic, yet has acquired subtypes pituitary deficiency Orphanet:101985 MONDO:0015133 Editor note: check how relates to phagocytosis terms quantitative and/or qualitative congenital phagocyte defect A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood. COHD:434895 ICD10:D70 NCIT:C61242 Orphanet:101987 Kostmann disease Kostmann neutropenia Kostmann syndrome congenital neutropenia genetic infantile agranulocytosis infantile genetic agranulocytosis MONDO:0015134 constitutional neutropenia Orphanet:101988 primary immunodeficiency due to a defect in innate immunity MONDO:0015135 primary immunodeficiency due to a genetic defect in innate immunity ICD10:D84.1 Orphanet:101992 immunodeficiency due to a complement cascade protein anomaly MONDO:0015136 Editor note: consider merge, see https://docs.google.com/document/d/1wNW8wypaeo7fuBVfeplkD4RQ9-kuEQl0O9U5PdLintE/edit# immunodeficiency due to a genetic complement cascade protein anomaly Fevers of unknown etiology recurring over months or years. ICD10:E85.0 MedDRA:10034533 NCIT:C118240 Orphanet:101995 UMLS:C0015974 UMLS:C3889979 MONDO:0015137 periodic fever syndrome An inflammatory disease involving a pathogenic inflammatory response in the brain. Orphanet:102005 UMLS:CN197488 brain inflammation inflammation of brain MONDO:0015144 brain inflammatory disease A hereditary spastic paraplegia that is part of a larger syndrome. ICD10:G11.4 Orphanet:102013 SCTID:230261006 UMLS:C0393556 UMLS:CN197491 Complex HSP Complex SPG Complex familial spastic paraplegia complicated HSP complicated SPG complicated familial spastic paraplegia complicated hereditary spastic paraplegia syndrome associated with hereditary spastic paraplegia syndromic hereditary spastic paraplegia MONDO:0015150 complex hereditary spastic paraplegia ICD10:Q93.0 ICD10:Q93.1 ICD10:Q93.2 ICD10:Q93.3 ICD10:Q93.4 ICD10:Q93.5 ICD10:Q93.6 ICD10:Q93.7 ICD10:Q93.8 ICD10:Q93.9 Orphanet:102020 autosomal deletion MONDO:0015153 autosomal monosomy Orphanet:102283 UMLS:CN228396 MCA/MR multiple congenital anomalies-intellectual disability with or without dysmorphism MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability Orphanet:102284 MCA/variable MR multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome MONDO:0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome Orphanet:102285 MCA without intellectual disability multiple congenital anomalies without intellectual disability with or without dysmorphism MONDO:0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability Orphanet:102373 UMLS:CN197503 MONDO:0015163 primary glomerular disease Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. GARD:0000777 ICD10:Q74.3 MedDRA:10051643 OMIMPS:617468 Orphanet:1037 AMC Arthromyodysplasia congenita amyoplasia congenita congenital amyoplasia congenital arthromyodysplasia multiple congenital arthrogryposis myodysplasia Guerin-Stern syndrome Guérin-Stern syndrome Otto syndrome Rossi syndrome fibrous ankylosis of multiple joints myodystrophia fetalis deformans rocher-Sheldon syndrome MONDO:0015168 arthrogryposis multiplex congenita Orphanet:104003 MONDO:0015178 congenital intestinal transport defect Orphanet:104004 UMLS:CN197521 MONDO:0015179 Editor note: groups different mechanisms: intestinal disease due to vitamin absorption anomaly A metabolic disease that involves the intestine. Orphanet:104013 UMLS:CN197528 intestine metabolic disease metabolic disease of intestine MONDO:0015188 metabolic disease with intestinal involvement Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). GARD:0002301 GARD:0002783 HP:0001789 ICD10:P56.0 ICD10:P56.9 ICD10:P83.2 MedDRA:10020529 NCIT:C84767 Orphanet:1041 SCTID:276508000 UMLS:C0020305 HF fetal anasarca fetal hydrops generalized fetal edema hydrops fetalis familial non-immune hydrops fetalis fetal edema hydrops fetalis nonimmune idiopathic hydrops fetalis MONDO:0015193 hydrops fetalis (disease) Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. HP:0000068 ICD10:Q64.3 MedDRA:10064895 Orphanet:105 SCTID:253902002 atresia of urethra urethral atresia MONDO:0015195 atresia of urethra (disease) A esophageal malformation that is part of a larger syndrome. Orphanet:108961 UMLS:CN226625 syndrome associated with esophageal malformation syndromic esophageal malformation MONDO:0015208 syndromic esophageal malformation A intestinal malformation that is part of a larger syndrome. Orphanet:108969 UMLS:CN226629 syndrome associated with intestinal malformation syndromic intestinal malformation MONDO:0015212 syndromic intestinal malformation Orphanet:108973 UMLS:CN226631 MONDO:0015214 syndromic visceral malformation A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. Orphanet:108977 isolated diaphragmatic or abdominal wall malformation nonsyndromic diaphragmatic or abdominal wall malformation MONDO:0015215 non-syndromic diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is part of a larger syndrome. Orphanet:108979 UMLS:CN226633 syndrome associated with diaphragmatic or abdominal wall malformation syndromic diaphragmatic or abdominal wall malformation MONDO:0015216 syndromic diaphragmatic or abdominal wall malformation A developmental defect of the eye that is not part of a larger syndrome. Orphanet:108985 isolated developmental defect of the eye nonsyndromic developmental defect of the eye MONDO:0015217 non-syndromic developmental defect of the eye A developmental defect of the eye that is part of a larger syndrome. Orphanet:108987 UMLS:CN226635 syndrome associated with developmental defect of the eye syndromic developmental defect of the eye MONDO:0015218 syndromic developmental defect of the eye A central nervous system malformation that is not part of a larger syndrome. Orphanet:108989 isolated central nervous system malformation nonsyndromic central nervous system malformation MONDO:0015219 Editor note: ORDO has various potentially syndromic disease groupings under here, we modify these. See https://github.com/monarch-initiative/mondo-build/issues/58 non-syndromic central nervous system malformation Orphanet:108991 UMLS:CN197562 MONDO:0015220 syndrome with a central nervous system malformation as major feature ICD10:Q68.8 Orphanet:109007 MONDO:0015225 arthrogryposis syndrome ICD10:Q87.2 Orphanet:109009 UMLS:CN197565 MONDO:0015226 syndrome with limb malformations as a major feature https://github.com/monarch-initiative/mondo/projects/6 Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems DOID:1935 GARD:0006866 ICD10:Q87.8 ICD10:Q87.89 ICD9:759.89 MESH:D020788 MedDRA:10056715 NCIT:C118632 OMIMPS:209900 Orphanet:110 SCTID:5619004 UMLS:C0752166 BBS Laurence-Moon syndrome Laurence-Moon-Bardet-Biedl syndrome Laurence-Moon-Biedl syndrome MONDO:0015229 Bardet-Biedl syndrome Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. COHD:45769152 DOID:445 GARD:0005893 ICD10:E26.8 ICD10:E26.81 ICD9:255.13 MESH:D001477 MedDRA:10050839 NCIT:C34412 OMIMPS:601678 Orphanet:112 SCTID:707742001 UMLS:C0004775 UMLS:C0085570 Bartter disease Bartter's syndrome aldosteronism with hyperplasia of the adrenal cortex hypokalemic alkalosis renal tubular normotensive hypokalemic alkalosis with hypercalciuria salt-losing tubular disorder, Henle's loop type salt-wasting tubulopathy, Henle's loop type Potassium wasting hypokalemic alkalosis with hypercalciuria MONDO:0015231 Bartter syndrome https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. DOID:0050950 OMIMPS:213200 Orphanet:1172 UMLS:CN226644 arca cerebellar ataxia, autosomal recessive MONDO:0015244 autosomal recessive cerebellar ataxia A anorectal malformation that is part of a larger syndrome. Orphanet:117573 UMLS:CN226645 syndrome associated with anorectal malformation syndromic anorectal malformation MONDO:0015246 syndromic anorectal malformation Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics. COHD:195072 GARD:0000232 ICD10:Q61.5 ICD9:753.17 MESH:D007691 MedDRA:10027104 NCIT:C34751 Orphanet:1309 SCTID:236443009 UMLS:C0022681 Cacchi-Ricci disease MSK Precalicial canalicular ectasia Cacchi Ricci disease Cacchi-Ricci syndrome Precalyceal canalicular ectasia cystic dilatation of renal collecting tubes sponge kidney MONDO:0015268 medullary sponge kidney https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. DOID:5212 GARD:0010307 ICD10:E77.8 ICD9:271.8 MESH:D018981 NCIT:C84615 OMIMPS:212065 Orphanet:137 SCTID:238049009 UMLS:C0282577 CDG carbohydrate deficient glycoprotein syndrome carbohydrate-deficient glycoprotein syndrome carbohydrate-deficient glycoprotein syndromes congenital disorders of glycosylation MONDO:0015286 congenital disorder of glycosylation Orphanet:138044 UMLS:CN199290 MONDO:0015319 rare disease with Pierre Robin syndrome https://github.com/monarch-initiative/mondo/issues/254 Orphanet:138047 UMLS:CN199291 Pierre Robin sequence associated with a chromosomal anomaly MONDO:0015320 Pierre Robin syndrome associated with a chromosomal anomaly Orphanet:139009 MONDO:0015327 developmental anomaly of metabolic origin Orphanet:139021 SCTID:205808005 UMLS:CN199359 congenital malformation syndrome and short stature congenital malformation syndrome associated with short stature malformation syndrome associated with short stature MONDO:0015329 malformation syndrome with short stature Orphanet:139024 UMLS:CN199360 MONDO:0015330 overgrowth/obesity syndrome Orphanet:139027 UMLS:CN199361 MONDO:0015331 malformation syndrome with skin/mucosae involvement Orphanet:139030 UMLS:CN199362 MONDO:0015332 rare developmental defect with connective tissue involvement https://github.com/monarch-initiative/mondo/issues/254 Orphanet:139036 UMLS:CN199364 MONDO:0015334 branchial arch or oral-acral syndrome Orphanet:139039 UMLS:CN199365 MONDO:0015335 orofacial clefting syndrome Orphanet:139042 UMLS:CN199366 MONDO:0015336 malformation syndrome with odontal and/or periodontal component A craniosynostosis that is part of a larger syndrome. Orphanet:139393 UMLS:CN226660 syndrome associated with craniosynostosis syndromic craniosynostosis MONDO:0015338 syndromic craniosynostosis The inherited predisposition toward getting a tumor. MESH:D009386 NCIT:C3266 Orphanet:140162 SCTID:699346009 UMLS:C0027672 UMLS:CN199448 UMLS:CN882908 cancer syndrome, hereditary cancer syndromes, hereditary familial neoplastic syndrome familial tumor syndrome hereditary cancer syndrome hereditary cancer syndromes hereditary neoplastic syndrome hereditary neoplastic syndromes hereditary tumor syndrome inherited cancer syndrome inherited cancer-predisposing syndrome neoplastic syndrome, hereditary syndrome, hereditary cancer syndrome, hereditary neoplastic syndromes, hereditary cancer syndromes, hereditary neoplastic MONDO:0015356 hereditary neoplastic syndrome A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) COHD:4134552 GARD:0012685 ICD10:G60.0 MESH:D015417 Orphanet:140450 SCTID:398100001 HMSN MONDO:0015358 hereditary motor and sensory neuropathy Orphanet:140653 UMLS:CN199459 MONDO:0015368 neuro-ophthalmological disease Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa. Orphanet:140874 UMLS:CN199461 JSRD MONDO:0015369 Joubert syndrome and related disorders Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. DOID:4501 GARD:0010692 ICD10:Q87.0 ICD9:759.89 MESH:D009958 OMIMPS:311200 Orphanet:140997 SCTID:52868006 OFD oral-facial-digital syndrome orofaciodigital syndrome oral facial digital syndromes oral-facial-digital syndromes orofaciodigital syndromes MONDO:0015375 orofaciodigital syndrome A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. ICD10:Q18.8 NCIT:C124510 Orphanet:141229 SCTID:92821006 cleft face craniofacial cleft prosoposchisis MONDO:0015411 facial cleft ICD10:Q18.8 Orphanet:141234 Midline facial cleft Tessier number 0-14 and 30 facial cleft MONDO:0015412 median facial cleft Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). ICD10:Q77.2 ICD9:756.3 MESH:D012779 NCIT:C85065 Orphanet:1505 SCTID:205484001 UMLS:C0036996 MONDO:0015461 short rib-polydactyly syndrome Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. DOID:2340 GARD:0006209 ICD10:Q75.0 MESH:D003398 MedDRA:10048907 MedDRA:10049889 NCIT:C84655 OMIMPS:123100 Orphanet:1531 UMLS:C0010278 craniosynostosis syndrome premature closure of cranial sutures CSO MONDO:0015469 craniosynostosis Orphanet:155832 UMLS:CN226686 MONDO:0015475 rare head and neck malformation https://github.com/monarch-initiative/mondo/issues/254 Orphanet:155896 MONDO:0015482 otomandibular dysplasia Orphanet:156140 MONDO:0015488 predominantly large-vessel vasculitis Orphanet:156143 MONDO:0015489 predominantly medium-vessel vasculitis Orphanet:156146 MONDO:0015490 predominantly small-vessel vasculitis Orphanet:156149 MONDO:0015491 immune complex mediated vasculitis Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. GARD:0013011 MESH:D056648 Orphanet:156152 UMLS:C2717865 AAV ANCA-associated vasculitis antineutrophil cytoplasmic antibody-associated vasculitis MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis Orphanet:156202 UMLS:CN199632 MONDO:0015495 otomandibular dysplasia associated with monogenic syndromes The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992) GARD:0003342 ICD10:Q38.2 MESH:D008260 MedDRA:10025391 Orphanet:156207 UMLS:C0024421 enlarged tongue giant tongue MONDO:0015496 macroglossia ICD10:Q38.3 Orphanet:156212 MONDO:0015497 hypoglossia/aglossia Orphanet:156215 UMLS:CN199634 MONDO:0015498 oromandibular-limb anomalies syndrome Orphanet:156237 UMLS:CN199635 MONDO:0015501 syndrome or malformation associated with head and neck malformations ICD10:Q30.0 ICD10:Q30.1 ICD10:Q30.2 ICD10:Q30.3 ICD10:Q30.8 ICD10:Q30.9 Orphanet:156246 MONDO:0015503 nose and cavum anomaly Orphanet:156532 UMLS:CN199638 MONDO:0015506 rare syndrome with cardiac malformations https://github.com/monarch-initiative/mondo/issues/254 Orphanet:156604 UMLS:CN199641 MONDO:0015508 genetic parenchymatous liver disease Genetic biliary tract disease. Orphanet:156607 UMLS:CN199642 genetic biliary tract disease MONDO:0015509 genetic biliary tract disease An instance of hypertension that is caused by a modification of the individual's genome. Orphanet:156629 UMLS:C0598428 genetic hypertension genetic hypertensive disorder MONDO:0015512 genetic hypertension MESH:D006130 Orphanet:156643 UMLS:CN237424 growth disorder MONDO:0015514 genetic endocrine growth disease Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). COHD:439789 DOID:0050120 GARD:0006589 ICD10:D76.1 ICD9:288.8 MedDRA:10058125 NCIT:C34792 NCIT:C35439 Orphanet:158032 SCTID:234437005 UMLS:C0024291 UMLS:C3887558 HLH HPS hemophagocytic lymphohistiocytosis hemophagocytic syndrome FHL familial erythrophagocytic lymphohistiocytosis familial hemophagocytic lymphohistiocytosis familial histiocytic reticulosis haemophagocytic syndrome hemophagocytic disorder MONDO:0015540 Editor note: NCIT treats hemophagocytic syndrome and Hemophagocytic Lymphohistiocytosis as distinct; we merge here but this should be checked. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/19 hemophagocytic syndrome https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis Genetic dementia. Orphanet:158124 genetic dementia MONDO:0015547 genetic dementia Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. ICD10:D56.0 ICD9:282.49 Orphanet:163596 SCTID:5300004 Alpha-thalassemia hydrops fetalis Alpha-thalassemia major Hemoglobin Bart's hydrops fetalis homozygous alpha0-thalassemia MONDO:0015579 Hb Bart's hydrops fetalis The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. ICD10:Q93.5 Orphanet:163693 SCTID:719652007 UMLS:C4304537 UMLS:CN199952 2p21 deletion syndrome Del(2)(p21) monosomy 2p21 MONDO:0015583 2p21 microdeletion syndrome Orphanet:164001 UMLS:CN226712 MONDO:0015603 rare odontal or periodontal disorder https://github.com/monarch-initiative/mondo/issues/254 An instance of aplastic anemia that is acquired during the lifetime of the individual. EFO:0006926 ICD10:D61.1 ICD10:D61.2 Orphanet:164823 SCTID:55907008 UMLS:C0271907 acquired aplastic anemia rare acquired aplastic anemia MONDO:0015610 acquired aplastic anemia Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction. DOID:0050699 GARD:0013105 ICD10:N25.8 MESH:D057973 MedDRA:10069199 NCIT:C123260 OMIMPS:300009 Orphanet:1652 SCTID:444645005 UMLS:C0878681 UMLS:CN239269 Dent syndrome Dent's disease X-linked recessive hypercalciuric hypophosphatemic rickets X-linked recessive hypophosphatemic rickets X-linked recessive nephrolithiasis low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis renal Fanconi syndrome with nephrocalcinosis and renal stones Dent disease 1 Dent disease 2 Dents disease MONDO:0015612 Dent disease A urogenital tract malformation that is not part of a larger syndrome. Orphanet:165704 isolated urogenital tract malformation nonsyndromic urogenital tract malformation MONDO:0015619 non-syndromic urogenital tract malformation A urogenital tract malformation that is part of a larger syndrome. Orphanet:165707 UMLS:CN226715 syndrome associated with urogenital tract malformation syndromic urogenital tract malformation MONDO:0015620 syndromic urogenital tract malformation An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs. DOID:10595 GARD:0006034 ICD10:G60.0 ICD9:356.1 MESH:D002607 MedDRA:10034699 NCIT:C75467 OMIMPS:118220 Orphanet:166 UMLS:C0007959 CMT CMT - Charcot-Marie-Tooth disease CMT/HMSN Charcot Marie Tooth muscular atrophy Charcot-Marie-Tooth disease Charcot-Marie-Tooth hereditary neuropathy hereditary motor and sensory neuropathy hereditary sensorimotor neuropathy peroneal muscular atrophy Charcot Marie Tooth disease Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy MONDO:0015626 Charcot-Marie-Tooth disease Orphanet:166463 epileptic syndrome syndromic epilepsy MONDO:0015650 epilepsy syndrome Orphanet:166466 UMLS:CN200062 MONDO:0015651 neurocutaneous syndrome with epilepsy Orphanet:166469 MONDO:0015652 chromosomal anomaly with epilepsy as a major feature https://github.com/monarch-initiative/mondo/projects/6 Orphanet:166472 UMLS:CN200063 monogenic disease with epilepsy MONDO:0015653 monogenic epilepsy Orphanet:166481 UMLS:C1299598 metabolic diseases with epilepsy MONDO:0015656 metabolic disease with epilepsy Orphanet:166484 UMLS:CN200066 MONDO:0015657 inflammatory and autoimmune disease with epilepsy Orphanet:169349 SCTID:254067002 MONDO:0015708 immuno-osseous dysplasia Orphanet:171898 MONDO:0015757 lymphoid hemopathy Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). ICD10:E23.0 NCIT:C120162 Orphanet:174590 SCTID:722944006 UMLS:C3899503 MONDO:0015770 congenital hypogonadotropic hypogonadism Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI). GARD:0006015 HP:0000863 ICD10:E23.2 MedDRA:10068587 Orphanet:178029 CDI neurogenic diabetes insipidus diabetes insipidus cranial type diabetes insipidus neurogenic diabetes insipidus neurohypophyseal MONDO:0015790 central diabetes insipidus Orphanet:179006 MONDO:0015823 primary immunodeficiency due to a defect in adaptive immunity Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia. GARD:0004667 HP:0008341 ICD10:N25.8 ICD9:588.89 MedDRA:10045224 OMIMPS:179800 Orphanet:18 SCTID:236461000 classic RTA dRTA distal renal tubular acidosis familial distal primary acidosis renal tubular acidosis type 1 renal tubular acidosis, distal MONDO:0015827 distal renal tubular acidosis (disease) Orphanet:180062 MONDO:0015828 uterovaginal malformation A uterovaginal malformation that is not part of a larger syndrome. Orphanet:180065 isolated uterovaginal malformation nonsyndromic uterovaginal malformation MONDO:0015829 non-syndromic uterovaginal malformation ICD10:Q51.8 Orphanet:180068 incomplete bilateral aplasia of the Mullerian ducts incomplete bilateral aplasia of the Müllerian ducts partial bilateral aplasia of the Müllerian ducts MONDO:0015830 partial bilateral aplasia of the mullerian ducts A uterovaginal malformation that is part of a larger syndrome. Orphanet:180148 UMLS:CN226751 syndrome associated with uterovaginal malformation syndromic uterovaginal malformation MONDO:0015846 syndromic uterovaginal malformation Orphanet:180163 MONDO:0015851 rare breast malformation https://github.com/monarch-initiative/mondo/issues/254 Orphanet:180173 MONDO:0015853 deficient breast volume or number Orphanet:180193 UMLS:CN226755 MONDO:0015856 syndromic breast hypoplasia/aplasia Orphanet:180208 MONDO:0015860 anomaly of puberty or/and menstrual cycle Orphanet:180766 UMLS:CN200485 MONDO:0015877 malformative syndrome with dentinogenesis imperfecta Orphanet:180779 UMLS:CN226770 MONDO:0015880 syndromic diaphragmatic or thoracic malformation Orphanet:181376 rare insulin-independent diabetes mellitus MONDO:0015887 rare diabetes mellitus type 2 https://github.com/monarch-initiative/mondo/issues/254 Orphanet:181381 UMLS:CN226773 MONDO:0015888 Editor note: consider merging other rare diabetes mellitus Orphanet:181384 UMLS:CN200503 MONDO:0015889 rare hypothalamic or pituitary disease https://github.com/monarch-initiative/mondo/issues/254 Orphanet:181387 rare disorder with secondary hypogonadism rare disorder with hypogonadotropic hypogonadism MONDO:0015890 rare disorder with congenital hypogonadotropic hypogonadism https://github.com/monarch-initiative/mondo/issues/254 Orphanet:181402 UMLS:CN200505 MONDO:0015895 syndrome with hypoparathyroidism A inherited lipid metabolism disorder that is part of a larger syndrome. Orphanet:181437 SCTID:109041000119107 UMLS:C3875286 complex dyslipidemia syndrome associated with inherited lipid metabolism disorder syndromic inherited lipid metabolism disorder rare syndromic dyslipidemia MONDO:0015905 syndromic dyslipidemia Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors. COHD:137829 DOID:12449 ICD10:D61.0 ICD10:D61.1 ICD10:D61.2 ICD10:D61.3 ICD10:D61.8 ICD10:D61.9 ICD9:284.8 ICD9:284.9 MESH:D000741 NCIT:C2870 Orphanet:182040 SCTID:306058006 MONDO:0015909 aplastic anemia MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. DOID:0060651 GARD:0000180 ICD10:D69.4 ICD9:287.33 Orphanet:182050 SCTID:712922002 MYH9-RD MYH9-related disorder MYH9-related syndrome MYH9-related syndromic thrombocytopenia Epstein syndrome Fechtner syndrome MYH9 related disorders MYH9 related thrombocytopenia MYH9-related disease May-Hegglin anomaly Sebastian platelet syndrome Sebastian syndrome MONDO:0015912 MYH-9 related disease https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia Orphanet:182054 UMLS:CN200513 MONDO:0015913 rare thrombotic disease of hematologic origin https://github.com/monarch-initiative/mondo/issues/254 Orphanet:182061 MONDO:0015915 cerebellar malformation Orphanet:182064 UMLS:CN200514 MONDO:0015916 rare neuroinflammatory or neuroimmunological disease https://github.com/monarch-initiative/mondo/issues/254 Orphanet:182073 UMLS:CN200517 MONDO:0015919 syndromic neurometabolic disease with non-X-linked intellectual disability Orphanet:182076 UMLS:CN200518 MONDO:0015920 syndromic neurometabolic disease with X-linked intellectual disability Orphanet:182083 MONDO:0015922 channelopathy with epilepsy An instance of peripheral neuropathy that is acquired during the lifetime of the individual. Orphanet:182086 acquired peripheral neuropathy MONDO:0015923 acquired peripheral neuropathy Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease). GARD:0007501 MedDRA:10064911 Orphanet:182090 SCTID:11399002 UMLS:C2973725 UMLS:CN200519 PAH PPH idiopathic pulmonary hypertension MONDO:0015924 pulmonary arterial hypertension A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. COHD:4119786 DOID:3082 EFO:0004244 GARD:0013336 ICD10:J84.9 MESH:D017563 MedDRA:10022611 Orphanet:182095 SCTID:233703007 UMLS:C0206062 ILD interstitial lung disease MONDO:0015925 interstitial lung disease Orphanet:182104 UMLS:CN200522 CTD-ILD secondary ILD in childhood and adulthood associated with a connective tissue disease MONDO:0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease Orphanet:182108 MONDO:0015929 thoracic malformation A non-syndromic urogenital tract malformation that involves the female organism. Orphanet:182117 female organism non-syndromic urogenital tract malformation non-syndromic urogenital tract malformation of female organism nonsyndromic urogenital tract malformation of female isolated urogenital tract malformation of female MONDO:0015932 non-syndromic urogenital tract malformation of female Orphanet:182124 nonsyndromic urogenital tract malformation of male and female isolated urogenital tract malformation of male and female MONDO:0015934 Editor note: consider obsoleting as semantics not clear non-syndromic urogenital tract malformation of male and female Orphanet:182214 UMLS:CN200527 MONDO:0015937 rare inflammatory eye disease https://github.com/monarch-initiative/mondo/issues/254 A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole. ICD9:799.89 NCIT:C9229 Orphanet:182222 SCTID:281867008 UMLS:C0442893 multi-system disorder multisystem disorder systemic disorder rare systemic disease MONDO:0015938 systemic disease An autoimmune form of systemic disease. Orphanet:182228 UMLS:CN200529 autoimmune systemic disease MONDO:0015939 systemic autoimmune disease Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. DOID:3049 EFO:0007208 GARD:0005776 GARD:0006111 ICD10:M30.1 MESH:D015267 MedDRA:10048594 NCIT:C34481 Orphanet:183 SCTID:82275008 UMLS:C0008728 Angiitides, allergic Angiitides, allergic granulomatous Angiitides, granulomatous allergic Churg Strauss syndrome Churg-Strauss syndrome Churg-Strauss vasculitis EGPA Granulomatoses, allergic Vasculitides, eosinophilic granulomatous allergic Angiitides allergic Angiitides, granulomatous allergic Granulomatoses allergic angiitis allergic angiitis and granulomatosis allergic angiitis, granulomatous allergic granulomatosis allergic granulomatosis angiitis allergic granulomatous Angiitides allergic granulomatous and angiitis allergic granulomatous angiitis angiitis, allergic angiitis, allergic granulomatous angiitis, granulomatous allergic eosinophilic granulomatous Vasculitides eosinophilic granulomatous vasculitis granulomatosis, allergic granulomatous Angiitides, allergic granulomatous Vasculitides, eosinophilic granulomatous allergic Angiitides granulomatous allergic angiitis granulomatous angiitis, allergic granulomatous vasculitis, eosinophilic syndrome, Churg-Strauss vasculitis, Churg Strauss vasculitis, Churg-Strauss vasculitis, eosinophilic granulomatous MONDO:0015943 eosinophilic granulomatosis with polyangiitis Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula. GARD:0000213 ICD10:Q87.8 MESH:C537790 Orphanet:1834 SCTID:765755006 UMLS:C2931613 Russell-Weaver-Bull syndrome blastogenesis defect Russell Weaver Bull syndrome MONDO:0015944 axial mesodermal dysplasia spectrum https://rarediseases.info.nih.gov/diseases/213/axial-mesodermal-dysplasia-spectrum Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. Orphanet:183422 UMLS:CN200541 PGSIRC MONDO:0015945 polymalformative genetic syndrome with increased risk of developing cancer An instance of ichthyosis (disease) that is caused by an inherited modification of the individual's genome. COHD:134743 ICD10:Q80 ICD9:757.1 MedDRA:10021202 Orphanet:183435 SCTID:13059002 congenital ichthyosis of skin genetic ichthyosis hereditary ichthyosis (disease) inherited genetic ichthyosis congenital ichthyosis fish scale disease fish skin ichthyosis congenita MONDO:0015947 inherited ichthyosis Orphanet:183487 UMLS:CN200547 genetic skin tumor MONDO:0015950 inherited skin tumor Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. photogenodermatosis photogénodermatose Orphanet:183490 genetic photosensitivity genetic skin photosensitivity MONDO:0015951 hereditary photodermatosis Orphanet:183503 UMLS:CN200550 MONDO:0015953 genetic central nervous system and retinal vascular disease Orphanet:183583 MONDO:0015961 genetic head and neck malformation Orphanet:183592 UMLS:CN200561 genetic renal tubular disease MONDO:0015962 inherited renal tubular disease Orphanet:183628 UMLS:CN200567 MONDO:0015968 rare genetic hypothalamic or pituitary disease https://github.com/monarch-initiative/mondo/issues/254 Orphanet:183634 UMLS:CN200569 MONDO:0015970 rare genetic parathyroid disease and phosphocalcic metabolism disorder https://github.com/monarch-initiative/mondo/issues/254 Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. DOID:0080200 ICD10:Q60.1 NCIT:C101219 Orphanet:1848 bilateral renal aplasia renal agenesis, bilateral MONDO:0015986 bilateral renal agenesis Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. ICD10:Q61.4 ICD9:753.19 MESH:D021782 NCIT:C123031 Orphanet:1851 SCTID:204962002 UMLS:C3714581 MCDK multicystic renal dysplasia MONDO:0015988 multicystic dysplastic kidney Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. ICD10:E83.4 Orphanet:199326 SCTID:722008003 UMLS:CN200728 MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type ICD10:D84.1 Orphanet:200421 MONDO:0016061 immunodeficiency with factor H anomaly Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees. COHD:135923 DOID:674 ICD10:Q35 ICD10:Q35.1 ICD10:Q35.3 ICD10:Q35.5 ICD10:Q35.7 ICD10:Q35.9 ICD9:749.0 ICD9:749.00 MESH:D002972 MedDRA:10009269 NCIT:C87069 Orphanet:2014 SCTID:63567004 UMLS:C0008925 cleft velum palatoschisis uranostaphyloschisis MONDO:0016064 cleft palate An instance of anomaly of puberty or/and menstrual cycle that is caused by a modification of the individual's genome. Orphanet:202940 genetic anomaly of puberty or/and menstrual cycle MONDO:0016072 anomaly of puberty or/and menstrual cycle of genetic origin Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. GARD:0002943 ICD10:E79.8 ICD9:277.6 Orphanet:206428 SCTID:124275001 HPRT deficiency HPRT1 deficiency hypoxanthine-guanine phosphoribosyltransferase 1 deficiency MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency An instance of skeletal muscle disease that is acquired during the lifetime of the individual. Orphanet:206638 UMLS:CN200878 acquired skeletal muscle disease MONDO:0016105 acquired skeletal muscle disease Orphanet:207015 MONDO:0016132 rare hereditary disease with peripheral neuropathy https://github.com/monarch-initiative/mondo/issues/254 Orphanet:207018 UMLS:CN200897 MONDO:0016133 rare hereditary metabolic disease with peripheral neuropathy https://github.com/monarch-initiative/mondo/issues/254 Genetic hypoparathyroidism. Orphanet:208593 genetic hypoparathyroidism MONDO:0016165 genetic hypoparathyroidism Genetic hyperparathyroidism. OMIMPS:145000 Orphanet:208596 genetic hyperparathyroidism MONDO:0016166 genetic hyperparathyroidism Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS). caps GARD:0010927 ICD10:E85.0 ICD9:759.89 MESH:D056587 MedDRA:10068850 NCIT:C84657 Orphanet:208650 SCTID:430079001 UMLS:C2316212 Cryopyrinopathy MONDO:0016168 cryopyrin-associated periodic syndrome Orphanet:209007 UMLS:CN200929 MONDO:0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy Orphanet:209013 MONDO:0016179 acquired amyloid peripheral neuropathy An instance of vascular anomaly that is caused by a modification of the individual's genome. Orphanet:211240 genetic vascular anomaly MONDO:0016229 genetic vascular anomaly Orphanet:211243 MONDO:0016230 simple vascular malformation Orphanet:211255 UMLS:CN200997 MONDO:0016233 rare lymphatic system malformation https://github.com/monarch-initiative/mondo/issues/254 Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. DOID:1064 GARD:0006236 ICD10:E72.0 ICD10:E72.04 MESH:D003554 MedDRA:10011777 NCIT:C2976 Orphanet:213 SCTID:190681003 UMLS:C0010690 UMLS:CN035091 Protein defect of cystin transport cystine storage disease Cystinoses cystine diathesis cystine disease MONDO:0016239 cystinosis https://rarediseases.info.nih.gov/diseases/6236/cystinosis Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. DOID:0080301 GARD:0006240 GARD:0008702 ICD10:D58.8 MESH:D065766 NCIT:C123223 Orphanet:2134 UMLS:C2931788 D-HUS aHUS atypical HUS atypical hemolytic uremic syndrome hemolytic-uremic syndrome without diarrhea non-diarrhea-associated hemolytic uremic syndrome D-minus hemolytic uremic syndrome (D-HUS) HUS, atypical MONDO:0016244 atypical hemolytic-uremic syndrome A adenocarcinoma that involves the uterine cervix. ICD10:C53.0 ICD10:C53.1 ICD10:C53.8 Orphanet:213772 cervical adenocarcinoma uterine cervix adenocarcinoma MONDO:0016275 adenocarcinoma of cervix uteri Orphanet:217581 UMLS:CN201159 MONDO:0016326 lysosomal disease with hypertrophic cardiomyopathy Orphanet:217587 UMLS:CN201160 MONDO:0016327 mitochondrial disease with hypertrophic cardiomyopathy Orphanet:217595 UMLS:CN201161 syndrome associated with hypertrophic cardiomyopathy MONDO:0016329 familial syndrome associated with hypertrophic cardiomyopathy An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. Orphanet:217598 UMLS:CN226903 acquired hypertrophic cardiomyopathy MONDO:0016330 non-familial hypertrophic cardiomyopathy A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure. GARD:0000221 GARD:0002905 ICD10:I42.0 MESH:C536231 OMIMPS:115200 Orphanet:217607 UMLS:C0340427 hereditary dilated cardiomyopathy DCM dilated cardiomyopathy, familial hypokinetic dilated cardiomyopathy, familial idiopathic dilated cardiomyopathy MONDO:0016333 Editor note: unsure if GARD is familial form familial dilated cardiomyopathy Orphanet:217619 UMLS:CN201167 MONDO:0016337 syndrome associated with dilated cardiomyopathy Orphanet:217629 UMLS:CN226906 MONDO:0016338 non-familial dilated cardiomyopathy An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome. ICD9:425.4 OMIMPS:115210 Orphanet:217635 SCTID:233878008 hereditary restrictive cardiomyopathy MONDO:0016340 familial restrictive cardiomyopathy Orphanet:217638 UMLS:CN201171 MONDO:0016341 lysosomal disease with restrictive cardiomyopathy EFO:1001473 Orphanet:217720 UMLS:CN226908 MONDO:0016345 non-familial restrictive cardiomyopathy Hydrocephalus that is present at birth. COHD:438244 ICD10:Q03 ICD10:Q03.0 ICD10:Q03.1 ICD10:Q03.8 ICD10:Q03.9 MedDRA:10010506 NCIT:C98876 OMIMPS:236600 Orphanet:2185 SCTID:47032000 UMLS:C0020256 congenital hydrocephalus HYC3 MONDO:0016349 congenital hydrocephalus Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. ICD10:Q87.8 Orphanet:2186 Daentl-Townsend-Siegel syndrome MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome ICD10:E83.5 Orphanet:2197 idiopathic hypercalciuria MONDO:0016352 Editor note: consider grouping class idiopathic inherited hypercalciuria Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). GARD:0009751 ICD10:M34.0 NCIT:C116791 Orphanet:220393 dSSc diffuse cutaneous systemic scleroderma progressive cutaneous systemic scleroderma progressive cutaneous systemic sclerosis DcSSc MONDO:0016356 diffuse cutaneous systemic sclerosis https://rarediseases.info.nih.gov/diseases/9751/diffuse-cutaneous-systemic-sclerosis Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. GARD:0001053 ICD10:M34.1 Orphanet:220402 SCTID:298285004 limited cutaneous systemic scleroderma MONDO:0016358 limited cutaneous systemic sclerosis Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. GARD:0009749 ICD10:M34.0 NCIT:C116789 Orphanet:220407 SCTID:128461001 UMLS:C1290138 SSC without skin involvement systemic sclerosis sine scleroderma systemic sclerosis without skin involvement Scleroderma, sine progressive systemic sclerosis sine scleroderma MONDO:0016359 limited systemic sclerosis An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome. GARD:0002837 ICD10:E21.0 Orphanet:2207 UMLS:CN201220 hereditary primary hyperparathyroidism (disease) MONDO:0016365 familial primary hyperparathyroidism Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. COHD:80182 DOID:10223 EFO:0000398 GARD:0006263 ICD10:M33 ICD10:M33.0 ICD10:M33.1 ICD10:M33.9 ICD10:M33.90 ICD9:710.3 MESH:D003882 MedDRA:10012503 NCIT:C26744 Orphanet:221 SCTID:396230008 UMLS:C0011633 DM adult dermatomyositis dermatomyositis dermatopolymyositis polymyositis with skin involvement Amyopathic dermatomyositis MONDO:0016367 dermatomyositis Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children. COHD:438476 DOID:12387 GARD:0007178 ICD10:N25.1 ICD9:588.1 MESH:D018500 MedDRA:10029147 NCIT:C84919 Orphanet:223 SCTID:111395007 UMLS:C0162283 ADH resistant diabetes insipidus diabetes insipidus nephrogenic diabetes insipidus nephrogenic X-linked diabetes insipidus nephrogenic type 1 vasopressin-resistant diabetes insipidus MONDO:0016383 nephrogenic diabetes insipidus Orphanet:223713 UMLS:CN201288 OXPHOS disease OXPHOS system deficiency MONDO:0016387 mitochondrial oxidative phosphorylation disorder Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. COHD:193323 DOID:11717 ICD10:P70.2 ICD9:775.1 MedDRA:10028933 NCIT:C99248 Orphanet:224 SCTID:49817004 UMLS:C0158981 NDM congenital diabetes mellitus diabetes mellitus syndrome in newborn infant MONDO:0016391 neonatal diabetes mellitus Orphanet:225681 UMLS:CN201328 MONDO:0016397 lysosomal disease with epilepsy Orphanet:225686 UMLS:CN201329 MONDO:0016398 peroxisomal disease with epilepsy Orphanet:225692 UMLS:CN226914 MONDO:0016400 metal transport or utilization disorder with epilepsy Orphanet:225696 UMLS:CN226915 MONDO:0016401 energy metabolism disorder with epilepsy Orphanet:225700 UMLS:CN201331 MONDO:0016402 mitochondrial disease with epilepsy Orphanet:225703 UMLS:CN201332 MONDO:0016403 mitochondrial disease with peripheral neuropathy Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. DOID:0111142 GARD:0004066 GARD:4066 ICD10:Q60.4 NCIT:C123202 Orphanet:2260 SCTID:18417009 UMLS:C0431694 Oligomeganephronic renal hypoplasia MONDO:0016407 oligomeganephronia ICD10:Q87.3 Orphanet:231117 UMLS:CN201470 Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15 MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ICD10:Q87.3 Orphanet:231120 UMLS:CN201471 MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation ICD10:Q87.3 Orphanet:231127 UMLS:CN201472 MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion ICD10:Q87.3 Orphanet:231130 UMLS:CN201473 MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. ICD10:D56.1 ICD9:282.49 NCIT:C129699 Orphanet:231214 SCTID:26682008 Beta thalassemia Major Cooley anemia Cooley's Anemia Mediterranean anemia MONDO:0016486 beta-thalassemia major Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. ICD10:D56.1 ICD9:282.49 MedDRA:10062923 Orphanet:231222 SCTID:191189009 MONDO:0016487 beta-thalassemia intermedia Orphanet:231641 UMLS:CN226947 MONDO:0016508 rare non surgically correctable form of primary aldosteronism https://github.com/monarch-initiative/mondo/issues/254 Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol. ICD10:E26.0 MESH:C580087 NCIT:C127160 OMIMPS:103900 Orphanet:235936 Orphanet:371861 SCTID:703231005 UMLS:C3713420 UMLS:CN229602 FH genetic hyperaldosteronism hereditary hyperaldosteronism MONDO:0016525 familial hyperaldosteronism Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating. GARD:0001975 ICD10:Q64.7 ICD9:753.8 Orphanet:237 SCTID:69015003 urethral duplication MONDO:0016529 duplication of urethra https://rarediseases.info.nih.gov/diseases/1975/duplication-of-urethra ICD10:E85.0 Orphanet:238269 UMLS:CN201610 AApoAII amyloidosis familial amyloid nephropathy due to apolipoprotein A-II variant familial renal amyloidosis due to apolipoprotein A-II variant hereditary amyloid nephropathy due to apolipoprotein A-II variant hereditary renal amyloidosis due to apolipoprotein A-II variant MONDO:0016533 apolipoprotein A-II amyloidosis ICD10:E72.0 Orphanet:238517 UMLS:CN226952 hypotonia-cystinuria type 1 syndrome MONDO:0016538 hypotonia-cystinuria syndrome type 1 Atypical hypotonia-cystinuria syndrome is a form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). ICD10:E72.0 Orphanet:238523 UMLS:CN201620 atypical HCS MONDO:0016539 atypical hypotonia-cystinuria syndrome ICD10:Q87.3 Orphanet:238613 UMLS:CN201629 MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. ICD10:Q62.7 Orphanet:238637 SCTID:253904001 megaureter-megacystis syndrome MONDO:0016548 megacystis-megaureter syndrome ICD10:Q62.2 Orphanet:238642 UMLS:CN201632 MONDO:0016549 primary megaureter, adult-onset form ICD10:Q62.2 Orphanet:238646 MONDO:0016550 congenital primary megaureter, obstructed form ICD10:Q62.2 Orphanet:238650 MONDO:0016551 congenital primary megaureter, refluxing form ICD10:Q62.2 Orphanet:238654 MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form Orphanet:240371 UMLS:CN226963 syndrome associated with obesity (disease) syndromic obesity (disease) MONDO:0016565 syndromic genetic obesity Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). DOID:0050144 DOID:9562 GARD:0004484 GARD:0006815 ICD10:Q34.8 MESH:D002925 MESH:D007619 MedDRA:10069713 NCIT:C84797 OMIMPS:244400 Orphanet:244 SCTID:42402006 SCTID:86204009 UMLS:C0008780 Kartagener syndrome Kartagener's syndrome PCD ciliary motility disorder immotile ciliary syndrome Dextrocardia bronchiectasis and sinusitis Dextrocardia-bronchiectasis-sinusitis syndrome ICS Immotile cilia syndrome, Kartagener type Primary ciliary dyskinesia and situs inversus Primary ciliary dyskinesia, Kartagener type Siewert syndrome bronchiectasis, chronic sinusitis and dextrocardia syndrome ciliary dyskinesia primary kartageners syndrome MONDO:0016575 Editor note: we deliberately merge two MESHes here primary ciliary dyskinesia Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. Orphanet:2443 UMLS:CN201731 OXPHOS disease due to nDNA anomalies OXPHOS disease due to nuclear DNA anomalies mitochondrial oxidative phosphorylation disorder due to nDNA anomalies MONDO:0016578 mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Orphanet:244305 UMLS:CN228623 MONDO:0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis Orphanet:248296 constitutional rare deficiency anemia MONDO:0016624 inherited deficiency anemia Orphanet:248326 UMLS:CN236380 rare bleeding disorder due to a platelet anomaly rare bleeding disorder due to a thrombopathy and/or thrombocytopenia rare coagulopathy due to a platelet anomaly rare coagulopathy due to a thrombopathy and/or thrombocytopenia rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia MONDO:0016629 hemorrhagic disorder due to a platelet anomaly https://github.com/monarch-initiative/mondo/issues/254 A hemorrhagic disorder due to a platelet anomaly which develops after birth. Orphanet:248347 UMLS:CN226981 rare bleeding disorder due to an acquired platelet anomaly rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia rare coagulopathy due to an acquired platelet anomaly rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia MONDO:0016631 hemorrhagic disorder due to an acquired platelet anomaly https://github.com/monarch-initiative/mondo/issues/254 Orphanet:248368 UMLS:CN226985 MONDO:0016635 thrombotic disorder due to a platelet anomaly https://github.com/monarch-initiative/mondo/issues/254 ICD10:M35.1 MedDRA:10027754 Orphanet:251312 UMLS:CN201903 MONDO:0016663 overlapping connective tissue disease Orphanet:252190 UMLS:CN202004 MONDO:0016756 inherited nervous system cancer-predisposing syndrome An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis. DOID:0080027 GARD:0007687 ICD10:Q77.7 ICD9:756.9 MedDRA:10062920 Orphanet:252 Orphanet:253 SCTID:254062008 SED and SEMD spondylo-epi-(meta)-physeal dysplasia spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia MONDO:0016761 spondyloepiphyseal dysplasia Orphanet:254758 UMLS:CN202048 OXPHOS disease due to mitochondrial DNA anomalies OXPHOS disease due to mtDNA anomalies mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies MONDO:0016791 mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Orphanet:254776 UMLS:CN202050 OXPHOS disease due to a point mutation of mitochondrial DNA OXPHOS disease due to a point mutation of mtDNA mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA MONDO:0016793 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Orphanet:254793 UMLS:CN202051 OXPHOS disease due to a duplication of mitochondrial DNA OXPHOS disease due to a duplication of mtDNA mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA MONDO:0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA MESH:C580039 Orphanet:254871 UMLS:C3711385 UMLS:CN069134 deoxyguanosine kinase deficiency mtDNA depletion syndrome, hepatocerebral form MONDO:0016808 Editor note: consider merging with MONDO:0014943 mitochondrial DNA depletion syndrome, hepatocerebral form Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n. GARD:0003443 ICD10:K56.0 ICD9:359.89 Orphanet:2604 SCTID:63684002 UMLS:C0266833 UMLS:C1835084 UMLS:CN202146 Megaduodenum and/or megacystis familial hollow visceral myopathy hereditary hollow visceral myopathy pseudoobstruction idiopathic intestinal visceral myopathy familial MONDO:0016829 familial visceral myopathy ICD10:Q44.7 Orphanet:261600 UMLS:CN202205 Alagille syndrome due to del(20)(p12) Alagille syndrome due to monosomy 20p12 Alagille-Watson syndrome due to monosomy 20p12 Arteriohepatic dysplasia due to monosomy 20p12 syndromic bile duct paucity due to monosomy 20p12 MONDO:0016861 Alagille syndrome due to 20p12 microdeletion ICD10:Q44.7 OMIM:118450 Orphanet:261619 UMLS:C1956125 UMLS:CN202206 Alagille syndrome type 1 Alagille-Watson syndrome due to a JAG1 point mutation arteriohepatic dysplasia due to a JAG1 point mutation syndromic bile duct paucity due to a JAG1 point mutation ALGS1 Alagille syndrome 1 Alagille-Watson syndrome arteriohepatic dysplasia cholestasis with peripheral pulmonary stenosis hepatic ductular hypoplasia, syndromatic MONDO:0016862 Alagille syndrome due to a JAG1 point mutation ICD10:Q93.5 Orphanet:261771 partial deletion of chromosome type 2 partial monosomy of chromosome 2 MONDO:0016867 partial deletion of chromosome 2 ICD10:Q93.5 Orphanet:261796 partial deletion of chromosome type 7 partial monosomy of chromosome 7 MONDO:0016872 partial deletion of chromosome 7 ICD10:Q93.5 Orphanet:261801 partial deletion of chromosome type 8 partial monosomy of chromosome 8 MONDO:0016873 partial deletion of chromosome 8 ICD10:Q93.5 Orphanet:261811 partial monosomy of chromosome 10 MONDO:0016875 partial deletion of chromosome 10 ICD10:Q93.5 Orphanet:261816 partial deletion of chromosome type 11 partial monosomy of chromosome 11 MONDO:0016876 partial deletion of chromosome 11 ICD10:Q93.5 Orphanet:261826 partial deletion of chromosome type 16 partial monosomy of chromosome 16 MONDO:0016878 partial deletion of chromosome 16 ICD10:Q93.5 Orphanet:261831 partial deletion of chromosome type 17 partial monosomy of chromosome 17 MONDO:0016879 partial deletion of chromosome 17 ICD10:Q93.5 Orphanet:261846 partial deletion of chromosome type 20 partial monosomy of chromosome 20 MONDO:0016882 partial deletion of chromosome 20 ICD10:Q93.5 Orphanet:261866 partial deletion of chromosome 2p partial deletion of the short arm of chromosome type 2 partial monosomy of chromosome 2p partial monosomy of the short arm of chromosome 2 MONDO:0016884 partial deletion of the short arm of chromosome 2 ICD10:Q93.5 Orphanet:261938 UMLS:C0795836 partial deletion of chromosome 10p partial deletion of the short arm of chromosome type 10 partial monosomy of chromosome 10p partial monosomy of the short arm of chromosome 10 MONDO:0016892 partial deletion of the short arm of chromosome 10 ICD10:Q93.5 Orphanet:261947 partial deletion of chromosome 11p partial deletion of the short arm of chromosome type 11 partial monosomy of chromosome 11p partial monosomy of the short arm of chromosome 11 MONDO:0016893 partial deletion of the short arm of chromosome 11 ICD10:Q93.5 Orphanet:261956 partial deletion of chromosome 16p partial deletion of the short arm of chromosome type 16 partial monosomy of chromosome 16p partial monosomy of the short arm of chromosome 16 MONDO:0016894 partial deletion of the short arm of chromosome 16 GARD:0003739 ICD10:Q93.5 MESH:C535370 Orphanet:261992 UMLS:CN036364 Pure partial 20p deletion partial deletion of chromosome 20p partial deletion of the short arm of chromosome 20 partial monosomy of chromosome 20p partial monosomy of the short arm of chromosome type 20 20p deletion 20p monosomy chromosome 20p deletion deletion 20p monosomy 20p partial monosomy 20p MONDO:0016898 partial monosomy of the short arm of chromosome 20 Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. GARD:0003765 ICD10:Q93.5 NCIT:C36408 Orphanet:262056 del(7q) loss of chromosome 7q partial deletion of chromosome 7q partial deletion of the long arm of chromosome type 7 partial monosomy of chromosome 7q partial monosomy of the long arm of chromosome 7 7q deletion 7q monosomy deletion 7q monosomy 7q partial monosomy 7q MONDO:0016906 partial deletion of the long arm of chromosome 7 Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. GARD:0003770 ICD10:Q93.5 MESH:C537828 Orphanet:262065 UMLS:C0795828 partial deletion of chromosome 8q partial deletion of the long arm of chromosome type 8 partial monosomy of chromosome 8q partial monosomy of the long arm of chromosome 8 8q deletion 8q monosomy chromosome 8q deletion deletion 8q monosomy 8q partial monosomy 8q MONDO:0016907 partial deletion of the long arm of chromosome 8 ICD10:Q93.5 Orphanet:262137 partial deletion of chromosome 17q partial deletion of the long arm of chromosome type 17 partial monosomy of chromosome 17q partial monosomy of the long arm of chromosome 17 MONDO:0016915 partial deletion of the long arm of chromosome 17 ICD10:Q93.5 Orphanet:262182 partial deletion of chromosome 22q partial deletion of the long arm of chromosome type 22 partial monosomy of chromosome 22q partial monosomy of the long arm of chromosome 22 MONDO:0016920 partial deletion of the long arm of chromosome 22 Orphanet:262653 SCTID:726350006 partial duplication of chromosome type 11 partial trisomy of chromosome 11 MONDO:0016932 partial duplication of chromosome 11 Orphanet:262785 partial duplication of chromosome 11p partial duplication of the short arm of chromosome type 11 partial trisomy of chromosome 11p partial trisomy of the short arm of chromosome 11 MONDO:0016948 partial duplication of the short arm of chromosome 11 Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH) ICD10:E26.8 Orphanet:263417 UMLS:C3715128 Bartter syndrome type 5 Bartter syndrome type V MONDO:0016983 Bartter syndrome with hypocalcemia Orphanet:263708 MONDO:0016998 complex chromosomal rearrangement Orphanet:263714 MONDO:0016999 X chromosome number anomaly ICD10:Q99.8 Orphanet:263726 partial deletion of chromosome type X partial monosomy of chromosome X MONDO:0017003 partial deletion of chromosome X ICD10:Q99.8 Orphanet:263756 partial deletion of chromosome Xq partial deletion of the long arm of chromosome type X partial monosomy of chromosome Xq partial monosomy of the long arm of chromosome X MONDO:0017007 partial deletion of the long arm of chromosome X A interstitial lung disease that occurs during childhood. Orphanet:264656 SCTID:328661000119108 UMLS:CN202324 ILD specific to childhood childhood interstitial lung disease interstitial lung disease of childhood pediatric interstitial lung disease MONDO:0017014 interstitial lung disease specific to childhood GARD:0010559 Orphanet:264665 UMLS:CN202326 primary ILD specific to childhood primary interstitial lung disease specific to childhood child children's interstitial lung disease MONDO:0017015 primary interstitial lung disease specific to childhood https://rarediseases.info.nih.gov/diseases/10559/childrens-interstitial-lung-disease Orphanet:264670 UMLS:CN202327 primary ILD specific to childhood due to alveolar structure disorder MONDO:0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder Orphanet:264699 UMLS:CN202333 secondary ILD specific to childhood associated with a systemic disease MONDO:0017020 secondary interstitial lung disease specific to childhood associated with a systemic disease Orphanet:264704 UMLS:CN202334 secondary ILD specific to childhood associated with a connective tissue disease MONDO:0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease Orphanet:264709 UMLS:CN202335 secondary ILD specific to childhood associated with a systemic vasculitis MONDO:0017022 secondary interstitial lung disease specific to childhood associated with a systemic vasculitis Orphanet:264757 UMLS:CN202341 ILD in childhood and adulthood MONDO:0017030 interstitial lung disease in childhood and adulthood Orphanet:264944 UMLS:CN202346 secondary ILD in childhood and adulthood MONDO:0017034 secondary interstitial lung disease in childhood and adulthood Orphanet:264949 UMLS:CN202347 secondary ILD in childhood and adulthood associated with a systemic disease MONDO:0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease Orphanet:264973 UMLS:CN202349 secondary ILD in childhood and adulthood associated with a systemic vasculitis MONDO:0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. DOID:4773 GARD:0001493 ICD10:D41.0 ICDO:8960/1 MedDRA:10070665 NCIT:C6569 Orphanet:2665 UMLS:C1332965 CMn congenital mesoblastic nephroma mesoblastic nephroma stromal nephroma, malignant MONDO:0017043 congenital mesoblastic nephroma https://rarediseases.info.nih.gov/diseases/1493/congenital-mesoblastic-nephroma This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. Orphanet:2666 UMLS:CN202376 MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome Orphanet:269523 UMLS:CN202468 MONDO:0017118 syndrome with a cerebellar malformation as major feature Orphanet:269528 UMLS:CN202469 MONDO:0017119 syndrome with microcephaly as major feature Orphanet:269531 UMLS:CN202470 MONDO:0017120 Editor note: consider deleting all 'other' terms other syndrome with a central nervous system malformation as major feature Orphanet:269546 UMLS:CN202471 MONDO:0017121 syndrome with a Dandy-Walker malformation as major feature Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. DOID:0050763 GARD:0000794 ICD10:Q89.7 MESH:C535382 OMIMPS:208085 Orphanet:2697 SCTID:720513002 ARC syndrome arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome arthrogryposis, renal dysfunction, and cholestasis arthrogryposis-renal dysfunction-cholestasis arthrogryposis - renal dysfunction - cholestasis arthrogryposis multiplex congenita, renal dysfunction, and cholestasis arthrogryposis renal dysfunction cholestasis syndrome MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome GARD:0004028 Orphanet:2716 UMLS:CN202523 oculo skeletal renal syndrome MONDO:0017126 oculo-skeletal-renal syndrome https://rarediseases.info.nih.gov/diseases/4028/oculo-skeletal-renal-syndrome An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome. Orphanet:271832 UMLS:CN202526 genetic mesenchymal cell neoplasm genetic mesenchymal tumor hereditary mesenchymal cell neoplasm genetic soft tissue tumor MONDO:0017127 inherited soft tissue tumor Orphanet:271853 MONDO:0017131 genetic cardiac anomaly An instance of systemic or rheumatic disease that is caused by a modification of the individual's genome. Orphanet:271870 UMLS:CN202531 hereditary systemic or rheumatic disease MONDO:0017133 genetic systemic or rheumatologic disease Orphanet:275729 UMLS:CN227098 rare bleeding disorder due to a constitutional thrombocytopenia rare bleeding disorder due to a quantitative platelet defect rare coagulopathy due to a constitutional thrombocytopenia rare coagulopathy due to a quantitative platelet defect rare hemorrhagic disorder due to a constitutional thrombocytopenia rare hemorrhagic disorder due to a quantitative platelet defect MONDO:0017141 hemorrhagic disorder due to a constitutional thrombocytopenia https://github.com/monarch-initiative/mondo/issues/254 Genetic infertility. Orphanet:275742 genetic infertility hereditary infertility disorder MONDO:0017143 genetic infertility ICD10:D56.0 Orphanet:275745 UMLS:CN202570 MONDO:0017144 alpha-thalassemia and related diseases ICD10:D56.1 Orphanet:275749 UMLS:CN202571 MONDO:0017145 beta-thalassemia and related diseases ICD10:D57.0 ICD10:D57.1 ICD10:D57.2 ICD10:D57.3 ICD10:D57.8 Orphanet:275752 UMLS:CN202572 MONDO:0017146 sickle cell disease and related diseases Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. COHD:44783618 ICD10:I27.0 NCIT:C121945 OMIMPS:178600 Orphanet:275777 SCTID:697897003 UMLS:CN202575 FPAH HpaH familial pulmonary arterial hypertension hereditary pulmonary arterial hypertension MONDO:0017148 heritable pulmonary arterial hypertension Orphanet:275853 UMLS:CN202581 MONDO:0017159 syndrome with pulmonary hypertension as a major feature https://github.com/monarch-initiative/mondo/projects/6 Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. COHD:81403 DOID:13533 GARD:0004155 HP:0011002 ICD10:Q78.2 ICD9:756.52 MedDRA:10031280 NCIT:C26840 OMIMPS:259700 Orphanet:2781 SCTID:1926006 Albers-Schonberg disease marble bone marble bone disease marble bones osteopetrosis Albers-Schoenberg disease osteopetroses osteopetrosis and related disorders osteosclerosis fragilis MONDO:0017198 osteopetrosis (disease) Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2). GARD:0012623 ICD10:E71.1 Orphanet:28 SCTID:69614003 adenosylcobalamin deficiency vitamin B12-responsive methylmalonic aciduria MONDO:0017214 vitamin B12-responsive methylmalonic acidemia https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus. COHD:196464 DOID:4776 ICD10:N01 ICD9:580.4 ICD9:582.4 ICD9:583.4 MedDRA:10018378 NCIT:C35264 Orphanet:280569 SCTID:236392004 UMLS:C0221239 RPGN crescentic glomerulonephritis MONDO:0017236 rapidly progressive glomerulonephritis A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. MONDO:0006885 COHD:439014 DOID:12030 EFO:1001082 GARD:0008577 HP:0012121 ICD10:H44.1 ICD10:H44.11 ICD9:360.12 MESH:D015864 MedDRA:10033687 NCIT:C84989 Orphanet:280898 SCTID:75614007 diffuse uveitis panuveitis total uveitis MONDO:0017255 panuveitis (disease) Orphanet:280926 UMLS:CN202777 MONDO:0017259 systemic diseases with anterior uveitis Orphanet:280930 UMLS:CN202778 MONDO:0017260 systemic diseases with posterior uveitis Orphanet:280933 UMLS:CN202779 MONDO:0017261 systemic diseases with panuveitis A inherited ichthyosis that is not part of a larger syndrome. Orphanet:281082 isolated inherited ichthyosis nonsyndromic inherited ichthyosis MONDO:0017262 inherited non-syndromic ichthyosis A inherited ichthyosis that is part of a larger syndrome. Orphanet:281085 syndrome associated with inherited ichthyosis syndromic inherited ichthyosis MONDO:0017263 inherited ichthyosis syndromic form Autosomal recessive form of inherited ichthyosis. DOID:0060655 OMIMPS:242300 Orphanet:281097 ARCI autosomal recessive inherited ichthyosis ichthyosis, congenital, autosomal recessive inherited ichthyosis, autosomal recessive MONDO:0017265 Editor note: ORDO classifies as non-syndromic but syndromic forms exist autosomal recessive congenital ichthyosis Orphanet:281217 UMLS:CN202791 MONDO:0017270 autosomal ichthyosis syndrome Orphanet:281238 UMLS:CN202793 autosomal ichthyosis syndrome with prominent neurologic signs MONDO:0017272 autosomal ichthyosis syndrome with prominent neurologics signs Orphanet:281241 UMLS:CN202794 MONDO:0017273 autosomal ichthyosis syndrome with fatal disease course Orphanet:281244 UMLS:CN202795 MONDO:0017274 autosomal ichthyosis syndrome with other associated signs Orphanet:2838 UMLS:CN202834 MONDO:0017281 renal caliceal diverticuli-deafness syndrome A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. DOID:0080356 GARD:0012521 MedDRA:10071569 NCIT:C95992 ORDO:284264 Orphanet:284264 UMLS:C3203653 IgG4-related sclerosing disease IgG4-related systemic disease Immunoglobulin G4-related sclerosing disease IgG4-associated disease IgG4-positive multiorgan lymphoproliferative syndrome IgG4-related autoimmune disease IgG4-related systemic sclerosing disease IgG4-syndrome hyper-IgG4 disease multifocal fibrosclerosis multifocal idiopathic fibrosclerosis systemic IgG4-related plasmacytic syndrome systemic IgG4-related sclerosing syndrome MONDO:0017287 IgG4-related disease ICD10:E70.2 ICD9:270.2 Orphanet:284818 SCTID:37200009 UMLS:CN202881 MONDO:0017307 disorder of tyrosine metabolism Orphanet:289635 UMLS:CN203003 MONDO:0017341 virus associated tumor https://github.com/monarch-initiative/mondo/issues/254 Orphanet:289638 UMLS:CN203004 EBV-related tumor MONDO:0017342 Epstein-Barr virus-related tumor Orphanet:289656 UMLS:CN203006 EBV-associated mesenchymal tumor MONDO:0017345 Epstein-Barr virus-associated mesenchymal tumor Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. ICD10:E71.1 Orphanet:289916 SCTID:237945003 UMLS:CN203025 complete deficiency of methylmalonyl-CoA mutase vitamin B12-unresponsive methylmalonic aciduria type mut0 MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 Orphanet:290836 UMLS:CN203041 MONDO:0017368 systemic disease with skin involvement Orphanet:290839 UMLS:CN203042 MONDO:0017369 autoinflammatory syndrome with immune deficiency Orphanet:290842 UMLS:CN203043 MONDO:0017370 autoinflammatory syndrome with skin involvement Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase. ICD10:E71.1 Orphanet:293355 methylmalonic aciduria without homocystinuria MONDO:0017390 methylmalonic acidemia without homocystinuria Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. DOID:0060259 OMIMPS:208540 Orphanet:294415 SCTID:763891005 UMLS:C2673883 Ivemark II syndrome Ivemark's syndrome Renohepaticopancreatic dysplasia MONDO:0017417 renal-hepatic-pancreatic dysplasia Orphanet:294955 UMLS:CN203180 MONDO:0017432 syndrome with limb reduction defects Orphanet:294959 UMLS:CN203181 MONDO:0017434 syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine. GARD:0006007 ICD10:Q76.0 MedDRA:10054842 MedDRA:10059387 MedDRA:10068896 NCIT:C124505 Orphanet:3027 UMLS:C1838568 UMLS:C1867774 caudal dysplasia sacral agenesis syndrome sacral regression syndrome MONDO:0017607 caudal regression sequence Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. GARD:0000379 ICD10:Q63.8 Orphanet:3033 SCTID:702397002 primitive renal tubule syndrome renotubular dysgenesis MONDO:0017609 renal tubular dysgenesis Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. DOID:3209 GARD:0002152 MESH:D016109 NCIT:C90598 Orphanet:305 SCTID:79855003 UMLS:C0079301 EBJ JEB congenital junctional epidermolysis bullosa epidermolysis bullosa atrophicans epidermolysis bullosa hereditaria letalis epidermolysis bullosa, junctional MONDO:0017612 junctional epidermolysis bullosa https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN). GARD:0009891 ICD10:E83.4 Orphanet:306516 UMLS:CN203511 FHHNC Michellis-Castrillo syndrome MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis https://rarediseases.info.nih.gov/diseases/9891/familial-primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis Orphanet:306519 SCTID:711151004 UMLS:CN227163 MONDO:0017625 familial primary hypomagnesemia with hypocalcuria Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type. ICD10:E83.4 Orphanet:306522 UMLS:CN227164 MONDO:0017626 familial primary hypomagnesemia with normocalcuria Orphanet:306765 MONDO:0017656 motor stereotypies Orphanet:307061 Orphanet:307064 UMLS:CN227173 UMLS:CN227174 rare genetic myoclonus MONDO:0017663 inherited tremor disorder https://github.com/monarch-initiative/mondo/issues/254 ICD10:E71.1 Orphanet:308442 UMLS:CN203582 vitamin B12-responsive methylmalonic aciduria, type cblDv2 MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport. ICD10:E72.0 Orphanet:308451 UMLS:CN203583 inborn error of neutral amino acid transport inborn neutral amino acid transport disorder rare inborn error of neutral amino acid transport MONDO:0017687 disorder of neutral amino acid transport ICD10:E74.1 Orphanet:308463 SCTID:39452003 UMLS:C0342744 MONDO:0017689 disorder of fructose metabolism ICD10:E74.2 Orphanet:308467 SCTID:237963003 UMLS:C0342745 MONDO:0017690 disorder of galactose metabolism ICD10:E74.2 Orphanet:308473 SCTID:297238008 UMLS:C0574090 erythrocyte GALE deficiency erythrocyte GALE-D erythrocyte UDP-galactose-4-epimerase deficiency erythrocyte epimerase deficiency galactosemia erythrocyte uridine diphosphate galactose-4-epimerase deficiency MONDO:0017691 erythrocyte galactose epimerase deficiency ICD10:E74.2 Orphanet:308487 SCTID:297237003 UMLS:C0574089 generalized GALE deficiency generalized GALE-D generalized UDP-galactose-4-epimerase deficiency generalized epimerase deficiency galactosemia generalized uridine diphosphate galactose-4-epimerase deficiency MONDO:0017692 generalized galactose epimerase deficiency Orphanet:308998 UMLS:CN227177 MONDO:0017703 disorder of glyoxylate metabolism Orphanet:309001 UMLS:CN227180 MONDO:0017706 disorder of carbohydrate absorption and transport GARD:0010670 ICD10:E77.0 ICD10:E77.1 ICD10:E77.8 ICD10:E77.9 Orphanet:309279 MONDO:0017731 See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 glycoproteinosis https://rarediseases.info.nih.gov/diseases/10670/glycoproteinosis Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. ICD10:E77.1 MedDRA:10058800 Orphanet:309294 SCTID:38795005 MONDO:0017734 sialidosis A disease that has its basis in the disruption of protein N-linked glycosylation. ICD10:E77.8 Orphanet:309347 UMLS:CN227187 disorder of protein N-linked glycosylation protein N-linked glycosylation disease MONDO:0017740 disorder of protein N-glycosylation A disease that has its basis in the disruption of protein O-linked glycosylation. ICD10:E77.8 Orphanet:309447 UMLS:CN227188 disorder of protein O-linked glycosylation protein O-linked glycosylation disease MONDO:0017741 disorder of protein O-glycosylation ICD10:E77.8 Orphanet:309450 UMLS:CN227189 MONDO:0017742 disorder of O-xylosylglycan synthesis ICD10:E77.8 Orphanet:309515 UMLS:CN227194 disorder of glycosphingolipid and GPI-anchored proteins glycosylation disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation ICD10:E77.8 Orphanet:309526 UMLS:CN227195 MONDO:0017749 disorder of multiple glycosylation GARD:0012476 Orphanet:309810 UMLS:CN227198 MONDO:0017753 disorder of peroxisomal alpha-, beta- and omega-oxidation https://rarediseases.info.nih.gov/diseases/12476/disorder-of-peroxisomal-alpha--beta--and-omega-oxidation An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. disorder of porphyrin and haem metabolism ICD10:E80.0 ICD10:E80.1 ICD10:E80.2 ICD10:E80.3 ICD10:E80.4 ICD10:E80.5 ICD10:E80.6 ICD10:E80.7 Orphanet:309813 SCTID:403832004 UMLS:C1275125 inborn disorder of porphyrin and haem metabolism inborn error of porphyrin-containing compound metabolic process inborn porphyrin-containing compound metabolic process disorder inherited disorder of porphyrin metabolism rare inborn error of porphyrin-containing compound metabolic process MONDO:0017754 Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired. inborn disorder of porphyrin metabolism An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome. Orphanet:309816 UMLS:CN227200 disorder of bilirubin metabolism disorder of bilirubin metabolism and excretion hereditary bilirubin metabolism disease inborn disorder of bilirubin metabolism and excretion bilirubin metabolism disorder MONDO:0017755 inborn disorder of bilirubin metabolism Orphanet:309824 UMLS:CN227202 MONDO:0017757 disorder of metabolite absorption and transport Orphanet:309827 UMLS:CN227203 disorder of vitamin and non-protein cofactor absorption and transport MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport ICD10:E83.0 ICD10:E83.1 ICD10:E83.2 ICD10:E83.3 ICD10:E83.4 ICD10:E83.5 ICD10:E83.8 ICD10:E83.9 Orphanet:309836 UMLS:CN227205 MONDO:0017761 disorder of mineral absorption and transport An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. COHD:436672 ICD10:E83.0 ICD9:275.1 MedDRA:10061091 Orphanet:309839 SCTID:79886009 UMLS:C0012714 UMLS:CN043585 inborn cellular copper ion homeostasis disorder inborn error of cellular copper ion homeostasis rare inborn error of cellular copper ion homeostasis copper Transport disorders MONDO:0017762 disorder of copper metabolism ICD10:E83.2 ICD9:275.8 MedDRA:10048260 Orphanet:309845 SCTID:46727001 disorder of zinc metabolism and transport MONDO:0017764 disorder of zinc metabolism An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport. ICD10:E83.4 Orphanet:309848 UMLS:CN227207 inborn error of magnesium ion transport inborn magnesium ion transport disorder rare inborn error of magnesium ion transport MONDO:0017765 disorder of magnesium transport Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). ICD10:Q51.8 MedDRA:10065148 NCIT:C124853 Orphanet:3109 MRKH MRKH syndrome Mullerian aplasia/dysgenesis Rokitansky syndrome Mayer-Rokitansky-Küster-Hauser syndrome MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood. ICD10:E78.6 MESH:D052456 MedDRA:10065156 NCIT:C84774 Orphanet:31153 SCTID:190785000 UMLS:C0473527 MONDO:0017773 hypoalphalipoproteinemia Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement. ICD10:E85.0 ICD10:E85.1 ICD10:E85.2 ICD10:E85.3 NCIT:C8299 Orphanet:314701 SCTID:89449005 UMLS:C0268380 UMLS:C0281479 systemic AL amyloidosis systemic Immunoglobulin Light chain amyloidosis systemic amyloidosis MONDO:0017816 primary systemic amyloidosis Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin. ICD10:E85.4 Orphanet:314709 localized AL amyloidosis MONDO:0017817 primary localized amyloidosis ICD10:N25.8 Orphanet:314822 MONDO:0017828 primary renal tubular acidosis Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. ICD10:N25.8 Orphanet:314889 UMLS:CN203801 AD pRTA proximal renal tubular acidosis, autosomal dominant MONDO:0017829 autosomal dominant proximal renal tubular acidosis A hypersensitivity reaction type II disease that involves the skin of body. DOID:0060039 Orphanet:315350 UMLS:CN203818 autoimmune disease of skin and connective tissue integument hypersensitivity reaction type II disease skin of body hypersensitivity reaction type II disease MONDO:0017841 autoimmune disease with skin involvement Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. DOID:0050576 GARD:0000322 ICD10:Q61.5 MESH:C537580 OMIMPS:266900 Orphanet:3156 UMLS:CN117960 Loken Senior syndrome SLSN nephronophthisis with retinal dystrophy renal dysplasia-retinal aplasia syndrome renal-retinal syndrome Senior Loken syndrome renal dysplasia retinal aplasia MONDO:0017842 Senior-Loken syndrome Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma. DOID:4465 EFO:0000640 GARD:0009572 GARD:0009575 ICD10:C64 NCIT:C6975 OMIM:605074 ONCOTREE:PRCC Orphanet:319298 Orphanet:47044 SCTID:733608000 UMLS:C1306837 UMLS:C1336078 UMLS:CN205129 HPRCC chromophil carcinoma of kidney chromophil carcinoma of the kidney chromophil renal cell carcinoma papillary (chromophil) renal cell carcinoma papillary kidney carcinoma papillary renal cell adenocarcinoma papillary renal cell cancer papillary renal cell carcinoma renal cell carcinoma, papillary, type 1 sporadic papillary renal cell carcinoma RCCP RCCP1 chromophil RCC papillary renal carcinoma, malignant - (subtype) papillary renal cell carcinoma, bilateral - (subtype) papillary renal cell carcinoma, familial - (subtype) papillary renal cell carcinoma, multiple - (subtype) papillary renal cell carcinoma, sporadic - (subtype) renal adenocarcinoma renal cell carcinoma, papillary, 1 MONDO:0017884 papillary renal cell carcinoma https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described. DOID:4471 EFO:0000335 GARD:0006064 ICD10:C64 ICDO:8270/3 ICDO:8317/3 NCIT:C4146 ONCOTREE:CHRCC Orphanet:319303 SCTID:733471003 UMLS:C1266042 UMLS:C3887514 chromophobe adenocarcinoma chromophobe carcinoma chromophobe carcinoma of kidney chromophobe carcinoma of the kidney chromophobe cell carcinoma of kidney chromophobe cell carcinoma of the kidney chromophobe renal cell adenocarcinoma chromophobe renal cell cancer chromophobe renal cell carcinoma kidney chromophobe renal cell carcinoma, chromophobe cell renal cell carcinoma, chromophobe type CHRCC CRCC ChRCC MONDO:0017885 chromophobe renal cell carcinoma https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. ICD10:C64 Orphanet:319308 SCTID:764694005 UMLS:C4518356 carcinoma associated with MITF/TFE translocation translocation renal cell carcinoma MONDO:0017886 MIT family translocation renal cell carcinoma Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma. ICD10:C64 NCIT:C100051 Orphanet:319314 UMLS:C3272295 renal cell cancer associated with neuroblastoma renal cell carcinoma after neuroblastoma renal cell carcinoma associated with neuroblastoma MONDO:0017887 renal cell carcinoma associated with neuroblastoma Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported. ICD10:C64 NCIT:C126303 Orphanet:319325 SCTID:733603009 UMLS:C4288091 Tubulocystic renal cell cancer MONDO:0017890 tubulocystic renal cell carcinoma Orphanet:319328 UMLS:CN203941 MONDO:0017891 inherited renal cancer-predisposing syndrome Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. DC:0000711 ICD10:C73 OMIMPS:188550 Orphanet:319494 UMLS:C3501843 UMLS:CN227216 thyroid cancer, nonmedullary MONDO:0017896 Note the OMIM phenotypic series lacks a member classified by ORDO familial nonmedullary thyroid carcinoma Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. DOID:0080173 GARD:0002207 ICD10:Q64.1 Orphanet:322 UMLS:C1838703 BEEC EEC bladder exstrophy-epispadias-cloacal extrophy complex exstrophy-epispadias complex MONDO:0017919 bladder exstrophy-epispadias-cloacal exstrophy complex This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. Orphanet:3240 UMLS:CN204056 Yoshimura-Takeshita syndrome MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. ICD10:I42.2 Orphanet:324525 UMLS:CN204073 hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Orphanet:324767 UMLS:CN204097 MONDO:0017952 non-familial rare disease with dilated cardiomyopathy An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome. ICD10:E85.0 MESH:D056660 Orphanet:324924 UMLS:CN204099 hereditary periodic fever syndrome MONDO:0017953 hereditary periodic fever syndrome Orphanet:324936 UMLS:CN204103 MONDO:0017957 unclassified autoinflammatory syndrome Orphanet:325351 UMLS:CN227232 46,XY DSD of endocrine origin MONDO:0017969 46,XY disorder of sex development of endocrine origin Orphanet:325357 UMLS:CN227233 46,XY DSD due to impaired androgen production MONDO:0017970 46,XY disorder of sex development due to impaired androgen production Orphanet:325511 UMLS:CN227234 46,XY DSD due to a cholesterol synthesis defect MONDO:0017971 46,XY disorder of sex development due to a cholesterol synthesis defect Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism. MESH:D058533 Orphanet:325546 Sex chromosome DSD MONDO:0017975 sex chromosome disorder of sex development Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm. COHD:440740 DOID:2508 EFO:1001857 GARD:0007730 ICD10:M31.4 ICD9:446.7 MESH:D013625 MedDRA:10043097 NCIT:C34391 NCIT:C35062 OMIM:207600 Orphanet:3287 SCTID:239937004 UMLS:C0039263 Takayasu arteritis Takayasu's arteritis Takayasu's disease aortic Arch syndrome aortic arch arteritis idiopathic aortitis pharyngeal arch artery syndromic disease TA Takayasu disease Young female arteritis pulseless disease MONDO:0017991 Takayasu arteritis Orphanet:329888 JIIM MONDO:0018010 juvenile idiopathic inflammatory myopathy ICD10:N00.5 Orphanet:329918 C3 glomerulopathy non-Ig-mediated MPGN non-Ig-mediated membranoproliferative glomerulonephritis non-immunoglobulin-mediated MPGN MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis Orphanet:331217 UMLS:CN204279 MONDO:0018035 syndrome with combined immunodeficiency ICD10:D81.4 Orphanet:331220 MONDO:0018036 immunodeficiency due to absence of thymus Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. GARD:0005175 ICD10:Q87.8 MESH:C536514 Orphanet:3316 SCTID:716740009 UMLS:C2931225 Potter sequence-cleft lip/palate-cardiopathy syndrome MONDO:0018043 Thomas syndrome Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. DOID:11665 GARD:0007341 ICD10:Q91.4 ICD10:Q91.5 ICD10:Q91.6 ICD10:Q91.7 ICD9:758.1 MESH:C536305 MedDRA:10044686 NCIT:C101223 NCIT:C36529 Orphanet:3378 SCTID:21111006 UMLS:C0152095 UMLS:CN204386 D1 trisomy Patau syndrome Patau's syndrome complete trisomy 13 syndrome trisomy 13 trisomy type 13 D trisomy syndrome (formerly) chromosome 13, trisomy 13 complete MONDO:0018068 trisomy 13 Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. DOID:1085 GARD:0006321 ICD10:Q91.0 ICD10:Q91.1 ICD10:Q91.2 ICD10:Q91.3 ICD9:758.2 MESH:C580500 MedDRA:10053884 NCIT:C36626 Orphanet:3380 SCTID:51500006 UMLS:C0152096 E3 trisomy Edwards syndrome chromosome 18 duplication complete trisomy 18 syndrome trisomy 18 trisomy type 18 18 trisomy chromosome 18 trisomy trisomy 16-18 (formerly) trisomy E (formerly) MONDO:0018071 trisomy 18 A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. DOID:0080074 ICD9:742.8 MESH:D009436 NCIT:C84923 Orphanet:3388 SCTID:253098009 NTD spinal dysraphism MONDO:0018075 neural tube defect A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. COHD:434557 DOID:399 GARD:0007827 ICD10:A15.A19 ICD9:017.90 ICD9:017.92 ICD9:017.94 ICD9:017.96 MESH:D014376 MedDRA:10044755 NCIT:C3423 Orphanet:3389 SCTID:56717001 UMLS:C0041296 UMLS:C0151332 active tuberculosis tuberculosis disease Kochs disease TB MONDO:0018076 tuberculosis https://rarediseases.info.nih.gov/diseases/7827/tuberculosis A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. EFO:1001968 GARD:0004898 NCIT:C9306 Orphanet:3394 SCTID:424952003 UMLS:CN204398 connective tissue sarcoma malignant mesenchymal tumor malignant soft tissue tumor non-Rhabdo. soft tissue sarcoma sarcoma of soft tissue sarcoma of the soft tissue soft part sarcoma soft tissue sarcoma non-rhabdomyosarcoma soft tissue sarcoma, NOS MONDO:0018078 soft tissue sarcoma Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. COHD:193445 DOID:2987 GARD:0006421 ICD10:E85.0 ICD9:277.31 MESH:D010505 MedDRA:10016207 NCIT:C84707 Orphanet:342 SCTID:12579009 UMLS:C0031069 FMF benign paroxysmal peritonitis benign recurrent polyserositis familial paroxysmal polyserositis periodic disease MONDO:0018088 familial Mediterranean fever A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. hypomagnesemia DOID:0060879 GARD:0002906 ICD10:E83.4 NCIT:C123263 OMIMPS:602014 Orphanet:34526 SCTID:80710001 HOMG familial primary hypomagnesemia primary familial hypomagnesemia MONDO:0018100 familial primary hypomagnesemia Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. ICD10:E83.4 Orphanet:34527 SCTID:725031005 UMLS:C4510731 UMLS:CN204443 MONDO:0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. DOID:0060236 HP:0010934 ICD10:E79.8 ICD9:277.2 OMIMPS:278300 Orphanet:3467 SCTID:54627004 classic xanthinuria hereditary xanthinuria xanthic urolithiasis xanthine dehydrogenase deficiency xanthine oxidase deficiency xanthine stone disease xanthinuria MONDO:0018106 hereditary xanthinuria Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. COHD:439788 DOID:9870 GARD:0002424 ICD10:E74.2 ICD10:E74.21 ICD9:271.1 MESH:D005693 MedDRA:10017604 NCIT:C84723 OMIMPS:230400 Orphanet:352 SCTID:190745006 UMLS:C0016952 galactosaemia galactose intolerance galactosemia MONDO:0018116 galactosemia Orphanet:352301 UMLS:CN227264 MONDO:0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance. Orphanet:352456 UMLS:CN204491 inborn error of mitochondrial genome maintenance inborn mitochondrial genome maintenance disorder mtDNA maintenance syndrome rare inborn error of mitochondrial genome maintenance MONDO:0018121 mitochondrial DNA maintenance syndrome A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. DOID:0050730 GARD:0010423 MESH:C564403 NCIT:C142083 OMIMPS:607426 Orphanet:35656 SCTID:724575009 UMLS:C1843920 UMLS:CN229570 CoQ10 deficiency coenzyme Q10 deficiency disease coenzyme Q10 deficiency, primary CoQ10 deficiency, primary MONDO:0018151 coenzyme Q10 deficiency https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency ICD10:E88.8 Orphanet:35696 UMLS:CN227273 COXPD combined OXPHOS defect combined OXPHOS deficiency combined oxidative phosphorylation defect MONDO:0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. DC:0000284 DOID:0070329 ICD10:G71.3 MedDRA:10059396 OMIMPS:603041 Orphanet:35698 UMLS:CN239350 mtDNA depletion syndrome MONDO:0018158 mitochondrial DNA depletion syndrome DOID:0080388 ICD10:D58.8 Orphanet:357008 UMLS:CN204596 D-HUS with DGKE deficiency aHUS with DGKE deficiency atypical HUS with DGKE deficiency hemolytic-uremic syndrome without diarrhea with DGKE deficiency MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency Nephrotic syndrome for which no cause has been identified. NCIT:C122796 Orphanet:357502 UMLS:C3496337 MONDO:0018170 idiopathic nephrotic syndrome Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. GARD:0002486 MESH:C580055 Orphanet:359 UMLS:CN227278 hereditary glaucoma (disease) glaucoma, hereditary MONDO:0018174 hereditary glaucoma https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary Orphanet:363294 UMLS:CN204685 MONDO:0018187 genetic syndromic Pierre Robin syndrome ICD10:E88.8 Orphanet:363534 UMLS:CN204706 mtDNA depletion syndrome, hepatocerebrorenal form MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form DOID:0111253 ICD10:Q85.0 Orphanet:363700 UMLS:CN204726 Von Recklinghausen disease due to NF1 mutation or intragenic deletion MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations. GARD:0006725 ICD10:M31.8 Orphanet:36412 SCTID:239945009 UMLS:C0343206 UMLS:CN204757 Mac Duffie hypocomplementemic urticarial vasculitis Mac Duffie syndrome McDuffie hypocomplementemic urticarial vasculitis McDuffie syndrome anti-C1q vasculitis MONDO:0018227 hypocomplementemic urticarial vasculitis https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis Orphanet:364526 primary osteodysplasia primary skeletal dysplasia MONDO:0018230 Editor note: ORDO has these as genetic, but some forms may not be genetic - check this primary bone dysplasia A disorder of the development of bone in which ossification is affected. DOID:1934 ICD9:756.9 MESH:D004413 NCIT:C34560 Orphanet:364559 SCTID:109420003 UMLS:C0013393 dysostosis MONDO:0018234 dysostosis Orphanet:364568 MONDO:0018235 dysostosis with limb anomaly as a major feature https://github.com/monarch-initiative/mondo/projects/6 Orphanet:364571 MONDO:0018236 dysostosis with limb and face anomalies as a major feature https://github.com/monarch-initiative/mondo/projects/6 ICD10:Q93.5 Orphanet:369886 UMLS:CN204808 2p21 contiguous gene deletion syndrome MONDO:0018246 homozygous 2p21 microdeletion syndrome Orphanet:370106 UMLS:CN227296 MONDO:0018265 rare disorder with dystonia and other neurologic or systemic manifestation https://github.com/monarch-initiative/mondo/issues/254 ICD10:E77.8 Orphanet:371047 CDG with neurological involvement MONDO:0018284 congenital disorder of glycosylation with neurological involvement ICD10:E77.8 Orphanet:371064 non-X-linked CDG with intellectual disability as a major feature MONDO:0018286 non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature https://github.com/monarch-initiative/mondo/projects/6 ICD10:E77.8 Orphanet:371071 CDG with epilepsy as a major feature MONDO:0018287 congenital disorder of glycosylation with epilepsy as a major feature https://github.com/monarch-initiative/mondo/projects/6 ICD10:E77.8 Orphanet:371157 CDG with hepatic involvement MONDO:0018288 congenital disorder of glycosylation with hepatic involvement ICD10:E77.8 Orphanet:371183 CDG with cardiac malformation as a major feature MONDO:0018290 congenital disorder of glycosylation with cardiac malformation as a major feature https://github.com/monarch-initiative/mondo/projects/6 ICD10:E77.8 Orphanet:371188 CDG with intestinal involvement MONDO:0018291 congenital disorder of glycosylation with intestinal involvement ICD10:E77.8 Orphanet:371200 CDG with skin involvement MONDO:0018293 congenital disorder of glycosylation with skin involvement ICD10:E77.8 Orphanet:371207 CDG with nephropathy as a major feature MONDO:0018294 congenital disorder of glycosylation with nephropathy as a major feature https://github.com/monarch-initiative/mondo/projects/6 GARD:0012782 ICD10:E77.8 Orphanet:371235 CDG with developmental anomaly MONDO:0018296 congenital disorder of glycosylation with developmental anomaly https://rarediseases.info.nih.gov/diseases/12782/congenital-disorder-of-glycosylation-with-developmental-anomaly Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. ICD10:Q04.3 Orphanet:397715 SCTID:733418003 UMLS:C4518774 UMLS:CN225944 JBTS with JATD Joubert syndrome with JATD MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy Orphanet:398091 UMLS:CN226097 Transplacentally acquired neonatal autoimmune disease MONDO:0018356 secondary neonatal autoimmune disease ICD10:M33.1 Orphanet:398117 neonatal DM MONDO:0018359 neonatal dermatomyositis A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. EFO:0004537 GARD:0009563 ICD10:M32.8 MESH:C536397 NCIT:C99236 Orphanet:398124 SCTID:95609003 UMLS:C0409979 congenital lupus congenital lupus erythematosus neonatal SLE neonatal lupus neonatal lupus syndrome neonatal systemic lupus erythematosus MONDO:0018360 neonatal lupus erythematosus Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure. ICD10:M87.0 ICD10:M87.1 ICD10:M87.2 ICD10:M87.3 ICD10:M87.8 ICD10:M87.9 NCIT:C34841 Orphanet:399164 SCTID:397758007 AVN avascular necrosis of bone MONDO:0018373 avascular necrosis ICD10:M87.1 ICD10:M87.2 ICD10:M87.3 Orphanet:399169 secondary AVN MONDO:0018374 secondary avascular necrosis Orphanet:399185 UMLS:CN205038 MONDO:0018377 rare hereditary disease with avascular necrosis https://github.com/monarch-initiative/mondo/issues/254 ICD10:M87.8 Orphanet:399302 primary AVN MONDO:0018379 primary avascular necrosis An instance of osteonecrosis that is caused by a modification of the individual's genome. ICD10:M93.9 Orphanet:399380 bone necrosis of genetic origin genetic osteonecrosis MONDO:0018383 osteonecrosis of genetic origin An instance of avascular necrosis that is caused by a modification of the individual's genome. ICD10:M93.9 Orphanet:399388 genetic avascular necrosis MONDO:0018384 avascular necrosis of genetic origin ICD10:N46 Orphanet:399572 UMLS:CN227334 rare male infertility due to gonadotropic axis disorder rare male infertility due to hypothalamic-pituitary-testicular axis disorder MONDO:0018386 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder https://github.com/monarch-initiative/mondo/issues/254 ICD10:N46 Orphanet:399584 UMLS:CN227335 MONDO:0018387 rare male infertility due to adrenal disorder https://github.com/monarch-initiative/mondo/issues/254 ICD10:N46 Orphanet:399764 UMLS:CN227337 Male infertility due to testicular dysgenesis or sperm disorder MONDO:0018389 male infertility due to gonadal dysgenesis or sperm disorder ICD10:N46 Orphanet:399771 UMLS:CN227338 MONDO:0018390 male infertility due to sperm disorder ICD10:N46 Orphanet:399813 UMLS:CN227341 Male infertility due to asthenozoospermia MONDO:0018395 male infertility due to sperm motility disorder Orphanet:399824 UMLS:CN227342 rare disorder due to impaired sperm transport rare disorder with obstructive azoospermia MONDO:0018396 rare male fertility disorder with obstructive azoospermia https://github.com/monarch-initiative/mondo/issues/254 ICD10:N97.0 Orphanet:399831 UMLS:CN227343 rare female infertility due to gonadotropic axis disorder rare female infertility due to hypothalamic-pituitary-ovarian axis disorder MONDO:0018397 female infertility due to hypothalamic-pituitary-gonadal axis disorder https://github.com/monarch-initiative/mondo/issues/254 ICD10:N97.0 Orphanet:399839 Orphanet:399846 rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism MONDO:0018398 female infertility due to a congenital hypogonadotropic hypogonadism Orphanet:399849 UMLS:CN227346 MONDO:0018400 rare female infertility due to an adrenal disorder https://github.com/monarch-initiative/mondo/issues/254 ICD10:N97.0 Orphanet:399853 UMLS:CN227347 MONDO:0018401 female infertility due to an anomaly of ovarian function https://github.com/monarch-initiative/mondo/issues/254 ICD10:N97.0 Orphanet:399877 female infertility due to ovarian dysgenesis rare female infertility due to ovarian dysgenesis rare female infertility due to gonadal dysgenesis MONDO:0018402 female infertility due to gonadal dysgenesis ICD10:N97.2 Orphanet:399882 rare female infertility due to an implantation defect MONDO:0018403 female infertility due to an implantation defect An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. ICD10:N46 Orphanet:399983 UMLS:CN227350 genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder rare male infertility due to gonadotropic axis disorder of genetic origin rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin MONDO:0018405 rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin https://github.com/monarch-initiative/mondo/issues/254 ICD10:N46 Orphanet:399998 Male infertility due to impaired sperm transport of genetic origin MONDO:0018407 male infertility due to obstructive azoospermia of genetic origin Orphanet:400003 UMLS:CN227352 rare genetic disorder due to impaired sperm transport MONDO:0018409 Editor note: unclear how this is distinguished from parent; sib is Congenital bilateral absence of vas deferens rare genetic disorder with obstructive azoospermia https://github.com/monarch-initiative/mondo/issues/254 An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. ICD10:N97.0 Orphanet:400011 UMLS:CN227354 genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder rare female infertility due to gonadotropic axis disorder of genetic origin rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin MONDO:0018411 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin https://github.com/monarch-initiative/mondo/issues/254 ICD10:N97.0 Orphanet:400022 UMLS:CN227356 MONDO:0018413 female infertility due to an anomaly of ovarian function of genetic origin https://github.com/monarch-initiative/mondo/issues/254 ICD10:N97.2 Orphanet:400025 MONDO:0018414 female infertility due to an implantation defect of genetic origin Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed. ICD10:N25.8 Orphanet:402041 UMLS:C1864498 AR dRTA autosomal recessive distal RTA autosomal recessive distal renal tubular acidosis (disease) distal renal tubular acidosis (disease), autosomal recessive MONDO:0018440 autosomal recessive distal renal tubular acidosis ICD10:Q87.3 Orphanet:404476 UMLS:CN226190 glow syndrome MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome. ICD10:C64 ONCOTREE:CCPRC Orphanet:404511 SCTID:734015000 UMLS:C4518333 MONDO:0018448 clear cell papillary renal cell carcinoma Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. ICD10:C64 Orphanet:404514 UMLS:CN226194 MONDO:0018449 acquired cystic disease-associated renal cell carcinoma An instance of dysostosis that is caused by a modification of the individual's genome. Orphanet:404568 genetic dysostosis MONDO:0018454 dysostosis of genetic origin Orphanet:404571 MONDO:0018455 dysostosis of genetic origin with limb anomaly as a major feature https://github.com/monarch-initiative/mondo/projects/6 Orphanet:404584 UMLS:CN227376 rare genetic skeletal development disorder MONDO:0018457 rare genetic bone development disorder https://github.com/monarch-initiative/mondo/issues/254 Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders. ICD10:E79.8 Orphanet:411536 UMLS:CN237443 mild PRPP synthetase superactivity mild PRPS1 superactivity MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies. ICD10:E79.8 Orphanet:411543 UMLS:CN237444 severe PRPP synthetase superactivity severe PRPS1 superactivity MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. ICD10:E72.0+ ICD10:N16.3* MONDO:0009065 Orphanet:411629 cystinosis, infantile nephropathic CTNS cystinosin, defect of cystinosis, atypical nephropathic lysosomal cystine transport protein, defect of MONDO:0018467 nephropathic infantile cystinosis Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s). COHD:4003487 DOID:14766 GARD:0009228 HP:0000104 HP:0008678 ICD10:Q60.0 ICD10:Q60.1 ICD10:Q60.2 NCIT:C99041 OMIMPS:191830 Orphanet:411709 SCTID:204942005 absent/small kidney absent/underdeveloped kidney hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal agenesis renal agenesis/hypoplasia renal aplasia renal hypodysplasia/aplasia MONDO:0018470 renal agenesis (disease) Orphanet:420755 UMLS:CN237489 MONDO:0018488 May be obsoleted. The semantics of the ORDO class are not clear rare genetic odontal or periodontal disorder https://github.com/monarch-initiative/mondo/issues/254 A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common. MONDO:0004137 DOID:7192 ICD10:C64 NCIT:C36260 Orphanet:422526 SCTID:764961009 UMLS:CN237493 Hereditary clear cell renal cell cancer hereditary clear cell renal carcinoma hereditary clear cell renal cell adenocarcinoma hereditary clear cell renal cell carcinoma hereditary conventional (clear cell) renal cell carcinoma hereditary conventional renal cell carcinoma MONDO:0018492 hereditary clear cell renal cell carcinoma Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus. HP:0010479 ICD10:Q64.4 NCIT:C99005 Orphanet:431341 SCTID:398316009 UMLS:CN237552 patent urachus MONDO:0018551 patent urachus (disease) Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected. ICD10:Q64.4 Orphanet:431344 SCTID:451030007 UMLS:CN237553 MONDO:0018552 urachal sinus Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications. ICD10:Q64.4 NCIT:C123254 Orphanet:431347 SCTID:253899000 UMLS:CN237554 Vesicourachal diverticulum MONDO:0018553 urachal diverticulum Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction. EFO:0009199 Orphanet:431353 UMLS:CN237555 MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. DOID:0090070 DOID:7455 HP:0000044 ICD10:E23.0 ICD9:253.4 NCIT:C113347 OMIMPS:147950 Orphanet:432 SCTID:33927004 UMLS:CN235466 Normosmic idiopathic hypogonadotropic hypogonadism central hypogonadism gonadotropic deficiency hypogonadism, hypogonadotropic hypogonadotropic hypogonadism hypogonadotropic hypogonadism with or without anosmia hypogonadotropism low gonadotropins (secondary hypogonadism) nIHH normosmic congenital hypogonadotropic hypogonadism secondary hypogonadism congenital idiopathic hypogonadotropic hypogonadism isolated congenital gonadotropin deficiency isolated hypogonadotropic hypogonadism MONDO:0018555 hypogonadotropic hypogonadism Orphanet:435365 SCTID:717752005 UMLS:C4305545 LUTO MONDO:0018559 fetal lower urinary tract obstruction ICD10:Q64.7 Orphanet:435372 SCTID:253907008 UMLS:CN242188 MONDO:0018560 Editor note: consider obsoleting as represents a finding anterior urethral valve Orphanet:435603 MONDO:0018562 genetic otorhinolaryngological malformation Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum. Orphanet:435743 MONDO:0018565 congenital urachal anomaly ICD10:E85.8 Orphanet:439232 apolipoprotein A-IV amyloidosis MONDO:0018589 AApoAIV amyloidosis ICD10:E85.9 Orphanet:442582 heavy chain amyloidosis MONDO:0018613 AH amyloidosis Orphanet:443287 UMLS:CN237670 MONDO:0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. GARD:0006611 MESH:D028226 NCIT:C84555 Orphanet:444116 SCTID:367601000119103 UMLS:C0206246 amyloidosis, Familial hereditary amyloidosis (disease) amyloidosis hereditary familial amyloidosis MONDO:0018634 hereditary amyloidosis https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate. DOID:4479 ICD9:255.8 MESH:D011546 NCIT:C85034 Orphanet:444916 SCTID:77098009 UMLS:C0033805 MONDO:0018638 pseudohypoaldosteronism ICD10:N11.8 Orphanet:449395 UMLS:CN237737 MONDO:0018671 IgG4-related kidney disease A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. DOID:0050545 EFO:0009081 ICD10:Q89.3 MedDRA:10067265 NCIT:C117273 OMIMPS:306955 Orphanet:450 UMLS:C3178805 heterotaxia syndrome heterotaxy syndrome heterotaxy, visceral lateralization defect visceral heterotaxy heterotaxia situs ambiguus MONDO:0018677 visceral heterotaxy Orphanet:458844 UMLS:CN242093 MONDO:0018723 rare vascular malformation of major vessels https://github.com/monarch-initiative/mondo/issues/254 Orphanet:459348 MONDO:0018727 immunodeficiency due to a complement regulatory deficiency An instance of rare vascular tumor that is caused by a modification of the individual's genome. Orphanet:459543 UMLS:CN242080 genetic rare vascular tumor rare genetic vascular tumor MONDO:0018729 genetic vascular tumor https://github.com/monarch-initiative/mondo/issues/254 Orphanet:459787 MONDO:0018731 lethal multiple congenital anomalies/dysmorphic syndrome A benign neoplasm that involves the metanephros. ICD10:D30.0 Orphanet:464359 UMLS:CN242075 MONDO:0018738 benign metanephric tumour An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. Orphanet:466084 UMLS:CN242186 genetic otorhinolaryngologic disease MONDO:0018751 genetic otorhinolaryngologic disease Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. ICD10:E23.0 Orphanet:467 congenital combined pituitary hormone deficiency congenital hypopituitarism MONDO:0018762 non-acquired combined pituitary hormone deficiency Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. DOID:0050592 GARD:0003049 ICD10:Q77.2 MESH:C537571 MedDRA:10057621 NCIT:C84794 OMIMPS:208500 Orphanet:474 SCTID:75049004 UMLS:C0265275 JATD Jeune asphyxiating thoracic dystrophy Jeune syndrome asphyxiating thoracic dystrophy of the newborn short-rib thoracic dysplasia short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy ATD Chondroectodermal dysplasia-like syndrome Jeune's syndrome asphyxiating thoracic dystrophy infantile thoracic dystrophy MONDO:0018770 Jeune syndrome Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. DOID:0050777 GARD:0006802 ICD10:Q04.3 NCIT:C74996 OMIMPS:213300 Orphanet:475 SCTID:716997004 CPD IV JBTS Joubert syndrome type A Joubert-Boltshauser syndrome cerebelloparenchymal disorder IV classic Joubert syndrome pure Joubert syndrome cerebellar vermis agenesis MONDO:0018772 Joubert syndrome DOID:0050543 Orphanet:476123 UMLS:CN776860 Charcot-Marie-Tooth disease intermediate type Intermediate hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease dominant intermediate Charcot-Marie-Tooth disease recessive intermediate MONDO:0018778 intermediate Charcot-Marie-Tooth disease Orphanet:477647 MONDO:0018782 type 1 interferonopathy Orphanet:477754 UMLS:CN776941 MONDO:0018787 genetic cerebral small vessel disease Orphanet:477759 UMLS:CN776854 COL4A1 or COL4A2-related cerebral angiopathy MONDO:0018788 COL4A1 or COL4A2-related cerebral small vessel disease Orphanet:477765 UMLS:CN776855 COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy MONDO:0018790 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy Orphanet:477794 UMLS:CN776900 MONDO:0018795 syndromic constitutional thrombocytopenia Orphanet:477808 UMLS:CN776936 MONDO:0018798 Editor note: consider obsoleting other genetic dermis disorder Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever. GARD:0005425 HP:0012618 ICD10:Q64.4 MESH:D014496 MedDRA:10065375 NCIT:C85216 Orphanet:488 SCTID:17234001 urachal cyst MONDO:0018844 urachal cyst (disease) Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease. DOID:865 EFO:0006803 GARD:0009565 MESH:D014657 MedDRA:10036023 MedDRA:10047115 NCIT:C26912 Orphanet:52759 SCTID:31996006 UMLS:C0042384 Wikipedia:Vasculitis systemic vasculitis angiitis MONDO:0018882 vasculitis Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP. COHD:4301602 DOID:10772 ICD10:M31.1 MESH:D011697 MedDRA:10043648 NCIT:C78797 Orphanet:54057 SCTID:78129009 UMLS:C0034155 Moschcowitz disease Moschcowitz's syndrome Moschowitz disease TTP MONDO:0018896 thrombotic thrombocytopenic purpura Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN) or secondary (associated with infectious and immune complex diseases) causes. COHD:433257 GARD:0011982 ICD10:N00.5 ICD9:583.2 MedDRA:10018370 NCIT:C34644 Orphanet:54370 SCTID:80321008 UMLS:C0017662 MPGN Mesangiocapillary glomerulonephritis membranoproliferative glomerulonephritis MONDO:0018904 primary membranoproliferative glomerulonephritis MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. DOID:0050524 GARD:0003697 HP:0004904 ICD10:E11.8 ICD10:E11.9 KEGG:04950 MESH:C562772 NCIT:C114769 OMIM:606391 Orphanet:552 SCTID:609561005 UMLS:C0342276 MODY Mason-type diabetes maturity onset diabetes of the young maturity-onset diabetes of the young Mason type diabetes MONDO:0018911 maturity-onset diabetes of the young (disease) Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. hypercortisolism EFO:0003099 GARD:0006224 ICD10:E24 ICD10:E24.0 ICD10:E24.1 ICD10:E24.2 ICD10:E24.3 ICD10:E24.4 ICD10:E24.8 ICD10:E24.9 ICD9:255.0 MESH:D003480 MedDRA:10011652 MedDRA:10020562 MedDRA:10020564 MedDRA:10020610 NCIT:C2969 Orphanet:553 UMLS:C0010481 Cushing syndrome Cushing's syndrome cortisol Excess hyperadrenocorticism pituitary basophilism suprarenogenic syndrome adrenal hyperfunction resulting from pituitary ACTH excess ectopic adrenocorticotropic hormone syndrome nodular primary adrenocortical dysplasia MONDO:0018912 Editor mote: DOID merged this into primary hyperaldosteronism but we believe this to be wrong. Update: fixed https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/525; consider adding subclass for inherited form Cushing syndrome Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. DOID:0050778 GARD:0003436 ICD10:Q61.9 ICD9:753.1 ICD9:753.10 ICD9:759.89 NCIT:C98978 OMIMPS:249000 Orphanet:564 SCTID:29076005 UMLS:C0265215 Meckel-Gruber syndrome MONDO:0018921 Meckel syndrome 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. GARD:0010299 ICD10:D82.1 MedDRA:10012979 MedDRA:10066430 Orphanet:567 22q11DS Cayler cardiofacial syndrome DiGeorge sequence DiGeorge syndrome Sedlackova syndrome Shprintzen syndrome Takao syndrome catch 22 conotruncal anomaly face syndrome microdeletion 22q11.2 monosomy 22q11 VCFS velocardiofacial syndrome MONDO:0018923 22q11.2 deletion syndrome Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. GARD:0000219 GARD:0001492 ICD10:Q62.2 Orphanet:617 SCTID:717459000 congenital primary megalo-ureter CGM congenital giant megaureter congenital megalo-ureter MONDO:0018960 congenital primary megaureter https://rarediseases.info.nih.gov/diseases/1492/congenital-megalo-ureter https://rarediseases.info.nih.gov/diseases/219/congenital-giant-megaureter Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). ICD10:E72.1 Orphanet:622 SCTID:721225009 UMLS:C4303479 functional methionine synthase deficiency homocystinuria without methylmalonic aciduria methylcobalamin deficiency MONDO:0018964 homocystinuria without methylmalonic aciduria A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. DOID:10983 ICD10:Q87.8 ICD10:Q87.81 MedDRA:10001843 NCIT:C34842 OMIMPS:301050 Orphanet:63 UMLS:C1567741 Alport deafness-nephropathy Alport's syndrome hereditary nephritis MONDO:0018965 Alport syndrome Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. COHD:377252 DOID:0111253 GARD:0007866 ICD10:Q85.0 ICD9:237.71 MESH:D009456 MedDRA:10047712 NCIT:C3273 OMIM:162200 Orphanet:636 SCTID:92824003 UMLS:C0027831 NF1 Von Recklinghausen disease neurofibromatosis neurofibromatosis 1 neurofibromatosis type 1 neurofibromatosis type 1 microdeletion syndrome neurofibromatosis, type 1 peripheral neurofibromatosis von Reklinghausen disease Recklinghausen's disease neurofibromatosis, peripheral type neurofibromatosis, type I type 1 neurofibromatosis MONDO:0018975 neurofibromatosis type 1 Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. DOID:3490 GARD:0010955 ICD10:Q87.1 ICD9:759.89 MESH:D009634 MedDRA:10029748 NCIT:C34854 OMIMPS:163950 Orphanet:648 SCTID:205824006 UMLS:C0028326 Noonan syndrome Noonan's syndrome Turner's phenotype, karyotype normal Noonan-Ehmke syndrome Ullrich-Noonan syndrome pseudo-Ullrich-Turner syndrome MONDO:0018997 Noonan syndrome LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. ICD10:E78.6 Orphanet:650 SCTID:49227001 lecithin-cholesterol acyltransferase deficiency MONDO:0018999 LCAT deficiency An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. Wilms tumor DC:0000457 DOID:2154 DOID:5176 ICD10:C64 ICDO:8960/3 MedDRA:10029145 NCIT:C40407 ONCOTREE:WT Orphanet:654 SCTID:302849000 UMLS:C0027708 Nonanaplastic renal Wilm's tumor Wilms tumor of the kidney Wilms' tumor Wilms' tumor of the kidney adult nephroblastoma adult renal Wilms' tumor embryonal nephroma kidney Wilms tumor nephroblastoma nephroblastoma, malignant renal Wilms tumor renal Wilms' tumor renal embryonic tumor childhood renal Wilms tumor childhood renal Wilms' cancer nonanaplastic renal Wilms tumor MONDO:0019004 kidney Wilms tumor Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. DOID:12712 GARD:0000206 HP:0000090 ICD10:Q61.5 NCIT:C123200 OMIMPS:256100 Orphanet:655 UMLS:C0687120 UMLS:C2939174 medullary cystic disease medullary cystic kidney nephronophthisis MONDO:0019005 nephronophthisis (disease) Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset. ICD10:N04.1 ICD10:N04.3 ICD10:N04.8 Orphanet:656 SCTID:718141008 UMLS:C1868672 UMLS:C4273714 UMLS:CN536255 familial idiopathic nephrotic syndrome MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. ICD10:Q78.2 NCIT:C129733 OMIMPS:259700 Orphanet:667 SCTID:367489004 OPTB autosomal recessive malignant osteopetrosis autosomal recessive osteopetrosis autosomal recessive osteopetrosis (disease) infantile malignant osteopetrosis osteopetrosis (disease), autosomal recessive malignant osteopetrosis MONDO:0019026 autosomal recessive osteopetrosis Orphanet:68329 UMLS:CN205523 rare maxillofacial anomaly MONDO:0019038 rare maxillo-facial surgical disease https://github.com/monarch-initiative/mondo/issues/254 Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) DOID:0080014 ICD9:758.89 MESH:D025063 NCIT:C34470 Orphanet:68335 SCTID:409709004 chromosomal anomaly chromosomal disease autosomal chromosome disorder autosomal chromosome disorders chromosomal disorder chromosomal disorders chromosome Abnormality disorder chromosome Abnormality disorders chromosome disorder chromosome disorder, autosomal chromosome disorders, autosomal disorder, chromosomal disorder, chromosome disorder, chromosome Abnormality disorders, chromosomal disorders, chromosome MONDO:0019040 chromosomal anomaly Orphanet:68341 MCAHS MONDO:0019042 multiple congenital anomalies/dysmorphic syndrome Orphanet:68347 UMLS:CN205528 MONDO:0019044 tumor of hematopoietic and lymphoid tissues Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. COHD:374912 DOID:0050987 DOID:0060786 DOID:10579 GARD:0006895 ICD10:E75.2 ICD9:330.0 MedDRA:10024381 NCIT:C61253 OMIMPS:312080 Orphanet:68356 SCTID:192781003 UMLS:C0023520 UMLS:CN228461 HLD hypomyelinating leukodystrophy hypomyelinating leukoencephalopathy leukodystrophy, hypomyelinating MONDO:0019046 Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' leukodystrophy https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. COHD:432868 DOID:2860 GARD:0012455 ICD10:D56.0 ICD10:D56.1 ICD10:D56.2 ICD10:D56.3 ICD10:D56.4 ICD10:D56.8 ICD10:D56.9 ICD10:D57.0 ICD10:D57.1 ICD10:D57.2 ICD10:D57.3 ICD10:D57.8 ICD10:D58.0 ICD10:D58.1 ICD10:D58.2 ICD10:D58.8 ICD10:D58.9 ICD9:282.7 MESH:D006453 MedDRA:10060892 NCIT:C3092 Orphanet:68364 SCTID:427306008 UMLS:C0019045 UMLS:C1960031 Hemoglobinopathies / iron metabolism hemoglobinopathies hereditary hemoglobinopathy hemoglobinopathy MONDO:0019050 inherited hemoglobinopathy Rare inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. DOID:655 MESH:D008661 MedDRA:10058097 MedDRA:10062018 NCIT:C34816 Orphanet:68367 SCTID:86095007 UMLS:C0025521 congenital metabolic disorder congenital metabolism disorder hereditary metabolic disease inborn error of metabolism inborn errors of metabolism inborn metabolism disorder inherited metabolic disorder metabolic hereditary disorder rare inborn errors of metabolism rare inherited metabolic disorder rare metabolic disease MONDO:0019052 inborn errors of metabolism A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. COHD:441268 DOID:906 ICD10:E71.5 ICD10:E71.50 ICD9:277.86 ICD9:277.89 NCIT:C85005 Orphanet:68373 SCTID:238059005 UMLS:C0282528 disorder of peroxisomal function peroxisomal disorder peroxisomal function disorder MONDO:0019053 peroxisomal disease Orphanet:68378 MONDO:0019054 congenital limb malformation Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions DOID:440 EFO:1001902 ICD10:G70.9 ICD9:358 ICD9:358.9 MESH:D009468 MedDRA:10029323 Orphanet:68381 UMLS:C0027868 neuromuscular disease MONDO:0019056 neuromuscular disease Orphanet:68385 UMLS:CN205539 MONDO:0019058 neurometabolic disease A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. GARD:0013223 NCIT:C9343 ONCOTREE:BONE Orphanet:68411 bone neoplasm bone neoplasms bone tissue neoplasm bone tissue tumor bone tumor bone tumors neoplasm of bone neoplasm of bone tissue neoplasm of the bone osseous neoplasm osseous tumor tumor of bone tumor of bone tissue tumor of the bone primary bone cancer primary malignant neoplasm of bone rare bone tumor MONDO:0019060 bone neoplasm Orphanet:68415 UMLS:CN205542 MONDO:0019061 rare parathyroid disease and phosphocalcic metabolism anomaly https://github.com/monarch-initiative/mondo/issues/254 Orphanet:68419 vascular anomaly or angioma MONDO:0019063 Editor note: the original ORDO class name is 'vascular anomaly or angioma' but it is implicitly congenital due to its superclasses. TODO revise after https://github.com/Orphanet/ORDO/issues/2 vascular anomaly Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. spastic paraplegia COHD:192901 DOID:2476 GARD:0006637 ICD10:G11.4 ICD9:334.1 MESH:D015419 MedDRA:10019903 NCIT:C140267 OMIMPS:303350 Orphanet:685 SCTID:39912006 French settlement disease HSP SPG Strumpell-Lorrain disease Strümpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis FSP familial spastic paraparesis MONDO:0019064 hereditary spastic paraplegia https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. COHD:432595 DOID:9120 EFO:1001875 HP:0011034 ICD10:E85 ICD10:E85.0 ICD10:E85.1 ICD10:E85.2 ICD10:E85.3 ICD10:E85.4 ICD10:E85.8 ICD10:E85.9 ICD9:277.3 ICD9:277.30 MESH:D000686 MedDRA:10002022 NCIT:C2868 ONCOTREE:MIDDA Orphanet:69 SCTID:17602002 UMLS:C0002726 amyloid amyloid disease amyloidoses amyloidosis amyloidosis (disease) MONDO:0019065 Editor note: in DO this is classified as acquired metabolic, but contains familial subtypes amyloidosis (disease) Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. ICD10:Q73.8 Orphanet:69028 UMLS:CN205546 dysostosis with brachydactyly MONDO:0019066 syndrome with brachydactyly Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits. ICD10:N04.0 Orphanet:69061 MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life. ICD10:P96.0 Orphanet:69063 SCTID:725592009 UMLS:C4511239 FMAIG alloimmune neonatal renal disease fetomaternal alloimmunization with antenatal glomerulopathies neonatal glomerulopathy due to Neprilysin alloimmunization neonatal glomerulopathy due to neprilysin alloimmunization neonatal membranous glomerulopathy with maternal NEP deficiency neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency MONDO:0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization DOID:0111360 GARD:0002492 MESH:C536825 OMIM:137940 UMLS:CN205563 hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome hypotrichosis-lymphedema-telangiectasia-renal defect syndrome HLTRS glomerulonephritis with sparse hair and telangiectases telangiectatic membranoproliferative glomerulonephritis MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome A hemorrhagic disorder due to a platelet anomaly which occurs from birth. ICD10:D69.1 Orphanet:71202 UMLS:CN227572 rare bleeding disorder due to a constitutional platelet anomaly rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia rare coagulopathy due to a constitutional platelet anomaly rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia rare hemorrhagic disorder due to a constitutional platelet anomaly rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia MONDO:0019097 hemorrhagic disorder due to a constitutional platelet anomaly https://github.com/monarch-initiative/mondo/issues/254 An autoimmune form of thrombocytopenia. ICD10:D69.3 MedDRA:10050245 Orphanet:71203 SCTID:128091003 UMLS:C0242584 MONDO:0019098 autoimmune thrombocytopenia 1 mmHg). The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided haematuria. EFO:1001838 GARD:0011971 MESH:D059228 Orphanet:71273 SCTID:717267005 UMLS:C3178770 RNS left renal vein entrapment syndrome nutcracker syndrome MONDO:0019105 renal nutcracker syndrome An instance of nervous system disease that is caused by a modification of the individual's genome. Orphanet:71859 UMLS:CN205639 genetic nervous system disorder genetic neurological disorder rare genetic neurological disorder MONDO:0019117 genetic nervous system disorder An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. fundus dystrophy COHD:377270 COHD:380395 DOID:8500 DOID:8501 HP:0000556 ICD10:H35.5 ICD10:H35.50 ICD9:362.7 ICD9:362.70 ICD9:362.72 ICD9:362.75 MESH:D058499 MedDRA:10038857 NCIT:C35194 NCIT:C35625 Orphanet:71862 SCTID:314407005 SCTID:41799005 UMLS:C0154860 UMLS:C0854723 familial retinal dystrophy genetic retinal dystrophy hereditary retinal degeneration hereditary retinal dystrophy retinal dystrophy MONDO:0019118 Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same inherited retinal dystrophy Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs. EFO:1000784 GARD:0003652 ICD10:M31.7 MESH:D055953 MedDRA:10063344 NCIT:C70549 Orphanet:727 SCTID:239928004 UMLS:C2347126 MPA Micropolyangiitis microscopic polyarteritis MONDO:0019124 microscopic polyangiitis https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement. DOID:2556 EFO:1001148 GARD:0007417 ICD10:M94.1 ICD9:733.99 MESH:D011081 MedDRA:10038304 NCIT:C157268 Orphanet:728 SCTID:72275000 UMLS:C0032453 chondromalacia, systemic chronic atrophic polychondritis recurrent polychondritis MONDO:0019125 relapsing polychondritis https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes. COHD:80800 EFO:0003063 GARD:0007425 ICD10:M33.2 ICD9:710.4 MESH:D017285 MedDRA:10036102 NCIT:C26925 Orphanet:732 SCTID:31384009 UMLS:C0085655 Wikipedia:Polymyositis PM polymyositis MONDO:0019127 polymyositis MESH:C537371 Orphanet:73217 SCTID:253828000 Mullerian duct failure Müllerian duct failure aplasia of the Mullerian ducts aplasia of the Müllerian ducts Müllerian aplasia MONDO:0019128 mullerian aplasia Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration. ICD10:N25.8 ICD9:275.8 NCIT:C123251 Orphanet:756 SCTID:43941006 UMLS:C0268436 PHA type 1 PHA1B pseudohypoaldosteronism type I autosomal recessive MONDO:0019161 pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function. GARD:0004553 ICD10:I15.1 ICD9:588.89 NCIT:C123252 OMIMPS:145260 Orphanet:757 SCTID:15689008 UMLS:C1449844 Gordon hyperkalemia-hypertension syndrome Gordon syndrome PHA2 PHAII Spitzer-Weinstein syndrome chloride shunt syndrome familial hyperkalemic hypertension hyperkalemia-hypertension syndrome, Gordon type hypertensive hyperkalemia mineralocorticoid resistant hyperkalemia pseudohypoaldosteronism, type 2 pseudohypoaldosteronism, type II hyperpotassemia and hypertension familial MONDO:0019162 pseudohypoaldosteronism type 2 SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. GARD:0008204 ICD10:D69.0 Orphanet:761 SCTID:86074002 Henoch-SchC6nlein purpura IgA vasculitis anaphylactoid purpura purpura rheumatica rheumatoid purpura Henoch Schonlein purpura purpura, Schonlein-Henoch vascular purpura MONDO:0019167 immunoglobulin a vasculitis Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia). DOID:12271 GARD:0005816 ICD10:Q13.1 ICD9:743.45 MESH:D015783 MedDRA:10002532 NCIT:C84563 Orphanet:77 SCTID:69278003 UMLS:C0003076 aplasia of iris MONDO:0019172 aniridia https://rarediseases.info.nih.gov/diseases/5816/aniridia A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection. ICD10:I89.0 NCIT:C48829 Orphanet:77240 Troncular lymphatic malformation primary lymphedema MONDO:0019175 primary lymphedema ICD10:E66.8 OMIM:601665 Orphanet:77828 genetic obesity genetic obesity (disease) MONDO:0019182 We place OMIM:601665 here, although this includes monogenic obesity Orphanet:77830 UMLS:CN205756 MONDO:0019183 inherited odontologic disease https://github.com/monarch-initiative/mondo/issues/254 Rubinstein-Taybi syndrome is a rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. DOID:1933 GARD:0007593 ICD10:Q87.2 ICD9:759.89 MESH:D012415 MedDRA:10039281 NCIT:C75466 OMIMPS:180849 Orphanet:783 SCTID:45582004 UMLS:C0035934 Broad thumb-hallux syndrome Broad thumbs-halluces syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome RSTS MONDO:0019188 Rubinstein-Taybi syndrome ICD9:270.8 Orphanet:79062 SCTID:237911005 UMLS:C0342666 disorder of amino acid and organic acid metabolism disorder of amino acid and other organic acid metabolism MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. DOID:10584 GARD:0005694 ICD10:H35.5 ICD10:H35.52 MESH:D012174 MedDRA:10038914 NCIT:C85045 OMIM:268000 OMIMPS:268000 Orphanet:791 SCTID:28835009 UMLS:C0035334 UMLS:C4072872 pericentral pigmentary retinopathy Rod-cone dystrophy MONDO:0019200 retinitis pigmentosa A inherited organic acidemia that involves the brain. Orphanet:79158 brain inherited organic acidemia inherited organic acidemia of brain MONDO:0019213 cerebral organic aciduria An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. DOID:2978 EFO:1000061 ICD9:271.8 MESH:D002239 MedDRA:10061023 NCIT:C97089 Orphanet:79161 carbohydrate metabolism disorder disorder of carbohydrate transport and metabolism inborn carbohydrate metabolic process disorder inborn carbohydrate metabolism disorder inborn error of carbohydrate metabolic process inborn errors of carbohydrate metabolism rare inborn error of carbohydrate metabolic process carbohydrate metabolic disorder disorder of carbohydrate metabolism MONDO:0019214 inborn carbohydrate metabolic disorder Orphanet:79163 MONDO:0019215 classic organic aciduria ICD10:E72.0 ICD9:270.0 Orphanet:79166 SCTID:16784003 UMLS:C0268641 disorder of amino acid absorption and transport disorder of amino acid transport MONDO:0019216 Editor note: consider changing to transport inborn disorder of amino acid absorption and transport Orphanet:79171 UMLS:CN043592 UMLS:CN227587 disorder of cobalamin metabolism and transport MONDO:0019220 inborn disorder of cobalamin metabolism and transport An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process. ICD10:E72.1 ICD9:270.4 Orphanet:79173 SCTID:28882002 UMLS:CN227589 cytosolic methyl group transfer or sulfur amino acid metabolism disorder inborn error of sulfur amino acid metabolic process inborn sulfur amino acid metabolic process disorder rare inborn error of sulfur amino acid metabolic process disorder of methionine cycle and sulfur amino acid metabolism MONDO:0019222 Editor note: check this inborn disorder of methionine cycle and sulfur amino acid metabolism An acquired metabolic disease that is has its basis in the disruption of glucose transport. ICD10:E74.8 Orphanet:79178 UMLS:CN227593 inborn error of glucose transport rare inborn error of glucose transport MONDO:0019226 glucose transport disorder Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). DOID:0080377 GARD:0009473 GARD:0011890 MESH:C531857 MESH:C536664 NCIT:C146639 OMIMPS:214100 Orphanet:79189 SCTID:742876007 PBD, ZSS PBD-ZSD ZSD Zellweger spectrum Zellweger spectrum disorder Zellweger syndrome spectrum peroxisome biogenesis disorder spectrum peroxisome biogenesis disorders, Zellweger syndrome spectrum cerebrohepatorenal syndrome PBD-ZSS PBD-Zellweger spectrum disorder Zellweger spectrum disorders disorders of peroxisome biogenesis peroxisomal biogenesis disorders peroxisomal biogenesis disorders, Zellweger syndrome spectrum peroxisome biogenesis disorder-Zellweger syndrome spectrum MONDO:0019234 peroxisome biogenesis disorder Orphanet:79190 UMLS:CN227599 disorder of phenylalanin or tyrosine metabolism MONDO:0019235 inborn disorder of phenylalanin or tyrosine metabolism An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. MedDRA:10061476 Orphanet:79191 inborn error of purine nucleobase metabolic process inborn purine nucleobase metabolic process disorder rare inborn error of purine nucleobase metabolic process disorder of purine metabolism MONDO:0019236 inborn disorder of purine metabolism An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process. Orphanet:79195 UMLS:CN227602 inborn error of sterol biosynthetic process inborn sterol biosynthetic process disorder rare inborn error of sterol biosynthetic process MONDO:0019240 sterol biosynthesis disorder An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy. Orphanet:79200 UMLS:CN227604 inborn error of generation of precursor metabolites and energy inborn generation of precursor metabolites and energy disorder rare inborn error of generation of precursor metabolites and energy disorder of energy metabolism MONDO:0019243 inborn disorder of energy metabolism An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. DOID:9455 ICD10:E75.5 ICD10:E75.6 ICD9:272.7 ICD9:272.8 MESH:D008064 Orphanet:79204 SCTID:10741005 UMLS:CN205834 inborn error of lipid storage inborn lipid storage disorder lipid storage disease lipoid storage diseas lipoid storage disease lipoid storage disorder rare inborn error of lipid storage lipidoses lipidosis lipoidoses lipoidosis MONDO:0019245 lysosomal lipid storage disorder Orphanet:79207 UMLS:CN227605 disorder of lysosomal amino acid transport MONDO:0019246 inborn disorder of lysosomal amino acid transport ICD10:E77.1 Orphanet:79215 MONDO:0019251 oligosaccharidosis DOID:653 ICD10:E79.0 ICD10:E79.1 ICD10:E79.8 ICD10:E79.9 ICD9:277.2 MESH:D011686 MedDRA:10037546 Orphanet:79224 UMLS:C0034139 inborn errors of purine-pyrimidine metabolism inborn purine-pyrimidine metabolic disorder disorder of purine or pyrimidine metabolism purine-pyrimidine metabolic disorder MONDO:0019254 inborn disorder of purine or pyrimidine metabolism An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. DOID:1927 GARD:0007672 ICD10:E75.0 ICD10:E75.1 ICD10:E75.2 ICD10:E75.3 MESH:D013106 NCIT:C117254 Orphanet:79225 SCTID:238028008 UMLS:C0037899 sphingolipidoses sphingolipidosis, NOS MONDO:0019255 sphingolipidosis https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process. Orphanet:79226 UMLS:CN227607 inborn error of sterol metabolic process inborn sterol metabolic process disorder rare inborn error of sterol metabolic process MONDO:0019256 sterol metabolism disorder Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. ICD10:E71.1 Orphanet:79312 SCTID:237946002 UMLS:CN205894 partial deficiency of methylmalonyl-CoA mutase vitamin B12-unresponsive methylmalonic aciduria type mut- MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- A skin disease that involves the epidermis. Orphanet:79353 UMLS:CN205920 rare epidermal disease epidermal disease MONDO:0019268 epidermal disease https://github.com/monarch-initiative/mondo/issues/254 Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies. DOID:1697 HP:0008064 MESH:D007057 MedDRA:10021198 NCIT:C84776 Orphanet:79354 UMLS:C0020757 fish scale disease fish skin disease ichthyoses ichthyosis non-syndromic ichthyosis MONDO:0019269 Epidermal keratinocytes undergo a unique form of terminal differentiation and programmed cell death known as cornification. Cornification leads to the formation of the outermost skin barrier, i.e. the cornified layer, as well as to the formation of hair and nails. ichthyosis (disease) https://github.com/monarch-initiative/mondo/pull/2110 Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. ICD10:Q81.0 ICD10:Q81.1 ICD10:Q81.2 ICD10:Q81.8 ICD10:Q81.9 ICD9:757.39 Orphanet:79361 SCTID:402781004 epidermolysis bullosa hereditaria hereditary epidermolysis bullosa MONDO:0019276 inherited epidermolysis bullosa Orphanet:79362 MONDO:0019277 epidermal appendage anomaly A epidermal appendage anomaly that involves the nail. MedDRA:10028684 Orphanet:79368 epidermal appendage anomaly of nail nail epidermal appendage anomaly MONDO:0019283 nail anomaly A nail anomaly that is part of a larger syndrome. Orphanet:79370 UMLS:CN227613 syndrome associated with nail anomaly syndromic nail anomaly MONDO:0019285 syndromic nail anomaly A epidermal appendage anomaly that involves the sebaceous gland. Orphanet:79372 epidermal appendage anomaly of sebaceous gland sebaceous gland epidermal appendage anomaly MONDO:0019286 sebaceous gland anomaly The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. COHD:134757 DOID:2121 GARD:0006317 ICD9:757.31 MESH:D004476 MedDRA:10010452 NCIT:C84683 OMIMPS:305100 Orphanet:79373 SCTID:8654005 UMLS:C0013575 congenital ectodermal defect ectodermal dysplasia ectodermal dysplasia (select examples) MONDO:0019287 ectodermal dysplasia syndrome A pigmentation disease that involves the zone of skin. DOID:10123 EFO:1000755 ICD9:709.09 MESH:D010859 Orphanet:79374 pigmentation anomaly of the skin pigmentation disease of zone of skin zone of skin pigmentation disease pigmentation disease MONDO:0019288 skin pigmentation disease COHD:4172432 EFO:0009047 HP:0000953 ICD9:709.09 Orphanet:79375 SCTID:49765009 MONDO:0019289 hyperpigmentation of the skin Orphanet:79378 UMLS:CN227616 MONDO:0019292 dermis elastic tissue disorder A disease that involves the superficial vasculature. COHD:316501 DOID:9540 ICD9:709.1 MESH:D017445 MedDRA:10062171 NCIT:C35254 Orphanet:79379 SCTID:11263005 UMLS:C0162819 skin vascular disorder superficial vasculature disease vascular disease of the skin vascular skin disease vasculature skin disease disorder of blood vessels affecting skin vascular disorder of skin vascular disorders of skin MONDO:0019293 skin vascular disease Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes. COHD:435839 DOID:4977 GARD:0012563 ICD9:457.1 MESH:D008209 MedDRA:10025282 NCIT:C3207 Orphanet:79383 SCTID:234097001 UMLS:C0024236 lymphatic edema lymphatic edema (morphologic abnormality) lymphoedema lymphoedema NOS MONDO:0019297 lymphedema Orphanet:79387 UMLS:CN205935 MONDO:0019301 metabolic disease with skin involvement Changes in the organism associated with senescence, occurring at an accelerated rate. MESH:D019588 MedDRA:10063493 Orphanet:79389 premature aging MONDO:0019303 premature aging syndrome Orphanet:79390 UMLS:C0920193 rare skin photosensitivity MONDO:0019304 rare photodermatosis https://github.com/monarch-initiative/mondo/issues/254 Milroy disease is a frequent form of primary lymphedema characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period. DOID:0050580 GARD:0007220 ICD10:Q82.0 ICD9:757.0 OMIMPS:153100 Orphanet:79452 SCTID:254199006 SCTID:399889006 Milroy's disease Nonne-Milroy lymphedema congenital primary lymphedema hereditary lymphedema hereditary lymphedema type I lymphedema, hereditary Nonne-Milroy disease Nonne-Milroy syndrome Nonne’s syndrome congenital hereditary lymphedema early onset lymphedema hereditary lymphedema 1 MONDO:0019313 hereditary lymphedema Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). DOID:419 HP:0100324 MedDRA:10039710 NCIT:C26746 Orphanet:801 Scleroderma dermatosclerosis scleroderma MONDO:0019340 scleroderma (disease) Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features. GARD:0000946 GARD:0007830 ICD10:Q85.1 MedDRA:10045138 Orphanet:805 Bourneville syndrome tuberous sclerosis Bourneville's syndrome MONDO:0019341 tuberous sclerosis complex Adult-onset Still disease (AOSD) is a rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. DOID:14256 EFO:0007135 GARD:0000436 ICD10:M06.1 ICD9:714.2 ICD9:759.89 MESH:D016706 MedDRA:10058493 MedDRA:10064056 Orphanet:829 SCTID:239920006 SCTID:68190001 UMLS:C0085253 UMLS:CN206037 AOSD Wissler-Fanconi syndrome adult onset Still's disease adult-onset Still disease adult-onset Still's disease Still's disease adult onset adult Still's disease MONDO:0019355 Editor note: check if autoimmune adult-onset Still disease https://rarediseases.info.nih.gov/diseases/436/adult-onset-stills-disease Orphanet:83001 MONDO:0019356 urogenital tract malformation Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. DOID:13636 GARD:0006425 ICD10:D61.0 ICD10:D61.09 ICD9:284.09 MESH:D005199 MedDRA:10055206 NCIT:C62505 OMIMPS:227650 Orphanet:84 SCTID:30575002 UMLS:C0015625 Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anemia Panmyelopathy, Fanconi pancytopenia, congenital primary erythroid hypoplasia MONDO:0019391 Fanconi anemia Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. Orphanet:84081 SCTID:717187000 UMLS:CN206093 Boichis disease nephronophthisis-hepatic fibrosis syndrome MONDO:0019394 Senior-Boichis syndrome Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed. ICD10:N07.6 ICD9:583.89 Orphanet:84087 SCTID:708127008 UMLS:C3872695 UMLS:CN206095 Collagenofibrotic glomerulopathy MONDO:0019396 collagen type III glomerulopathy Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. ICD10:N04.1 ICD10:N04.3 ICD10:N04.8 Orphanet:84271 SCTID:717191005 UMLS:C4274017 sporadic idiopathic nephrosis MONDO:0019401 sporadic idiopathic steroid-resistant nephrotic syndrome Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). COHD:4278669 DOID:12241 GARD:0000871 ICD10:D56.1 ICD9:282.44 ICD9:282.49 MESH:D017086 MedDRA:10043391 NCIT:C34375 Orphanet:848 SCTID:65959000 Beta thalassemia intermedia Beta thalassemia minor Thalassemias, beta- erythroblastic anemia thalassemia major thalassemia, Hispanic gamma-delta-beta MONDO:0019402 beta thalassemia AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ. GARD:0005797 ICD10:E85.9 MESH:C531616 MedDRA:10036673 Orphanet:85443 UMLS:C0268381 Light-chain amyloidosis primary amyloidosis Light chain amyloidosis amyloidosis AL amyloidosis primary systemic primary AL amyloidosis primary amyloidosis (formerly) primary systemic AL amyloidosis primary systemic amyloidosis systemic AL amyloidsis MONDO:0019438 AL amyloidosis Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement. GARD:0010560 ICD10:E85.3 ICD9:277.39 MedDRA:10039811 NCIT:C3818 Orphanet:85445 SCTID:281034005 UMLS:C0221014 UMLS:C3536715 inflammatory amyloidosis reactive amyloidosis secondary amyloidosis amyloid A amyloidosis amyloidosis AA MONDO:0019439 AA amyloidosis https://rarediseases.info.nih.gov/diseases/10560/amyloidosis-aa ICD10:D89.8 Orphanet:86861 UMLS:CN206242 Randall disease non-amyloid MIDD MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). COHD:434300 DOID:169 EFO:1001901 ICD10:D3A.8 ICD9:209 ICD9:209-209.99 ICD9:239.7 MESH:D018358 NCIT:C3809 Orphanet:877 SCTID:255046005 UMLS:C0003650 UMLS:C0206754 UMLS:CN206284 APUDoma neuroendocrine neoplasm neuroendocrine tumor MONDO:0019496 Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass neuroendocrine neoplasm Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. COHD:4307885 DOID:3491 GARD:0002458 GARD:0002459 GARD:0002540 GARD:0007831 ICD10:Q96 ICD10:Q96.0 ICD10:Q96.1 ICD10:Q96.2 ICD10:Q96.3 ICD10:Q96.4 ICD10:Q96.8 ICD10:Q96.9 ICD9:758.7 MESH:D014424 MedDRA:10045181 NCIT:C26900 Orphanet:881 SCTID:38804009 UMLS:C0041408 45,X gonadal dysgenesis 45,X syndrome 45,X/46,XX syndrome 45,X0 syndrome 45X syndrome Bonnevie-Ullrich syndrome XO syndrome gonadal dysgenesis gonadal dysgenesis - Turner karyotype 45, X monosomy X monosomy X syndrome 45, X syndrome Bonnevie-Ulrich syndrome Schereshevkii Turner syndrome Turner Varny syndrome Ullrich-Turner syndrome chromosome X monosomy X genital dwarfism genital dwarfism, Turner type gonadal dysgenesis (45,X) gonadal dysgenesis Turner type MONDO:0019499 Editor note: consider splitting BU syndrome Turner syndrome https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis). DC:0000735 GARD:0010025 ICD10:Q13.8 ICD9:743.49 OMIMPS:107250 Orphanet:88632 SCTID:65075004 ASGD ASMD ASOD anterior segment mesenchymal dysgenesis anterior segment ocular dysgenesis familial ocular anterior segment mesenchymal dysgenesis FOXE3-related ocular disorder MONDO:0019503 anterior segment dysgenesis Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. CSP:0828-0533 DOID:2187 GARD:0005791 ICD10:K00.5 ICD9:520.5 MESH:D000567 OMIMPS:104500 Orphanet:88661 SCTID:78494001 MONDO:0019507 amelogenesis imperfecta https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout. GARD:0010679 ICD10:Q61.5 Orphanet:88950 UMLS:CN206322 ADTKD-UMOD UMOD-related ADTKD autosomal dominant medullary cystic kidney disease type 2 ADMCKD2 UMOD-related autosomal dominant tubulointerstitial kidney disease MONDO:0019511 autosomal dominant medullary cystic kidney disease with hyperuricemia A disease that has its basis in the disruption of heart development. EFO:0005269 Orphanet:88991 congenital heart malformation disorder of heart development heart development disease congenital non-syndromic heart malformation rare congenital non-syndromic heart malformation MONDO:0019512 congenital heart malformation Orphanet:88993 MONDO:0019513 esophageal malformation A lymphedema that is part of a larger syndrome. Orphanet:89832 UMLS:CN227645 syndrome associated with lymphedema syndromic lymphedema MONDO:0019520 syndromic lymphedema Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II. GARD:0010508 ICD10:E26.8 Orphanet:89938 SCTID:700112007 UMLS:C3838860 UMLS:CN206343 Bartter syndrome type 4 Bartter syndrome type IV Bartter syndrome with sensorineural deafness MONDO:0019524 infantile Bartter syndrome with sensorineural deafness Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli. GARD:0006241 ICD10:D59.3 Orphanet:90038 UMLS:CN206363 D+HUS Shiga-like toxin-associated HUS Sxt-HUS hemolytic-uremic syndrome with diarrhea typical HUS D-plus hemolytic uremic syndrome (D+HUS) MONDO:0019536 typical hemolytic-uremic syndrome https://rarediseases.info.nih.gov/diseases/6241/d-plus-hemolytic-uremic-syndrome-dhus Autosomal dominant form of intermediate Charcot-Marie-Tooth disease. GARD:0012436 ICD10:G60.0 Orphanet:90114 UMLS:CN206376 CMTDI autosomal dominant intermediate Charcot-Marie-Tooth disease intermediate Charcot-Marie-Tooth disease, autosomal dominant autosomal dominant intermediate Charcot-Marie-Tooth MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia. lcSSc COHD:4135937 DOID:0060218 GARD:0012430 ICD10:M34.1 MESH:D017675 MedDRA:10011380 NCIT:C70646 Orphanet:90290 SCTID:31848007 UMLS:C0206138 calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome limited cutaneous Systemic Scleroderma limited cutaneous Systemic sclerosis CRST syndrome CRST syndromes calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia calcinosis Raynaud phenomenon sclerodactyly telangiectasia calcinosis, Raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud syndrome, CREST MONDO:0019563 CREST syndrome ICD10:H90.3 Orphanet:90642 SCTID:232333009 UMLS:CN206426 syndromic hearing loss MONDO:0019589 syndromic genetic deafness Orphanet:90692 UMLS:CN206437 MONDO:0019590 rare endocrine growth disease https://github.com/monarch-initiative/mondo/issues/254 Orphanet:90783 UMLS:CN227656 46,XY DSD due to a testosterone synthesis defect MONDO:0019594 46,XY disorder of sex development due to a testosterone synthesis defect Orphanet:91088 UMLS:CN206450 other metabolic disease MONDO:0019602 other inborn metabolic disease Fanconi syndrome (FS) is a generalized disorder of renal proximal tubule function. In adults over 50 years of age, FS is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. ICD10:E72.0 Orphanet:91136 SCTID:724099000 UMLS:C4510369 UMLS:CN206457 acquired Fanconi syndrome secondary to monoclonal gammopathy acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG. GARD:0012741 ICD10:N03.6 Orphanet:91137 Immunotactoid or fibrillary glomerulonephritis fibrillary glomerulonephritis and immunotactoid glomerulopathy MONDO:0019605 immunotactoid or fibrillary glomerulopathy https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. ZS DOID:905 GARD:0007917 ICD10:E71.510 ICD10:Q87.8 MESH:D015211 NCIT:C85239 Orphanet:912 SCTID:88469006 UMLS:C0043459 cerebrohepatorenal syndrome congenital iron overload peroxisome biogenesis disorder ZWS Zellweger leukodystrophy MONDO:0019609 Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 Zellweger syndrome Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter. ICD10:Q60.0 MedDRA:10053624 NCIT:C101220 Orphanet:93100 UMLS:C0266294 congenital single kidney congenital solitary kidney unilateral renal agenesis MONDO:0019636 renal agenesis, unilateral Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied. DOID:0080204 HP:0000089 ICD10:Q60.3 ICD10:Q60.4 ICD10:Q60.5 MedDRA:10049102 Orphanet:93101 SCTID:32659003 renal hypoplasia MONDO:0019637 renal hypoplasia (disease) Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. COHD:201111 HP:0000110 ICD10:Q61.4 Orphanet:93108 renal dysplasia MONDO:0019638 renal dysplasia (disease) Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection. ICD10:Q63.8 ICD9:753.3 Orphanet:93109 SCTID:85901000 MONDO:0019639 congenital megacalycosis Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying. GARD:0007439 ICD10:Q64.2 ICD9:753.8 MedDRA:10036369 NCIT:C99021 Orphanet:93110 SCTID:253900005 UMLS:C0238506 UMLS:CN227669 PUV congenital posterior urethral valves Posterior urethral valves MONDO:0019640 posterior urethral valve Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA. ICD10:N05.7 Orphanet:93126 MONDO:0019641 pauci-immune glomerulonephritis Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. ICD10:N15.8 Orphanet:93164 SCTID:717263009 UMLS:C4273962 UMLS:CN776908 TPHA MONDO:0019643 transient pseudohypoaldosteronism Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. HP:0008718 ICD10:Q61.4 Orphanet:93172 unilateral renal dysplasia MONDO:0019644 renal dysplasia, unilateral Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. HP:0012582 ICD10:Q61.4 Orphanet:93173 SCTID:204950001 bilateral renal dysplasia MONDO:0019645 renal dysplasia, bilateral ICD10:Q63.8 Orphanet:93176 MONDO:0019646 unilateral congenital megacalycosis ICD10:Q63.8 Orphanet:93177 MONDO:0019647 congenital bilateral megacalycosis ICD10:N04.1 Orphanet:93206 UMLS:CN206521 idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis MONDO:0019649 idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis ICD10:N04.0 Orphanet:93207 UMLS:CN206522 steroid-sensitive MCNS MONDO:0019650 idiopathic steroid-sensitive nephrotic syndrome with minimal change ICD10:N04.3 Orphanet:93209 UMLS:CN206523 MONDO:0019651 idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation ICD10:N04.3 Orphanet:93214 UMLS:CN206525 MONDO:0019652 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation ICD10:N04.0 Orphanet:93216 UMLS:CN206526 MONDO:0019653 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes ICD10:N04.8 Orphanet:93217 UMLS:CN206527 MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis ICD10:N04.1 Orphanet:93218 UMLS:CN206528 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis MONDO:0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis ICD10:N04.8 Orphanet:93220 UMLS:CN206529 MONDO:0019656 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis GARD:0004833 ICD10:Q77.2 ICD9:756.3 Orphanet:93269 SCTID:72922008 short rib-polydactyly syndrome type 2 SRPS type 2 polydactyly with neonatal chondrodystrophy type 2 short rib-polydactyly syndrome Majewski type MONDO:0019662 short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period. GARD:0004835 ICD10:Q77.2 ICD9:759.89 MESH:C537602 Orphanet:93271 SCTID:254051008 UMLS:C0432197 short rib-polydactyly syndrome type 3 SRPS type 3 Verma Naumoff syndrome polydactyly with neonatal chondrodystrophy type III short rib polydactyly syndrome Verma Naumoff type short rib-polydactyly syndrome type III MONDO:0019664 short rib-polydactyly syndrome, Verma-Naumoff type ICD10:E77.1 Orphanet:93399 SCTID:111383007 UMLS:C0268229 UMLS:CN206605 dysmorphic sialidosis, juvenile form MONDO:0019681 juvenile sialidosis type 2 ICD10:E77.1 Orphanet:93400 MONDO:0019682 congenital sialidosis type 2 ICD10:Q77.2 ICD9:756.3 Orphanet:93426 SCTID:254050009 SRP short-rib dysplasia (with or without polydactyly) ciliopathies with major skeletal involvement MONDO:0019691 short rib dysplasia ICD10:Q74.8 Orphanet:93436 MONDO:0019695 acromelic dysplasia Orphanet:93438 UMLS:CN229208 MONDO:0019697 mesomelic and rhizo-mesomelic dysplasia Orphanet:93444 UMLS:CN043667 primary osteodysplasia with increased bone density primary skeletal dysplasia with increased bone density sclerosing bone dysplasia MONDO:0019703 primary bone dysplasia with increased bone density Orphanet:93447 primary osteodysplasia with defective bone mineralization primary skeletal dysplasia with defective bone mineralization MONDO:0019705 primary bone dysplasia with defective bone mineralization ICD9:756.9 Orphanet:93448 SCTID:254069004 UMLS:CN206618 dysostosis multiplex MONDO:0019706 lysosomal storage disease with skeletal involvement Orphanet:93449 MONDO:0019707 primary osteolysis Orphanet:93455 MONDO:0019712 patellar dysostosis A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome. ICD10:Q87.3 NCIT:C94828 Orphanet:93460 UMLS:C2986703 UMLS:CN206621 MONDO:0019716 overgrowth syndrome Orphanet:93461 UMLS:CN206622 MONDO:0019717 chromosomal disease with overgrowth A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. DOID:0080205 MESH:C566906 OMIMPS:610805 Orphanet:93545 UMLS:C1968949 CAKUT congenital anomalies of kidney and urinary tract congenital anomalies of the kidney and urinary tract renal or urinary tract malformation MONDO:0019719 congenital anomaly of kidney and urinary tract A renal or urinary tract malformation that is not part of a larger syndrome. Orphanet:93546 isolated congenital anomaly of kidney and urinary tract nonsyndromic congenital anomaly of kidney and urinary tract nonsyndromic renal or urinary tract malformation isolated renal or urinary tract malformation MONDO:0019720 non-syndromic renal or urinary tract malformation A renal or urinary tract malformation that is part of a larger syndrome. Orphanet:93547 UMLS:CN227683 syndrome associated with congenital anomaly of kidney and urinary tract syndromic congenital anomaly of kidney and urinary tract syndromic renal or urinary tract malformation MONDO:0019721 syndromic renal or urinary tract malformation A disease involving the renal glomerulus. COHD:4059452 GTR:AN0966176 ICD10:N00.N08 NCIT:C120887 Orphanet:93548 SCTID:197679002 UMLS:CN580795 disease of renal glomerulus disease or disorder of renal glomerulus disorder of renal glomerulus glomerulopathy renal glomerulus disease renal glomerulus disease or disorder glomerulopathies MONDO:0019722 glomerular disease basement membrane disease Orphanet:93550 UMLS:CN206630 MONDO:0019723 disease of glomerular basement membrane Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established Orphanet:93551 UMLS:CN206631 MONDO:0019724 secondary glomerular disease ICD10:M32.0 ICD10:M32.1 ICD10:M32.8 ICD10:M32.9 Orphanet:93552 SLE, pediatric onset MONDO:0019725 pediatric systemic lupus erythematosus Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody). ICD10:D89.1 Orphanet:93554 UMLS:CN206633 MC type II MONDO:0019726 type II mixed cryoglobulinemia Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs. ICD10:D89.1 Orphanet:93555 UMLS:CN206634 MC type III MONDO:0019727 mixed cryoglobulinemia type III ICD10:D89.8 NCIT:C7339 Orphanet:93556 UMLS:C1333947 UMLS:CN206635 HCDD MONDO:0019728 heavy chain deposition disease ICD10:D89.8 Orphanet:93557 UMLS:CN206636 LHCDD MONDO:0019729 light and heavy chain deposition disease Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases. GARD:0006906 ICD10:D89.8 NCIT:C7727 Orphanet:93558 SCTID:373604002 UMLS:C0238239 Bence Jones myeloma LCDD Light chain disease Light chain gammopathy Light-chain deposition disease MONDO:0019730 light chain deposition disease https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease ICD10:E85.0 Orphanet:93560 UMLS:CN206638 apolipoprotein A-I amyloidosis familial amyloid nephropathy due to apolipoprotein A-I variant familial renal amyloidosis due to apolipoprotein A-I variant hereditary amyloid nephropathy due to apolipoprotein A-I variant hereditary renal amyloidosis due to apolipoprotein A-I variant MONDO:0019731 AApoAI amyloidosis ICD10:E85.0 Orphanet:93561 UMLS:CN206639 familial amyloid nephropathy due to lysozyme variant familial renal amyloidosis due to lysozyme variant hereditary amyloid nephropathy due to lysozyme variant hereditary renal amyloidosis due to lysozyme variant lysozyme amyloidosis MONDO:0019732 ALys amyloidosis ICD10:E85.0 Orphanet:93562 UMLS:CN206640 familial amyloid nephropathy due to fibrinogen A alpha-chain variant fibrinogen A alpha-chain amyloidosis hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant hereditary renal amyloidosis due to fibrinogen A alpha-chain variant MONDO:0019733 AFib amyloidosis An idiopathic inflammatory myopathy of childhood resulting in muscle weakness. EFO:1001988 GARD:0012742 ICD10:M33.2 NCIT:C114358 Orphanet:93568 SCTID:738526005 UMLS:C3826988 JPM juvenile PM MONDO:0019734 juvenile polymyositis https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen. GARD:0008555 ICD10:N04.6 NCIT:C123039 Orphanet:93571 SCTID:722760002 UMLS:C0268743 Mesangiocapillary glomerulonephritis type 2 membranoproliferative glomerulonephritis type 2 MPGN 2 glomerulonephritis membranoproliferative type 2 membranoproliferative glomerulonephritis type II MONDO:0019736 dense deposit disease The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. COHD:313800 GARD:0012465 ICD10:M31.1 ICD9:446.6 MESH:D057049 MedDRA:10043645 NCIT:C62605 Orphanet:93573 SCTID:126729006 UMLS:C2717961 MONDO:0019737 thrombotic microangiopathy ICD10:D58.8 Orphanet:93579 UMLS:CN206650 D-HUS with H factor anomaly aHUS with H factor anomaly atypical HUS with H factor anomaly hemolytic-uremic syndrome without diarrhea with H factor anomaly MONDO:0019738 atypical hemolytic-uremic syndrome with H factor anomaly ICD10:D58.8 Orphanet:93581 UMLS:CN206652 D-HUS with anti-factor H antibodies aHUS with anti-factor H antibodies atypical HUS with anti-factor H antibodies hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. TTP purpura, thrombotic thrombocytopenic GARD:0004607 ICD10:M31.3 MESH:C536901 NCIT:C131653 Orphanet:93585 SCTID:438476003 UMLS:C2584777 UMLS:C2584778 acquired ADAMTS13 deficiency acquired TTP acquired thrombotic thrombocytopenic purpura autoimmune thrombotic thrombocytopenic purpura Moschowitz syndrome idiopathic thrombotic thrombocytopenic purpura MONDO:0019740 acquired thrombotic thrombocytopenic purpura An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome. Orphanet:93587 UMLS:CN206655 hereditary cystic kidney disease MONDO:0019741 familial cystic renal disease ICD10:Q61.5 Orphanet:93589 MONDO:0019742 late-onset nephronophthisis Orphanet:93593 UMLS:CN206659 MONDO:0019743 nephropathy secondary to a storage or other metabolic disease Any disease in which the causes of the disease is a perturbation of the renal tubule leading to its dysfunction. Orphanet:93603 disease of renal tubule renal tubule disease MONDO:0019744 rare renal tubular disease https://github.com/monarch-initiative/mondo/issues/254 ICD10:E72.0 MESH:C565652 Orphanet:93612 MONDO:0019745 cystinuria type A ICD10:E72.0 Orphanet:93613 UMLS:C1857389 MONDO:0019746 cystinuria type B Orphanet:93614 UMLS:CN227684 MONDO:0019747 hematological disorder with renal involvement Orphanet:93618 UMLS:CN227685 MONDO:0019748 rare cause of hypertension https://github.com/monarch-initiative/mondo/issues/254 A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. MedDRA:10072220 NCIT:C119050 Orphanet:93665 UMLS:C3267073 UMLS:C3890737 MONDO:0019751 Editor note: todo - investigate diseases that have autoinflammatory and autommune components, e.g. IBD, Ankylosing Spondylitis, Axial Spondyloarthropathy, perhaps adult Onset Still's Disease. Consider disjointness axiom autoinflammatory syndrome A disease that has its basis in the disruption of embryonic morphogenesis. ICD9:759.7 NCIT:C99267 Orphanet:93890 SCTID:400038003 UMLS:C1302790 UMLS:CN206687 congenital malformation syndrome developmental defect during embryogenesis disorder of embryonic morphogenesis embryonic morphogenesis disease malformation syndrome rare developmental defect during embryogenesis MONDO:0019755 developmental defect during embryogenesis Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra. HP:0000039 ICD10:Q64.0 ICD9:752.62 MESH:D004842 MedDRA:10015088 NCIT:C98923 Orphanet:93928 SCTID:406476007 UMLS:C0014588 UMLS:CN227686 epispadias MONDO:0019759 epispadias (disease) ICD10:E23.0 Orphanet:95488 MONDO:0019824 Editor note: consider merging with familial hypopituitarism non-acquired pituitary hormone deficiency Orphanet:95495 UMLS:CN206775 secondary non-acquired combined pituitary hormone deficiency MONDO:0019827 disease associated with non-acquired combined pituitary hormone deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. ICD10:E23.0 Orphanet:95502 acquired hypopituitarism MONDO:0019832 Editor note: check this acquired pituitary hormone deficiency Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles. GARD:0000511 ICD10:Q87.8 Orphanet:956 SCTID:720413004 acro-pectoro-renal field defect brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys MONDO:0019840 acropectororenal dysplasia https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect Orphanet:95618 UMLS:CN206788 MONDO:0019844 Editor note: see https://github.com/monarch-initiative/mondo-build/pull/120 pituitary hormone deficiency secondary to storage disease An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. ICD10:E28.3 OMIMPS:311360 Orphanet:95710 hereditary primary ovarian failure inherited premature ovarian failure non-acquired premature ovarian failure MONDO:0019852 inherited primary ovarian failure ICD10:Q87.3 Orphanet:96076 UMLS:CN206810 MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication ICD10:Q87.3 Orphanet:96193 UMLS:CN206842 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11 Mosaic paternal uniparental disomy of chromosome 11 UPD(11)pat MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Orphanet:96333 UMLS:CN227722 MONDO:0019936 rare otorhinolaryngological malformation https://github.com/monarch-initiative/mondo/issues/254 Orphanet:96344 UMLS:CN206853 MONDO:0019937 rare gynecologic or obstetric disease https://github.com/monarch-initiative/mondo/issues/254 ICD9:751.5 MESH:C537771 Orphanet:96346 SCTID:33225004 MONDO:0019938 anorectal malformation A muscle tissue disease characterized by congenital joint contractures of hand and feet. DOID:0050646 GARD:0000786 ICD10:Q68.8 OMIMPS:108120 Orphanet:97120 SCTID:24269006 arthrogryposis multiplex congenita freeman-Sheldon syndrome freeman-Sheldon syndrome variant arthrogryposis multiplex congenita distal MONDO:0019942 distal arthrogryposis https://rarediseases.info.nih.gov/diseases/786/distal-arthrogryposis An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. DOID:9588 ICD10:A85 ICD9:323.0 ICD9:323.8 ICD9:323.9 MESH:D004660 MedDRA:10014581 NCIT:C26760 Orphanet:97275 SCTID:45170000 UMLS:C0014038 brain inflammation MONDO:0019956 Editor note: consider merging with brain inflammation encephalitis Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present. ICD10:Q60.3 Orphanet:97361 MONDO:0019979 renal hypoplasia, unilateral Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present. ICD10:Q60.4 Orphanet:97362 SCTID:268232000 MONDO:0019980 renal hypoplasia, bilateral Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional. ICD10:Q61.4 Orphanet:97363 unilateral MCDK unilateral multicystic renal dysplasia MONDO:0019981 unilateral multicystic dysplastic kidney Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional. GARD:0009517 ICD10:Q61.4 Orphanet:97364 SCTID:717749002 bilateral MCDK bilateral multicystic renal dysplasia MRD PUJO Pelvi-ureteric junction obstruction MONDO:0019982 bilateral multicystic dysplastic kidney Orphanet:97366 SCTID:86463003 multilocular cyst of the kidney multilocular renal cyst MONDO:0019983 multiloculated renal cyst 'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).' ICD10:Q63.8 Orphanet:97367 UMLS:CN206914 MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion ICD10:Q63.8 Orphanet:97368 MONDO:0019985 drug-related renal tubular dysgenesis ICD10:N04.8 Orphanet:97555 UMLS:CN206920 MONDO:0019986 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated. ICD10:N05.7 Orphanet:97563 UMLS:CN206923 pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody MONDO:0019988 pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer. ICD10:N05.7 Orphanet:97564 antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody MONDO:0019989 pauci-immune glomerulonephritis without ANCA Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases. GARD:0012740 ICD10:N03.6 Orphanet:97566 SCTID:718192000 UMLS:C4273674 Congo red-negative amyloidosis-like glomerulopathy non-amyloid fibrillary glomerulonephritis fibrillary glomerulonephritis MONDO:0019990 non-amyloid fibrillary glomerulopathy Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases. GARD:0012048 ICD10:N03.6 ICD9:583.9 NCIT:C96182 Orphanet:97567 SCTID:73305009 FGN Immunotactoid glomerulonephritis fibrillary glomerulonephritis MONDO:0019991 immunotactoid glomerulopathy https://rarediseases.info.nih.gov/diseases/12048/immunotactoid-glomerulopathy Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). DOID:4184 GARD:0010758 ICD10:E20.1 ICD9:275.49 MESH:D011547 MedDRA:10037126 NCIT:C99027 Orphanet:97593 SCTID:58976002 UMLS:C0033806 MONDO:0019992 pseudohypoparathyroidism https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism A narrowing of renal arteries that is present since birth. ICD10:Q27.1 Orphanet:97598 SCTID:271432005 congenital RAS congenital renovascular hypoplasia MONDO:0019993 congenital renal artery stenosis https://github.com/monarch-initiative/mondo/issues/1741 Orphanet:97945 MONDO:0019999 intestinal malformation Orphanet:97957 MONDO:0020001 respiratory or thoracic malformation Orphanet:98023 UMLS:CN206945 rare systemic or rheumatologic disease MONDO:0020012 Editor note: todo. ORDO includes vasculitis here but this is not normally included in the SARDs systemic or rheumatic disease Orphanet:98026 UMLS:CN206946 MONDO:0020013 rare odontologic disease https://github.com/monarch-initiative/mondo/issues/254 Orphanet:98027 UMLS:CN206947 MONDO:0020014 rare disease with odontological manifestation https://github.com/monarch-initiative/mondo/issues/254 Orphanet:98033 UMLS:CN206949 MONDO:0020016 rare neurologic disease with psychiatric involvement https://github.com/monarch-initiative/mondo/issues/254 Orphanet:98038 MONDO:0020018 cranial malformation Orphanet:98039 MONDO:0020019 digestive tract malformation Orphanet:98041 MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spleen Orphanet:98043 MONDO:0020021 diaphragmatic or abdominal wall malformation MESH:D009421 Orphanet:98044 MONDO:0020022 central nervous system malformation Differences of sex development in individuals with 46,XY karyotype. GARD:0008538 MESH:D058490 NCIT:C127171 Orphanet:98085 SCTID:8234004 UMLS:C2751824 46,XY DSD 46,XY differences of Sex development 46,XY disorders of Sex development 46, XY DSD 46, XY disorders of sexual development 46, XY female XY female MONDO:0020040 46,XY disorder of sex development Orphanet:98087 UMLS:CN206965 syndrome with 46,XY DSD MONDO:0020042 syndrome with 46,XY disorder of sex development Orphanet:98095 MONDO:0020043 autosomal recessive congenital cerebellar ataxia Orphanet:98096 UMLS:CN229258 MONDO:0020044 autosomal recessive metabolic cerebellar ataxia A chromosomal anomaly that involves an autosome. Orphanet:98127 UMLS:CN227743 autosome chromosomal anomaly chromosomal anomaly of autosome MONDO:0020049 autosomal anomaly A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. GARD:0006065 ICD9:758.5 NCIT:C3421 Orphanet:98130 SCTID:429442006 UMLS:C1996945 autosomal duplication trisomy chromosomal triplication MONDO:0020050 autosomal trisomy Orphanet:98131 MONDO:0020051 total autosomal trisomy Orphanet:98132 MONDO:0020052 partial autosomal trisomy/tetrasomy ICD10:Q93.3 ICD10:Q93.4 ICD10:Q93.5 Orphanet:98142 partial autosomal deletion MONDO:0020054 partial autosomal monosomy ICD10:Q99.8 Orphanet:98152 UMLS:CN229262 MONDO:0020055 autosomal uniparental disomy ICD10:Q99.8 Orphanet:98154 SCTID:726402006 MONDO:0020057 uniparental disomy of paternal origin COHD:441398 ICD9:758.8 ICD9:758.81 Orphanet:98155 SCTID:95462004 Sex-chromosome anomaly MONDO:0020058 gonosome anomaly Orphanet:98156 Sex-chromosome number anomaly MONDO:0020059 gonosome number anomaly Orphanet:98157 Sex-chromosome structural anomaly MONDO:0020060 gonosome structural anomaly ICD10:Q99.8 Orphanet:98159 MONDO:0020062 chromosome X structural anomaly Orphanet:98196 UMLS:CN206967 Dysmorphologic diseases with phakomatosis MONDO:0020063 malformation syndrome with hamartosis The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Cutis hyperelastica India rubber skin COHD:79145 DOID:13359 GARD:0006322 ICD10:Q79.6 ICD9:756.83 MESH:D004535 MedDRA:10014316 NCIT:C34568 OMIMPS:130000 Orphanet:98249 SCTID:398114001 UMLS:C0013720 Danlos Disease, Ehlers Danlos disease Disease, Ehlers Danlos Disease, Ehlers-Danlos Dystrophia mesodermalis congenita EDS Ehler Danlos Syndrome Ehlers Danlos Disease Ehlers Danlos syndrome Ehlers-Danlos Disease Ehlers-Danlos syndromes Fibrodysplasia elastica generalisata Hereditary collagen dysplasia Meekeren-Ehlers-Danlos syndrome Syndrome, Ehlers-Danlos danlos ehlers syndrome elastic skin skin elastic ED syndrome MONDO:0020066 Ehlers-Danlos syndrome A epilepsy syndrome that occurs during childhood. ICD10:G40.4 Orphanet:98259 UMLS:CN206976 childhood epilepsy syndrome epilepsy syndrome of childhood pediatric epilepsy syndrome MONDO:0020072 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. childhood-onset epilepsy syndrome https://github.com/monarch-initiative/mondo/issues/1640 ICD10:G40.4 Orphanet:98260 UMLS:CN206977 MONDO:0020073 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. adolescent-onset epilepsy syndrome https://github.com/monarch-initiative/mondo/issues/1640 A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. DOID:891 GARD:0007140 MESH:D020191 NCIT:C7636 OMIMPS:254800 Orphanet:98261 SCTID:267581004 UMLS:C0751778 PME epilepsy, progressive myoclonic progressive myoclonic epilepsy progressive myoclonic epilepsy (disorder) [ambiguous] progressive myoclonus epilepsy familial progressive myoclonic epilepsy MONDO:0020074 progressive myoclonus epilepsy ICD10:N46 Orphanet:98343 Male infertility due to impaired sperm transport MONDO:0020091 male infertility due to obstructive azoospermia A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. NCIT:C101218 Orphanet:98364 SCTID:111575000 UMLS:CN227780 anemia due to membrane defect hemolytic anemia due to erythrocyte membrane defect hemolytic anemia due to membrane defect rare constitutional hemolytic anemia due to a red cell membrane anomaly MONDO:0020101 constitutional hemolytic anemia due to membrane defect ICD10:D51.0 ICD10:D51.1 ICD10:D51.2 ICD10:D51.3 ICD10:D51.8 ICD10:D51.9 Orphanet:98396 UMLS:CN227785 MONDO:0020109 constitutional megaloblastic anemia due to vitamin B12 metabolism disorder ICD10:D53.0 ICD10:D53.1 ICD10:D53.2 ICD10:D53.8 ICD10:D53.9 Orphanet:98415 MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia A syndromic intellectual disability with an X-linked mode of inheritance. DOID:0060309 OMIMPS:309510 Orphanet:98464 intellectual disability, X-linked syndromic mental retardation, X-linked syndromic syndromic X-linked intellectual disability syndromic X-linked mental retardation syndromic intellectual disability, X-linked MONDO:0020119 X-linked syndromic intellectual disability A disease involving the skeletal muscle tissue. MedDRA:10028641 Orphanet:98472 SCTID:75047002 UMLS:C1533847 disease of skeletal muscle tissue disease or disorder of skeletal muscle tissue disorder of skeletal muscle tissue skeletal muscle tissue disease skeletal muscle tissue disease or disorder MONDO:0020120 skeletal muscle disease An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. GARD:0009128 ICD9:359.79 NCIT:C116796 Orphanet:98482 SCTID:702380008 UMLS:C0751356 IIm IMM idiopathic inflammatory myopathies idiopathic inflammatory myositis idiopathic inflammatory myopathy, familial MONDO:0020122 idiopathic inflammatory myopathy Genetic peripheral neuropathy. Orphanet:98497 genetic peripheral neuropathy MONDO:0020127 genetic peripheral neuropathy Orphanet:98514 MONDO:0020130 malformation of the cerebellar vermis Orphanet:98519 MONDO:0020133 posterior fossa malformation Orphanet:98538 MONDO:0020138 ataxia with dementia Orphanet:98543 UMLS:CN207023 MONDO:0020142 metabolic disease with dementia Orphanet:98553 MONDO:0020145 developmental defect of the eye Orphanet:98554 MONDO:0020146 major induction processes eye anomaly A aniridia that is part of a larger syndrome. Orphanet:98557 UMLS:CN227798 syndrome associated with aniridia syndromic aniridia MONDO:0020148 syndromic aniridia Orphanet:98558 UMLS:CN207024 MONDO:0020149 rare eye disease due to a differentiation anomaly https://github.com/monarch-initiative/mondo/issues/254 Orphanet:98561 eyelid malformation MONDO:0020152 rare eyelid malformation https://github.com/monarch-initiative/mondo/issues/254 A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure. DOID:0111716 GARD:0010505 ICD9:743.06 NCIT:C124520 Orphanet:98562 SCTID:400951005 cryptophthalmos MONDO:0020153 cryptophthalmia Orphanet:98567 UMLS:CN227803 MONDO:0020158 eyelids malposition disorder ICD10:Q10.2 MedDRA:10014923 Orphanet:98568 SCTID:20392000 MONDO:0020159 congenital entropion ICD10:H02.0 Orphanet:98569 MONDO:0020160 secondary entropion Orphanet:98572 MONDO:0020163 canthal anomaly ICD10:Q10.3 Orphanet:98573 MONDO:0020164 epicanthal fold Orphanet:98574 UMLS:CN227805 MONDO:0020165 syndromic epicanthus ICD10:Q10.3 Orphanet:98576 MONDO:0020167 malposition of external canthus MedDRA:10015995 MedDRA:10037272 Orphanet:98578 UMLS:CN207031 MONDO:0020169 rare disorder with ptosis https://github.com/monarch-initiative/mondo/issues/254 Orphanet:98608 MONDO:0020196 anomaly of the secretory and excretory apparatus of the lacrimal system Orphanet:98609 UMLS:CN207046 MONDO:0020197 Editor note: check this EEC syndrome and related syndrome A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma. Orphanet:98631 secondary congenital glaucoma MONDO:0020216 secondary dysgenetic glaucoma Orphanet:98632 glaucoma associated with neural crest cell migration anomaly MONDO:0020217 secondary dysgenetic glaucoma associated with neural crest cell migration anomaly Orphanet:98638 UMLS:CN207054 MONDO:0020222 rare disease with glaucoma as a major feature https://github.com/monarch-initiative/mondo/issues/254 https://github.com/monarch-initiative/mondo/projects/6 Orphanet:98639 MONDO:0020223 lens and zonula anomaly A cataract (disease) that is part of a larger syndrome. Orphanet:98641 UMLS:CN227829 syndrome associated with cataract (disease) syndromic cataract (disease) MONDO:0020225 syndromic cataract Orphanet:98642 MONDO:0020226 chromosomal anomaly with cataract Orphanet:98643 UMLS:C0339369 MONDO:0020227 systemic disease with cataract Orphanet:98644 UMLS:CN207056 MONDO:0020228 cataract associated with a metabolic disease Orphanet:98645 UMLS:CN207057 MONDO:0020229 cerebral disease with cataract Orphanet:98646 UMLS:CN207058 MONDO:0020230 renal disease with cataract Orphanet:98648 UMLS:CN207060 MONDO:0020232 musculoskeletal disease with cataract Orphanet:98655 MONDO:0020237 lens shape anomaly Orphanet:98657 UMLS:CN207063 genetic vitreoretinal disease genetic vitreous-retinal disease MONDO:0020238 inherited vitreous-retinal disease A retinitis pigmentosa that is part of a larger syndrome. Orphanet:98661 UMLS:CN227834 syndrome associated with retinitis pigmentosa syndromic retinitis pigmentosa MONDO:0020240 syndromic retinitis pigmentosa Macular dystrophy that is related to a change in a gene. DC:0000263 ICD10:H35.5 NCIT:C140264 Orphanet:98664 SCTID:276436007 genetic macular dystrophy genetic macular dystrophy (disease) MONDO:0020242 genetic macular dystrophy Orphanet:98666 MONDO:0020244 unclassified primitive or secondary maculopathy HP:0007773 Orphanet:98668 UMLS:C1850109 MONDO:0020246 inherited vitreoretinopathy ICD10:Q14.1 ICD9:743.56 Orphanet:98669 SCTID:449866003 vitreoretinal dysplasia MONDO:0020247 congenital vitreoretinal dysplasia MedDRA:10061323 Orphanet:98671 MONDO:0020249 hereditary optic neuropathy Orphanet:98681 UMLS:CN207070 MONDO:0020251 rare strabismus and restriction syndrome https://github.com/monarch-initiative/mondo/issues/254 Orphanet:98683 UMLS:CN207072 MONDO:0020253 syndrome with a symptomatic strabismus Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement. GARD:0008403 Orphanet:98687 conjugate gaze palsy gaze palsy supranuclear disorder of eye movement supranuclear ocular palsy MONDO:0020257 Editor note: TODO review literature. Consider relationship to ocular nerve, supranuclear pathway includes other nerves supranuclear oculomotor palsy Orphanet:98688 UMLS:CN207073 MONDO:0020258 oculomotor apraxia or related oculomotor disease Orphanet:98696 MONDO:0020266 genodermatosis with ocular features Orphanet:98702 UMLS:CN207077 MONDO:0020272 connective tissue disease with eye involvement Orphanet:98704 UMLS:CN207079 MONDO:0020274 onycho-patellar syndrome with eye involvement Orphanet:98710 UMLS:CN207081 MONDO:0020278 metabolic disease associated with ocular features Orphanet:98711 UMLS:CN207082 MONDO:0020279 metabolic disease with corneal opacity Orphanet:98712 UMLS:CN207083 MONDO:0020280 metabolic disease with cataract Orphanet:98713 UMLS:CN207084 MONDO:0020281 metabolic disease with pigmentary retinitis An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. DOID:13141 EFO:1001231 HP:0000554 ICD10:H20.9 MESH:D014605 MedDRA:10046851 NCIT:C26909 Orphanet:98715 SCTID:128473001 UMLS:C0042164 inflammation of uvea uvea inflammation uveitis MONDO:0020283 uveitis (disease) Orphanet:98716 MONDO:0020284 heart position anomaly Orphanet:98717 MONDO:0020285 transposition of the great arteries and conotruncal cardiac anomaly Orphanet:98718 MONDO:0020286 aortic malformation MedDRA:10061080 Orphanet:98724 congenital aorta, aortic arch or pulmonary arteries anomaly MONDO:0020292 congenital anomaly of the great arteries MESH:C537846 Orphanet:98733 UMLS:CN166718 MONDO:0020297 Noonan syndrome and Noonan-related syndrome ICD10:Q96.9 NCIT:C36630 Orphanet:99226 SCTID:710008008 UMLS:CN776902 monosomy type X MONDO:0020466 monosomy X ICD10:Q96.3 ICD10:Q96.4 Orphanet:99228 SCTID:710010005 UMLS:C4040907 UMLS:CN776903 Mosaic Turner syndrome Mosaic monosomy type X XX/XO MONDO:0020467 Editor note: add qualifier for mosaicism mosaic monosomy X ICD10:Q96.1 ICD10:Q96.2 Orphanet:99413 UMLS:CN207336 MONDO:0020472 Turner syndrome due to structural X chromosome anomalies Orphanet:99739 rare familial disorder with hypertrophic obstructive cardiomyopathy rare familial disorder with hypertrophic subaortic stenosis MONDO:0020484 rare familial disorder with hypertrophic cardiomyopathy https://github.com/monarch-initiative/mondo/issues/254 Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). ICD10:E24.8 Orphanet:99893 UMLS:CN207429 adrenal Cushing syndrome adrenocorticotropic hormone-independent Cushing syndrome corticotropin-independent Cushing syndrome MONDO:0020529 ACTH-independent Cushing syndrome A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. cjm 2017-09-30T12:01:25Z MESH:D020022 hereditary disease susceptibility hereditary predisposition to disease genetic predisposition genetic predispositions genetic susceptibilities genetic susceptibility predisposition, genetic predispositions, genetic susceptibilities, genetic susceptibility, genetic MONDO:0020573 inherited disease susceptibility Inflammation of the mucous membranes. NCIT:C115965 inflammation of mucosa mucosa inflammation mucositis MONDO:0020579 mucositis A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. NCIT:C121791 UMLS:C3839685 benign PEComa benign PEComa, nos benign PEComa, not otherwise specified benign neoplasm with perivascular epithelioid cell differentiation neoplasm with perivascular epithelioid cell differentiation, benign typical PEComa MONDO:0020581 benign PEComa Infection due to organisms from the genus Mycobacteria. MESH:D009164 NCIT:C26831 SCTID:88415009 UMLS:C0026918 mycobacterial infection mycobacteriosis mycobacterium infection MONDO:0020590 mycobacterial infectious disease A disease or disorder that involves the retroperitoneal space. NCIT:C27667 SCTID:734045002 disease of retroperitoneal space disease or disorder of retroperitoneal space disorder of retroperitoneal space retroperitoneal disease retroperitoneal disorder retroperitoneal space disease retroperitoneal space disease or disorder MONDO:0020595 disease of retroperitoneum A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. MESH:D008286 NCIT:C3214 SCTID:32230006 UMLS:C0024523 malabsorption malabsorption syndrome MONDO:0020598 malabsorption syndrome Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. DOID:0060248 OMIM:312870 DGSX Golabi-Rosen syndrome GPC3 Simpson-Golabi-Behmel syndrome SGBS1 Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome caused by mutation in GPC3 Simpson-Golabi-Behmel syndrome type 1 bulldog syndrome Golabi-Rosen syndrome Sgbs Simpson-Golabi-Behmel syndrome, type 1 dysplasia gigantism syndrome, X-linked MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 ICD9:758.81 SCTID:82852009 sex-linked hereditary disorder MONDO:0020606 sex-linked disease Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene. OMIM:177200 Liddle syndrome caused by mutation in SCNN1B SCNN1B Liddle syndrome LIDLS1 Liddle syndrome Liddle syndrome 1 Pseudoaldosteronism MONDO:0020607 Liddle syndrome 1 NCIT:C36025 UMLS:C1332287 anaplastic malignant neoplasm MONDO:0020633 anaplastic cancer A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number. MESH:D009006 NCIT:C3239 monosomy MONDO:0020639 monosomy A benign or malignant, primary or metastatic neoplasm involving the respiratory tract. EFO:0003853 MESH:D012142 NCIT:C3355 SCTID:126667002 neoplasm of respiratory tract neoplasm of the respiratory tract neoplasm, respiratory tract neoplasms, respiratory tract respiratory system neoplasm respiratory tract neoplasm respiratory tract tumor tract neoplasm, respiratory tract neoplasms, respiratory tumor of respiratory tract tumor of the respiratory tract MONDO:0020641 respiratory tract neoplasm A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. DOID:0080322 NCIT:C75464 OMIMPS:173900 SCTID:82525005 PKD - polycystic kidney disease fibrocystic renal disease polycystic kidney disease MONDO:0020642 polycystic kidney disease A transitional cell carcinoma that arises from the renal pelvis and ureter. NCIT:C7716 TCC of renal pelvis and ureter TCC of the renal pelvis and ureter renal pelvis and ureter TCC renal pelvis and ureter transitional cell cancer renal pelvis and ureter transitional cell carcinoma renal pelvis and ureter urothelial carcinoma transitional cell cancer of renal pelvis and ureter transitional cell cancer of the renal pelvis and ureter transitional cell carcinoma of renal pelvis and ureter urothelial carcinoma of the renal pelvis and ureter MONDO:0020654 renal pelvis/ureter urothelial carcinoma NCIT:C36046 high grade malignant neoplasm MONDO:0020665 high grade malignant neoplasm central nervous system or retinal vascular disease retina/CNS vascular disease MONDO:0020676 Editor note: even though retinal diseases may be located outside the CNS, they are often indicators of CNS disease disease of central nervous system or retinal vasculature NCIT:C168975 OMIM:601776 Arthrogryposis, Distal, with peculiar facies and hydronephrosis Dundar syndrome EDSMC EDSMC1 Ehlers-Danlos syndrome, musculocontractural type, 1 Ehlers-Danlos syndrome, type Vib Ehlers-Danlos syndrome, type Vib, formerly adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome adducted thumb-clubfoot syndrome MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 Disease having a short and relatively severe course. ICD9:799.89 MESH:D000208 SCTID:2704003 UMLS:C0001314 acute disease acute diseases disease, acute MONDO:0020683 acute disease A disease characterized by low serum levels of vitamin B12, either inherited or acquired. HP:0100502 ICD9:266.2 MESH:D014806 NCIT:C131684 SCTID:190634004 UMLS:C0042847 cobalamin deficiency hypocobalaminemia vitamin b12 deficiency MONDO:0020696 vitamin B12 deficiency OMIM:265450 PVOD1 pulmonary venoocclusive disease 1, autosomal dominant MONDO:0020713 pulmonary venoocclusive disease 1 An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. GARD:0007002 ICD10:Q61.5 NCIT:C123171 OMIM:174000 Orphanet:88949 UMLS:C1868139 UMLS:CN206321 ADTKD-MUC1 MCKD1 MUC1-related autosomal dominant medullary cystic kidney disease MUCI-related ADTKD autosomal dominant medullary cystic kidney disease without hyperuricemia autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1 medullary cystic kidney disease 1 medullary cystic kidney disease type 1 medullary cystic kidney disease, autosomal dominant ADMCKD1 MUC1-related autosomal dominant tubulointerstitial kidney disease Mckd polycystic kidneys, medullary type MONDO:0020726 medullary cystic kidney disease 1 https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations OMIM:220150 UMLS:C0473219 Dalmatian hypouricemia RHUC1 hypouricemia, renal, 1 hypouricemia, renal, type 1 renal hypouricemia MONDO:0020728 hypouricemia, renal 1 OMIM:143880 UMLS:C0268080 HCINF1 hypercalcemia, infantile, 1 MONDO:0020739 autosomal recessive infantile hypercalcemia 1 GARD:0001715 OMIMPS:304500 DFNX deafness, X-linked deafness, X-linked, DFN MONDO:0020768 Note that this encompasses both syndromic and non-syndromic types. X-linked deafness OMIM:616418 HOMGSMR1 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 OMIM:618314 HOMGSMR2 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2 OMIMPS:617660 Orphanet:521438 VCRL vertebral, cardiac, renal, and limb defects syndrome MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene. OMIM:618114 LIDLS2 Liddle syndrome 2 Liddle syndrome caused by mutation in SCNN1G SCNN1G Liddle syndrome MONDO:0020854 Liddle syndrome 2 A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms. DOID:0050581 HP:0001156 MESH:D059327 brachydactyly MONDO:0021004 brachydactyly (disease) A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. MESH:D053447 UMLS:C1720983 disorder of ion channel activity ion channel activity disease MONDO:0021016 channelopathy An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome. Orphanet:183447 genetic epidermal appendage anomaly MONDO:0021026 genetic epidermal appendage anomaly An instance of nail anomaly that is caused by a modification of the individual's genome. Orphanet:183454 genetic nail anomaly MONDO:0021028 genetic nail anomaly An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome. Orphanet:183460 genetic sebaceous gland anomaly MONDO:0021029 genetic sebaceous gland anomaly A neoplasm composed of at least two distinct cellular populations. ICDO:8940/1 MESH:D018193 NCIT:C6930 mixed neoplasm mixed tumor MONDO:0021043 mixed neoplasm A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. EFO:0007271 MESH:D018225 NCIT:C3743 UMLS:C0206649 fibroepithelial neoplasm fibroepithelial tumor MONDO:0021045 fibroepithelial neoplasm A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma. DOID:0080639 ICD9:170.9 MedDRA:10006007 NCIT:C9312 Orphanet:223727 SCTID:448710000 UMLS:C1704327 bone sarcoma osseous sarcoma sarcoma of bone sarcoma of the bone skeletal sarcoma MONDO:0021054 bone sarcoma A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. NCIT:C54705 cancer-related syndrome neoplastic syndrome tumor syndrome MONDO:0021058 neoplastic syndrome Any disease or disorder affecting the head and/or neck region. NCIT:C27571 UMLS:C1333941 craniocervical region disease craniocervical region disease or disorder disease of craniocervical region disease or disorder of craniocervical region disorder of craniocervical region head and neck disorder head or neck disorder MONDO:0021059 head or neck disease/disorder The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. EFO:1001502 Orphanet:536391 Ras protein signal transduction disease disorder of Ras protein signal transduction MONDO:0021060 RASopathy A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. COHD:376938 DOID:8712 GARD:0010420 ICD10:Q85.00 ICD10:Q85.01 ICD10:Q85.02 ICD9:237.7 ICD9:237.70 ICD9:237.71 ICD9:237.72 ICDO:9540/1 MESH:D017253 NCIT:C6727 SCTID:19133005 UMLS:C0162678 Neurofibromatosis 1 Recklinghausen's neurofibromatosis acoustic neurofibromatosis central Neurofibromatosis neurofibromatosis neurofibromatosis syndrome neurofibromatosis type 1 neurofibromatosis type 2 neurofibromatosis type 4 neurofibromatosis type IV peripheral Neurofibromatosis type IV neurofibromatosis of riccardi von Reklinghausen disease MONDO:0021061 neurofibromatosis A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 ICD9:239.5 NCIT:C3431 ONCOTREE:BLADDER SCTID:126879004 neoplasm of renal system neoplasm of the urinary system neoplasm of the urinary tract neoplasm of urinary system neoplasm of urinary tract renal system neoplasm renal system neoplasm (disease) renal system tumor tumor of renal system tumor of the urinary system tumor of the urinary tract tumor of urinary system tumor of urinary tract urinary system neoplasm urinary system tumor urinary tract neoplasm urinary tract tumor MONDO:0021066 Editor note: note the ONCOTREE class is more general than just bladder urinary system neoplasm A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. DOID:170 ICD10:C75.9 ICD9:194.9 MESH:D004701 NCIT:C3575 Endocrine tumor cancer of endocrine gland endocrine cancer endocrine gland cancer endocrine neoplasm endocrine neoplasm, malignant malignant endocrine gland neoplasm malignant endocrine gland tumor malignant endocrine neoplasm malignant endocrine tumor malignant neoplasm of endocrine gland malignant neoplasm of the endocrine gland malignant tumor of endocrine gland malignant tumor of the endocrine gland malignant tumour of endocrine gland neoplasm of endocrine gland neoplasm of endocrine system endocrine cancer, NOS MONDO:0021069 malignant endocrine neoplasm A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. MESH:D011230 NCIT:C3341 precancerous condition precancerous state premalignant condition premalignant state MONDO:0021074 Editor note: check classification. Also consider changing def, NCIT defines as disease. Also consider a grouping for this and paraneoplastic syndrome precancerous condition A benign or malignant neoplasm arising during childhood. neoplasm NCIT:C6283 childhood neoplasm childhood neoplasm (disease) childhood tumor neoplasm neoplasm (disease) of childhood pediatric neoplasm pediatric neoplasm (disease) pediatric tumor MONDO:0021079 childhood neoplasm A neoplasm arising from arteries or veins. NCIT:C7387 SCTID:126736007 blood vessel neoplasm blood vessel neoplasm (disease) blood vessel tumor neoplasm of blood vessel tumor of blood vessel MONDO:0021080 blood vessel neoplasm Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. Sensenbrenner syndrome OMIM:218330 CED1 IFT122 cranioectodermal dysplasia cranioectodermal dysplasia 1 cranioectodermal dysplasia caused by mutation in IFT122 cranioectodermal dysplasia type 1 Levin syndrome 1 MONDO:0021093 cranioectodermal dysplasia 1 Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. COHD:433740 ICD9:279.3 NCIT:C3131 OMIMPS:300755 SCTID:234532001 immuno-deficiency immunodeficiency immunodeficiency disorder immunodeficiency syndrome MONDO:0021094 immunodeficiency disease NCIT:C8429 UMLS:C1335324 papillary epithelial neoplasm MONDO:0021096 papillary epithelial neoplasm An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. NCIT:C6192 ONCOTREE:IUP UMLS:C1334282 inverted papilloma of urinary tract inverted urothelial papilloma urinary tract inverted papilloma urothelium inverted papilloma IUP MONDO:0021109 inverted urothelial papilloma A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. MESH:D008175 NCIT:C3200 ONCOTREE:LUNG lung neoplasm lung neoplasm (disease) lung neoplasms lung tumor neoplasm of lung neoplasm of the lung tumor of lung tumor of the lung lung neoplasm, lung neoplasm, pulmonary neoplasms, lung neoplasms, pulmonary MONDO:0021117 lung neoplasm Diminished or absent ability of a female to achieve conception. COHD:201909 EFO:0008560 ICD10:N97 ICD9:628.8 ICD9:628.9 MESH:D007247 SCTID:6738008 UMLS:C0341869 female infertility female reproductive system infertility female reproductive system infertility disorder infertility disorder of female reproductive system female sterility female sub-fertility female subfertility postpartum sterility sterility, female sterility, postpartum sub fertility, female sub-fertility, female subfertility, female MONDO:0021124 female infertility An attribute of a disease. NCIT:C41009 disease qualifier modifier qualifier MONDO:0021125 disease characteristic An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. MONDO:0021126 syndromic or isolated An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features. MONDO:0021127 has a syndromic presentation An characteristic of a disease in which the disease is manifested as an isolated feature. MONDO:0021128 has an isolated presentation MONDO:0021135 rare or common https://github.com/monarch-initiative/mondo/issues/254 A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet. rare (European definition) MONDO:0021136 rare MONDO:0021139 congenital or acquired A characteristic of a disease in which the disease is present at birth, regardless of cause. inborn MONDO:0021140 congenital Orphanet:409941 not genetically inherited MONDO:0021141 acquired A disease that involves the genitourinary system. ICD10:N00.N99 SCTID:42030000 UMLS:C0080276 disease of genitourinary system disease or disorder of genitourinary system disorder of genitourinary system disorder of the genitourinary system genitourinary system disease genitourinary system disease or disorder syndrome of the genitourinary system urogenital disease urogenital disorder MONDO:0021145 disease of genitourinary system Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development. MONDO:0021147 disorder of development or morphogenesis A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma. EFO:1001331 MESH:D005833 NCIT:C3053 UMLS:C0017416 female reproductive organ neoplasm (disease) female reproductive organ tumor female reproductive system neoplasm female reproductive system neoplasm (disease) female reproductive system tumor gynecologic neoplasm gynecologic tumor neoplasm of female reproductive organ neoplasm of female reproductive system neoplasm of the female reproductive system tumor of female reproductive system tumor of the female reproductive system MONDO:0021148 female reproductive system neoplasm MONDO:0021149 genetic vs non-genetic etiology A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents. EFO:0004420 constitutitional genetic familial genetic hereditary inherited genetic MONDO:0021152 inherited A disease that involves the dermis. Orphanet:79381 UMLS:CN227618 dermis disease dermis disease or disorder disease of dermis disease or disorder of dermis disorder of dermis other dermis disorder MONDO:0021154 dermis disease A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. ICD9:239.5 NCIT:C3150 ONCOTREE:KIDNEY SCTID:126880001 kidney neoplasm kidney neoplasm (disease) kidney tumor neoplasm of kidney neoplasm of the kidney renal neoplasm renal tumor renal tumors tumor of kidney tumor of the kidney MONDO:0021163 kidney neoplasm A disease involving a pathogenic inflammatory response in the anatomical structure. ICD9:799.89 NCIT:C93210 SCTID:128139000 UMLS:C1290884 anatomical structure inflammation inflammation of anatomical structure inflammatory disease inflammatory disorder MONDO:0021166 inflammatory disease An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue. COHD:73001 DOID:633 EFO:0000783 ICD10:G72.49 ICD10:M60 ICD10:M60.9 ICD9:728.9 MESH:D009220 NCIT:C27578 SCTID:128496001 UMLS_CUI:C0027121 inflammation of muscle tissue inflammatory disorder of muscle inflammatory disorder of muscle (disorder) muscle tissue inflammation MONDO:0021167 myositis Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. COHD:440921 EFO:0000546 ICD10:S00.T98 MESH:D014947 NCIT:C3671 injury trauma traumatic injury wound MONDO:0021178 injury Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins. MESH:D057165 UMLS:C2718001 Proteostasis deficiency Proteostasis dysfunction Proteostasis dysfunctions deficiencies, Proteostasis deficiency, Proteostasis dysfunction, Proteostasis dysfunctions, Proteostasis Misfolding disease, Protein Misfolding diseases, Protein Misfolding disorder, Protein Misfolding disorders, Protein Protein Misfolding disease Protein Misfolding diseases Protein Misfolding disorder Protein Misfolding disorders Protein folding disease Protein folding diseases Protein folding disorder Protein folding disorders disease, Protein Misfolding disease, Protein folding diseases, Protein Misfolding diseases, Protein folding disorder, Protein Misfolding disorder, Protein folding disorders, Protein Misfolding disorders, Protein folding folding disease, Protein folding diseases, Protein folding disorder, Protein folding disorders, Protein proteinopathy proteopathic disease proteopathy MONDO:0021179 proteostasis deficiencies Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. DOID:2214 MESH:D025861 Orphanet:183654 UMLS:C0852077 UMLS:CN226819 coagulation disorder, hereditary coagulation disorder, inherited coagulation disorders, hereditary coagulation disorders, inherited hereditary blood coagulation disease hereditary blood coagulation disorders hereditary coagulation disorder hereditary coagulation disorders inherited blood coagulation disorders inherited coagulation disorder inherited coagulation disorders rare genetic coagulation disorder inherited blood coagulation disease MONDO:0021181 inherited blood coagulation disorder A disease that has its basis in the disruption of intestinal motility. disorder of intestinal motility MONDO:0021189 intestinal motility disease A disease that has its basis in the disruption of DNA repair. EFO:0008499 MESH:D049914 NCIT:C7757 DNA repair disorder deficiency of DNA repair disorder of DNA repair DNA Repairs, deficient DNA repair deficiency DNA repair deficiency disorders DNA repair, deficient DNA repair-deficiencies DNA repair-deficiency DNA repair-deficiency disorder Repairs, deficient DNA chromosome instability syndrome chromosome instability syndromes deficient DNA Repairs deficient DNA repair disorder, DNA repair-deficiency disorders, DNA repair-deficiency repair, deficient DNA syndrome, chromosome instability syndromes, chromosome instability MONDO:0021190 DNA repair disease A grouping of diseases based on molecular activity, cellular process or subcellular component. MONDO:0021194 disease by subcellular system affected MONDO:0021195 disease by cellular process disrupted MONDO:0021196 disease by molecular activity disrupted MONDO:0021197 disease by cellular component affected A disease that disrupts the functioning of an organ system. DOID:7 ICD9:796.4 SCTID:362965005 UMLS:C1285159 anatomical system disease disease of anatomical system disease of anatomical entity disorder of anatomical system MONDO:0021199 disease by anatomical system A neoplasm (disease) that involves the adrenal gland. EFO:0003850 NCIT:C2859 ONCOTREE:ADRENALGLAND adrenal gland neoplasm (disease) adrenal gland tumor adrenal neoplasm adrenal neoplasms adrenal tumor neoplasm of adrenal gland neoplasm of the adrenal gland tumor of adrenal gland tumor of the adrenal gland ADRENALGLAND MONDO:0021227 adrenal gland neoplasm A neoplasm (disease) that involves the uterine cervix. NCIT:C2940 ONCOTREE:CERVIX Cervical neoplasm cervical tumor cervix neoplasm cervix tumor cervix uteri neoplasm cervix uteri tumor neoplasm of cervix neoplasm of cervix uteri neoplasm of the cervix neoplasm of the cervix uteri neoplasm of the uterine cervix neoplasm of uterine cervix tumor of cervix tumor of cervix uteri tumor of the cervix tumor of the cervix uteri tumor of the uterine cervix tumor of uterine cervix uterine cervix neoplasm (disease) uterine cervix tumor cervix MONDO:0021230 uterine cervix neoplasm A neoplasm (disease) that involves the urethra. EFO:0003846 NCIT:C3428 neoplasm of the urethra neoplasm of urethra neoplasms. urethra tumor of the urethra tumor of urethra tumors. urethra urethra neoplasm (disease) urethra neoplasms urethra tumor urethra tumors urethral neoplasm urethral neoplasms urethral tumor urethral tumors MONDO:0021239 urethra neoplasm A neoplasm (disease) that involves the nervous system. COHD:444200 NCIT:C3268 neoplasm of nervous system neoplasm of the nervous system nervous system neoplasm (disease) nervous system neoplasms nervous system tumor nervous system tumour tumor of nervous system tumor of the nervous system MONDO:0021248 nervous system neoplasm A in situ carcinoma that involves the renal pelvis. ICD9:233.9 NCIT:C4597 SCTID:92697000 UMLS:C0347184 carcinoma in situ of kidney pelvis carcinoma in situ of renal pelvis carcinoma in situ of the kidney pelvis carcinoma in situ of the renal pelvis kidney pelvis carcinoma in situ renal pelvis carcinoma in situ renal pelvis in situ carcinoma stage 0 renal pelvis carcinoma stage 0is carcinoma of kidney pelvis stage 0is carcinoma of renal pelvis stage 0is carcinoma of the kidney pelvis stage 0is carcinoma of the renal pelvis stage 0is kidney pelvis carcinoma stage 0is kidney renal pelvis urothelial cancer stage 0is renal pelvis cancer stage 0is renal pelvis cancer aJCC v7 stage 0is renal pelvis urothelial carcinoma stage 0is renal pelvis urothelial carcinoma aJCC v7 MONDO:0021296 carcinoma in situ of renal pelvis A cancer that involves the adrenal cortex. NCIT:C9327 SCTID:371964008 adrenal cortex cancer cancer of adrenal cortex malignant adrenal cortex neoplasm malignant adrenal cortex tumor malignant adrenocortical neoplasm malignant adrenocortical tumor malignant neoplasm of adrenal cortex malignant neoplasm of the adrenal cortex malignant tumor of the adrenal cortex MONDO:0021312 malignant tumor of adrenal cortex A neoplasm (disease) that involves the thoracic segment of trunk. ICD9:239.89 NCIT:C3406 SCTID:255058005 UMLS:C0039981 neoplasm of the thorax neoplasm of thoracic segment of trunk thoracic neoplasm thoracic segment of trunk neoplasm thoracic segment of trunk neoplasm (disease) thoracic segment of trunk tumor thoracic tumor tumor of the thorax tumor of thoracic segment of trunk tumor of thorax MONDO:0021350 neoplasm of thorax A neoplasm (disease) that involves the uterus. EFO:0003859 ICD9:239.5 NCIT:C3435 ONCOTREE:UTERUS SCTID:126908007 neoplasm of the uterus neoplasm of uterus tumor of the uterus tumor of uterus uterine neoplasm uterine neoplasms uterine tumor uterus neoplasm uterus neoplasm (disease) uterus tumor MONDO:0021353 tumor of uterus A neoplasm (disease) that involves the adipose tissue. ICD9:239.2 NCIT:C4248 SCTID:254831005 UMLS:C0206631 adipose tissue neoplasm adipose tissue neoplasm (disease) adipose tissue tumor lipomatous neoplasm lipomatous tumor neoplasm of adipose tissue neoplasm of the adipose tissue tumor of adipose tissue tumor of the adipose tissue MONDO:0021354 tumor of adipose tissue A neoplasm (disease) that involves the parathyroid gland. ICD9:239.7 NCIT:C3313 SCTID:127020005 neoplasm of parathyroid neoplasm of parathyroid gland neoplasm of the parathyroid neoplasm of the parathyroid gland parathyroid gland neoplasm parathyroid gland neoplasm (disease) parathyroid gland tumor parathyroid neoplasm parathyroid tumor tumor of parathyroid tumor of parathyroid gland tumor of the parathyroid tumor of the parathyroid gland MONDO:0021360 tumor of parathyroid gland A benign neoplasm that involves the zone of skin. ICD9:216.8 ICD9:216.9 NCIT:C2896 SCTID:92384009 UMLS:C0004998 benign cutaneous neoplasm benign cutaneous tumor benign neoplasm of the skin benign skin neoplasm benign skin tumor benign tumor of skin benign tumor of the skin skin neoplasms, benign zone of skin benign neoplasm MONDO:0021440 benign neoplasm of skin A benign neoplasm that involves the renal pelvis. EFO:1000118 ICD9:223.1 NCIT:C3616 SCTID:92319008 UMLS:C0154015 benign kidney pelvis neoplasm benign neoplasm of the renal pelvis benign renal pelvis neoplasm benign renal pelvis tumor benign tumor of renal pelvis benign tumor of the renal pelvis renal pelvis benign neoplasm MONDO:0021467 benign neoplasm of renal pelvis A benign neoplasm that involves the adrenal gland. ICD9:227.0 NCIT:C3629 SCTID:91967007 UMLS:C0154040 adrenal gland benign neoplasm benign adrenal gland neoplasm benign adrenal gland tumor benign adrenal neoplasm benign adrenal tumor benign neoplasm of the adrenal gland benign tumor of adrenal gland benign tumor of the adrenal gland MONDO:0021511 benign neoplasm of adrenal gland A hamartoma (disease) that involves the lung. ICD9:235.7 NCIT:C3497 SCTID:254644003 UMLS:C0149927 hamartoma of the lung lung chondroid hamartoma lung hamartoma lung hamartoma (disease) pulmonary hamartoma MONDO:0021540 hamartoma of lung A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle. MESH:D009379 MESH:D019042 NCIT:C4063 muscle neoplasm muscle tumor myomatous neoplasm myomatous tumor neoplasm of muscle neoplasm of the muscle tumor of muscle tumor of the muscle muscle tissue neoplasm muscle tissue neoplasms myoblastoma myoblastomas myofibroblastoma myofibroblastomas neoplasm, muscle tissue MONDO:0021545 myomatous neoplasm A disease that involves the renal tubule. ICD9:588.89 SCTID:95568003 UMLS:C0151747 disease of renal tubule disease or disorder of renal tubule disorder of renal tubule renal tubular disease renal tubular disorder renal tubule disease renal tubule disease or disorder MONDO:0021568 renal tubule disease Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. ICD9:239.2 MESH:D009372 SCTID:126598008 UMLS:C0027656 connective tissue neoplasm connective tissue neoplasm (disease) connective tissue tumor neoplasm of connective tissue neoplasm of connective tissues tumor of connective tissue tumour of connective tissue connective tissue neoplasms neoplasm, connective tissue MONDO:0021581 connective tissue neoplasm That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. disorder of neural crest cell development disorder of neural crest development neural crest cell development disease MONDO:0021635 neurocristopathy Virus diseases caused by the bunyaviridae. EFO:0007188 MESH:D002044 SCTID:105632002 Bunyaviridae caused disease or disorder Bunyaviridae disease or disorder Bunyaviridae infectious disease disease due to Bunyaviridae Bunyaviridae infection Bunyavirus infection Bunyavirus infections disease caused by Bunyaviridae disease caused by Bunyavirus disease due to Bunyavirus infections, Bunyaviridae infections, Bunyavirus MONDO:0021641 Bunyaviridae infectious disease ICD9:139.8 SCTID:123976001 MONDO:0021669 post-infectious disorder ICD9:139.8 SCTID:123948009 MONDO:0021674 post-viral disorder A Disease due to or propagated by sexual contact. ICD10:A50.A64 ICD9:099.8 ICD9:099.9 MESH:D012749 NCIT:C3365 SCTID:8098009 UMLS:C0036916 STD VD VD, venereal disease disease (VD), venereal sexually Transmitted disorder sexually transmitted disease venereal disease (VD) STDs STI STIs Transmitted infection, sexually Transmitted infections, sexually disease, sexually Transmitted disease, venereal diseases, sexually Transmitted diseases, venereal infection, sexually Transmitted infections, sexually Transmitted sexually Transmitted infection sexually Transmitted infections venereal disease venereal diseases MONDO:0021681 sexually transmitted disease Viral diseases which are potentially transmitted or propagated by sexual conduct. MESH:D015229 UMLS:C0036918 viral sexually transmitted disease disease, viral venereal diseases, viral venereal sexually Transmitted disease, viral venereal disease, viral venereal diseases, viral viral sexually Transmitted diseases viral venereal disease viral venereal diseases MONDO:0021682 viral sexually transmitted disease EFO:1001835 MESH:D053653 UMLS:C0034184 Cystopyelitis Pyelocystitis MONDO:0021746 pyelocystitis Pus within the collecting system of the kidney. MESH:D053018 NCIT:C123032 SCTID:48631008 UMLS:C0034216 pyonephrosis Hydronephrosis, Infected Infected Hydronephrosis Pyonephrosis MONDO:0021750 pyonephrosis An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion. GARD:0009213 MESH:C536588 UMLS:C2931255 atypical macular coloboInOwlma, familial juvenile nephronophthisis and skeletal abnormality MONDO:0021856 Alsing syndrome https://rarediseases.info.nih.gov/diseases/9213/alsing-syndrome GARD:0000366 MESH:C537431 UMLS:C2931492 corneal crystals myopathy and nephropathy corneal crystals myopathy and neuropathy MONDO:0021921 Arnold stickler bourne syndrome https://rarediseases.info.nih.gov/diseases/366/arnold-stickler-bourne-syndrome A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear. MESH:D006311 NCIT:C3078 SCTID:128540005 UMLS:C0260662 hearing disorder auditory alteration disorder of hearing MONDO:0021945 hearing disorder Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. EFO:1001357 MESH:D016180 UMLS:C0079680 Disease caused by Lentivirus Disease due to Lentivirus Infection, Lentivirus Infections, Lentivirus Lentivirus Infection Lentivirus Infections MONDO:0022034 lentivirus infection MONDO:0022200 This modifier may be obsoleted in favor of MAO treatment for disease MONDO:0022201 Editor note: see https://github.com/monarch-initiative/mondo-build/issues/75 has treatment by surgery Orphanet:156162 MONDO:0022409 nephropathy-associated ciliopathy Orphanet:156165 MONDO:0022410 retinal ciliopathy DOID:0040086 GARD:0010470 ICD9:079.89 SCTID:713886006 UMLS:C1697878 BK virus nephropathy BKN PVAN Polyomavirus nephropathy kidney disease caused by BK polyomavirus nephropathy caused by BK polyomavirus nephropathy from BK virus polyomavirus associated nephropathy MONDO:0022529 BK-virus nephropathy GARD:0000885 MONDO:0022572 bilateral renal agenesis dominant type https://rarediseases.info.nih.gov/diseases/885/bilateral-renal-agenesis-dominant-type Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders. DOID:1443 GARD:0006019 ICD9:331.9 NCIT:C84624 SCTID:95646004 UMLS:C0262404 Brain degeneration cerebellar Degeneration cerebellar degeneration cerebellum neurodegenerative disease neurodegenerative disease of cerebellum cerebral degeneration MONDO:0022687 cerebellar degeneration https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration MESH:C566433 UMLS:C3502510 RSTS, Severe Rubinstein-Taybi syndrome, Severe MONDO:0022752 chromosome 16p13.3 deletion syndrome MESH:C538206 UMLS:C2931773 Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea MONDO:0022948 Deal Barratt Dillon syndrome Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. primary polydipsia GARD:0010703 MESH:C548013 NCIT:C129735 SCTID:82800008 UMLS:C0268813 Dipsogenic diabetes insipidus dipsogenic diabetes insipidus MONDO:0022993 dipsogenic diabetes insipidus https://rarediseases.info.nih.gov/diseases/10703/dipsogenic-diabetes-insipidus GARD:0002371 MESH:C537272 UMLS:C2931463 MONDO:0023182 Franceschini Vardeu Guala syndrome https://rarediseases.info.nih.gov/diseases/2371/franceschini-vardeu-guala-syndrome A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low. GARD:0010702 MESH:C548014 UMLS:C2932666 Gestagenic diabetes insipidus diabetes insipidus gestational MONDO:0023227 gestational diabetes insipidus https://rarediseases.info.nih.gov/diseases/10702/gestational-diabetes-insipidus Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. GARD:0002501 HGNC:4061 MESH:C536831 UMLS:C2931345 G6P translocase deficiency SLC37A4 glycogen storage disease I glucose-6-phosphate translocase deficiency glycogen storage disease I caused by mutation in SLC37A4 MONDO:0023258 This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i glycogen storage disease type 1 due to SLC37A4 mutation https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. GARD:0002557 ICD10:Q85.8 ICD9:759.6 MESH:C537292 Orphanet:2111 SCTID:707530009 UMLS:C2931468 Graham-Boyle-Troxell syndrome cystic hamartoma of lung and kidney graham Boyle Troxell syndrome cystic hamartomata of lung and kidney MONDO:0023275 Graham-Boyle-Troxell syndrome https://rarediseases.info.nih.gov/diseases/2557/graham-boyle-troxell-syndrome A disease that involves the facial skeleton. disease of facial skeleton disease or disorder of facial skeleton disorder of facial skeleton facial skeleton disease facial skeleton disease or disorder maxillo-facial disease maxillofacial anomaly MONDO:0023369 disease of facial skeleton Either an isolated neoplasm or a syndrome with neoplasm as a major feature. neoplastic disease neoplastic disorder MONDO:0023370 neoplastic disease or syndrome GARD:0000303 MESH:C537572 UMLS:C2931535 MONDO:0023513 Editor note: TODO https://www.ncbi.nlm.nih.gov/pubmed/2325105 Jeune syndrome situs inversus https://rarediseases.info.nih.gov/diseases/303/jeune-syndrome-situs-inversus C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. GARD:0012136 SCTID:236412002 UMLS:C0403434 C1q nephropathy MONDO:0023551 C1q nephropathy An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. NCIT:C97075 SCTID:363045008 UMLS:C0410787 connective tissue hereditary disorder hereditary connective tissue disorder Connective tissue hereditary disorder Hereditary Connective Tissue Disorder Inherited disorder of connective tissue inherited disorder of connective tissue MONDO:0023603 hereditary connective tissue disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. MESH:D020271 NCIT:C97073 Orphanet:183500 UMLS:C3273225 UMLS:CN200549 genetic neurodegenerative disease hereditary neurodegenerative disease hereditary neurodegenerative disorder MONDO:0024237 inherited neurodegenerative disorder A disease that has its basis in the disruption of cardiovascular system development. ICD9:747.89 ICD9:747.9 NCIT:C35729 SCTID:9904008 cardiovascular system development disease congenital Abnormality of the circulatory system congenital anomaly of cardiovascular system congenital cardiovascular Abnormality congenital cardiovascular anomaly disorder of cardiovascular system development congenital cardiovascular disorder MONDO:0024239 congenital anomaly of cardiovascular system An instance of skin disease that is caused by a modification of the individual's genome. MESH:D012873 SCTID:239001006 genetic skin disease genodermatosis disease, genetic skin diseases, genetic skin genetic skin diseases skin disease, genetic MONDO:0024255 genetic skin disease HP:0031493 NCIT:C7132 UMLS:C1333820 glandular cell epithelial neoplasm glandular cell epithelium neoplasm glandular cell neoplasm glandular cell tumor MONDO:0024276 glandular cell neoplasm A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. NCIT:C7388 neoplasm of vascular system neoplasm of vascular tissue neoplasms, vascular tumor of vascular system tumor of vascular tissue tumors, vascular vascular neoplasm vascular neoplasms vascular system neoplasm vascular system neoplasm (disease) vascular system tumor vascular tissue neoplasm vascular tissue tumor vascular tumor vascular tumors vascular tumor, NOS MONDO:0024296 vascular neoplasm A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. ICD10:E00.E90 MESH:D009750 UMLS:C0028715 MONDO:0024297 Editor note: consider expanding to include endocrine nutritional or metabolic disease A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. EFO:0005878 ICD9:269.1 ICD9:269.2 MESH:D001361 NCIT:C35772 SCTID:85670002 UMLS:C0376286 UMLS:C1510471 avitaminosis vitamin deficiency vitamin deficiency disorder Avitaminoses deficiencies, vitamin deficiency, vitamin vitamin deficiencies MONDO:0024298 vitamin deficiency disorder An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. ICD9:757.39 SCTID:252246005 PXE pseudoxanthoma elasticum MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum A disease that has its basis in the disruption of GPI anchor biosynthetic process. GPI anchor biosynthetic process disease GPIBD disorder of GPI anchor biosynthetic process glycosylphosphatidylinositol biosynthesis defect MONDO:0024321 May be inborn or somatic disorder of GPI anchor biosynthesis A disease that has its basis in the disruption of glycosylation. disorder of glycosylation glycosylation disease MONDO:0024322 May be inborn or somatic disorder of glycosylation Impairment of the renal function due to chronic kidney damage. ICD9:585.9 MESH:D051436 NCIT:C9438 SCTID:90688005 CRF - chronic renal failure Chronic renal disease chronic kidney failure chronic renal failure chronic renal failure disease kidney failure, chronic MONDO:0024327 chronic renal failure syndrome A neoplasm involving a urothelium. NCIT:C39852 UMLS:C1519840 neoplasm of urothelium transitional cell neoplasm of the urinary tract tumor of urothelium urothelial neoplasm urothelium neoplasm urothelium neoplasm (disease) urothelium tumor MONDO:0024337 urothelial neoplasm Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. MESH:D010468 MONDO:0024417 perceptual disorders SCTID:80006005 disorder of bilirubin metabolism MONDO:0024431 bilirubin metabolism disease A disease that involves the visual system. SCTID:128127008 disease of visual system disease or disorder of visual system disorder of visual system visual system disease visual system disease or disorder visual system disorder MONDO:0024458 disease of visual system A disease that involves the cutaneous appendage. SCTID:238714008 UMLS:C0037272 cutaneous appendage disease cutaneous appendage disease or disorder disease of cutaneous appendage disease or disorder of cutaneous appendage disorder of cutaneous appendage disorder of skin appendage disease of epidermal appendage disease of epidermal appendages MONDO:0024481 skin appendage disease A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread MONDO:0024488 tumor grading characteristic A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. NCIT:C28076 disease grade qualifier MONDO:0024489 general tumor grading characteristic A morphologic qualifier indicating that a cancerous lesion is well differentiated. LOINC:LA9629-2 NCIT:C28077 UMLS:C0475269 G1 grade 1 grade I low grade well differentiated MONDO:0024491 tumor grade 1, general grading system A morphologic qualifier indicating that a cancerous lesion is moderately differentiated. EFO:0005746 NCIT:C28078 G2 grade 2 grade II intermediate grade moderately differentiated MONDO:0024492 tumor grade 2, general grading system A morphologic qualifier indicating that a cancerous lesion is poorly differentiated. high grade NCIT:C28079 UMLS:C0475271 G3 grade 3 grade III poorly differentiated MONDO:0024493 tumor grade 3, general grading system A morphologic qualifier indicating that a cancerous lesion is undifferentiated. high grade NCIT:C28082 G4 grade 4 grade IV undifferentiated MONDO:0024494 tumor grade 4, general grading system grade 1/2 MONDO:0024495 tumor grade 1 or 2, general grading system A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated. NCIT:C94678 grade 2/3 MONDO:0024496 tumor grade 2 or 3, general grading system Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive. NCIT:C14158 grade 3/4 high grade MONDO:0024497 tumor grade 3 or 4, general grading system A broad grouping of diseases based on major body subdivisions. SCTID:123946008 UMLS:C1290853 disease by body site disease of organism subdivision disorder by body site disorder of anatomical disorder of organism subdivision MONDO:0024505 disorder by anatomical region GARD:0004791 OMIM:191830 RHDA1 Selig Benacerraf Greene syndrome hereditary renal aplasia renal adysplasia renal agenesis renal aplasia renal dysplasia, megalocystis, and sirenomelia renal hypodysplasia/aplasia 1 MONDO:0024519 renal hypodysplasia/aplasia 1 EFO:0009137 OMIM:617805 UMLS:CN703737 RHDA3 renal hypodysplasia/aplasia 3 MONDO:0024520 renal hypodysplasia/aplasia 3 OMIM:134600 FRTS1 Fanconi renotubular syndrome 1 Fanconi renotubular syndrome Fanconi syndrome without cystinosis Luder-Sheldon syndrome adult Fanconi syndrome renal Fanconi syndrome MONDO:0024525 Fanconi renotubular syndrome 1 OMIM:137950 GFND1 glomerulopathy with fibronectin deposits 1 glomerulopathy with giant fibrillar deposits lobular glomerulopathy, familial MONDO:0024527 glomerulopathy with fibronectin deposits 1 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. OMIM:178600 BMPR2 primary pulmonary hypertension primary pulmonary hypertension caused by mutation in BMPR2 PHT PPH1 Pph1 with Hht pulmonary arterial hypertension pulmonary hypertension, primary, 1 pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia pulmonary hypertension, primary, Dexfenfluramine-associated pulmonary hypertension, primary, Fenfluramine-associated MONDO:0024533 pulmonary hypertension, primary, 1 A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. NCIT:C4991 UMLS:C0877121 AIDS-related complications AIDS-related disorder AIDS/HIV - relatedDisease associated with AIDS disease associated with AIDS MONDO:0024571 AIDS-related disorder A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. NCIT:C35686 UMLS:C1334159 Immunodepression-related disorder Immunosuppression disorders Immunosuppression-related disorder immunodeficiency-related disorder MONDO:0024572 immunodeficiency-related disorder Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. DOID:0080326 GARD:0007229 MESH:D024741 NCIT:C84773 OMIMPS:192600 SCTID:471885006 cardiomyopathy, familial hypertrophic familial hypertrophic cardiomyopathy hereditary hypertrophic cardiomyopathy hypertrophic familial cardiomyopathy MONDO:0024573 familial hypertrophic cardiomyopathy A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. MESH:D011248 NCIT:C35169 SCTID:173300003 complication of pregnancy or childbirth disorder of pregnancy disorder of pregnancy, childbirth, or puerperium pregnancy disease pregnancy disorder Complications, pregnancy complication, pregnancy pregnancy complication MONDO:0024575 pregnancy disorder Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. ICD9:478.19 MESH:D010038 NCIT:C118420 SCTID:232208008 UMLS:C0029896 UMLS:C0395797 ear, nose and throat disorder ear, nose or throat disorder ear/nose/throat disease otolaryngologic disorder otorhinolaryngologic disease ENT disease ENT diseases disease, ENT disease, otolaryngologic disease, otolaryngological disease, otorhinolaryngologic disease, otorhinolaryngological diseases, ENT diseases, otolaryngologic diseases, otolaryngological diseases, otorhinolaryngologic diseases, otorhinolaryngological otolaryngologic disease otolaryngologic diseases otolaryngological disease otolaryngological diseases otorhinolaryngological disease otorhinolaryngological diseases MONDO:0024623 Editor note: consider uberon class otorhinolaryngologic disease SCTID:302874002 UMLS:C0398732 defective phagocytosis phagocytic cell dysfunction MONDO:0024627 phagocytic cell dysfunction Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria. ICD9:403.90 NCIT:C4757 SCTID:38481006 hypertensive nephropathy hypertensive renal disease MONDO:0024633 hypertensive renal disease A malignant neoplasm arising exclusively from the soft tissues. NCIT:C4867 SCTID:269469005 malignant neoplasm of soft tissue malignant neoplasm of the soft tissue malignant soft tissue neoplasm malignant soft tissue tumor malignant tumor of soft tissue malignant tumor of the soft tissue MONDO:0024637 malignant soft tissue neoplasm A benign or malignant neoplasm that affects the retroperitoneum. NCIT:C3357 neoplasm of retroperitoneal space retroperitoneal neoplasm retroperitoneal space neoplasm retroperitoneal space tumor tumor of retroperitoneal space MONDO:0024645 retroperitoneal neoplasm Stone(s) within the urinary tract. DOID:0080653 ICD10:N21 NCIT:C114688 SCTID:95566004 UMLS:C0451641 calculus kidney stone urinary stones urolithiasis MONDO:0024647 urolithiasis A non-neoplastic or neoplastic disorder that affects structures of the skull. NCIT:C27655 SCTID:118945008 UMLS:C1290854 disease of skull disease or disorder of skull disorder of skull skull disease skull disease or disorder skull disorder MONDO:0024654 skull disorder A hypertensive disorder that develops during pregnancy. MONDO:0024581 MESH:D046110 NCIT:C9243 SCTID:48194001 hypertension associated disorders of pregnancy hypertension-associated pregnancy disorder pregnancy-induced hypertension gestational hypertension hypertension complicating pregnancy hypertension induced by pregnancy hypertension, gestational hypertension, pregnancy induced hypertension, pregnancy transient hypertensions, pregnancy induced induced Hypertensions, pregnancy induced hypertension, pregnancy pregnancy induced hypertension pregnancy transient hypertension transient hypertension, pregnancy MONDO:0024664 hypertension, pregnancy-induced Wilms tumor of the kidney which occurs in adults. NCIT:C6180 UMLS:C1332219 adenosarcoma of adult kidney adenosarcoma of the adult kidney adult kidney Wilms tumor adult kidney adenosarcoma adult nephroblastoma adult renal Wilms tumor adult renal Wilms' tumor adult renal adenosarcoma kidney Wilms tumor of adults MONDO:0024675 adult kidney Wilms tumor A Wilms tumor of the kidney which occurs in children. NCIT:C27730 UMLS:C1333015 Wilms tumor childhood Wilms tumor childhood kidney Wilms tumor childhood renal Wilms tumor childhood renal Wilms' tumor kidney Wilms tumor MONDO:0024676 childhood kidney Wilms tumor A mixed epithelial stromal tumor of the kidney with malignant stromal features. NCIT:C37265 UMLS:C1334602 malignant MEST malignant mixed epithelial stromal tumor of the kidney mixed epithelial stromal tumor of the kidney, malignant MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. NCIT:C4784 SCTID:721573003 cardiovascular neoplasm cardiovascular system neoplasm cardiovascular system tumor cardiovascular tumor neoplasm of cardiovascular system tumor of cardiovascular system MONDO:0024757 cardiovascular neoplasm An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. ICDO:9110/1 NCIT:C4295 Mesonephroma Wolffian duct neoplasm Wolffian duct tumor mesonephric duct neoplasm mesonephric duct tumor mesonephric neoplasm mesonephric tumor mesonephroma neoplasm of mesonephric duct tumor of mesonephric duct MONDO:0024888 mesonephric neoplasm A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants. DOID:2616 ICDO:9110/0 NCIT:C4294 UMLS:C0334530 Mesonephroma, benign Mesonephroma, benign (morphologic abnormality) Wolffian duct adenoma benign Mesonephroma benign mesonephric neoplasm mesonephric adenoma mesonephric duct adenoma mesonephric neoplasm, benign MONDO:0024889 benign mesonephroma Tumors or cancer of the urogenital system in either the male or the female. EFO:0003863 MESH:D014565 genitourinary system neoplasm genitourinary system tumor neoplasm of genitourinary system tumor of genitourinary system urogenital neoplasm genito-urinary neoplasm genito-urinary neoplasms genitourinary neoplasm genitourinary neoplasms neoplasm, genito-urinary neoplasm, genitourinary neoplasm, urogenital neoplasms, genito-urinary neoplasms, genitourinary neoplasms, urogenital MONDO:0025370 urogenital neoplasm An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. Orphanet:271847 UMLS:CN202530 hereditary neuroendocrine neoplasm genetic neuroendocrine tumor MONDO:0025511 inherited neuroendocrine tumor DOID:0070357 OMIM:301028 NEPHROTIC SYNDROME, TYPE 20 NPHS20 MONDO:0026726 nephrotic syndrome, type 20 Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. DOID:0080207 OMIM:143400 TBX18 congenital anomaly of kidney and urinary tract congenital anomalies of kidney and urinary tract type 2 congenital anomaly of kidney and urinary tract caused by mutation in TBX18 CAKUT2 congenital anomalies of kidney and urinary tract 2 hydronephrosis due to Pujo multicystic renal dysplasia, bilateral pelviureteric junction obstruction ureteropelvic junction obstruction MONDO:0027676 congenital anomalies of kidney and urinary tract 2 Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides. MESH:D064419 chemically-induced disorder chemically induced disorders disorder, chemically-induced disorders, chemically-induced MONDO:0029001 chemically-induced disorder OMIM:618126 LIDLS3 Liddle syndrome 3 MONDO:0029132 Liddle syndrome 3 OMIM:618913 FANCONI RENOTUBULAR SYNDROME 5 FRTS5 Fanconi Renotubular Syndrome, Acadian Variant Fanconi renotubular syndrome 5 MONDO:0030056 Fanconi renotubular syndrome 5 OMIM:618845 Congenital Nad Deficiency Disorder 3 VCRL3 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 vertebral, cardiac, renal, and limb defects syndrome 3 MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 OMIM:618881 Orphanet:570422 GALAC4 GALACTOSEMIA IV Galactose Mutarotase Deficiency galactosemia iv MONDO:0030105 galactosemia 4 A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. DOID:7571 ICDO:8959/1 ICDO:8959/3 NCIT:C6897 UMLS:C1266139 cystic partially differentiated nephroblastoma malignant cystic nephroma malignant multilocular cystic nephroma MONDO:0030604 cystic partially differentiated nephroblastoma An autoimmune form of glomerulonephritis (disease). DOID:0040094 autoimmune glomerulonephritis (disease) MONDO:0030700 autoimmune glomerulonephritis An autoimmune form of cardiomyopathy. DOID:0040095 MONDO:0030701 autoimmune cardiomyopathy An autoimmune form of vasculitis. DOID:0040097 SCTID:427213005 UMLS:C1328843 MONDO:0030703 autoimmune vasculitis DOID:0080392 OMIM:618176 NEPHROTIC SYNDROME, TYPE 17 NPHS17 MONDO:0032580 nephrotic syndrome, type 17 DOID:0080393 OMIM:618177 NEPHROTIC SYNDROME, TYPE 18 NPHS18 MONDO:0032581 nephrotic syndrome, type 18 DOID:0080394 OMIM:618178 NEPHROTIC SYNDROME, TYPE 19 NPHS19 MONDO:0032582 nephrotic syndrome, type 19 OMIM:618270 CAKUT3 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 MONDO:0032646 congenital anomalies of kidney and urinary tract 3 OMIM:618347 GALLOWAY-MOWAT SYNDROME 6 GAMOS6 MONDO:0032691 Galloway-Mowat syndrome 6 OMIM:618348 GALLOWAY-MOWAT SYNDROME 7 GAMOS7 MONDO:0032692 Galloway-Mowat syndrome 7 OMIM:618349 GALLOWAY-MOWAT SYNDROME 8 GAMOS8 MONDO:0032693 Galloway-Mowat syndrome 8 OMIM:618499 NOONAN SYNDROME 11 NS11 MONDO:0032786 Noonan syndrome 11 OMIM:618594 NEPHROTIC SYNDROME, TYPE 21 NPHS21 MONDO:0032826 nephrotic syndrome, type 21 OMIM:618624 NOONAN SYNDROME 12 NS12 MONDO:0032839 noonan syndrome 12 A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. DOID:0080212 OMIM:263200 polycystic kidney disease 4 PKD3 PKD3, formerly PKD4 hepatic fibrosis, congenital polycystic kidney and hepatic disease 1 polycystic kidney disease 4 with or without hepatic disease polycystic kidney disease 4 with or without polycystic liver disease polycystic kidney disease, autosomal recessive polycystic kidney disease, infantile, type 1 MONDO:0033004 polycystic kidney disease 4 DOID:0060364 OMIM:251300 UMLS:CN031715 GAMOS1 Galloway syndrome Galloway-Mowat syndrome 1 cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities microcephaly, hiatal hernia, and nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome spinocerebellar ataxia, autosomal recessive 5 spinocerebellar ataxia, autosomal recessive 5, formerly MONDO:0033005 Galloway-Mowat syndrome 1 DOID:0080244 OMIM:301006 UMLS:CN570502 GAMOS2 Galloway-Mowat syndrome 2 Galloway-Mowat syndrome 2, X-linked MONDO:0033006 Galloway-Mowat syndrome 2, X-linked DOID:0080245 OMIM:617729 UMLS:CN570505 GAMOS3 Galloway-Mowat syndrome 3 MONDO:0033007 Galloway-Mowat syndrome 3 DOID:0080246 OMIM:617730 UMLS:CN570506 GAMOS4 Galloway-Mowat syndrome 4 MONDO:0033008 Galloway-Mowat syndrome 4 DOID:0080247 OMIM:617731 UMLS:CN570507 GAMOS5 Galloway-Mowat syndrome 5 MONDO:0033009 Galloway-Mowat syndrome 5 DOID:0080253 DOID:0080276 OMIM:617562 Meckel syndrome, type 13 Joubert syndrome 29 MKS13 Meckel syndrome 13 MONDO:0033044 Meckel syndrome 13 DOID:0080265 OMIM:617575 Orphanet:506334 UMLS:CN339707 nephrotic syndrome, type 14 primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency NPHS14 familial steroid-resistant nephrotic syndrome with adrenal insufficiency nephrotic syndrome 14 MONDO:0033203 nephrotic syndrome 14 DOID:0080271 OMIM:617609 UMLS:CN388854 nephrotic syndrome, type 15 NPHS15 nephrotic syndrome 15 MONDO:0033262 nephrotic syndrome 15 DOID:0080272 OMIM:617783 UMLS:CN651336 nephrotic syndrome, type 16 NPHS16 nephrotic syndrome 16 MONDO:0033280 nephrotic syndrome 16 Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. DOID:0080273 OMIM:617610 DZIP1L polycystic kidney disease polycystic kidney disease caused by mutation in DZIP1L PKD5 polycystic kidney disease 5 MONDO:0033281 polycystic kidney disease 5 DOID:0080295 OMIM:617895 UMLS:CN842245 SRTD19 short-rib thoracic dysplasia 19 with or without polydactyly MONDO:0033485 short-rib thoracic dysplasia 19 with or without polydactyly OMIM:619087 NS13 MONDO:0033669 Noonan syndrome 13 Orphanet:544482 MONDO:0034103 infection-related hemolytic uremic syndrome Orphanet:544628 MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome DOID:0080293 OMIM:617866 UMLS:CN795020 SRTD18 short-rib thoracic dysplasia 18 with polydactyly MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly A malignant neoplasm that affects the kidney and occurs in childhood. NCIT:C123907 UMLS:C4086162 childhood kidney cancer childhood malignant kidney neoplasm childhood malignant kidney tumor childhood malignant renal neoplasm childhood malignant renal tumor kidney cancer of childhood pediatric kidney cancer MONDO:0036511 childhood malignant kidney neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) NCIT:C2858 adrenal cortex neoplasm adrenal cortex tumor adrenocortical neoplasm adrenocortical tumor neoplasm of adrenal cortex tumor of adrenal cortex MONDO:0036591 adrenal cortex neoplasm A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites. ICDO:8010/0 ICDO:8011/0 NCIT:C4092 UMLS:C0334232 benign epithelial neoplasm benign epithelial tumor benign epithelioma benign neoplasm of epithelium benign neoplasm of the epithelium benign tumor of epithelium benign tumor of the epithelium epithelial neoplasm, benign epithelioma, benign MONDO:0036976 benign epithelial neoplasm NCIT:C6783 UMLS:C0334265 transitional cell neoplasm transitional cell tumor MONDO:0037254 transitional cell neoplasm A disease that has its basis in the disruption of carbohydrate metabolic process. SCTID:20957000 carbohydrate metabolic process disease disorder of carbohydrate metabolic process disorder of carbohydrate metabolism MONDO:0037792 carbohydrate metabolism disease A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. SCTID:29094004 disorder of porphyrin metabolism disorder of porphyrin-containing compound metabolic process porphyrin-containing compound metabolic process disease disorder of porphyrin and heme metabolism MONDO:0037821 porphyrin metabolism disease A disease that has its basis in the disruption of purine nucleobase metabolic process. SCTID:32612005 UMLS:C0268104 disorder of purine metabolism disorder of purine nucleobase metabolic process purine nucleobase metabolic process disease MONDO:0037829 purine metabolism disease A disease that has its basis in the disruption of cellular amino acid metabolic process. NCIT:C97090 SCTID:44779003 amino acid metabolism disorder cellular amino acid metabolic process disease disorder of amino acid metabolism disorder of cellular amino acid metabolic process amino acid disorder amino acidopathy MONDO:0037871 amino acid metabolism disease An instance of auditory system disease that is caused by an inherited modification of the individual's genome. SCTID:362991006 UMLS:C1285174 auditory system hereditary disorder hereditary auditory system disease MONDO:0037940 inherited auditory system disease A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. NCIT:C9480 UMLS:C1334274 invasive carcinoma MONDO:0040677 invasive carcinoma A invasive carcinoma that involves the urothelium. NCIT:C39853 UMLS:C1512751 infiltrating transitional cell carcinoma of the urinary tract infiltrating urothelial carcinoma MONDO:0040678 infiltrating urothelial carcinoma A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. EFO:0008528 NCIT:C4030 UMLS:C2145472 Uroepithelial carcinoma transitional cell car. -uroth. transitional cell carcinoma of the urinary tract transitional cell carcinoma of the urothelial tract urothelial carcinoma MONDO:0040679 urothelial carcinoma A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink. MONDO:0040870 primary polydipsia SCTID:26436007 UMLS:C0268029 disorder of acid-base balance disturbance of acid-base balance MONDO:0041261 disorder of acid-base balance Acute form of kidney papillary necrosis. SCTID:270494003 acute kidney papillary necrosis acute papillary necrosis kidney papillary necrosis, acute acute necrotizing papillitis acute renal medullary necrosis MONDO:0041295 acute papillary necrosis A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. MESH:D004198 diatheses diathesis disease susceptibilities susceptibilities, disease susceptibility, disease MONDO:0042489 disease susceptibility An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. GARD:0004174 hereditary osteosclerosis MONDO:0042973 familial osteosclerosis A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. MESH:D014804 NCIT:C35129 SCTID:47903000 UMLS:C0042850 deficiencies, vitamin B deficiency, vitamin B vitamin B deficiencies MONDO:0042976 vitamin B deficiency A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. MESH:D020752 NCIT:C84348 SCTID:78572006 UMLS:C0265316 neurocutaneous syndrome Phacomatoses Phacomatosis Phakomatoses neurocutaneous disorder neurocutaneous disorders neuroectodermal dysplasia neuroectodermal dysplasia syndrome neuroectodermal dysplasia syndromes phakomatosis syndrome, neurocutaneous syndrome, neuroectodermal dysplasia syndromes, neurocutaneous syndromes, neuroectodermal dysplasia MONDO:0042983 A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category neurocutaneous syndrome An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. Orphanet:183533 hereditary multiple congenital anomalies/dysmorphic syndrome MONDO:0043005 genetic multiple congenital anomalies/dysmorphic syndrome An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome. Orphanet:330197 genetic MCA/variable MR genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. Orphanet:330206 genetic MCA genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism) hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0043009 genetic lethal multiple congenital anomalies/dysmorphic syndrome GARD:0000349 MESH:C537386 UMLS:C2931479 CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr Maccario Mena weir syndrome MONDO:0043075 neuroaxonal dystrophy renal tubular acidosis GARD:0003157 MESH:C538131 UMLS:C2931742 hereditary renal disease and preauricular pits MONDO:0043112 lachiewicz sibley syndrome GARD:0003945 MESH:C536403 UMLS:C2931188 Glastre Cochat Bouvier syndrome familial infantile nephrotic syndrome with ocular abnormalities MONDO:0043156 nephrotic syndrome ocular anomalies GARD:0005428 MESH:C536477 SCTID:18241005 UMLS:C0265363 early urethral obstruction sequence EUOS renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction MONDO:0043207 urethral obstruction sequence A disorder of the nervous system related to a vascular etiology. NCIT:C117007 UMLS:C3898144 disease of nervous system vasculature nervous system disorder of vasculature neurovascular disorder vasculature nervous system disorder MONDO:0043218 neurovascular disease Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. GARD:0009907 MESH:C538250 SCTID:238935002 UMLS:C0406645 amyopathic dermatomyositis dermatomyositis sine myositis ADM MONDO:0043317 amyopathic dermatomyositis A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system. NCIT:C35503 SCTID:715852004 digestive system infection gastrointestinal infection gastrointestinal system infection infection of gastrointestinal tract MONDO:0043424 digestive system infectious disease A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. MESH:D000016 NCIT:C26684 Orphanet:521132 SCTID:85983004 UMLS:C1527225 radiation-induced Abnormality radiation-induced abnormalities radiation-induced disorder Abnormality, radiation-induced abnormalities, radiation induced radiation induced abnormalities MONDO:0043459 radiation-induced disorder An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. MESH:D000257 NCIT:C115149 SCTID:25225006 UMLS:C0001486 Adenoviridae caused disease or disorder Adenoviridae disease or disorder Adenoviridae infectious disease adenoviridae infectious disease adenovirus infection disease due to adenovirus Adenoviridae infection adenovirus infections disease caused by adenovirus infection, Adenoviridae infection, adenovirus infections, Adenoviridae infections, adenovirus MONDO:0043479 Editor note: check adenovirus vs adenoviridae adenoviridae infectious disease An inflammatory process affecting an artery. EFO:0009011 HP:0012089 MESH:D001167 NCIT:C34399 SCTID:52089001 arteritis artery inflammation inflammation of artery Arteritides Inflammation, arterial arterial Inflammation MONDO:0043494 arteritis A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle. MESH:D003444 SCTID:23697004 crush syndrome acute renal failure due to rhabdomyolysis bywaters' syndrome crush kidney crush syndromes ischemic muscular necrosis syndrome myoglobinuric acute renal failure myoglobinuric nephrosis renal failure following crushing injury syndrome, crush syndromes, crush MONDO:0043549 crush syndrome Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. MESH:D011696 NCIT:C26870 SCTID:302873008 UMLS:C0857305 thrombocytopenic purpura purpura, thrombopenic purpuras, thrombocytopenic purpuras, thrombopenic thrombocytopenic purpuras thrombopenic purpura thrombopenic purpuras MONDO:0043768 thrombocytopenic purpura Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features. EFO:1001453 MESH:D020945 NCIT:C116919 CNS lupus central nervous system lupus Meningoencephalitides, lupus central nervous system lupus vasculitis central nervous system systemic lupus Erythematosis lupus Meningoencephalitides lupus meningoencephalitis meningoencephalitis, lupus neuropsychiatric systemic lupus erythematosus systemic lupus Erythematosis, central nervous system MONDO:0043985 central nervous system lupus A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. EFO:0008619 NCIT:C117104 Orphanet:46489 SCTID:239889005 UMLS:C0409977 BSLE bullous systemic lupus erythematosus MONDO:0044113 bullous systemic lupus erythematosus Any disease affecting the vitreous body of the eye. EFO:0008624 ICD9:379.29 NCIT:C45256 SCTID:76682005 UMLS:C0155365 disease of vitreous body disease or disorder of vitreous body disorder of vitreous body vitreous body disease vitreous body disease or disorder vitreous body disorder MONDO:0044137 vitreous body disorder The inheritance of only one mutated beta-globin allele (beta+ or beta0). ICD10:D56.3 MedDRA:10054662 SCDO:0000114 SCTID:19442009 beta thalassemia trait MONDO:0044210 thalassemia minor BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). OMIM:617406 UMLS:C4319932 BBS21 Bardet-Biedl syndrome 21 MONDO:0044308 bardet-biedl syndrome 21 OMIM:617784 UMLS:CN653907 FANCW Fanconi anemia, complementation group W MONDO:0044325 Fanconi anemia, complementation group W Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). OMIM:617925 UMLS:CN902090 SRTD20 short-rib thoracic dysplasia 20 with polydactyly MONDO:0044328 short-rib thoracic dysplasia 20 with polydactyly A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. NCIT:C3810 connective and soft tissue neoplasm connective and soft tissue tumor musculoskeletal and soft tissue neoplasm musculoskeletal and soft tissue tumor neoplasm of skeletal and soft tissue neoplasm of soft tissue and bone neoplasm of soft tissue and skeleton skeletal and soft tissue neoplasm skeletal and soft tissue tumor soft tissue and bone neoplasm soft tissue and bone tumor tumor of skeletal and soft tissue tumor of soft tissue and bone tumor of soft tissue and skeleton MONDO:0044334 Editor note: we follow NCIT in making this a grouping of all soft tissue and connective tissue neoplasms, including bone connective and soft tissue neoplasm A non-metastasizing neoplasm that arises from the soft tissue. ICDO:8800/0 NCIT:C4242 SCTID:92069005 UMLS:C0334450 benign neoplasm of soft tissue benign neoplasm of the soft tissue benign soft tissue neoplasm benign soft tissue tumor benign tumor of soft tissue benign tumor of the soft tissue soft tissue neoplasm, benign MONDO:0044335 benign soft tissue neoplasm A disease or disorder that involves the erythrocyte. ICD9:289.9 SCTID:38292009 UMLS:C0221016 disease of erythrocyte disease or disorder of erythrocyte disorder of erythrocyte erythrocyte disease erythrocyte disease or disorder red blood cell disease red blood cell disorder MONDO:0044347 erythrocyte disease ICD9:282.7 SCTID:80141007 hemoglobinopathy globin abnormality hemoglobin disease hemoglobin disorder MONDO:0044348 hemoglobinopathy OMIM:617595 Orphanet:505242 UMLS:CN353477 Cerebrorenal syndrome, Perez type BILAPES Birk-Landau-Perez syndrome MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. GTR:AN0096391 GTR:AN0096395 GTR:AN0200342 GTR:AN0255485 NCIT:C122798 SCTID:236381000 UMLS:CN034406 nephrotic syndrome of childhood - steroid resistant nephrotic syndrome-steroid-resistant steroid-resistant nephrotic syndrome nephrotic syndrome, idiopathic, steroid-resistant nephrotic syndrome, steroid-resistant, autosomal recessive NPHS2 SRNS - steroid-resistant nephrotic syndrome steroid-unresponsive nephrotic syndrome MONDO:0044765 steroid-resistant nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. NCIT:C122797 SCTID:236380004 UMLS:C0403396 nephrotic syndrome of childhood - steroid sensitive steroid-responsive nephrotic syndrome steroid-sensitive nephrotic syndrome MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive An instance of dystonic disorder that is caused by an inherited modification of the individual's genome. NCIT:C35527 OMIMPS:128100 Orphanet:391799 UMLS:CN227322 familial dystonia hereditary dystonic disorder rare genetic dystonia rare genetic dystonic disorder MONDO:0044807 inherited dystonia A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. NCIT:C27134 HEMOLYMPHORETICULAR tumor, malignant hematologic cancer hematologic malignancy hematologic neoplasm hematological neoplasm hematological tumor hematopoietic and lymphoid cell neoplasm hematopoietic and lymphoid neoplasms hematopoietic cancer hematopoietic cell tumor hematopoietic malignancy, NOS hematopoietic neoplasm hematopoietic neoplasms including Lymphomas hematopoietic tumor hematopoietic, Including myeloma malignant hematologic neoplasm malignant hematopoietic neoplasm MONDO:0044881 hematopoietic and lymphoid cell neoplasm A primary or metastatic malignant neoplasm that affects the renal pelvis. NCIT:C7525 cancer of renal pelvis malignant neoplasm of renal pelvis malignant neoplasm of the renal pelvis malignant renal pelvis neoplasm malignant renal pelvis tumor malignant tumor of renal pelvis malignant tumor of the renal pelvis renal pelvis cancer MONDO:0044919 malignant renal pelvis neoplasm A disease or disorder that involves the abdominal segment of trunk. SCTID:609618002 UMLS:C3661988 abdominal segment of trunk disease abdominal segment of trunk disease or disorder disease of abdominal segment of trunk disease or disorder of abdominal segment of trunk disorder of abdominal segment of trunk MONDO:0044965 abdominal and pelvic region disorder A disease or disorder that involves the limb. ICD9:V49.1 SCTID:128605003 UMLS:C1290877 disease of limb disease or disorder of limb disorder of extremity disorder of limb limb disease limb disease or disorder MONDO:0044967 limb disorder MONDO:0044969 disease of membrane bound organelle MONDO:0044970 mitochondrial disease MONDO:0044971 disease of macromolecular complex MONDO:0044974 disease of supramolecular complex MONDO:0044975 disease of transporter activity SCTID:78548001 UMLS:C0520572 enzyme disorder enzymopathy MONDO:0044976 disease of catalytic activity MONDO:0044979 disease by cell type MONDO:0044980 disease of signal transduction A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. NCIT:C4502 adipose tissue benign connective and soft tissue neoplasm benign adipose tissue neoplasm benign adipose tissue tumor benign connective and soft tissue neoplasm of adipose tissue benign lipomatous neoplasm benign lipomatous tumor benign neoplasm of adipose tissue benign neoplasm of the adipose tissue benign tumor of adipose tissue benign tumor of the adipose tissue MONDO:0044983 benign lipomatous neoplasm A disease or disorder that involves the lymphoid system. SCTID:111590001 disease of lymphoid system disease or disorder of lymphoid system disorder of lymphoid system lymphoid system disease lymphoid system disease or disorder MONDO:0044986 lymphoid system disease A disease or disorder that involves the face. SCTID:118930001 UMLS:C1290857 disease of face disease or disorder of face disorder of face face disease face disease or disorder MONDO:0044987 face disease A disease or disorder that involves the upper digestive tract. SCTID:119291004 disease of upper digestive tract disease or disorder of upper digestive tract disorder of upper digestive tract disorder of upper gastrointestinal tract upper digestive tract disease or disorder upper gastrointestinal tract disease MONDO:0044991 upper digestive tract disease A disease or disorder that involves the cardiac ventricle. SCTID:415991003 UMLS:C1562298 cardiac ventricle disease cardiac ventricle disease or disorder disease of cardiac ventricle disease or disorder of cardiac ventricle disorder of cardiac ventricle MONDO:0045001 cardiac ventricle disease A disease that has its basis in the disruption of cholesterol metabolic process. SCTID:123963007 UMLS:C0342877 cholesterol metabolic process disease cholesterol metabolism disease disorder of cholesterol metabolic process disorder of cholesterol metabolism MONDO:0045008 Examples: disorder of cholesterol catabolism (disorder), disorder of cholesterol synthesis (disorder) cholesterol metabolism disease A disease that has its basis in the disruption of glycoprotein metabolic process. SCTID:238045003 UMLS:C0342844 disorder of glycoprotein metabolic process disorder of glycoprotein metabolism glycoprotein metabolic process disease glycoprotein metabolism disease MONDO:0045010 Examples: alpha-n-acetylgalactosaminidase deficiency (disorder), carbohydrate-deficient glycoprotein syndrome (disorder), alpha-1-antitrypsin deficiency (disorder), alpha-2-antitrypsin deficiency (disorder), sialidosis (disorder), aspartylglucosaminuria (disorder), fucosidosis (disorder), mannosidosis (disorder), i-cell disease (disorder), glycoprotein storage disorder (disorder) glycoprotein metabolism disease A disease that has its basis in the disruption of steroid metabolic process. SCTID:28710006 UMLS:C0268283 disorder of steroid metabolic process disorder of steroid metabolism steroid metabolic process disease steroid metabolism disease MONDO:0045012 steroid metabolism disease A disease that has its basis in the disruption of carbohydrate transport. SCTID:54905006 UMLS:C0268173 carbohydrate transport disease disorder of carbohydrate transport MONDO:0045015 carbohydrate transport disease A disease that has its basis in the disruption of cholesterol biosynthetic process. SCTID:238036004 UMLS:C0342829 cholesterol synthesis disease disorder of cholesterol biosynthetic process disorder of cholesterol synthesis MONDO:0045017 cholesterol biosynthetic process disease A disease that has its basis in the disruption of organic acid metabolic process. ICD9:277.89 SCTID:116021002 disorder of organic acid metabolic process disorder of organic acid metabolism organic acid metabolic process disease organic acid metabolism disorder MONDO:0045022 disorder of organic acid metabolism Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. MONDO:0045024 cell proliferation disorder A disease or disorder that is induced by either chemical or radiation exposure. MONDO:0045028 radiation or chemically induced disorder MONDO:0045034 infectious disease characteristic A characteristic of an infectious disease in which the disease affects an immunologically normal host. MONDO:0045036 primary infectious A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. NCIT:C34943 toxemia of pregnancy MONDO:0045048 toxemia of pregnancy A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). NCIT:C8278 UMLS:C0280950 cancer related problem/condition cancer-related condition cancer-related problem or condition oncologic complications problem/condition, cancer related problem/condition, cancer-related MONDO:0045054 cancer-related condition OMIM:617405 SRTD17 short-rib thoracic dysplasia 17 with or without POLYDACTYLY MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly OMIM:107480 TBS1 Townes-Brocks syndrome 1 Townes-Brocks-branchiootorenal-like syndrome anus, imperforate, with hand, Foot, and Ear anomalies deafness, sensorineural, with imperforate anus and thumb anomalies rear syndrome renal-ear-anal-radial syndrome MONDO:0054581 Townes-Brocks syndrome 1 OMIM:617466 TBS2 Townes-Brocks syndrome 2 MONDO:0054582 Townes-Brocks syndrome 2 DOID:0111405 OMIM:219000 FRASRS1 Fraser syndrome Fraser syndrome 1 cryptophthalmos with Other malformations cryptophthalmos-syndactyly syndrome MONDO:0054737 Fraser syndrome 1 DOID:0111407 OMIM:617666 UMLS:C4540036 FRASRS2 Fraser syndrome 2 MONDO:0054738 Fraser syndrome 2 DOID:0111406 OMIM:617667 UMLS:C4540040 FRASRS3 Fraser syndrome 3 MONDO:0054739 Fraser syndrome 3 OMIM:617883 FANCS Fanconi anemia, complementation GROUP S MONDO:0054748 Fanconi anemia, complementation group S Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. OMIM:618061 UMLS:CN252647 DNAJB11 polycystic kidney disease polycystic kidney disease caused by mutation in DNAJB11 PKD6 polycystic kidney disease 6 with or without polycystic liver disease MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease Renal damage and impaired renal function secondary to urinary tract obstruction. DOID:0070314 ICD9:593.89 NCIT:C120902 SCTID:86249007 UMLS:C0149939 congenital obstructive nephropathy obstructive nephropathy MONDO:0056796 obstructive nephropathy A disease that has its basis in the disruption of sulfur compound metabolic process. SCTID:123809005 UMLS:C1263724 disorder of sulfur compound metabolic process disorder of sulfur metabolic process disorder of sulfur metabolism disorder of sulphur metabolism sulfur compound metabolic process disease MONDO:0056803 sulfur metabolism disease OMIM:617660 UMLS:C4540004 3-hydroxyanthranilic acidemia VCRL1 congenital NAD deficiency Disorder 1 vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 OMIM:617661 UMLS:C4540014 VCRL2 congenital NAD deficiency disorder 2 kynureninase deficiency, complete vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 OMIM:617671 Orphanet:528105 UMLS:C4522164 HELIX hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome HELIX syndrome hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia MONDO:0060564 HELIX syndrome Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. NCIT:C4377 adult Fanconi syndrome adult Fanconi's syndrome MONDO:0060778 adult Fanconi syndrome Fanconi Syndrome caused by exposure to noxious agents. NCIT:C78296 SCTID:236467001 UMLS:C0341702 acquired Fanconi syndrome MONDO:0060779 acquired Fanconi syndrome MESH:C535269 UMLS:C2930859 Fanconi syndrome caused by degraded tetracycline MONDO:0060781 Preeyasombat-Varavithya syndrome An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. 2018-05-23T00:32:51Z GARD:0012034 SCTID:724809006 UMLS:C3203657 AIR autoimmune disease of retina retina autoimmune disease MONDO:0100014 autoimmune retinopathy Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy. 2018-06-23T18:55:00Z MONDO:0100033 metabolic epilepsy An epilepsy syndrome that has an onset during variable ages and stages of life. 2018-06-23T19:42:08Z variable age at onset electroclinical syndrome DOID:0050706 http://orcid.org/0000-0001-8486-0558 MONDO:0100036 variable age onset epilepsy A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli. 2018-12-17T22:24:52Z neuroendocrine system disease MONDO:0100070 neuroendocrine disease An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. GARD:0009643 inherited Gronblad Strandberg syndrome inherited PXE MONDO:0100091 Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues inherited pseudoxanthoma elasticum https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum http://orcid.org/0000-0001-5208-3432 MONDO:0100110 adenovirus renal infection An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. http://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-2825-0621 vector-borne infection vector-borne infectious disease MONDO:0100120 vector-borne disease Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. STS short telomere syndrome MONDO:0100137 telomere syndrome An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. MESH:C535335 NCIT:C129932 OMIM:219800 UMLS:C2930877 Abderhalden Kaufmann Lignac syndrome Abderhalden Lignac Kaufmann disease Abderhalden-Kaufmann-Lignac syndrome Abderhalden-Lignac-Kaufmann disease CTNS cystinosis, nephropathic MONDO:0100151 nephropathic cystinosis An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. http://orcid.org/0000-0001-5208-3432 NCIT:C131677 OMIM:261100 MGA-1 MGA1 Mga1 enterocyte cobalamin malabsorption enterocyte intrinsic factor receptor, defect of megaloblastic Anemia type 1 megaloblastic anemia, 1 megaloblastic anemia, Finnish type pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria MONDO:0100156 Imerslund-Grasbeck syndrome type 1 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). http://orcid.org/0000-0001-5208-3432 OMIM:618882 megaloblastic anemia, Norwegian type MONDO:0100157 Imerslund-Grasbeck syndrome type 2 Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. http://orcid.org/0000-0001-5208-3432 hyperkalemic RTA type 4 RTA type 4 renal tubular acidosis MONDO:0100161 hyperkalemic renal tubular acidosis http://orcid.org/0000-0001-5208-3432 mental retardation, autosomal dominant OMIMPS:156200 autosomal dominant intellectual disability MONDO:0100172 intellectual disability, autosomal dominant An instance of cutis laxa that is inherited. http://orcid.org/0000-0001-5208-3432 OMIMPS:134600 hereditary Fanconi renotubular syndrome MONDO:0100238 inherited Fanconi renotubular syndrome An instance of thrombocytopenia that is inherited. http://orcid.org/0000-0001-5208-3432 OMIMPS:313900 hereditary thrombocytopenia MONDO:0100241 inherited thrombocytopenia An instance of paroxysmal nocturnal hemoglobinuria that is inherited. http://orcid.org/0000-0001-5208-3432 OMIMPS:300818 hereditary paroxysmal nocturnal hemoglobinuria MONDO:0100243 inherited paroxysmal nocturnal hemoglobinuria An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired. http://orcid.org/0000-0001-5208-3432 MONDO:0100244 paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. http://orcid.org/0000-0001-5208-3432 DOID:0060284 GARD:0007337 HGNC:8957 HP:0004818 ICD10:D59.1 ICD10:D59.5 ICD10:D59.6 MedDRA:10034042 NCIT:C61233 Orphanet:447 SCTID:1963002 UMLS:C0019050 UMLS:C0024790 Marchiafava-Micheli disease PNH paroxysmal hemoglobinuria MONDO:0100245 acquired paroxysmal nocturnal hemoglobinuria https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations. http://orcid.org/0000-0001-5208-3432 MONDO:0100284 X-linked intellectual disability https://github.com/monarch-initiative/mondo/issues/2670 Pathological structure or process MPATH:0 pathological entity The sum of morphological and functional disturbances induced by cell and tissue damage, either from intrinsic gene dysfunction or as a result of external factors. MPATH:1 cell and tissue damage Phenotypic observation of the presence or absence of a pathological entity. MPATH:1000 pathological phenotype observation A pathological process of loss or degradation of function, or structural integrity, of a tissue, organ or cell. MPATH:14 process of degenerative change The process, normal or abnormal, of damage repair or wound closure. MPATH:175 healing and repair process Replacement of connective tissue by fibro-fatty deposits and scar tissue. MPATH:176 connective tissue replacement Any pathological thickening or hardening of a tissue. Induration MPATH:184 sclerosis Inappropriate or aberrant activation or suppression of the immune or inflammatory response. MPATH:188 immunopathological process Tissue response to inappropriate immune/inflammatory process. MPATH:194 immune mediated disease Renal disease characterised by diffuse inflammatory changes in glomeruli not in response to an infectious agent or treatment. MPATH:197 glomerulonephritis A tissue reaction to an internal or external injury. MPATH:212 inflammation Degenerative process characteristic of a particular tissue. MPATH:25 tissue specific degenerative process Characterised by irregular lipid deposits in the wall of arteries, causing narrowing of their lumens and proceeding eventually to fibrosis and calcification. MPATH:28 Note that in mouse and rats the initial lesions are mostly in the medial layer while in human they occur in the intima. atherosclerosis Accumulation of substances within, on the surface of or between cells. MPATH:33 intracellular and extracellular accumulation Extracellular deposition of amyloid protein. Amyloidosis MPATH:34 Any group of chemically diverse proteins that appears microscopically homogeneous, but is composed of linear non-branching aggregated fibrils aranged in sheets when see under the electron microscope. amyloid deposition Intra or extracellular deposition of calcium usually as calcium phosphate. MPATH:36 calcium deposition Developmental and structural abnormalities occurring during embryonic development or during adult life. MPATH:55 developmental and structural abnormality Deposition of any homogeneous inorganic material. MPATH:555 mineralisation Structural, physical or other general defect of prenatal development of the embryo and the placenta, or such as are acquired in the adult. MPATH:56 developmental or adult structural defect Persistence of metanephrogenic blastema or its presence in the wrong place or at the wrong time. Associated with hyperplastic nephrogenic rests. MPATH:574 nephroblastomatosis The organic response of tissues to external insult, injury or underlying genetic or epigenetic lesion. MPATH:596 pathological process Processes occurring during cell and tissue damage of either intrinsic or extrinsic etiology. MPATH:597 cell and tissue damage process developmental process abnormalities MPATH:599 developmental process abnormalities Anatomically located instance of pathological response or entity. MPATH:603 pathological anatomical entity Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. MPATH:607 healing and repair structure A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. MPATH:608 Generally occur following damage or infection with subsequent inflammatory response. Result of the body`s defensive reaction to foreign material. abscess Formation of an epithelium bounded cavity not associated with neoplasia. MPATH:62 cyst Abnormal retention of lipids within a cell. Physically apparent as lipid within liposomes of parenchymal cells. lipidosis adipose degeneration fatty change fatty degeneration MPATH:622 Most commonly associated with degenerative change in the liver. steatosis Abnormal development (of organs or tissues) or an abnormal structure resulting from such growth. MPATH:64 The word dysplasia as commonly used refers to a precursor state to neoplasia. This is not the context used for this MPATH term. developmental dysplasia A focal malformation resembling a neoplasm which results from faulty development of an organ; composed of an abnormal mixture of tissue elements, or an abnormal proportion of a single element. Growth and location are usually normal for that tissue cf. Heterotopia/Choristoma MPATH:76/MPATH:477. MPATH:74 hamartoma GC_ID:1 PMID:15371245 ncbi_taxonomy NCBITaxon:10066 Muridae GC_ID:1 Mus mice mouse ncbi_taxonomy NCBITaxon:10088 Mus <genus> NCBITaxon:85055 GC_ID:1 house mouse mouse ncbi_taxonomy NCBITaxon:10090 Mus musculus GC_ID:1 rat rats ncbi_taxonomy NCBITaxon:10114 Rattus NCBITaxon:36465 GC_ID:1 Norway rat brown rat rat rats ncbi_taxonomy NCBITaxon:10116 Rattus norvegicus GC_ID:1 ncbi_taxonomy NCBITaxon:10128 Apodemus Viruses GC_ID:1 ncbi_taxonomy Vira Viridae viruses NCBITaxon:10239 Viruses GC_ID:1 mammalian hepatitis B-type viruses ncbi_taxonomy Orthohepadnavirus HBV GC_ID:1 Human hepatitis B virus hepatitis B virus (HBV) hepatitis B virus HBV hepatitis B virus, HBV human hepatitis B virus HBV ncbi_taxonomy Hepatitis B virus GC_ID:1 ncbi_taxonomy NCBITaxon:10508 Adenoviridae GC_ID:1 ncbi_taxonomy NCBITaxon:11632 Retroviridae GC_ID:1 Lentivirinae ncbi_taxonomy NCBITaxon:11646 Lentivirus GC_ID:1 Primate immunodeficiency viruses ncbi_taxonomy NCBITaxon:11652 Primate lentivirus group HIV HIV-1 HIV1 LAV-1 GC_ID:1 human immunodeficiency virus 1 HIV-1 human immunodeficiency virus HIV-1 human immunodeficiency virus type 1 HIV 1 human immunodeficiency virus type 1 HIV1 human immunodeficiency virus type 1, HIV-1 human immunodeficiency virus type I HIV-1 human immunodeficiency virus type-1 HIV-1 human immunodeficiency virus-1 HIV-1 ncbi_taxonomy AIDS virus Human immunodeficiency virus type 1 human immunodeficiency virus type 1 HIV-1 NCBITaxon:11676 Human immunodeficiency virus 1 HIV HIV-2 HIV2 LAV-2 GC_ID:1 HIV type 2 Human immunodeficiency virus type 2 Human immunodeficiency virus-2 human immunodeficiency virus type 2 HIV-2 human immunodeficiency virus type 2, HIV-2 ncbi_taxonomy AIDS virus NCBITaxon:11709 Human immunodeficiency virus 2 GC_ID:1 ncbi_taxonomy NCBITaxon:117570 Teleostomi Euteleostomi bony vertebrates NCBITaxon:40673 GC_ID:1 bony vertebrates ncbi_taxonomy NCBITaxon:117571 Euteleostomi GC_ID:1 ncbi_taxonomy NCBITaxon:1206794 Ecdysozoa GC_ID:1 ncbi_taxonomy NCBITaxon:1206795 Lophotrochozoa GC_ID:11 PMID:11321122 PMID:11542017 PMID:11837318 PMID:16280474 purple bacteria purple bacteria and relatives purple non-sulfur bacteria purple photosynthetic bacteria purple photosynthetic bacteria and relatives ncbi_taxonomy proteobacteria Proteobacteria GC_ID:11 PMID:16280474 ncbi_taxonomy Gammaproteobacteria Garrity et al. 2005 Proteobacteria gamma subdivision Purple bacteria, gamma subdivision g-proteobacteria gamma proteobacteria gamma subdivision gamma subgroup Gammaproteobacteria NCBITaxon:31968 GC_ID:11 PMID:10555317 PMID:11034484 PMID:11542017 PMID:15143038 PMID:25403554 PMID:26654112 PMID:29458499 low G+C Gram-positive bacteria low GC Gram+ ncbi_taxonomy Bacillaeota Bacillota Bacillus/Clostridium group Clostridium group firmicutes Firmacutes Low G+C firmicutes clostridial firmicutes firmicutes Firmicutes HIV GC_ID:1 ncbi_taxonomy AIDS virus NCBITaxon:12721 Human immunodeficiency virus GC_ID:1 gamophytes ncbi_taxonomy Conjugatophyceae Gamophyceae Gamophyta Zygnematophyceae NCBITaxon:131209 Zygnemophyceae GC_ID:1 charophyte/embryophyte group ncbi_taxonomy Charophyta/Embryophyta group NCBITaxon:131221 Streptophytina GC_ID:1 PMID:22839753 PMID:25450099 ncbi_taxonomy Archosauria-Testudines Testudines + Archosauria group NCBITaxon:1329799 Archelosauria GC_ID:1 ncbi_taxonomy NCBITaxon:1338369 Dipnotetrapodomorpha GC_ID:1 PMID:11062127 PMID:9342353 ncbi_taxonomy Eumycetozoa Zopf, 1884 Mycetozoa mycetozoans NCBITaxon:142796 Eumycetozoa GC_ID:1 PMID:11743200 PMID:11791233 ncbi_taxonomy Boreotheria NCBITaxon:1437010 Boreoeutheria GC_ID:1 ncbi_taxonomy NCBITaxon:1437180 Acrogymnospermae GC_ID:1 ncbi_taxonomy NCBITaxon:1445966 Gnetidae GC_ID:1 true yeasts ncbi_taxonomy NCBITaxon:147537 Saccharomycotina GC_ID:1 ncbi_taxonomy Archiascomycota NCBITaxon:147554 Schizosaccharomycetes NCBITaxon:69207 GC_ID:11 PMID:26643615 PMID:27488356 ncbi_taxonomy Anaerobacter Clostridium GC_ID:11 ncbi_taxonomy Bacillus tetani Clostridium tetani GC_ID:1 ncbi_taxonomy NCBITaxon:151341 Polyomaviridae NCBITaxon:85003 GC_ID:11 PMID:10028260 PMID:11155976 PMID:11321122 PMID:19244447 PMID:28840812 PMID:30186281 Actinobacteria high G+C Gram-positive bacteria ncbi_taxonomy Actinomycetes High GC gram-positive bacteria high GC Gram+ NCBITaxon:1760 Actinobacteria <high GC Gram+> GC_ID:11 PMID:19244447 PMID:29497402 PMID:30186281 ncbi_taxonomy NCBITaxon:1762 Mycobacteriaceae GC_ID:11 PMID:1380284 PMID:1581193 PMID:16014496 PMID:1883713 PMID:2275850 PMID:29497402 PMID:7547284 PMID:7547304 PMID:7907223 PMID:8863452 ncbi_taxonomy NCBITaxon:1763 Mycobacterium NCBITaxon:2528440 GC_ID:11 PMID:29205127 ncbi_taxonomy Bacillus tuberculosis Bacterium tuberculosis Mycobacterium tuberculosis typus humanus Mycobacterium tuberculosis var. hominis Mycobacterium tuberculosis variant tuberculosis NCBITaxon:1773 Mycobacterium tuberculosis GC_ID:11 PMID:18988685 PMID:23851394 ncbi_taxonomy NCBITaxon:1783272 Terrabacteria group GC_ID:1 ncbi_taxonomy NCBITaxon:186623 Actinopteri GC_ID:1 ncbi_taxonomy NCBITaxon:1891714 Betapolyomavirus NCBITaxon:10575 NCBITaxon:10629 NCBITaxon:38015 BKV GC_ID:1 BK polyomavirus BK virus BK virus BKV Human polyomavirus (type BK) Human polyomavirus BK Human polyomavirus BKV Papovavirus BKV human polyomavirus type BK BKV polyomavirus BK ncbi_taxonomy Polyomavirus hominis 1 NCBITaxon:1891762 Human polyomavirus 1 GC_ID:1 mice and others ncbi_taxonomy Sciurognathi NCBITaxon:1963758 Myomorpha GC_ID:1 ncbi_taxonomy NCBITaxon:1980410 Bunyavirales GC_ID:1 ncbi_taxonomy NCBITaxon:1980413 Hantaviridae NCBITaxon:11571 GC_ID:1 Bunyaviridae ncbi_taxonomy NCBITaxon:1980416 Peribunyaviridae NCBITaxon:11598 GC_ID:1 ncbi_taxonomy Hantavirus NCBITaxon:1980442 Orthohantavirus NCBITaxon:12506 GC_ID:1 Dobrava virus Dobrava-Belgrade hantavirus Dobrava-Belgrade virus Dobravavirus ncbi_taxonomy NCBITaxon:1980467 Dobrava-Belgrade orthohantavirus NCBITaxon:11604 GC_ID:1 Puumala hantavirus Puumala virus Puumala virus PV Puumalavirus nephropathia epidemica virus ncbi_taxonomy NCBITaxon:1980486 Puumala orthohantavirus NCBITaxon:11608 GC_ID:1 Seoul hantavirus Seoul virus epidemic hemorrhagic fever virus ncbi_taxonomy NCBITaxon:1980490 Seoul orthohantavirus Bacteria eubacteria GC_ID:11 PMID:10425795 PMID:10425796 PMID:10425797 PMID:10490293 PMID:10843050 PMID:10939651 PMID:10939673 PMID:10939677 PMID:11211268 PMID:11321083 PMID:11321113 PMID:11411719 PMID:11540071 PMID:11542017 PMID:11542087 PMID:11760965 PMID:12054223 PMID:2112744 PMID:270744 PMID:32628106 PMID:36748408 PMID:7520741 PMID:8123559 PMID:8186100 PMID:8590690 PMID:9103655 PMID:9336922 eubacteria ncbi_taxonomy Monera Procaryotae Prokaryota Prokaryotae bacteria not Bacteria Haeckel 1894 prokaryote prokaryotes NCBITaxon:2 Bacteria GC_ID:11 PMID:11837318 PMID:16280504 PMID:26654112 PMID:29458499 Actinobacteria ncbi_taxonomy Actinobacteraeota Actinobacteriota actinobacteria NCBITaxon:201174 Actinobacteria <actinobacteria> GC_ID:1 PMID:29367151 ncbi_taxonomy NCBITaxon:2058185 Dictyosteliaceae GC_ID:1 PMID:29367151 ncbi_taxonomy NCBITaxon:2058949 Dictyosteliales GC_ID:1 ncbi_taxonomy Homo/Pan/Gorilla group NCBITaxon:207598 Homininae GC_ID:11 PMID:10984043 ncbi_taxonomy Pseudomonas aeruginosa PA01 Pseudomonas aeruginosa str. PA01 Pseudomonas aeruginosa str. PAO1 Pseudomonas aeruginosa PAO1 Archaea GC_ID:11 PMID:10425795 PMID:10425796 PMID:10425797 PMID:10490293 PMID:10843050 PMID:10939651 PMID:10939673 PMID:10939677 PMID:11211268 PMID:11321083 PMID:11321113 PMID:11411719 PMID:11540071 PMID:11541975 PMID:11542064 PMID:11542149 PMID:11760965 PMID:12054223 PMID:2112744 PMID:25527841 PMID:270744 PMID:32628106 PMID:36748408 PMID:8123559 PMID:8590690 PMID:9103655 PMID:9336922 ncbi_taxonomy Archaebacteria Mendosicutes Metabacteria Monera Procaryotae Prokaryota Prokaryotae archaea prokaryote prokaryotes NCBITaxon:2157 Archaea GC_ID:1 ncbi_taxonomy NCBITaxon:2169561 Ortervirales GC_ID:1 ncbi_taxonomy NCBITaxon:2497569 Negarnaviricota GC_ID:1 ncbi_taxonomy NCBITaxon:2497571 Polyploviricotina GC_ID:1 ncbi_taxonomy NCBITaxon:2497576 Ellioviricetes GC_ID:1 RNA viruses RNA viruses and viroids ncbi_taxonomy NCBITaxon:2559587 Riboviria GC_ID:1 ncbi_taxonomy NCBITaxon:2560074 Mammantavirinae GC_ID:1 ncbi_taxonomy NCBITaxon:2605435 Evosea GC_ID:1 ncbi_taxonomy NCBITaxon:2611352 Discoba GC_ID:1 ncbi_taxonomy NCBITaxon:2684882 Zygnematophycidae GC_ID:1 ncbi_taxonomy NCBITaxon:2697495 Spiralia GC_ID:1 ncbi_taxonomy SAR supergroup NCBITaxon:2698737 Sar GC_ID:1 ncbi_taxonomy Revtraviricetes Eukaryota eucaryotes eukaryotes GC_ID:1 PMID:23020233 PMID:30257078 eucaryotes eukaryotes ncbi_taxonomy Eucarya Eucaryotae Eukarya Eukaryotae euk- eukaryotes NCBITaxon:2759 Eukaryota Euarchontoglires GC_ID:1 PMID:11214319 PMID:12082125 PMID:12878460 PMID:15522813 ncbi_taxonomy NCBITaxon:314146 Euarchontoglires GC_ID:1 PMID:11214319 PMID:12082125 PMID:15522813 Rodents and rabbits ncbi_taxonomy NCBITaxon:314147 Glires GC_ID:1 ncbi_taxonomy Anthropoidea NCBITaxon:314293 Simiiformes GC_ID:1 ape apes ncbi_taxonomy NCBITaxon:314295 Hominoidea GC_ID:1 ncbi_taxonomy NCBITaxon:3176 Zygnematales GC_ID:1 higher plants land plants plants ncbi_taxonomy land plants NCBITaxon:3193 Embryophyta GC_ID:1 teleost fishes ncbi_taxonomy NCBITaxon:32443 Teleostei Tetrapoda tetrapods GC_ID:1 tetrapods ncbi_taxonomy NCBITaxon:32523 Tetrapoda Amniota amniotes GC_ID:1 amniotes ncbi_taxonomy NCBITaxon:32524 Amniota GC_ID:1 Theria ncbi_taxonomy NCBITaxon:32525 Theria <Mammalia> Theria <mammals> GC_ID:1 diapsids ncbi_taxonomy Diapsida NCBITaxon:32561 Sauria GC_ID:1 ncbi_taxonomy NCBITaxon:327045 Orthoretrovirinae GC_ID:1 PMID:11062127 PMID:29367151 PMID:9342353 dictyostelid cellular slime molds ncbi_taxonomy Dictyostelida Dictyostelids Dictyosteliida cellular slime molds NCBITaxon:33083 Dictyostelia GC_ID:1 PMID:16248873 PMID:30257078 Chlorophyta/Embryophyta group chlorophyte/embryophyte group green plants ncbi_taxonomy Chlorobionta Chloroplastida green plants NCBITaxon:33090 Viridiplantae GC_ID:1 ncbi_taxonomy conifers NCBITaxon:3312 Coniferophyta Opisthokonta GC_ID:1 ncbi_taxonomy Fungi/Metazoa group opisthokonts NCBITaxon:33154 Opisthokonta Metazoa metazoans multicellular animals GC_ID:1 metazoans multicellular animals ncbi_taxonomy Animalia animals NCBITaxon:33208 Metazoa Bilateria GC_ID:1 ncbi_taxonomy NCBITaxon:33213 Bilateria GC_ID:1 ncbi_taxonomy NCBITaxon:33317 Protostomia GC_ID:1 deuterostomes ncbi_taxonomy NCBITaxon:33511 Deuterostomia GC_ID:1 alveolates ncbi_taxonomy NCBITaxon:33630 Alveolata GC_ID:1 ncbi_taxonomy Euglenozoans NCBITaxon:33682 Euglenozoa GC_ID:1 ncbi_taxonomy Chlamydospermopsida Gneticae NCBITaxon:3372 Gnetopsida GC_ID:1 PMID:15371245 ncbi_taxonomy NCBITaxon:337677 Cricetidae GC_ID:1 PMID:15019624 PMID:15371245 ncbi_taxonomy NCBITaxon:337687 Muroidea GC_ID:1 ncbi_taxonomy NCBITaxon:3378 Gnetales GC_ID:1 PMID:25249442 angiosperms flowering plants ncbi_taxonomy Angiospermae Magnoliophyta flowering plants NCBITaxon:3398 Magnoliopsida GC_ID:1 ncbi_taxonomy NCBITaxon:34346 Schizosaccharomycetales GC_ID:1 ncbi_taxonomy NCBITaxon:35493 Streptophyta GC_ID:1 ncbi_taxonomy NCBITaxon:376913 Haplorrhini GC_ID:1 glaucocystophytes ncbi_taxonomy Glaucophyceae Glaucophyta algae NCBITaxon:38254 Glaucocystophyceae GC_ID:1 Eurasian field mouse Old World field mouse striped field mouse ncbi_taxonomy Apodemus pratensis NCBITaxon:39030 Apodemus agrarius GC_ID:1 ncbi_taxonomy Microtinae NCBITaxon:39087 Arvicolinae NCBITaxon:109679 GC_ID:1 ncbi_taxonomy NCBITaxon:39107 Murinae GC_ID:1 ncbi_taxonomy NCBITaxon:400053 Sylvaemus group Mammalia mammals GC_ID:1 mammals ncbi_taxonomy mammals NCBITaxon:40674 Mammalia GC_ID:1 ncbi_taxonomy Neopterygi NCBITaxon:41665 Neopterygii GC_ID:1 dinosaur dinosaurs ncbi_taxonomy NCBITaxon:436486 Dinosauria GC_ID:1 ncbi_taxonomy NCBITaxon:436489 Saurischia GC_ID:1 ncbi_taxonomy NCBITaxon:436491 Theropoda GC_ID:1 ncbi_taxonomy NCBITaxon:436492 Coelurosauria NCBITaxon:13014 GC_ID:1 ncbi_taxonomy Clethrionomys NCBITaxon:447134 Myodes NCBITaxon:51090 GC_ID:1 Bank vole bank vole ncbi_taxonomy Clethrionomys glareolus NCBITaxon:447135 Myodes glareolus GC_ID:1 PMID:15689432 PMID:16151185 PMID:17010206 PMID:17051209 PMID:17572334 ncbi_taxonomy NCBITaxon:451864 Dikarya GC_ID:1 ncbi_taxonomy NCBITaxon:451866 Taphrinomycotina GC_ID:1 PMID:11062127 PMID:12684019 ncbi_taxonomy Mycota fungi NCBITaxon:4751 Fungi GC_ID:1 PMID:17572334 ascomycetes sac fungi ncbi_taxonomy ascomycete fungi NCBITaxon:4890 Ascomycota GC_ID:1 ncbi_taxonomy Hemiascomycetes NCBITaxon:4891 Saccharomycetes GC_ID:1 ncbi_taxonomy Endomycetales budding yeasts NCBITaxon:4892 Saccharomycetales NCBITaxon:221665 NCBITaxon:44280 GC_ID:1 ncbi_taxonomy NCBITaxon:4893 Saccharomycetaceae GC_ID:1 fission yeasts ncbi_taxonomy Schizosaccharomycetoideae NCBITaxon:4894 Schizosaccharomycetaceae GC_ID:1 ncbi_taxonomy NCBITaxon:4895 Schizosaccharomyces NCBITaxon:45042 GC_ID:1 fission yeast ncbi_taxonomy Schizosaccharomyces malidevorans NCBITaxon:4896 Schizosaccharomyces pombe NCBITaxon:36915 GC_ID:1 ncbi_taxonomy Pachytichospora NCBITaxon:4930 Saccharomyces NCBITaxon:41870 GC_ID:1 Saccharomyces cerevisiae 'var. diastaticus' baker's yeast brewer's yeast ncbi_taxonomy Candida robusta Mycoderma cerevisiae Saccharomyces capensis Saccharomyces diastaticus Saccharomyces italicus Saccharomyces oviformis Saccharomyces uvarum var. melibiosus NCBITaxon:4932 Saccharomyces cerevisiae GC_ID:1 Yellow-necked field mouse ncbi_taxonomy Sylvaemus flavicollis NCBITaxon:54292 Apodemus flavicollis GC_ID:1 PMID:23020233 PMID:30257078 ncbi_taxonomy NCBITaxon:554915 Amoebozoa GC_ID:1 PMID:29367151 ncbi_taxonomy Hyalostilbum NCBITaxon:5782 Dictyostelium GC_ID:1 vascular plants ncbi_taxonomy vascular plants NCBITaxon:58023 Tracheophyta GC_ID:1 seed plants ncbi_taxonomy seed plants NCBITaxon:58024 Spermatophyta GC_ID:1 ncbi_taxonomy NCBITaxon:6072 Eumetazoa GC_ID:1 cnidarians coelenterates ncbi_taxonomy Coelenterata cnidarians NCBITaxon:6073 Cnidaria GC_ID:1 flatworm flatworms ncbi_taxonomy flatworms NCBITaxon:6157 Platyhelminthes GC_ID:1 nematode nematodes roundworm roundworms ncbi_taxonomy Nemata nematodes NCBITaxon:6231 Nematoda GC_ID:1 ncbi_taxonomy NCBITaxon:693660 unclassified Primate lentivirus group GC_ID:1 ncbi_taxonomy NCBITaxon:716545 saccharomyceta GC_ID:1 chordates ncbi_taxonomy chordates NCBITaxon:7711 Chordata Vertebrata <vertebrates> Vertebrata vertebrates GC_ID:1 Vertebrata vertebrates ncbi_taxonomy vertebrates NCBITaxon:7742 Vertebrata <Metazoa> Vertebrata <vertebrates> GC_ID:11 PMID:15243089 PMID:29205127 Mycobacterium complex ncbi_taxonomy NCBITaxon:77643 Mycobacterium tuberculosis complex GC_ID:1 Gnathostomata jawed vertebrates ncbi_taxonomy NCBITaxon:7776 Gnathostomata <vertebrate> Gnathostomata <vertebrates> GC_ID:1 euphyllophytes ncbi_taxonomy NCBITaxon:78536 Euphyllophyta GC_ID:1 fish fishes ray-finned fishes ncbi_taxonomy Actinopterygi Osteichthyes bony fishes NCBITaxon:7898 Actinopterygii GC_ID:1 ncbi_taxonomy NCBITaxon:8287 Sarcopterygii GC_ID:1 sauropsids ncbi_taxonomy NCBITaxon:8457 Sauropsida GC_ID:1 ncbi_taxonomy NCBITaxon:8492 Archosauria NCBITaxon:1761 GC_ID:11 PMID:11837321 PMID:1736962 PMID:19244447 PMID:30186281 PMID:31157615 ncbi_taxonomy Corynebacterineae Mycobacteriales NCBITaxon:85007 Corynebacteriales GC_ID:1 Mus ncbi_taxonomy NCBITaxon:862507 Mus <subgenus> GC_ID:1 birds ncbi_taxonomy avian birds NCBITaxon:8782 Aves GC_ID:1 Craniata ncbi_taxonomy NCBITaxon:89593 Craniata <chordata> Craniata <chordates> GC_ID:1 eutherian mammals placental mammals placentals ncbi_taxonomy Placentalia placentals NCBITaxon:9347 Eutheria GC_ID:1 primate ncbi_taxonomy Primata primates NCBITaxon:9443 Primates GC_ID:1 ncbi_taxonomy NCBITaxon:9526 Catarrhini GC_ID:1 great apes ncbi_taxonomy Pongidae NCBITaxon:9604 Hominidae GC_ID:1 humans ncbi_taxonomy NCBITaxon:9605 Homo Homo sapiens Homo sapiens human human being man person GC_ID:1 human man ncbi_taxonomy humans NCBITaxon:9606 Homo sapiens Homo sapiens GC_ID:1 rodent ncbi_taxonomy rodents NCBITaxon:9989 Rodentia An individual's total number of brothers and sisters. C102469 Qualitative Concept Number of Siblings C0557094 FDA Number of Siblings Number of Siblings The age of the subject at the time of the vaccination. C103173 Organism Attribute Age at Time of Vaccination C3641107 FDA Age at Time of Vaccination Age at the Time of Vaccination Age at Time of Vaccination A group of people characterized by the practice of a common religion. C103282 Population Group Religious Group C0597369 Religious Group Religious Group A member of the Jewish faith whose ancestors lived in North Africa, the Middle East, Portugal or Spain. C103283 Population Group Sephardic Jew C0574825 A person of Sephardic Jewish descent. SEPHARDIC JEW Sephardi Sephardic Jew Sephardic Jew Individuals who do not necessarily identify with any particular race or others who do not wish to self select into a racial category(ies). C104495 Population Group Other Race C0425379 OTHER RACE Other Race RACEOTH Other Race The age at which permanent cessation of menses occurs. C106497 Clinical Attribute Age at Menopause C1629609 CDISC The age at which permanent cessation of menses occurred. (NCI) Age at Menopause MENOAGE Menopause Age Age at Menopause A person having origins in the original peoples of Asia, but not China, India, Korea, the Philippine Islands or Vietnam. C107601 Population Group Other Asian C0438971 FDA Other Asian Other Asian A person having origins in the original peoples of the Pacific Islands, but not Guam, Hawaii, the Mariana Islands or Samoa. C107602 Population Group Other Pacific Islander C1553351 FDA Other Pacific Islander Other Pacific Islander A person of Mexican or Mexican American culture or origin, regardless of race. C107607 Population Group Mexican or Mexican American C3829110 FDA Mexican or Mexican American Mexican or Mexican American A person of Cuban culture or origin, regardless of race. C107608 Population Group Cuban C1553379 FDA A person of Cuban descent. CUBAN Cuban Cuban A person of Spanish culture or origin, but not Cuban, Mexican, Puerto Rican, South or Central American, regardless of race. C107609 Population Group Other Hispanic or Latino(a) C3828691 FDA Other Hispanic or Latino(a) Other Hispanic or Latino(a) The time elapsed between the day of conception and the day of delivery. C114088 Organism Attribute Conception Age C3827345 NICHD The time elapsed between the day of conception and the day of delivery. Conception Age Conception Age Conceptional Age Conceptual Age Post-Conceptional Age Post-Conceptual Age Conception Age Chronological age reduced by the number of weeks born before 40 weeks of gestation; most appropriately used to describe children up to 3 years of age who were born preterm. C114089 Organism Attribute Corrected Age C3831006 NICHD Chronological age reduced by the number of weeks born before 40 weeks of gestation; most appropriately used to describe children up to 3 years of age who were born preterm. Corrected Age Adjusted Age Corrected Age Corrected Gestational Age Corrected Age Best estimate of the first day of last menstrual period to birth plus time elapsed from day of birth. C114090 Organism Attribute Postmenstrual Age C3828508 NICHD Best estimate of the first day of last menstrual period to birth plus time elapsed from day of birth. Postmenstrual Age Postmenstrual Age Postmenstrual Age Birth weight less than 1500 grams. C114935 Finding Very Low Birth Weight C0282666 GAIA NICHD Birth weight less than 1500 grams. Very Low Birth Weight VLBW Very Low Birth Weight Very Low Birth Weight Birth weight less than 1000 grams. C114936 Finding Extremely Low Birth Weight C0456065 GAIA NICHD Birth weight less than 1000 grams. Extremely Low Birth Weight ELBW Extremely Low Birth Weight Extremely Low Birth Weight Birth weight less than 750 grams. C114937 Finding Ultra Low Birth Weight C3896584 ULBW Ultra Low Birth Weight Ultra Low Birth Weight A person's optimum weight as calculated by a standard methodology. C117976 Quantitative Concept Ideal Body Weight C0421272 CDISC A person's optimum weight as calculated by a standard methodology. IDEALWT Ideal Body Weight Ideal Body Weight The money received by retired workers who have paid in to the Social Security system during their working years. C120451 Group Attribute Social Security Retirement Benefit C0037435 Social Security Social Security Retirement Benefit Social Security Retirement Benefit A fixed sum paid regularly to a person by their former employer. C120452 Group Attribute Pension C0030854 Pension Pension The pressure within the left ventricle following the completion of diastolic filling, just prior to systole. C120919 Quantitative Concept Left Ventricular End Diastolic Pressure C0456190 CDISC The pressure within the left ventricle of the heart at the end of the period when the chambers of the heart refill with blood and just before the contraction begins. LVEDP Left Ventricular End Diastolic Pressure Left Ventricular End Diastolic Pressure The pressure in the left ventricle at any point prior to the ejection of its contents into the aorta (systole). C120920 Quantitative Concept Left Ventricular Systolic Pressure C0456189 CDISC The pressure within the left ventricle of the heart during the contraction of the left ventricle of the heart. LVSYSBP Left Ventricular Systolic Pressure Left Ventricular Systolic Pressure An approximate calculation of the gestational age of the fetus. C122188 Organism Attribute Estimated Gestational Age C0262472 CDISC An approximate calculation of the gestational age of the fetus. EGESTAGE Estimated Gestational Age Estimated Gestational Age The number of education years that a subject has competed. C122393 Qualitative Concept Number of Years of Education C4054327 CDISC The number of years of education that a person has completed. EDUYRNUM Number of Years of Education Number of Years of Education The age at which the first episode occurred. C124438 Organism Attribute Age at First Episode C4085940 CDISC The age at which the first episode occurred. AGEEPSD1 Age At First Episode Age at First Episode Age at First Episode The age at which the first hospitalization event occurred. C124439 Organism Attribute Age at First Hospitalization C4085941 CDISC The age at which the first hospitalization event occurred. AGEHOSP1 Age At First Hospitalization Age at First Hospitalization Age at First Hospitalization The age at which the first treatment event occurred. C124440 Organism Attribute Age at First Treatment C4085942 CDISC The age at which the first treatment for the condition occurred. AGETRT1 Age At First Treatment Age at First Treatment Age at First Treatment The maternal body weight adjusted for the weight of the gravid uterus. This is derived by subtracting the gravid uterus weight from the total maternal body weight. C124477 Conceptual Entity Gravid Uterus Adjusted Maternal Body Weight C4086368 CDISC The maternal body weight adjusted for the weight of the gravid uterus. This is derived by subtracting the gravid uterus weight from the total maternal body weight. BWADJGU Gravid Uterus Adjusted Body Weight Gravid Uterus Adjusted Maternal Body Weight Gravid Uterus Adjusted Maternal Body Weight An estimate or direct measurement of the heaviness of a fetus. C124479 Conceptual Entity Fetal Body Weight C0751992 CDISC The weight of a fetus. BWFETAL Fetal Body Weight Fetal Body Weight A measurement of the average weight of all live fetuses. C124627 Conceptual Entity Average Live Fetal Weight C4086012 CDISC A measurement of the average weight of all live fetuses. Average Live Fetal Weight FWAVGL Average Live Fetal Weight A measurement of the average weight of all live female fetuses. C124628 Conceptual Entity Average Female Live Fetal Weight C4086011 CDISC A measurement of the average weight of all live female fetuses. Average Female Live Fetal Weight FWAVGLF Average Female Live Fetal Weight A measurement of the average weight of all live male fetuses. C124629 Conceptual Entity Average Male Live Fetal Weight C4086996 CDISC A measurement of the average weight of all live male fetuses. Average Male Live Fetal Weight FWAVGLM Average Male Live Fetal Weight A measurement of the total weight of all live fetuses. C124630 Conceptual Entity Total Live Fetal Weight C4086909 CDISC A measurement of the total weight of all live fetuses. FWTOTL Total Live Fetal Weight Total Live Fetal Weight The age at which a minor assumes legal control over their person, actions, and decisions. C126362 Organism Attribute Age of Majority CL504920 Age of Majority Age of Majority Denotes a person whose ancestry is in any of the countries of the central part of the African continent: Burundi, the Central African Republic, Chad, the Democratic Republic of the Congo, and Rwanda. C126528 Population Group Central African C0238602 Central African Central African Denotes a person whose ancestry is in any of the countries of the northern part of the African continent: Algeria, Egypt, Libya, Morocco, Sudan, Tunisia, and Western Sahara. C126529 Population Group North African C0238604 North African North African Denotes a person whose ancestry is in the country of South Africa. C126530 Population Group South African C0238605 South African South African Denotes a person whose ancestry is in any of the countries of the Americas or the Caribbean where Spanish or Portuguese is spoken. C126531 Population Group Latin American C1553378 A person of Latin American descent. LATIN AMERICAN Latin American Latin American Denotes a person whose ancestry is in any of the countries of South America. C126532 Population Group South American C0425359 A person of South American descent. SOUTH AMERICAN South American South American Denotes a person whose ancestry is in any of the Asian countries south of China, east of India, west of New Guinea and north of Australia. C126533 Population Group Southeast Asian C0238697 Southeast Asian Southeast Asian Denotes a person whose ancestry is in any of the Asian countries between the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north. C126534 Population Group Central Asian C0238696 Central Asian Central Asian Denotes a person whose ancestry is in the country or continent of Australia. C126535 Population Group Australian C0238711 Australian Australian Denotes a person whose ancestry is in the country of New Zealand. C126536 Population Group New Zealander CL505027 New Zealander New Zealander Denotes a person whose ancestry is in the country of Iceland. C126537 Population Group Icelander C0337808 Icelander Icelandic Icelander Denotes a person whose ancestry is in the countries of Scandinavia: Denmark, Norway and Sweden. Finland and Iceland are generally included as part of the Scandinavian region. C126538 Population Group Scandinavian C0240951 Scandinavian Scandinavian A collection of ethnic geographical categories including African American, North American, Latin American, Caribbean, and South American. C128457 Population Group American Ethnicity C0596070 American American Ethnicity Americas American Ethnicity A collection of ethnic geographical categories including Australian and New Zealander. C128458 Population Group Australian/New Zealand Ethnicity CL509688 Australian/New Zealand Australian/New Zealand Ethnicity Australian/New Zealand Ethnicity A collection of ethnic geographical categories including Middle Eastern and Hispanic. C128459 Population Group Intercontinental Ethnicity CL509475 Intercontinental Intercontinental Ethnicity Intercontinental Ethnicity Denotes a person of African ancestral origins whose family settled in America. C128937 Population Group African American CL415133 A person having origins in the original peoples of sub-Saharan Africa and the United States. AFRICAN AMERICAN African American Afro American African American C128938 Population Group Black C0005680 CDISC A person having origins in the original peoples of sub-Saharan Africa or the Caribbean. BLACK Black Black Populations Black Denotes a person of African ancestral origins whose family settled in Central America. C128991 Population Group Black Central American CL512097 A person having origins in the original peoples of sub-Saharan Africa and Central America. BLACK CENTRAL AMERICAN Black Central American Black Central American Denotes a person of African ancestral origins whose family settled in South America. C128992 Population Group Black South American CL512098 A person having origins in the original peoples of sub-Saharan Africa and South America. BLACK SOUTH AMERICAN Black South American Black South American A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and Central America. C128993 Population Group White Central American CL512246 A person having origins in the original peoples of Europe, the Middle East, or North Africa, and Central America. WHITE CENTRAL AMERICAN White Central American White Central American A person having origins in any of the original peoples of Europe, the Middle East, or North Africa and South America. C128994 Population Group White South American CL512247 A person having origins in the original peoples of Europe, the Middle East, or North Africa, and South America. WHITE SOUTH AMERICAN White South American White South American The maximum pressure exerted into the systemic arterial circulation during the contraction of the right ventricle of the heart. C129953 Quantitative Concept Right Ventricular Systolic Pressure C0456181 RVSP Right Ventricular Systolic Pressure Right Ventricular Systolic Pressure Blood pressure in the pulmonary artery. C129958 Clinical Attribute Pulmonary Artery Pressure C0428642 PAP Pulmonary Artery Pressure Pulmonary Artery Pressure Blood pressure within the left atrium. It is commonly measured indirectly by a pulmonary capillary wedge pressure. C129959 Clinical Attribute Left Atrial Pressure C0456170 LAP Left Atrial Pressure PLA Left Atrial Pressure The estimated arithmetic average of atrial pressure. C130056 Quantitative Concept Estimated Mean Atrial Pressure CL514049 Estimated Mean Atrial Pressure Estimated Mean Atrial Pressure An approximate determination of the weight of a body. C132482 Conceptual Entity Estimated Body Weight CL521346 CDISC An approximate determination of the weight of the subject. EWEIGHT Estimated Body Weight Estimated Weight Estimated Body Weight The age at which death occurred. C135383 Organism Attribute Age at Death C1546180 CDISC The age at which death occurred. (NCI) AGEDTH Age at Death Age at Death The result of a body mass index measurement. C138901 Finding Body Mass Index Finding BMI Body Mass Index Body Mass Index Finding Body Mass Index Finding Indicates a body mass index measurement less than 19. C138932 Finding Body Mass Index Less Than 19 BMI < 19 Body Mass Index Less Than 19 Body Mass Index Less Than 19 Indicates a body mass index measurement greater than or equal to 19 but below 21. C138933 Finding Body Mass Index 19 to Less Than 21 BMI 19 to < 21 Body Mass Index 19 to Less Than 21 Body Mass Index 19 to Less Than 21 Indicates a body mass index measurement greater than or equal to 21 but below 23. C138934 Finding Body Mass Index 21 to Less Than 23 BMI 21 to < 23 Body Mass Index 21 to Less Than 23 Body Mass Index 21 to Less Than 23 Indicates a body mass index measurement greater than or equal to 23. C138935 Finding Body Mass Index Greater Than or Equal to 23 BMI > 23 Body Mass Index Greater Than or Equal to 23 Body Mass Index Greater Than or Equal to 23 An indication that an individual's age is or was greater than 85 years. C138936 Organism Attribute Age Greater than 85 Years Age > 85 Age Greater than 85 Years Age Greater than 85 Years An indication that an individual's age is or was between 80 and 85 years. C138937 Organism Attribute Age Between 80 and 85 Years Age 80-85 Age Between 80 and 85 Years Age Between 80 and 85 Years An indication that an individual's age is or less than 80 years. C138938 Organism Attribute Age Less than 80 Years Age < 80 Age Less than 80 Years Age Less than 80 Years A quantitative estimate of the pressure in a given cardiovascular structure during ventricular systole. C139031 Quantitative Concept Estimated Systolic Blood Pressure CDISC A quantitative estimate of the pressure in a given cardiovascular structure during ventricular systole. Estimated Systolic Blood Pressure SYSPRS_E Systolic Pressure, Estimated Estimated Systolic Blood Pressure The age at which the full-time use of an entity occurred. C139175 Organism Attribute Age at Full-Time Use CDISC The age at which the full-time use of a pre-specified object first occurred. AGEFTUSE Age at Full-Time Use Age at Full-Time Use Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, and who was either born in the United States or who was naturalized as a citizen of the United States. C16310 Population Group Asian American C0003988 A person having origins in the original peoples of Asia and the United States. Asian_American ASIAN AMERICAN Asian American Asian Americans Asian American A person having origins in any of the Black racial groups of Africa. Terms such as "Haitian" or "Negro" can be used in addition to "Black or African American". (OMB) C16352 Population Group Black or African American C0085756 CDISC FDA A person having origins in any of the black racial groups of Africa. Terms such as "Haitian" or "Negro" can be used in addition to "Black or African American." (FDA) African_American BLACK OR AFRICAN AMERICAN Black or African American Black or African American A general indicator of the body fat an individual is carrying based upon the ratio of weight to height. C16358 Clinical Attribute Body Mass Index C1305855 CDISC NCPDP A general indicator of the body fat an individual is carrying based upon the ratio of weight to height. (NCI) A measure that relates body weight to height. BMI is sometimes used to measure total body fat and whether a person is a healthy weight. Excess body fat is linked to an increased risk of some diseases including heart disease and some cancers. Body_Mass_Index BMI Body Mass Index Quetelet Index body mass index Body Mass Index A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. C16564 Population Group Ethnic Group C0015031 CDISC CDISC-GLOSS NICHD Denotes social groups with a shared history, sense of identity, geography, and cultural roots. Ethnic_Group Ethnic Group ETHNIC Ethnic Group Ethnic Origin Ethnic Origins Ethnicity ethnicity Ethnic Group A group of individuals united by a common factor (e.g., geographic location, ethnicity, disease, age, gender) C17005 Population Group Population Group C1257890 CDISC-GLOSS Any finite or infinite collection of subjects from which a sample is drawn for a study to obtain estimates for values that would be obtained if the entire population were sampled. [AMA style Manual] Population_Group Group Population Population Group Subpopulation population Population Group A subjective and comparative term describing a lack of sufficient wealth (usually understood as capital, money, material goods, or resources especially natural resources) to live what is understood in a society as a "normal" life: for instance, to be capable of raising a healthy family, and especially educating children and participating in society. A person living in this condition of poverty is said to be poor. The meaning of "sufficient" varies widely across the different political and economic areas of the world. C17009 Group Attribute Poverty C0032854 Poverty Low Income Poor Poverty Poverty An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. C17049 Population Group Race C0034510 FDA NICHD Race Race RACE Race Racial Group Race A person of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. The term, "Spanish origin," can be used in addition to "Hispanic or Latino." (OMB) C17459 Population Group Hispanic or Latino C0086409 CDISC FDA A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. (NCI) Hispanic HISPANIC OR LATINO Hispanic Hispanic Populations Hispanic or Latino Hispanics or Latinos Latino Population Spanish Origin Hispanic or Latino Characteristics of a person such as education and occupation, used to describe the person's position in stratification systems, access to services, etc. C17468 Qualitative Concept Socioeconomic Factors C0086996 Socioeconomic_Factors Socioeconomic Factors Socioeconomic Status Socioeconomic Factors Ashkenazi Jews, also called Ashkenazim, are Jews who are descendants of Jews from Germany, Poland, Austria and Eastern Europe. C17950 Population Group Ashkenazi Jew C0337704 A person of Ashkenazi Jewish descent. One of two major ancestral groups of Jewish individuals, comprised of those whose ancestors lived in Eastern Europe (Germany, Poland, Russia). The other group is designated Sephardic Jews and includes those whose ancestors lived in North Africa, the Middle East, and Spain. Most Jews living in the United States are Ashkenazi Jews. Ashkenazi_Jew ASHKENAZI JEW Ashkenazi Jew Ashkenazim Ashkenazi Jew Denotes a person having origins in any indigenous people of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. The concept refers to population subgroups such as Eskimos, Aleuts, Inupiat, Yupik, Alutiiq, Egegik,and Pribilovian, Alaskan Athabascan, Tlingit, and Haida. The concept refers also to individuals who classify themselves as such. C18237 Population Group Alaska Native C0682125 The native people of Alaska. Alaska_Native ALASKA NATIVE Alaska Indian Alaska Indians Alaska Native Alaska Natives Alaska Native A demographic parameter indicating the average amount of earnings made by a family in a particular population or/and during a particular period of time. C19308 Quantitative Concept Average Household Income C1510993 Average_Household_Income Average Household Income Average Household Income a demographics parameter useful for identifying socio-economic groups. C19309 Quantitative Concept Number of Children in Household C1518468 Number_of_Children_in_Household Number of Children in Household Number of Children in Household The distinguishing qualities or prominent aspects of an individual person. C19332 Organism Attribute Personal Attribute C0681884 Personal_Attribute Personal Personal Attribute Subject Characteristics Personal Attribute Age of first menstruation. A risk factor for breast cancer C19666 Clinical Attribute Age at Menarche C1314691 CDISC The age at which the first menstruation event occurred. (NCI) Age_at_Menarche Age at Menarche MENARAGE Menarche Age Age at Menarche The age at which a woman gave birth to her first live child. C19667 Clinical Attribute Age at First Live Birth C1510831 Age_at_First_Live_Birth Age at First Full-Term Pregnancy Age at First Live Birth Age at First Live Birth An indication of a person's current tobacco and nicotine consumption as well as some indication of smoking history. C19796 Organism Attribute Smoking Status C1519386 Smoking_Status Current Tobacco and Nicotine Consumption Status Smoking Status Smoking Status How long something has existed; elapsed time since birth. C25150 Organism Attribute Age C0001779 CDISC FDA NICHD How long something has existed; elapsed time since birth. (NCI) The time elapsed since birth. Age Chronological Age AGE Age Aged Chronological Age Postnatal Age age Age The maximum pressure exerted into the systemic arterial circulation during the contraction of the left ventricle of the heart. C25298 Quantitative Concept Systolic Blood Pressure C0871470 CDISC NCPDP The maximum blood pressure in the systemic arterial circulation during the cardiac cycle. Systolic_Pressure SYSBP Systolic Blood Pressure Systolic Pressure Systolic Blood Pressure The minimum pressure exerted into the systemic arterial circulation during cardiac ventricular relaxation and filling. C25299 Clinical Attribute Diastolic Blood Pressure C0428883 CDISC NCPDP The minimum blood pressure in the systemic arterial circulation during the cardiac cycle. Diastolic_Pressure DIABP Diastolic Blood Pressure Diastolic Pressure Diastolic Blood Pressure The vertical measurement or distance from the base to the top of an object; the vertical dimension of extension. C25347 Quantitative Concept Height C0489786 CDISC FDA NCPDP The vertical measurement or distance from the base to the top of an object; the vertical dimension of extension. (NCI) Vertical measurement value. Height HEIGHT Height Height A system, commonly called the INR, established by the World Health Organization (WHO) and the International Committee on Thrombosis and Hemostasis for reporting the results of blood coagulation (clotting) tests. All results are standardized using the international sensitivity index (ISI) for the particular thromboplastin reagent and instrument combination utilized to perform the test; the ratio of a patient's clotting time to the lab's mean reference value is normalized against the ISI. (from medterms.com and medicine.ucsf.edu) C25352 Quantitative Concept International Normalized Ratio CL448971 International_Normalized_Ratio INR International Normalized Ratio International Normalized Ratio A birth weight that is less than 2500 grams. C34724 Finding Low Birth Weight C0024032 GAIA NICHD Birth weight less than 2500 grams. Low_Birth_Weight Low Birth Weight Low Birth Weight Low Birth Weight The length of a person's life, stated in months since birth. C37907 Organism Attribute Age-Months C1510828 NCPDP Age-Months Age, in Months Age-Months Age-Months The length of a person's life, stated in years since birth. C37908 Organism Attribute Age-Years C1510829 NCPDP Age-Years Age, in Years Age-Years Age-Years A gain or recurrent benefit during a period of time, usually measured in money that derives from capital or labor. C41150 Group Attribute Income C0021162 Income Income is one of the major demographic parameters used in population-based biomedical research. Income Income A person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. (OMB) C41219 Population Group Native Hawaiian or Other Pacific Islander C1513907 CDISC FDA Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuu. (FDA) Native_Hawaiian_or_Other_Pacific_Islander NATIVE HAWAIIAN OR OTHER PACIFIC ISLANDER Native Hawaiian or Other Pacific Islander Native Hawaiian or Other Pacific Islander A person not of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. C41222 Population Group Not Hispanic or Latino C1518424 CDISC FDA A person not of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification. (NCI) Not_Hispanic_or_Latino NOT HISPANIC OR LATINO Non-Hispanic Non-Hispanic or Latino Not Hispanic or Latino Not Hispanic/Spanish origin Not Hispanic or Latino Denotes a person of African ancestral origins whose family settled in the Caribbean region. C41226 Population Group African Caribbean C0422771 A person having origins in the original peoples of sub-Saharan Africa and the Caribbean. African_Caribbean AFRICAN CARIBBEAN African Caribbean African Caribbean A person having origins in any of the original peoples of North and South America (including Central America) and who maintains tribal affiliation or community attachment. (OMB) C41259 Population Group American Indian or Alaska Native C0282204 CDISC FDA A person having origins in any of the original peoples of North and South America (including Central America), and who maintains tribal affiliation or community attachment. (FDA) American_Indian_or_Alaska_Native AMERICAN INDIAN OR ALASKA NATIVE American Indian or Alaska Native First Nations Native American Native Americans American Indian or Alaska Native A person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. (OMB) C41260 Population Group Asian C0078988 CDISC FDA A person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent including, for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. (FDA) Asian ASIAN Asian Asians Asian A person having origins in any of the original peoples of Europe, the Middle East, or North Africa. (OMB) C41261 Population Group White C0043157 CDISC FDA Denotes a person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White. (FDA) White Caucasian Caucasians Caucasoid Occidental WHITE White Whites White A person having origins in the original peoples of the Indian sub-continent. C41262 Population Group Asian Indian C1524069 CDISC FDA A person having origins in any of the original peoples of the Indian subcontinent. Asian_Indian The concept is close to the term South Asian but several major South Asian populations such as Pakistani and Bangladeshi may not identify with it. ASIAN INDIAN Asian Indian Asian Indians Indian Asian Indian Denotes a person whose ancestry is in the countries of the Indian sub-continent, including India, Pakistan, Bangladesh, and Sri Lanka. C41263 Population Group South Asian C1519427 South_Asian South Asian South Asians South Asian Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excludes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity. C42331 Population Group African C0027567 A person having origins in any of the original peoples of sub-Saharan Africa. African AFRICAN African African C42568 Classification Unit by Category C1710551 Header_Concept Unit_by_Category Unit by Category Unit by Category Aleutian - a person having origins from the Aleut indigenous group of Alaska and their descendants and who maintains tribal affiliation, or community or cultural attachment. C43389 Population Group Aleutian C1553304 Aleutian Aleutian Aleutian The native people inhabiting the Arctic of northern Canada, Greenland, Alaska, or eastern Siberia. The two main groups referred to as Eskimo are the Yupik and Inuit. A third group, the Aleut, is related. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. C43390 Population Group Eskimo C0014845 Eskimo Eskimo Inuit Eskimo A person having origins in any of the original peoples of China. C43391 Population Group Chinese C0152035 FDA A person having origins in any of the original peoples of China. Chinese CHINESE Chinese Chinese A person having origins in any of the original peoples of Japan.. C43392 Population Group Japanese C1556094 FDA A person having origins in any of the original peoples of Japan. Japanese JAPANESE Japanese Japanese A person having origins in any of the original peoples of the Philippine Islands. C43393 Population Group Filipino C1556093 FDA A person having origins in any of the original peoples of the Philippines. Filipino FILIPINO Filipino Filipino A person having origins in any of the original peoples of Hawaii. C43394 Population Group Native Hawaiian C0337920 FDA Hawaiian Hawaiian Native Hawaiian Native Hawaiian A person having origins in any of the original peoples of Korea. C43395 Population Group Korean C1556095 A person having origins in any of the original peoples of North and South Korea. Korean KOREAN Korean Korean A person having origins in any of the original peoples of Viet Nam. C43396 Population Group Vietnamese C1561452 FDA A person having origins in any of the original peoples of Viet Nam. Vietnamese VIETNAMESE Vietnamese Vietnamese Denotes the inhabitants of Laos, a person from there, or their descendants elsewhere. C43397 Population Group Laotian C1553325 A person having origins in any of the original peoples of Laos. Laotian LAOTIAN Laotian Laotian Denotes a person having origins in any of the original Hmong people originating in China around the Yellow River or Hoang Ho. C43398 Population Group Hmong C1553324 The native people originating in China around the Yellow River or Hoang Ho. Hmong Early in the 19th century, the Hmong migrated to French Indochina, which comprised Vietnam, Cambodia and Laos. In 1947, Hmong officially became citizens of Loas. Later a number of Hmong emigrated to Thailand and the United States. HMONG Hmong Hmong Denotes the inhabitants of Cambodia (formerly Kampuchea), a person from there, or their descendants elsewhere. C43399 Population Group Cambodian C1553323 A person having origins in any of the original peoples of Cambodia (formerly Kampuchea). Kampuchean CAMBODIAN Cambodian Kampuchean Cambodian Denotes the inhabitants of Thailand, a person from there, or their descendants elsewhere. C43400 Population Group Thai C0337910 A person having origins in any of the original peoples of Thailand. Thai THAI Thai Thai Denotes a person from any of the islands in the western pacific encompassing the area from the Philippines in the west, Indonesia to the south west, Papua New Guinea and Melanesia to the south, and Polynesia to the south-east and east. C43402 Population Group Micronesian C1556099 A person having origins in any of the original peoples of Micronesia. Micronesian MICRONESIAN Micronesian Micronesian Denotes any of the indigenous Chamorro people of Guam and the Mariana Islands or persons of that ancestry. C43403 Population Group Chamorran C1553343 Chamorran Chamorran Chamorro Chamorran Denotes the inhabitants of Guam, a person from there, or their descendants elsewhere. C43404 Population Group Guamanian C0920541 Guamanian Guamanian Guamanian Denotes a person from any of the over 1,000 islands in the central and southern Pacific Ocean bounded by a triangle with its three corners at Hawaii, New Zealand, and Easter Island or a person of that ancestry. C43405 Population Group Polynesian C0240790 A person having origins in any of the original peoples of Polynesia. Polynesian POLYNESIAN Polynesian Polynesian Denotes the inhabitants of Tahiti, a person from there, or their descendants elsewhere. C43406 Population Group Tahitian C0241329 Tahitian Tahitian Tahitian A person having origins in any of the original peoples of Samoa. C43407 Population Group Samoan C1556103 FDA Samoan Samoan Samoan Denotes the inhabitants of Tonga, a person from there, or their descendants elsewhere. C43408 Population Group Tongan C0337933 Tongan Tongan Tongan Denotes a person from any of the islands in the region extending from the west Pacific to the Arafura Sea, north and north-east of Australia. or of that ancestry. C43409 Population Group Melanesian C0337924 A person having origins in any of the original peoples of Melanesia. Melanesian MELANESIAN Melanesian Melanesian Denotes the inhabitants of Fiji, a person from there, or their descendants elsewhere. C43410 Population Group Fiji Islander C1556097 Fiji_Islander Fiji Islander Fijian Fiji Islander Denotes the inhabitants of Papua New Guinea, a person from there, or their descendants elsewhere. C43411 Population Group Papua New Guinean C1553350 New_Guinean New Guinean Papua New Guinean Papua New Guinean Primarily refers to a person having origins in the original peoples of the Indian sub-continent, a subset of which formed Pakistan. The term also refers to a person from Pakistan, whether or not ancestors were from India. C43427 Population Group Pakistani C0240620 A person having origins in any of the original peoples of Pakistan. Pakistani PAKISTANI Pakistani Pakistani C43650 Population Group Alaska Indian CL333681 Alaska_Indian Alaska Indian Alaska Indian Denotes the inhabitants of Bangladesh, a person from there, or their descendants elsewhere. C43671 Population Group Bangladeshi C1556107 A person having origins in any of the original peoples of Bangladesh. Bangladeshi BANGLADESHI Bangladeshi Bangladeshi Denotes the inhabitants of Sri Lanka, a person from there, or their descendants elsewhere. C43672 Population Group Sri Lankan C1553327 A person having origins in any of the original peoples of Sri Lanka. Sri_Lankan SRI LANKAN Sri Lankan Sri Lankan Denotes the inhabitants of Bhutan, a person from there, or their descendants elsewhere. C43673 Population Group Bhutanese C0337894 CDISC A person having origins in any of the original peoples of Bhutan. Bhutanese BHUTANESE Bhutanese Bhutanese Denotes the inhabitants of Myanmar (formerly Burma), a person from there, or their descendants elsewhere. C43674 Population Group Burmese C1553322 A person having origins in any of the original peoples of Myanmar (formerly Burma). Burmese BURMESE Burmese Burmese Denotes the inhabitants of Taiwan, a person from there, or their descendants elsewhere. C43675 Population Group Taiwanese C1556096 A person having origins in any of the original peoples of Taiwan. Taiwanese TAIWANESE Taiwanese Taiwanese Denotes the inhabitants of Indonesia, a person from there, or their descendants elsewhere. C43715 Population Group Indonesian C0337900 A person having origins in any of the original peoples of Indonesia. Indonesian INDONESIAN Indonesian Indonesian Denotes the inhabitants of Malaysia, a person from there, or their descendants elsewhere. C43716 Population Group Malaysian C0240293 A person having origins in any of the original peoples of Malaysia. Malaysian MALAYSIAN Malaysian Malaysian Denotes the inhabitants of the japanese island of Okinawa, a person from there, or their descendants elsewhere. C43717 Population Group Okinawan C1553326 A person having origins in any of the original peoples of Okinawa. Okinawan OKINAWAN Okinawan Okinawan Denotes the inhabitants of Iwo Jima, a person from there, or their descendants elsewhere. C43718 Population Group Iwo Jiman C1553328 A person having origins in any of the original peoples of Iwo Jima. Iwo_Jiman IWO JIMAN Iwo Jiman Iwo Jiman Denotes the inhabitants of the Maldives, a person from there, or their descendants elsewhere. C43719 Population Group Maldivian C1553329 A person having origins in any of the original peoples of the Maldives. Maldivian MALDIVIAN Maldivian Maldivian Denotes the inhabitants of Nepal, a person from there, or their descendants elsewhere. C43720 Population Group Nepalese C1553330 A person having origins in any of the original peoples of Nepal. Nepalese NEPALESE Nepalese Nepalese Denotes the inhabitants of Singapore, a person from there, or their descendants elsewhere. C43721 Population Group Singaporean C1553331 A person having origins in any of the original peoples of Singapore. Singaporean SINGAPOREAN Singaporean Singaporean Denotes the inhabitants of Madagascar, a person from there, or their descendants elsewhere. C43722 Population Group Malagasy C1553332 A person having origins in any of the original peoples of Madagascar. Madagascar_Race MALAGASY Madagascar Malagasy Malagasy Denotes the inhabitants of Barbados, a person from there, or their descendants elsewhere. C43823 Population Group Barbadian C1553337 A person having origins in any of the original peoples of Barbados. Barbadian BARBADIAN Barbadian Barbadian Denotes the inhabitants of Dominica, a person from there, or their descendants elsewhere. C43824 Population Group Dominica Islander C1553338 A person having origins in any of the original peoples of Dominica. Dominican DOMINICA ISLANDER Dominica Islander Dominican Dominica Islander Denotes the inhabitants of Haiti, a person from there, or their descendants elsewhere. C43825 Population Group Haitian C0239806 A person having origins in any of the original peoples of Haiti. Haitian HAITIAN Haitian Haitian Denotes the inhabitants of Jamaica, a person from there, or their descendants elsewhere. C43826 Population Group Jamaican C0240072 A person having origins in any of the original peoples of Jamaica. Jamaican JAMAICAN Jamaican Jamaican Denotes the inhabitants of Tobago, a person from there, or their descendants elsewhere. C43827 Population Group Tobagoan C1553339 A person having origins in any of the original peoples of Tobago. Tobagoan TOBAGOAN Tobagoan Tobagoan Denotes the inhabitants of Trinidad, a person from there, or their descendants elsewhere. C43828 Population Group Trinidadian C1553340 A person having origins in any of the original peoples of Trinidad. Trinidadian TRINIDADIAN Trinidadian Trinidadian Denotes the inhabitants of the West Indies, a person from there, or their descendants elsewhere. C43829 Population Group West Indian C0425373 A person having origins in any of the original peoples of the West Indies. West_Indian WEST INDIAN West Indian West Indian Denotes the inhabitants of Botswana, a person from there, or their descendants elsewhere. C43830 Population Group Botswanan C1553333 A person having origins in any of the original peoples of Botswana. Botswanan BOTSWANAN Botswanan Motswana Botswanan Denotes the inhabitants of Ethiopia, a person from there, or their descendants elsewhere. C43831 Population Group Ethiopian C0239304 A person having origins in any of the original peoples of Ethiopia. Ethiopian ETHIOPIAN Ethiopian Ethiopian Denotes the inhabitants of Liberia, a person from there, or their descendants elsewhere. C43832 Population Group Liberian C1556088 A person having origins in any of the original peoples of Liberia. Liberian LIBERIAN Liberian Liberian Denotes the inhabitants of Namibia, a person from there, or their descendants elsewhere. C43833 Population Group Namibian C1553334 A person having origins in any of the original peoples of Namibia. Namibian NAMIBIAN Namibian Namibian Denotes the inhabitants of Nigeria, a person from there, or their descendants elsewhere. C43834 Population Group Nigerian C1556089 A person having origins in any of the original peoples of Nigeria. Nigerian NIGERIAN Nigerian Nigerian Denotes the inhabitants of the Democratic Republic of the Congo (formerly Zaire), a person from there, or their descendants elsewhere. C43835 Population Group Zairean C1553335 A person having origins in any of the original peoples of Zaire. Zairean ZAIREAN Zairean Zairean Denotes the inhabitants of Tokelau, a person from there, or their descendants elsewhere. C43836 Population Group Tokelauan C0438967 Tokelauan Tokelauan Tokelauan A person having origins in any of the original peoples of Guam or the Mariana Islands. C43837 Population Group Guamanian or Chamorro C1553342 FDA Guamanian_or_Chamorro Guamanian or Chamorro Guamanian or Chamorro Denotes the inhabitants of the Northern Mariana Islands, a person from there, or their descendants elsewhere. C43838 Population Group Mariana Islander C1553344 Mariana_Islander Mariana Islander Mariana Islander Denotes the inhabitants of the Marshall Islands, a person from there, or their descendants elsewhere. C43839 Population Group Marshallese C1556098 Marshallese Marshallese Marshallese Denotes the inhabitants of Palau, a person from there, or their descendants elsewhere. C43840 Population Group Palauan C0337928 Palauan Palauan Palauan Denotes the inhabitants of the Caroline Islands, a person from there, or their descendants elsewhere. C43841 Population Group Carolinian C1553345 Carolinian Carolinian Carolinian Denotes the inhabitants of the island of Kosrae, a person from there, or their descendants elsewhere. C43842 Population Group Kosraean C1553346 Kosraean Kosraean Kosraean Denotes the inhabitants of the island of Pohnpei, a person from there, or their descendants elsewhere. C43843 Population Group Pohnpeian C1553347 Pohnpeian Pohnpeian Pohnpeian Denotes the inhabitants of the Saipan Islands, a person from there, or their descendants elsewhere. C43844 Population Group Saipanese C1556102 Saipanese Saipanese Saipanese Denotes the inhabitants of Kiribati, a person from there, or their descendants elsewhere. C43845 Population Group Kiribati C1553348 Kiribati_Race Kiribati Kiribati Denotes the inhabitants of the island of Chuuk, a person from there, or their descendants elsewhere. C43846 Population Group Chuukese C1553349 Chuukese Chuukese Chuukese Denotes the inhabitants of the island of Yap, a person from there, or their descendants elsewhere. C43847 Population Group Yapese C1556105 Yapese Yapese Yapese Denotes the inhabitants of the Solomon Islands, a person from there, or their descendants elsewhere. C43849 Population Group Solomon Islander C0337932 Solomon_Islander Solomon Islander Solomon Islander Denotes the inhabitants of the islands of Vanuatu, a person from there, or their descendants elsewhere. C43850 Population Group New Hebrides C1571857 New_Hebrides New Hebrides New Hebrides Denotes the inhabitants of any of the countries of Europe, a person from there, or their descendants elsewhere. C43851 Population Group European C1535514 A person having origins in any of the original peoples of Europe. European EUROPEAN European European Denotes the inhabitants of Armenia, a person from there, or their descendants elsewhere. C43852 Population Group Armenian C0337794 Armenian Armenian Armenian Denotes the inhabitants of England, a person from there, or their descendants elsewhere. C43853 Population Group English C1556083 English English English Denotes the inhabitants of France, a person from there, or their descendants elsewhere. C43854 Population Group French C1556084 French French French Denotes the inhabitants of Germany, a person from there, or their descendants elsewhere. C43855 Population Group German C1556085 German German German Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere. C43856 Population Group Irish C0087186 Irish Irish Irish Denotes the inhabitants of Italy, a person from there, or their descendants elsewhere. C43857 Population Group Italian C0337810 Italian Italian Italian Denotes the inhabitants of Poland, a person from there, or their descendants elsewhere. C43858 Population Group Polish C0220896 Polish Polish Polish Denotes the inhabitants of Scotland, a person from there, or their descendants elsewhere. C43859 Population Group Scottish C0240966 Scottish Scottish Scottish Denotes the inhabitants of Russia, a person from there, or their descendants elsewhere. C43860 Population Group Russian C0337816 A person having origins in any of the original peoples of Russia. Russian RUSSIAN Russian Russian Denotes the inhabitants of Sweden, a person from there, or their descendants elsewhere. C43861 Population Group Swedish C1710263 Swedish Swedish Swedish Denotes the inhabitants of Norway, a person from there, or their descendants elsewhere. C43862 Population Group Norwegian C0337812 Norwegian Norwegian Norwegian Denotes the inhabitants of Ukraine, a person from there, or their descendants elsewhere. C43863 Population Group Ukranian C1710525 Ukranian Ukranian Ukranian Denotes the inhabitants of Mongolia, a person from there, or their descendants elsewhere. C43864 Population Group Mongolian C1709065 A person having origins in any of the original peoples of Mongolia. Mongolian MONGOLIAN Mongolian Mongolian Denotes the inhabitants of Finland, a person from there, or their descendants elsewhere. C43865 Population Group Finnish C1711254 Finnish Finnish Finnish Denotes a person from any of the countries of southwest Asia and northeastern Africa; this region includes those countries east of Egypt and south of Turkey and extending to Iran in the east. C43866 Population Group Middle Eastern or North African C1553353 Middle_Eastern_or_North_African Middle Eastern or North African Middle Eastern or North African A collective term used to identify indigenous peoples of northern Iraq and neighboring areas of Syria and Turkey, who also identify themselves as Aramaeans and Chaldeans. They are the survivors of the formerly extensive Aramaic- or Syriac- speaking Christian community of northern Iraq, southeastern Turkey, and northwestern Iran. C43867 Population Group Assyrian C1553354 Assyrian Assyrian Assyrian Denotes the inhabitants of Egypt, a person from there, or their descendants elsewhere. C43868 Population Group Egyptian C0337801 Egyptian Egyptian Egyptian Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere. C43869 Population Group Iranian C1553355 Iranian Iranian Iranian Denotes the inhabitants of Iraq, a person from there, or their descendants elsewhere. C43870 Population Group Iraqi C1556087 Iraqi Iraqi Iraqi Denotes the inhabitants of Lebanon, a person from there, or their descendants elsewhere. C43871 Population Group Lebanese C1553356 Lebanese Lebanese Lebanese Denotes those persons of mainly Arabic speakers who regard themselves as a distinct branch of the Arabic-speaking peoples, with family origin in Palestine being the defining characteristic. C43872 Population Group Palestinian C0282539 Palestinian Palestinian Palestinian Denotes the inhabitants of Syria, a person from there, or their descendants elsewhere. C43873 Population Group Syrian C0337819 Syrian Syrian Syrian Denotes the inhabitants of Afghanistan, a person from there, or their descendants elsewhere. C43874 Population Group Afghanistani C1553357 Afghanistani Afghanistani Afghanistani Denotes the inhabitants of Israel, a person from there, or their descendants elsewhere. C43875 Population Group Israeli C0240069 Israeli Israeli Israeli Denotes a person with ethnic origins in the Semitic people originally from the Arabian peninsula and surrounding territories in the Middle East and northern Africa. C43876 Population Group Arab C0282540 A person having origins in any of the original peoples of the Arabian peninsula and surrounding territories in the Middle East and northern Africa. Arab ARAB Arab Arab Denotes a person having origins in one of the indigenous peoples of North America, who lived on the continent prior to the European colonization. The term includes individuals belonging to a large number of tribes, states, and ethnic groups, many of them still enduring as communities. C43877 Population Group American Indian C0002460 The native people of North America. American_Indian AMERICAN INDIAN American Indian American Indian C43878 Population Group Abenaki C1555038 Abenaki Abenaki Abenaki C43879 Population Group Algonquian C1555039 Algonquian Algonquian Algonquian C43880 Population Group Apache C0337855 Apache Apache Apache C43881 Population Group Chiricahua C1555040 Chiricahua Chiricahua Chiricahua C43882 Population Group Fort Sill Apache C1555041 Fort_Sill_Apache Fort Sill Apache Fort Sill Apache C43883 Population Group Jicarilla Apache C1555042 Jicarilla_Apache Jicarilla Apache Jicarilla Apache C43884 Population Group Lipan Apache C1555043 Lipan_Apache Lipan Apache Lipan Apache C43885 Population Group Mescalero Apache C1555044 Mescalero_Apache Mescalero Apache Mescalero Apache C43886 Population Group Oklahoma Apache C1555045 Oklahoma_Apache Oklahoma Apache Oklahoma Apache C43887 Population Group Payson Apache C1555046 Payson_Apache Payson Apache Payson Apache C43888 Population Group San Carlos Apache C1555047 San_Carlos_Apache San Carlos Apache San Carlos Apache C43889 Population Group White Mountain Apache C1555048 White_Mountain_Apache White Mountain Apache White Mountain Apache C43890 Population Group Arapaho C0682104 Arapaho Arapaho Arapaho C43891 Population Group Northern Arapaho C1555049 Northern_Arapaho Northern Arapaho Northern Arapaho C43892 Population Group Southern Arapaho C1555050 Southern_Arapaho Southern Arapaho Southern Arapaho C43893 Population Group Wind River Arapaho C1555051 Wind_River_Arapaho Wind River Arapaho Wind River Arapaho C43894 Population Group Arikara C1555052 Arikara Arikara Arikara C43895 Population Group Assiniboine C1555053 Assiniboine Assiniboine Assiniboine C43896 Population Group Assiniboine Sioux C1555054 Assiniboine_Sioux Assiniboine Sioux Assiniboine Sioux C43897 Population Group Fort Peck Assiniboine Sioux C1555055 Fort_Peck_Assiniboine_Sioux Fort Peck Assiniboine Sioux Fort Peck Assiniboine Sioux C43898 Population Group Bannock C1555056 Bannock Bannock Bannock C43899 Population Group Blackfeet C0337860 Blackfeet Blackfeet Blackfeet C43900 Population Group Brotherton C1555057 Brotherton Brotherton Brotherton C43901 Population Group Burt Lake Band C1555058 Burt_Lake_Band Burt Lake Band Burt Lake Band C43902 Population Group Caddo C1555059 Caddo Caddo Caddo C43903 Population Group Oklahoma Cado C1555060 Oklahoma_Cado Oklahoma Cado Oklahoma Cado C43904 Population Group Cahuilla C1555061 Cahuilla Cahuilla Cahuilla C43905 Population Group Agua Caliente Cahuilla C1555062 Agua_Caliente_Cahuilla Agua Caliente Cahuilla Agua Caliente Cahuilla C43909 Population Group Augustine C1555063 Augustine Augustine Augustine C43910 Population Group Cabazon C1555064 Cabazon Cabazon Cabazon C43911 Population Group Los Coyotes C1555065 Los_Coyotes Los Coyotes Los Coyotes C43912 Population Group Morongo C1555066 Morongo Morongo Morongo C43913 Population Group Santa Rosa Cahuilla C1555067 Santa_Rosa_Cahuilla Santa Rosa Cahuilla Santa Rosa Cahuilla C43914 Population Group Torres-Martinez C1555068 Torres_Martinez Torres-Martinez Torres-Martinez C43915 Population Group California Tribes C1555069 California_Tribes California Tribes California Tribes C43916 Population Group Canadian and Latin American Indian C1555083 Canadian_and_Latin_American_Indian Canadian and Latin American Indian Canadian and Latin American Indian C43917 Population Group Catawba C0682102 Catawba Catawba Catawba C43918 Population Group Cayuse C1555088 Cayuse Cayuse Cayuse C43919 Population Group Chehalis C1555089 Chehalis Chehalis Chehalis C43920 Population Group Chemakuan C1555090 Chemakuan Chemakuan Chemakuan C43921 Population Group Hoh C1555091 Hoh Hoh Hoh C43922 Population Group Quileute C1555092 Quileute Quileute Quileute C43923 Population Group Chemehuevi C1555093 Chemehuevi Chemehuevi Chemehuevi C43924 Population Group Cherokee C0682103 Cherokee Cherokee Cherokee C43925 Population Group Cherokee Shawnee C1555104 Cherokee_Shawnee Cherokee Shawnee Cherokee Shawnee C43926 Population Group Cheyenne C0682106 Cheyenne Cheyenne Cheyenne C43927 Population Group Northern Cheyenne C1555105 Northern_Cheyenne Northern Cheyenne Northern Cheyenne C43928 Population Group Southern Cheyenne C1555106 Southern_Cheyenne Southern Cheyenne Southern Cheyenne C43929 Population Group Cheyenne-Arapaho C1555107 Cheyenne_Arapaho Cheyenne-Arapaho Cheyenne-Arapaho C43930 Population Group Chickahominy C1555108 Chickahominy Chickahominy Chickahominy C43931 Population Group Eastern Chickahominy C1555109 Eastern_Chickahominy Eastern Chickahominy Eastern Chickahominy C43932 Population Group Western Chickahominy C1555110 Western_Chickahominy Western Chickahominy Western Chickahominy C43933 Population Group Chickasaw C0682101 Chickasaw Chickasaw Chickasaw C43934 Population Group Chinook C1555111 Chinook Chinook Chinook C43935 Population Group Chippewa C0337862 Chippewa Chippewa Chippewa C43936 Population Group Chippewa Cree C1555144 Chippewa_Cree Chippewa Cree Chippewa Cree C43937 Population Group Rocky Boy's Chippewa Cree C1555145 Rocky_Boy_s_Chippewa_Cree Rocky Boy's Chippewa Cree Rocky Boy's Chippewa Cree C43938 Population Group Chitimacha C1555146 Chitimacha Chitimacha Chitimacha C43939 Population Group Choctaw C0682100 Choctaw Choctaw Choctaw C43940 Population Group Clifton Choctaw C1555147 Clifton_Choctaw Clifton Choctaw Clifton Choctaw C43941 Population Group Jena Choctaw C1555148 Jena_Choctaw Jena Choctaw Jena Choctaw C43942 Population Group Mississippi Choctaw C1555149 Mississippi_Choctaw Mississippi Choctaw Mississippi Choctaw C43943 Population Group Mowa Band of Choctaw C1555150 Mowa_Band_of_Choctaw Mowa Band of Choctaw Mowa Band of Choctaw C43944 Population Group Oklahoma Choctaw C1555151 Oklahoma_Choctaw Oklahoma Choctaw Oklahoma Choctaw C43945 Population Group Chumash C0682116 Chumash Chumash Chumash C43946 Population Group Santa Ynez C1555152 Santa_Ynez Santa Ynez Santa Ynez C43947 Population Group Clear Lake C1555153 Clear_Lake Clear Lake Clear Lake C43948 Population Group Coeur D'Alene C1555154 Coeur_D_Alene Coeur D'Alene Coeur D'Alene C43949 Population Group Coharie C1555155 Coharie Coharie Coharie C43950 Population Group Colorado River C1555156 Colorado_River Colorado River Colorado River C43951 Population Group Colville C1555157 Colville Colville Colville C43952 Population Group Comanche C0682105 Comanche Comanche Comanche C43953 Population Group Oklahoma Comanche C1555158 Oklahoma_Comanche Oklahoma Comanche Oklahoma Comanche C43954 Population Group Coos Lower Umpqua Siuslaw C1555159 Coos_Lower_Umpqua_Siuslaw Coos Lower Umpqua Siuslaw Coos Lower Umpqua Siuslaw C43955 Population Group Coos C1555160 Coos Coos Coos C43956 Population Group Coquilles C1555161 Coquilles Coquilles Coquilles C43957 Population Group Costanoan C1555162 Costanoan Costanoan Costanoan C43958 Population Group Coushatta C0337865 Coushatta Coushatta Coushatta C43959 Population Group Alabama Coushatta C1555163 Alabama_Coushatta Alabama Coushatta Alabama Coushatta C43961 Population Group Cowlitz C1555164 Cowlitz Cowlitz Cowlitz C43962 Population Group Cree C0702268 Cree Cree Cree C43963 Population Group Creek C1555165 Creek Creek Creek C43964 Population Group Croatan C1555178 Croatan Croatan Croatan C43965 Population Group Crow C1555179 Crow Crow Crow C43967 Population Group Cupeno C1555180 Cupeno Cupeno Cupeno C43968 Population Group Agua Caliente C1555181 Agua_Caliente Agua Caliente Agua Caliente C43969 Population Group Delaware C1555182 Delaware_Indian Delaware Delaware C43970 Population Group Diegueno C0337867 Diegueno Diegueno Diegueño Diegueno C43971 Population Group Eastern Tribes C1555198 Eastern_Tribes Eastern Tribes Eastern Tribes C43972 Population Group Esselen C1555214 Esselen Esselen Esselen C43973 Population Group Fort Belknap C1555215 Fort_Belknap Fort Belknap Fort Belknap C43974 Population Group Fort Berthold C1555216 Fort_Berthold Fort Berthold Fort Berthold C43975 Population Group Fort McDowell C1555217 Fort_McDowell Fort McDowell Fort Mcdowell Fort McDowell C43976 Population Group Fort Hall C1555218 Fort_Hall Fort Hall Fort Hall C43977 Population Group Gabrieleno C1555219 Gabrieleno Gabrieleno Gabrieleno C43978 Population Group Grand Ronde C1555220 Grand_Ronde Grand Ronde Grand Ronde C43979 Population Group Gros Ventres C1555221 Gros_Ventres Gros Ventres Gros Ventres C43980 Population Group Atsina C1555222 Atsina Atsina Atsina C43981 Population Group Haliwa C1555223 Haliwa Haliwa Haliwa C43982 Population Group Hidatsa C1555224 Hidatsa Hidatsa Hidatsa C43983 Population Group Hoopa C1555225 Hoopa Hoopa Hoopa C43984 Population Group Trinity C1555226 Trinity Trinity Trinity C43985 Population Group Whilkut C1555227 Whilkut Whilkut Whilkut C43986 Population Group Hoopa Extension C1555228 Hoopa_Extension Hoopa Extension Hoopa Extension C43987 Population Group Houma C1555229 Houma Houma Houma C43988 Population Group Inaja-Cosmit C1555230 Inaja_Cosmit Inaja-Cosmit Inaja-Cosmit C43989 Population Group Iowa C1555231 Iowa_Indian Iowa Iowa C43990 Population Group Iowa of Kansas-Nebraska C1555232 Iowa_of_Kansas_Nebraska Iowa of Kansas-Nebraska Iowa of Kansas-Nebraska C43991 Population Group Iowa of Oklahoma C1555233 Iowa_of_Oklahoma Iowa of Oklahoma Iowa of Oklahoma C43992 Population Group Iroquois C0682098 Iroquois Iroquois Iroquois C43993 Population Group Juaneno C1555243 Juaneno Juaneno Juaneno C43994 Population Group Kalispel C1555244 Kalispel Kalispel Kalispel C43995 Population Group Karuk C1555245 Karuk Karuk Karuk C43996 Population Group Kaw C1555246 Kaw Kaw Kaw C43997 Population Group Kickapoo C1555247 Kickapoo Kickapoo Kickapoo C43998 Population Group Oklahoma Kickapoo C1555248 Oklahoma_Kickapoo Oklahoma Kickapoo Oklahoma Kickapoo C43999 Population Group Texas Kickapoo C1555249 Texas_Kickapoo Texas Kickapoo Texas Kickapoo C44000 Population Group Kiowa C1555250 Kiowa Kiowa Kiowa C44001 Population Group Oklahoma Kiowa C1555251 Oklahoma_Kiowa Oklahoma Kiowa Oklahoma Kiowa C44002 Population Group Klallam C1555252 Klallam Klallam Klallam C44003 Population Group Jamestown C1555253 Jamestown Jamestown Jamestown C44004 Population Group Lower Elwha C1555254 Lower_Elwha Lower Elwha Lower Elwha C44005 Population Group Port Gamble Klallam C1555255 Port_Gamble_Klallam Port Gamble Klallam Port Gamble Klallam C44006 Population Group Klamath C1555256 Klamath Klamath Klamath C44007 Population Group Konkow C1555257 Konkow Konkow Konkow C44008 Population Group Kootenai C1555258 Kootenai Kootenai Kootenai C44009 Population Group Lassik C1555259 Lassik Lassik Lassik C44010 Population Group Long Island C1555260 Long_Island Long Island Long Island C44011 Population Group Matinecock C1555261 Matinecock Matinecock Matinecock C44012 Population Group Montauk C1555262 Montauk Montauk Montauk C44013 Population Group Poospatuck C1555263 Poospatuck Poospatuck Poospatuck C44014 Population Group Setauket C1555264 Setauket Setauket Setauket C44015 Population Group Luiseno C0682114 Luiseno Luiseno Luiseno C44016 Population Group La Jolla C1555265 La_Jolla La Jolla La Jolla C44017 Population Group Pala C1555266 Pala Pala Pala C44018 Population Group Pauma C1555267 Pauma Pauma Pauma C44019 Population Group Pechanga C1555268 Pechanga Pechanga Pechanga C44020 Population Group Soboba C1555269 Soboba SoboInOwlba Soboba C44021 Population Group Twenty-Nine Palms C1555270 Twenty_Nine_Palms Twenty-Nine Palms Twenty-Nine Palms C44022 Population Group Temecula C1555271 Temecula Temecula Temecula C44023 Population Group Lumbee C1555272 Lumbee Lumbee Lumbee C44024 Population Group Lummi C1555273 Lummi Lummi Lummi C44025 Population Group Maidu C1555274 Maidu Maidu Maidu C44026 Population Group Mountain Maidu C1555275 Mountain_Maidu Mountain Maidu Mountain Maidu C44027 Population Group Nishinam C1551415 Nishinam Nishinam Nishinam C44028 Population Group Makah C1551416 Makah Makah Makah C44029 Population Group Maliseet C1551417 Maliseet Maliseet Maliseet C44030 Population Group Mandan C1551418 Mandan Mandan Mandan C44031 Population Group Mattaponi C1551419 Mattaponi Mattaponi Mattaponi C44032 Population Group Menominee C1551420 Menominee Menominee Menominee C44033 Population Group Miami C1551421 Miami Miami Miami C44034 Population Group Illinois Miami C1551422 Illinois_Miami Illinois Miami Illinois Miami C44035 Population Group Indiana Miami C1551423 Indiana_Miami Indiana Miami Indiana Miami C44036 Population Group Oklahoma Miami C1551424 Oklahoma_Miami Oklahoma Miami Oklahoma Miami C44037 Population Group Miccosukee C1551425 Miccosukee Miccosukee Miccosukee C44038 Population Group Micmac C1551426 Micmac Micmac Micmac C44039 Population Group Aroostook C1551427 Aroostook Aroostook Aroostook C44040 Population Group Mission Indians C1551428 Mission_Indians Mission Indians Mission Indians C44041 Population Group Miwok C1551429 Miwok Miwok Miwok C44042 Population Group Modoc C1551430 Modoc Modoc Modoc C44043 Population Group Mohegan C1551431 Mohegan Mohegan Mohegan C44044 Population Group Mono C1551432 Mono Mono Mono C44045 Population Group Nanticoke C1551433 Nanticoke Nanticoke Nanticoke C44046 Population Group Narragansett C1551434 Narragansett Narragansett Narragansett C44048 Population Group Dine C0337879 Dine Dine Navaho Navajo Dine C44049 Population Group Alamo Dine C1551435 Alamo_Dine Alamo Dine Alamo Navaho Alamo Navajo Alamo Dine C44050 Population Group Canoncito Dine C1551436 Canoncito_Dine Canoncito Dine Canoncito Navaho Canoncito Navajo Canoncito Dine C44051 Population Group Ramah Dine C1551437 Ramah_Dine Ramah Dine Ramah Navaho Ramah Navajo Ramah Dine C44052 Population Group Nez Perce C0337880 Nez_Perce Nez Perce Nez Percé Nez Perce C44053 Population Group Nomalaki C1551438 Nomalaki Nomalaki Nomalaki C44054 Population Group Northwest Tribes C1551439 Northwest_Tribes Northwest Tribes Northwest Tribes C44055 Population Group Alsea C1551440 Alsea Alsea Alsea C44056 Population Group Celilo C1551441 Celilo Celilo Celilo C44057 Population Group Columbia C1551442 Columbia_Indian Columbia Columbia C44058 Population Group Kalapuya C1551443 Kalapuya Kalapuya Kalapuya C44059 Population Group Molala C1551444 Molala Molala Molala C44060 Population Group Talakamish C1551445 Talakamish Talakamish Talakamish C44061 Population Group Tenino C1551446 Tenino Tenino Tenino C44062 Population Group Tillamook C1551447 Tillamook Tillamook Tillamook C44063 Population Group Wenatchee C1551448 Wenatchee Wenatchee Wenatchee C44064 Population Group Yahooskin C1551449 Yahooskin Yahooskin Yahooskin C44065 Population Group Omaha C1551450 Omaha Omaha Omaha C44066 Population Group Oregon Athabaskan C1551451 Oregon_Athabaskan Oregon Athabaskan Oregon Athabaskan C44067 Population Group Osage C1551452 Osage Osage Osage C44068 Population Group Otoe-Missouria C1551453 Otoe_Missouria Otoe-Missouria Otoe-Missouria C44069 Population Group Ottawa C1551454 Ottawa Ottawa Ottawa C44070 Population Group Burt Lake Ottawa C1551455 Burt_Lake_Ottawa Burt Lake Ottawa Burt Lake Ottawa C44071 Population Group Michigan Ottawa C1551456 Michigan_Ottawa Michigan Ottawa Michigan Ottawa C44072 Population Group Oklahoma Ottawa C1551457 Oklahoma_Ottawa Oklahoma Ottawa Oklahoma Ottawa C44073 Population Group Paiute C0682113 Paiute Paiute Paiute C44074 Population Group Pamunkey C1551479 Pamunkey Pamunkey Pamunkey C44075 Population Group Passamaquoddy C1551480 Passamaquoddy Passamaquoddy Passamaquoddy C44076 Population Group Indian Township C1551481 Indian_Township Indian Township Indian Township C44077 Population Group Pleasant Point Passamaquoddy C1551482 Pleasant_Point_Passamaquoddy Pleasant Point Passamaquoddy Pleasant Point Passamaquoddy C44078 Population Group Pawnee C0682108 Pawnee Pawnee Pawnee C44079 Population Group Oklahoma Pawnee C1551483 Oklahoma_Pawnee Oklahoma Pawnee Oklahoma Pawnee C44080 Population Group Penobscot C0682097 Penobscot Penobscot Penobscot C44081 Population Group Peoria C1551484 Peoria Peoria Peoria C44082 Population Group Oklahoma Peoria C1551485 Oklahoma_Peoria Oklahoma Peoria Oklahoma Peoria C44083 Population Group Pequot C1551486 Pequot Pequot Pequot C44084 Population Group Marshantucket Pequot C1551487 Marshantucket_Pequot Marshantucket Pequot Marshantucket Pequot C44085 Population Group Pima C1551488 Pima Pima Pima C44086 Population Group Gila River Pima-Maricopa C1551489 Gila_River_Pima_Maricopa Gila River Pima-Maricopa Gila River Pima-Maricopa C44087 Population Group Salt River Pima-Maricopa C1551490 Salt_River_Pima_Maricopa Salt River Pima-Maricopa Salt River Pima-Maricopa C44088 Population Group Piscataway C1551491 Piscataway Piscataway Piscataway C44089 Population Group Pit River C1551492 Pit_River Pit River Pit River C44090 Population Group Pomo C1551493 Pomo Pomo Pomo C44091 Population Group Ponca C1551502 Ponca Ponca Ponca C44092 Population Group Nebraska Ponca C1551503 Nebraska_Ponca Nebraska Ponca Nebraska Ponca C44093 Population Group Oklahoma Ponca C1551504 Oklahoma_Ponca Oklahoma Ponca Oklahoma Ponca C44094 Population Group Potawatomi C1551505 Potawatomi Potawatomi Potawatomi C44095 Population Group Powhatan C1551513 Powhatan Powhatan Powhatan C44096 Population Group Pueblo C1556090 Pueblo Pueblo Pueblo C44102 Population Group Puget Sound Salish C1551539 Puget_Sound_Salish Puget Sound Salish Puget Sound Salish C44103 Population Group Quapaw C1551561 Quapaw Quapaw Quapaw C44104 Population Group Quinault C1551562 Quinault Quinault Quinault C44105 Population Group Rappahannock C1551563 Rappahannock Rappahannock Rappahannock C44106 Population Group Reno-Sparks C1551564 Reno_Sparks Reno-Sparks Reno-Sparks C44107 Population Group Round Valley C1551565 Round_Valley Round Valley Round Valley C44108 Population Group Sac and Fox C1551566 Sac_and_Fox Sac and Fox Sac and Fox C44109 Population Group Iowa Sac and Fox C1551567 Iowa_Sac_and_Fox Iowa Sac and Fox Iowa Sac and Fox C44110 Population Group Missouri Sac and Fox C1551568 Missouri_Sac_and_Fox Missouri Sac and Fox Missouri Sac and Fox C44111 Population Group Oklahoma Sac and Fox C1551569 Oklahoma_Sac_and_Fox Oklahoma Sac and Fox Oklahoma Sac and Fox C44112 Population Group Salinan C1551570 Salinan Salinan Salinan C44113 Population Group Salish C1551571 Salish Salish Salish C44114 Population Group Salish and Kootenai C1551572 Salish_and_Kootenai Salish and Kootenai Salish and Kootenai C44115 Population Group Schaghticoke C1551573 Schaghticoke Schaghticoke Schaghticoke C44116 Population Group Scott Valley C1551574 Scott_Valley Scott Valley Scott Valley C44117 Population Group Seminole C1556091 Seminole Seminole Seminole C44118 Population Group Big Cypress C1551575 Big_Cypress Big Cypress Big Cypress C44119 Population Group Brighton C1551576 Brighton Brighton Brighton C44120 Population Group Florida Seminole C1551577 Florida_Seminole Florida Seminole Florida Seminole C44121 Population Group Hollywood Seminole C1551578 Hollywood_Seminole Hollywood Seminole Hollywood Seminole C44122 Population Group Oklahoma Seminole C1551579 Oklahoma_Seminole Oklahoma Seminole Oklahoma Seminole C44123 Population Group Serrano C1551580 Serrano Serrano Serrano C44124 Population Group San Manual C1551581 San_Manual San Manual San Manual C44125 Population Group Shasta C1551582 Shasta Shasta Shasta C44126 Population Group Shawnee C1551583 Shawnee Shawnee Shawnee C44127 Population Group Absentee Shawnee C1551584 Absentee_Shawnee Absentee Shawnee Absentee Shawnee C44128 Population Group Eastern Shawnee C1551585 Eastern_Shawnee Eastern Shawnee Eastern Shawnee C44129 Population Group Shinnecock C1551586 Shinnecock Shinnecock Shinnecock C44130 Population Group Shoalwater Bay C1551587 Shoalwater_Bay Shoalwater Bay Shoalwater Bay C44131 Population Group Shoshone C0337886 Shoshone Shoshone Shoshone C44132 Population Group Shoshone Paiute C1551602 Shoshone_Paiute Shoshone Paiute Shoshone Paiute C44133 Population Group Duck Valley C1551603 Duck_Valley Duck Valley Duck Valley C44134 Population Group Fallon C1551604 Fallon Fallon Fallon C44135 Population Group Fort McDermitt C1551605 Fort_McDermitt Fort McDermitt Fort McDermitt C44136 Population Group Siletz C1551606 Siletz Siletz Siletz C44137 Population Group Sioux C0682107 Sioux Sioux Sioux C44138 Population Group Blackfoot Sioux C1551607 Blackfoot_Sioux Blackfoot Sioux Blackfoot Sioux C44139 Population Group Brule Sioux C1551608 Brule_Sioux Brule Sioux Brule Sioux C44140 Population Group Cheyenne River Sioux C1551609 Cheyenne_River_Sioux Cheyenne River Sioux Cheyenne River Sioux C44141 Population Group Lakota C1551631 Lakota Lakota Lakota Sioux Teton Sioux Lakota C44142 Population Group Dakota C1551611 Dakota Dakota Dakota Sioux Dakota C44143 Population Group Nakota CL448673 Nakota Nakota Nakota Sioux Nakota C44144 Population Group Crow Creek Sioux C1551610 Crow_Creek_Sioux Crow Creek Sioux Crow Creek Sioux C44145 Population Group Flandreau Santee C1551612 Flandreau_Santee Flandreau Santee Flandreau Santee C44146 Population Group Lake Traverse Sioux C1551614 Lake_Traverse_Sioux Lake Traverse Sioux Lake Traverse Sioux C44147 Population Group Fort Peck Sioux C1551613 Fort_Peck_Sioux Fort Peck Fort Peck Sioux Fort Peck Sioux C44148 Population Group Lower Brule Sioux C1551615 Lower_Brule_Sioux Lower Brule Sioux Lower Brule Sioux C44149 Population Group Lower Sioux C1551616 Lower_Sioux Lower Sioux Lower Sioux C44150 Population Group Mdewakanton Sioux C1551617 Mdewakanton_Sioux Mdewakanton Sioux Mdewakanton Sioux C44151 Population Group Miniconjou C1551618 Miniconjou Miniconjou Miniconjou C44152 Population Group Oglala Sioux C1551619 Oglala_Sioux Oglala Sioux Oglala Sioux C44153 Population Group Pine Ridge Sioux C1551620 Pine_Ridge_Sioux Pine Ridge Sioux Pine Ridge Sioux C44154 Population Group Pipestone Sioux C1551621 Pipestone_Sioux Pipestone Sioux Pipestone Sioux C44155 Population Group Prairie Island Sioux C1551622 Prairie_Island_Sioux Prairie Island Sioux Prairie Island Sioux C44156 Population Group Prior Lake Sioux C1551623 Prior_Lake_Sioux Prior Lake Sioux Prior Lake Sioux C44157 Population Group Rosebud Sioux C1551624 Rosebud_Sioux Rosebud Sioux Rosebud Sioux C44158 Population Group Sans Arc Sioux C1551625 Sans_Arc_Sioux Sans Arc Sioux Sans Arc Sioux C44159 Population Group Santee Sioux C1551626 Santee_Sioux Santee Sioux Santee Sioux C44160 Population Group Sisseton-Wahpeton C1551627 Sisseton_Wahpeton Sisseton-Wahpeton Sisseton-Wahpeton C44161 Population Group Sisseton Sioux C1551628 Sisseton_Sioux Sisseton Sioux Sisseton Sioux C44162 Population Group Wahpeton Sioux C1551635 Wahpeton_Sioux Wahpeton Sioux Wahpeton Sioux C44163 Population Group Spirit Lake Sioux C1551629 Spirit_Lake_Sioux Spirit Lake Sioux Spirit Lake Sioux C44164 Population Group Standing Rock Sioux C1551630 Standing_Rock_Sioux Standing Rock Sioux Standing Rock Sioux C44165 Population Group Two Kettle Sioux C1551632 Two_Kettle_Sioux Two Kettle Sioux Two Kettle Sioux C44187 Population Group Upper Sioux C1551633 Upper_Sioux Upper Sioux Upper Sioux C44188 Population Group Wahpekute Sioux C1551634 Wahpekute_Sioux Wahpekute Sioux Wahpekute Sioux C44189 Population Group Wazhaza Sioux C1551636 Wazhaza_Sioux Wazhaza Sioux Wazhaza Sioux C44190 Population Group Yankton Sioux C1551637 Yankton_Sioux Yankton Sioux Yankton Sioux C44191 Population Group Yanktonai Sioux C1551638 Yanktonai_Sioux Yanktonai Sioux Yanktonai Sioux C44192 Population Group Siuslaw C1551639 Siuslaw Siuslaw Siuslaw C44193 Population Group Spokane C1551640 Spokane Spokane Spokane C44194 Population Group Stewart C1551641 Stewart Stewart Stewart C44195 Population Group Stockbridge C1551642 Stockbridge Stockbridge Stockbridge C44196 Population Group Susanville C1551643 Susanville Susanville Susanville C44197 Population Group Tohono O'Odham C1551644 Tohono_O_Odham Tohono O'Odham Tohono O'Odham C44198 Population Group Ak-Chin C1551645 Ak_Chin Ak-Chin Ak-Chin C44199 Population Group Gila Bend C1551646 Gila_Bend Gila Bend Gila Bend C44200 Population Group San Xavier C1551647 San_Xavier San Xavier San Xavier C44201 Population Group Sells C1551648 Sells Sells Sells C44202 Population Group Tolowa C1551649 Tolowa Tolowa Tolowa C44203 Population Group Tonkawa C1551650 Tonkawa Tonkawa Tonkawa C44204 Population Group Tygh C1551651 Tygh Tygh Tygh C44205 Population Group Umatilla C1551652 Umatilla Umatilla Umatilla C44206 Population Group Umpqua C1551653 Umpqua Umpqua Umpqua C44207 Population Group Cow Creek Umpqua C1551654 Cow_Creek_Umpqua Cow Creek Umpqua Cow Creek Umpqua C44208 Population Group Ute C1556092 Ute Ute Ute C44209 Population Group Allen Canyon C1551655 Allen_Canyon Allen Canyon Allen Canyon C44210 Population Group Uintah Ute C1551656 Uintah_Ute Uintah Ute Uintah Ute C44211 Population Group Ute Mountain Ute C1551657 Ute_Mountain_Ute Ute Mountain Ute Ute Mountain Ute C44212 Population Group Wailaki C1551658 Wailaki Wailaki Wailaki C44213 Population Group Walla-Walla C1551659 Walla_Walla Walla-Walla Walla-Walla C44214 Population Group Wampanoag C1551660 Wampanoag Wampanoag Wampanoag C44215 Population Group Gay Head Wampanoag C1551661 Gay_Head_Wampanoag Gay Head Wampanoag Gay Head Wampanoag C44216 Population Group Mashpee Wampanoag C1551662 Mashpee_Wampanoag Mashpee Wampanoag Mashpee Wampanoag C44217 Population Group Warm Springs C1551663 Warm_Springs Warm Springs Warm Springs C44218 Population Group Wascopum C1551664 Wascopum Wascopum Wascopum C44219 Population Group Washoe C1551665 Washoe Washoe Washoe C44220 Population Group Alpine C1551666 Alpine Alpine Alpine C44221 Population Group Carson C1551667 Carson Carson Carson C44222 Population Group Dresslerville C1551668 Dresslerville Dresslerville Dresslerville C44223 Population Group Wichita C1551669 Wichita Wichita Wichita C44224 Population Group Wind River C1551670 Wind_River Wind River Wind River C44225 Population Group Winnebago C1551671 Winnebago Winnebago Winnebago C44226 Population Group Ho-Chunk C1551672 Ho_Chunk Ho-Chunk Ho-Chunk C44227 Population Group Nebraska Winnebago C1551673 Nebraska_Winnebago Nebraska Winnebago Nebraska Winnebago C44228 Population Group Winnemucca C1551674 Winnemucca Winnemucca Winnemucca C44229 Population Group Wintun C1551675 Wintun Wintun Wintun C44230 Population Group Wiyot C1551676 Wiyot Wiyot Wiyot C44231 Population Group Table Bluff C1551677 Table_Bluff Table Bluff Table Bluff C44232 Population Group Yakama C1551678 Yakama Yakama Yakama C44233 Population Group Yakama Cowlitz C1551679 Yakama_Cowlitz Yakama Cowlitz Yakama Cowlitz C44234 Population Group Yaqui C1551680 Yaqui Yaqui Yaqui C44236 Population Group Barrio Libre C1551681 Barrio_Libre Barrio Libre Barrio Libre C44237 Population Group Pascua Yaqui C1551682 Pascua_Yaqui Pascua Yaqui Pascua Yaqui C44238 Population Group Yavapai Apache C1551683 Yavapai_Apache Yavapai Apache Yavapai Apache C44239 Population Group Yokuts C1551684 Yokuts Yokuts Yokuts C44240 Population Group Chukchansi C1551685 Chukchansi Chukchansi Chukchansi C44241 Population Group Tachi C1551686 Tachi Tachi Tachi C44242 Population Group Tule River C1551687 Tule_River Tule River Tule River C44244 Population Group Yuchi C1551688 Yuchi Yuchi Yuchi C44245 Population Group Yuman C1551689 Yuman Yuman Yuman C44246 Population Group Cocopah C1551690 Cocopah Cocopah Cocopah C44247 Population Group Havasupai C1551691 Havasupai Havasupai Havasupai C44248 Population Group Hualapai C1551692 Hualapai Hualapai Hualapai C44249 Population Group Maricopa C1551693 Maricopa Maricopa Maricopa C44250 Population Group Mohave C1551694 Mohave Mohave Mohave C44251 Population Group Quechan C1551695 Quechan Quechan Quechan C44252 Population Group Yurok C1551697 Yurok Yurok Yurok C44253 Population Group Coast Yurok C1551698 Coast_Yurok Coast Yurok Coast Yurok C44254 Population Group Alaskan Athabascan C1551699 Alaskan_Athabascan Alaskan Athabascan Alaskan Athabascan C44257 Population Group Southeast Alaska C1551770 Southeast_Alaska Southeast Alaska Southeast Alaska C44259 Population Group Tlingit-Haida C1551771 Tlingit_Haida Tlingit-Haida Tlinit-Haida Tlingit-Haida C44261 Population Group Tsimshian C1551792 Tsimshian Tsimshian Tsimshian C44263 Population Group Metlakatla C1551793 Metlakatla Metlakatla Metlakatla C44265 Population Group Greenland Eskimo C1551794 The native people of Greenland. Greenland_Eskimo GREENLAND INUIT Greenland Eskimo Greenland Eskimo C44268 Population Group Inupiat Eskimo C1551795 The native people inhabiting the territory spanning the Norton Sound on the Bering Sea to the Canadian border. Inupiat_Eskimo INUPIAT INUIT Inupiat Eskimo Inupiat Eskimo C44269 Population Group Siberian Eskimo C1551841 The native Yupik people inhabiting the coast of the Chukchi Peninsula in the far northeast of the Russian Federation and on St. Lawrence Island in Alaska. Siberian_Eskimo SIBERIAN ESKIMO Siberian Eskimo Siberian Eskimo C44270 Population Group Yupik Eskimo C1551845 The native people inhabiting western, southwestern, and southcentral Alaska and the Russian Far East. Yupik_Eskimo YUPIK ESKIMO Yupik Eskimo Yupik Eskimo C44286 Population Group Alutiiq Aleut C1553271 Alutiiq_Aleut Alutiiq Aleut Alutiiq Aleut C44287 Population Group Tatitlek C1553272 Tatitlek Tatitlek Tatitlek C44288 Population Group Ugashik C1553273 Ugashik Ugashik Ugashik C44289 Population Group Bristol Bay Aleut C1553507 Bristol_Bay_Aleut Bristol Bay Aleut Bristol Bay Aleut C44290 Population Group Chugach Aleut C1553284 Chugach_Aleut Chugach Aleut Chugach Aleut C44486 Population Group Eyak C1553289 Eyak Eyak Eyak C44487 Population Group Koniag Aleut C1553290 Koniag_Aleut Koniag Aleut Koniag Aleut C44488 Population Group Sugpiaq C1553299 Sugpiaq Sugpiaq Sugpiaq C44489 Population Group Suqpigaq C1553300 Suqpigaq Suqpigaq Suqpigaq C44490 Population Group Unangan Aleut C1553301 Unangan_Aleut Unangan Aleut Unangan Aleut C44491 Population Group Chenega C1553285 Chenega Chenega Chenega C44492 Population Group Chugach Corporation C1553286 Chugach_Corporation Chugach Corporation Chugach Corporation C44493 Population Group English Bay C1553287 English_Bay English Bay English Bay C44494 Population Group Port Graham C1553288 Port_Graham Port Graham Port Graham C44495 Population Group Akhiok C1553291 Akhiok Akhiok Akhiok C44496 Population Group Agdaagux C1553292 Agdaagux Agdaagux Agdaagux C44497 Population Group Karluk C1553293 Karluk Karluk Karluk C44498 Population Group Kodiak C1553294 Kodiak Kodiak Kodiak C44499 Population Group Larsen Bay C1553295 Larsen_Bay Larsen Bay Larsen Bay C44500 Population Group Old Harbor C1553296 Old_Harbor Old Harbor Old Harbor C44501 Population Group Ouzinkie C1553297 Ouzinkie Ouzinkie Ouzinkie C44502 Population Group Port Lions C1553298 Port_Lions Port Lions Port Lions C44503 Population Group Gambell C1551842 Gambell Gambell Gambell C44504 Population Group Savoonga C1551843 Savoonga Savoonga Savoonga C44505 Population Group Siberian Yupik C1551844 Siberian_Yupik Siberian Yupik Siberian Yupik C44506 Population Group Cahto C1555070 Cahto Cahto Cahto C44507 Population Group Chimariko C1555071 Chimariko Chimariko Chimariko C44508 Population Group Coast Miwok C1555072 Coast_Miwok Coast Miwok Coast Miwok C44509 Population Group Digger C1555073 Digger Digger Digger C44510 Population Group Kawaiisu C1555074 Kawaiisu Kawaiisu Kawaiisu C44511 Population Group Kern River C1555075 Kern_River Kern River Kern River C44512 Population Group Mattole C1555076 Mattole Mattole Mattole C44513 Population Group Red Wood C1555077 Red_Wood Red Wood Red Wood C44514 Population Group Santa Rosa C1555078 Santa_Rosa Santa Rosa Santa Rosa C44515 Population Group Takelma C1555079 Takelma Takelma Takelma C44516 Population Group Wappo C1555080 Wappo Wappo Wappo C44517 Population Group Yana C1555081 Yana Yana Yana C44518 Population Group Yuki C1555082 Yuki Yuki Yuki C44525 Population Group Campo C1555189 Campo Campo Campo C44526 Population Group Capitan Grande C1555190 Capitan_Grande Capitan Grande Capitan Grande C44527 Population Group Cuyapaipe C1555191 Cuyapaipe Cuyapaipe Cuyapaipe C44528 Population Group La Posta C1555192 La_Posta La Posta La Posta C44529 Population Group Manzanita C1555193 Manzanita Manzanita Manzanita C44530 Population Group Mesa Grande C1555194 Mesa_Grande Mesa Grande Mesa Grande C44531 Population Group San Pasqual C1555195 San_Pasqual San Pasqual San Pasqual C44532 Population Group Santa Ysabel C1555196 Santa_Ysabel Santa Ysabel Santa Ysabel C44533 Population Group Sycuan C1555197 Sycuan Sycuan Sycuan C44534 Population Group Bishop C1551458 Bishop Bishop Bishop C44535 Population Group Bridgeport C1551459 Bridgeport Bridgeport Bridgeport C44536 Population Group Burns Paiute C1551460 Burns_Paiute Burns Paiute Burns Paiute C44537 Population Group Cedarville C1551461 Cedarville Cedarville Cedarville C44538 Population Group Fort Bidwell C1551462 Fort_Bidwell Fort Bidwell Fort Bidwell C44539 Population Group Fort Independence C1551463 Fort_Independence Fort Independence Fort Independence C44540 Population Group Kaibab C1551464 Kaibab Kaibab Kaibab C44541 Population Group Las Vegas C1551465 Las_Vegas Las Vegas Las Vegas C44542 Population Group Lone Pine C1551466 Lone_Pine Lone Pine Lone Pine C44543 Population Group Lovelock C1551467 Lovelock Lovelock Lovelock C44544 Population Group Malheur Paiute C1551468 Malheur_Paiute Malheur Paiute Malheur Paiute C44545 Population Group Moapa C1551469 Moapa Moapa Moapa C44546 Population Group Northern Paiute C1551470 Northern_Paiute Northern Paiute Northern Paiute C44547 Population Group Owens Valley C1551471 Owens_Valley Owens Valley Owens Valley C44548 Population Group Pyramid Lake C1551472 Pyramid_Lake Pyramid Lake Pyramid Lake C44549 Population Group San Juan Southern Paiute C1551473 San_Juan_Southern_Paiute San Juan Southern Paiute San Juan Southern Paiute C44550 Population Group Southern Paiute C1551474 Southern_Paiute Southern Paiute Southern Paiute C44551 Population Group Summit Lake C1551475 Summit_Lake Summit Lake Summit Lake C44552 Population Group Utu Utu Gwaitu Paiute C1551476 Utu_Utu_Gwaitu_Paiute Utu Utu Gwaitu Paiute Utu Utu Gwaitu Paiute C44553 Population Group Walker River C1551477 Walker_River Walker River Walker River C44554 Population Group Yerington Paiute C1551478 Yerington_Paiute Yerington Paiute Yerington Paiute C44555 Population Group Battle Mountain C1551588 Battle_Mountain Battle Mountain Battle Mountain C44556 Population Group Duckwater C1551589 Duckwater Duckwater Duckwater C44557 Population Group Elko C1551590 Elko Elko Elko C44558 Population Group Ely C1551591 Ely Ely Ely C44559 Population Group Goshute C1551592 Goshute Goshute Goshute C44560 Population Group Panamint C1551593 Panamint Panamint Panamint C44561 Population Group Ruby Valley C1551594 Ruby_Valley Ruby Valley Ruby Valley C44562 Population Group Skull Valley C1551595 Skull_Valley Skull Valley Skull Valley C44563 Population Group South Fork Shoshone C1551596 South_Fork_Shoshone South Fork Shoshone South Fork Shoshone C44564 Population Group Te Moak Western Shoshone C1551597 Te_Moak_Western_Shoshone Te Moak Western Shoshone Te-Moak Western Shoshone Te Moak Western Shoshone C44565 Population Group Timbi Sha Shoshone C1551598 Timbi_Sha_Shoshone Timbi Sha Shoshone Timbi-Sha Shoshone Timbi Sha Shoshone C44566 Population Group Washakie C1551599 Washakie Washakie Washakie C44567 Population Group Wind River Shoshone C1551600 Wind_River_Shoshone Wind River Shoshone Wind River Shoshone C44568 Population Group Yomba C1551601 Yomba Yomba Yomba C44569 Population Group Akiachak C1551846 Akiachak Akiachak Akiachak C44570 Population Group Akiak C1551847 Akiak Akiak Akiak C44571 Population Group Alakanuk C1551848 Alakanuk Alakanuk Alakanuk C44572 Population Group Aleknagik C1551849 Aleknagik Aleknagik Aleknagik C44573 Population Group Andreafsky C1551850 Andreafsky Andreafsky Andreafsky C44574 Population Group Aniak C1551851 Aniak Aniak Aniak C44575 Population Group Atmautluak C1551852 Atmautluak Atmautluak Atmautluak C44576 Population Group Bethel C1551853 Bethel Bethel Bethel C44577 Population Group Bill Moore's Slough C1551854 Bill_Moore_s_Slough Bill Moore's Slough Bill Moore's Slough C44578 Population Group Bristol Bay Yupik C1551855 Bristol_Bay_Yupik Bristol Bay Yupik Bristol Bay Yupik C44579 Population Group Calista Yupik C1551856 Calista_Yupik Calista Yupik Calista Yupik C44580 Population Group Chefornak C1551857 Chefornak Chefornak Chefornak C44581 Population Group Chevak C1551858 Chevak Chevak Chevak C44582 Population Group Chuathbaluk C1551859 Chuathbaluk Chuathbaluk Chuathbaluk C44583 Population Group Clark's Point C1551860 Clark_s_Point Clark's Point Clark's Point C44584 Population Group Crooked Creek C1551861 Crooked_Creek Crooked Creek Crooked Creek C44585 Population Group Dillingham C1551862 Dillingham Dillingham Dillingham C44586 Population Group Eek C1551863 Eek Eek Eek C44587 Population Group Ekuk C1551864 Ekuk Ekuk Ekuk C44588 Population Group Ekwok C1551865 Ekwok Ekwok Ekwok C44589 Population Group Emmonak C1551866 Emmonak Emmonak Emmonak C44590 Population Group Goodnews Bay C1551867 Goodnews_Bay Goodnews Bay Goodnews Bay C44591 Population Group Hooper Bay C1551868 Hooper_Bay Hooper Bay Hooper Bay C44592 Population Group Iqurmuit Russian Mission C1551869 Iqurmuit_Russian_Mission Iqurmuit (Russian Mission) Iqurmuit Russian Mission Iqurmuit Russian Mission C44593 Population Group Kalskag C1551870 Kalskag Kalskag Kalskag C44594 Population Group Kasigluk C1551871 Kasigluk Kasigluk Kasigluk C44595 Population Group Kipnuk C1551872 Kipnuk Kipnuk Kipnuk C44596 Population Group Koliganek C1551873 Koliganek Koliganek Koliganek C44597 Population Group Kongiganak C1551874 Kongiganak Kongiganak Kongiganak C44598 Population Group Kotlik C1551875 Kotlik Kotlik Kotlik C44599 Population Group Kwethluk C1551876 Kwethluk Kwethluk Kwethluk C44600 Population Group Kwigillingok C1551877 Kwigillingok Kwigillingok Kwigillingok C44601 Population Group Levelock C1551878 Levelock Levelock Levelock C44602 Population Group Lower Kalskag C1551879 Lower_Kalskag Lower Kalskag Lower Kalskag C44603 Population Group Manokotak C1551880 Manokotak Manokotak Manokotak C44604 Population Group Marshall C1551881 Marshall Marshall Marshall C44605 Population Group Mekoryuk C1551882 Mekoryuk Mekoryuk Mekoryuk C44606 Population Group Mountain Village C1551883 Mountain_Village Mountain Village Mountain Village C44607 Population Group Naknek C1551884 Naknek Naknek Naknek C44608 Population Group Napaumute C1551885 Napaumute Napaumute Napaumute C44609 Population Group Napakiak C1551886 Napakiak Napakiak Napakiak C44610 Population Group Napaskiak C1551887 Napaskiak Napaskiak Napaskiak C44611 Population Group Newhalen C1553245 Newhalen Newhalen Newhalen C44612 Population Group New Stuyahok C1553246 New_Stuyahok New Stuyahok New Stuyahok C44613 Population Group Newtok C1553247 Newtok Newtok Newtok C44614 Population Group Nightmute C1553248 Nightmute Nightmute Nightmute C44615 Population Group Nunapitchukv C1553249 Nunapitchukv Nunapitchukv Nunapitchukv C44616 Population Group Oscarville C1553250 Oscarville Oscarville Oscarville C44617 Population Group Pilot Station C1553251 Pilot_Station Pilot Station Pilot Station C44618 Population Group Pitkas Point C1553252 Pitkas_Point Pitkas Point Pitkas Point C44619 Population Group Portage Creek C1553254 Portage_Creek Portage Creek Portage Creek C44620 Population Group Quinhagak C1553255 Quinhagak Quinhagak Quinhagak C44621 Population Group Red Devil C1553256 Red_Devil Red Devil Red Devil C44623 Population Group Scammon Bay C1553258 Scammon_Bay Scammon Bay Scammon Bay C44624 Population Group Sheldon's Point C1553259 Sheldon_s_Point Sheldon's Point Sheldon's Point C44625 Population Group Sleetmute C1553260 Sleetmute Sleetmute Sleetmute C44626 Population Group Stebbins C1553261 Stebbins Stebbins Stebbins C44627 Population Group Togiak C1553262 Togiak Togiak Togiak C44628 Population Group Toksook C1553263 Toksook Toksook Toksook C44629 Population Group Tulukskak C1553264 Tulukskak Tulukskak Tulukskak C44630 Population Group Tuntutuliak C1553265 Tuntutuliak Tuntutuliak Tuntutuliak C44631 Population Group Tununak C1553266 Tununak Tununak Tununak C44632 Population Group Twin Hills C1553267 Twin_Hills Twin Hills Twin Hills C44633 Population Group Georgetown C1553268 Georgetown Georgetown Georgetown C44635 Population Group Umkumiate C1553270 Umkumiate Umkumiate Umkumiate C44636 Population Group Akutan C1553302 Akutan Akutan Akutan C44637 Population Group Aleut Corporation C1553303 Aleut_Corporation Aleut Corporation Aleut Corporation C44638 Population Group Aleutian Islander C1553305 Aleutian_Islander Aleutian Islander Aleutian Islander C44639 Population Group Atka C1553306 Atka Atka Atka C44640 Population Group Belkofski C1553307 Belkofski Belkofski Belkofski C44641 Population Group Chignik Lagoon C1553308 Chignik_Lagoon Chignik Lagoon Chignik Lagoon C44642 Population Group King Cove C1553309 King_Cove King Cove King Cove C44643 Population Group False Pass C1553310 False_Pass False Pass False Pass C44644 Population Group Nelson Lagoon C1553311 Nelson_Lagoon Nelson Lagoon Nelson Lagoon C44645 Population Group Nikolski C1553312 Nikolski Nikolski Nikolski C44646 Population Group Pauloff Harbor C1553313 Pauloff_Harbor Pauloff Harbor Pauloff Harbor C44647 Population Group Qagan Toyagungin C1553314 Qagan_Toyagungin Qagan Toyagungin Qagan Toyagungin C44648 Population Group Qawalangin C1553315 Qawalangin Qawalangin Qawalangin C44651 Population Group Sand Point C1553318 Sand_Point Sand Point Sand Point C44652 Population Group South Naknek C1553319 South_Naknek South Naknek South Naknek C44653 Population Group Unalaska C1553320 Unalaska Unalaska Unalaska C44654 Population Group Unga C1553321 Unga Unga Unga C44655 Population Group Chignik C1553274 Chignik Chignik Chignik C44656 Population Group Chignik Lake C1553275 Chignik_Lake Chignik Lake Chignik Lake C44657 Population Group Egegik C1553276 Egegik Egegik Egegik C44658 Population Group Igiugig C1553277 Igiugig Igiugig Igiugig C44659 Population Group Ivanof Bay C1553278 Ivanof_Bay Ivanof Bay Ivanof Bay C44660 Population Group King Salmon C1553279 King_Salmon King Salmon King Salmon C44661 Population Group Kokhanok C1553280 Kokhanok Kokhanok Kokhanok C44662 Population Group Perryville C1553281 Perryville Perryville Perryville C44663 Population Group Pilot Point C1553282 Pilot_Point Pilot Point Pilot Point C44664 Population Group Port Heiden C1553283 Port_Heiden Port Heiden Port Heiden C44665 Population Group Ambler C1551796 Ambler Ambler Ambler C44666 Population Group Anaktuvuk C1551797 Anaktuvuk Anaktuvuk Anaktuvuk C44667 Population Group Anaktuvuk Pass C1551798 Anaktuvuk_Pass Anaktuvuk Pass Anaktuvuk Pass C44668 Population Group Arctic Slope Inupiat C1551799 Arctic_Slope_Inupiat Arctic Slope Inupiat Arctic Slope Inupiat C44669 Population Group Arctic Slope Corporation C1551800 Arctic_Slope_Corporation Arctic Slope Corporation Arctic Slope Corporation C44670 Population Group Atqasuk C1551801 Atqasuk Atqasuk Atqasuk C44671 Population Group Barrow C1551802 Barrow Barrow Barrow C44672 Population Group Bering Straits Inupiat C1551803 Bering_Straits_Inupiat Bering Straits Inupiat Bering Straits Inupiat C44673 Population Group Brevig Mission C1551804 Brevig_Mission Brevig Mission Brevig Mission C44674 Population Group Buckland C1551805 Buckland Buckland Buckland C44675 Population Group Chinik C1551806 Chinik Chinik Chinik C44676 Population Group Council C1551807 Council Council Council C44677 Population Group Deering C1551808 Deering Deering Deering C44678 Population Group Elim C1551809 Elim Elim Elim C44679 Population Group Golovin C1551810 Golovin Golovin Golovin C44680 Population Group Inalik Diamede C1551811 Inalik_Diamede Inalik Diamede Inalik Diomede Inalik Diamede C44681 Population Group Inupiaq C1551812 Inupiaq Inupiaq Inupiaq C44682 Population Group Kaktovik C1551813 Kaktovik Kaktovik Kaktovik C44683 Population Group Kawerak C1551814 Kawerak Kawerak Kawerak C44684 Population Group Kiana C1551815 Kiana Kiana Kiana C44685 Population Group Kivalina C1551816 Kivalina Kivalina Kivalina C44686 Population Group Kobuk C1551817 Kobuk Kobuk Kobuk C44687 Population Group Kotzebue C1551818 Kotzebue Kotzebue Kotzebue C44688 Population Group Koyuk C1551819 Koyuk Koyuk Koyuk C44689 Population Group Kwiguk C1551820 Kwiguk Kwiguk Kwiguk C44690 Population Group Mauneluk Inupiat C1551821 Mauneluk_Inupiat Mauneluk Inupiat Mauneluk Inupiat C44691 Population Group Nana Inupiat C1551822 Nana_Inupiat Nana Inupiat Nana Iñupiat Nana Inupiat C44692 Population Group Noatak C1551823 Noatak Noatak Noatak C44693 Population Group Nome C1551824 Nome Nome Nome C44694 Population Group Noorvik C1551825 Noorvik Noorvik Noorvik C44695 Population Group Nuiqsut C1551826 Nuiqsut Nuiqsut Nuiqsut C44696 Population Group Point Hope C1551827 Point_Hope Point Hope Point Hope C44697 Population Group Point Lay C1551828 Point_Lay Point Lay Point Lay C44698 Population Group Selawik C1551829 Selawik Selawik Selawik C44699 Population Group Shaktoolik C1551830 Shaktoolik Shaktoolik Shaktoolik C44700 Population Group Shishmaref C1551831 Shishmaref Shishmaref Shishmaref C44701 Population Group Shungnak C1551832 Shungnak Shungnak Shungnak C44702 Population Group Solomon C1551833 Solomon Solomon Solomon C44703 Population Group Teller C1551834 Teller Teller Teller C44704 Population Group Unalakleet C1551835 Unalakleet Unalakleet Unalakleet C44705 Population Group Wainwright C1551836 Wainwright Wainwright Wainwright C44706 Population Group Wales C1551837 Wales Wales Wales C44707 Population Group White Mountain C1551838 White_Mountain White Mountain White Mountain C44708 Population Group White Mountain Inupiat C1551839 White_Mountain_Inupiat White Mountain Inupiat White Mountain Inupiat C44709 Population Group Mary's Igloo C1551840 Mary_s_Igloo Mary's Igloo Mary's Igloo C44710 Population Group Angoon C1551772 Angoon Angoon Angoon C44711 Population Group Central Council of Tlingit and Haida Tribes C1551773 Central_Council_of_Tlingit_and_Haida_Tribes Central Council of Tlingit and Haida Tribes Central Council of Tlingit and Haida Tribes C44712 Population Group Chilkat C1551774 Chilkat Chilkat Chilkat C44713 Population Group Chilkoot C1551775 Chilkoot Chilkoot Chilkoot C44714 Population Group Craig C1551776 Craig Craig Craig C44715 Population Group Douglas C1551777 Douglas Douglas Douglas C44716 Population Group Haida C0682117 Haida Haida Haida C44717 Population Group Hoonah C1551778 Hoonah Hoonah Hoonah C44718 Population Group Hydaburg C1551779 Hydaburg Hydaburg Hydaburg C44719 Population Group Kake C1551780 Kake Kake Kake C44720 Population Group Kasaan C1551781 Kasaan Kasaan Kasaan C44721 Population Group Kenaitze C1551782 Kenaitze Kenaitze Kenaitze C44722 Population Group Ketchikan C1551783 Ketchikan Ketchikan Ketchikan C44723 Population Group Klawock C1551784 Klawock Klawock Klawock C44724 Population Group Pelican C1551785 Pelican Pelican Pelican C44725 Population Group Petersburg C1551786 Petersburg Petersburg Petersburg C44726 Population Group Saxman C1551787 Saxman Saxman Saxman C44727 Population Group Sitka C1551788 Sitka Sitka Sitka C44728 Population Group Tenakee Springs C1551789 Tenakee_Springs Tenakee Springs Tenakee Springs C44729 Population Group Tlingit C0682118 Tlingit Tlingit Tlingit C44730 Population Group Wrangell C1551790 Wrangell Wrangell Wrangell C44731 Population Group Yakutat C1551791 Yakutat Yakutat Yakutat C44732 Population Group Ahtna C1551700 Ahtna Ahtna Ahtna C44733 Population Group Alatna CL334372 Alatna Alatna Alatna C44734 Population Group Alexander C1551702 Alexander Alexander Alexander C44735 Population Group Allakaket C1551703 Allakaket Allakaket Allakaket C44736 Population Group Alanvik C1551704 Alanvik Alanvik Alanvik C44737 Population Group Anvik C1551705 Anvik Anvik Anvik C44738 Population Group Arctic CL337306 Arctic Arctic Arctic C44739 Population Group Beaver C1551707 Beaver Beaver Beaver C44740 Population Group Birch Creek C1551708 Birch_Creek Birch Creek Birch Creek C44741 Population Group Cantwell C1551709 Cantwell Cantwell Cantwell C44742 Population Group Chalkyitsik C1551710 Chalkyitsik Chalkyitsik Chalkyitsik C44743 Population Group Chickaloon C1551711 Chickaloon Chickaloon Chickaloon C44744 Population Group Chistochina C1551712 Chistochina Chistochina Chistochina C44745 Population Group Chitina C1551713 Chitina Chitina Chitina C44746 Population Group Circle Tribe C1551714 Circle_Tribe Circle Circle Tribe Circle Tribe C44747 Population Group Cook Inlet C1551715 Cook_Inlet Cook Inlet Cook Inlet C44748 Population Group Copper Center C1551716 Copper_Center Copper Center Copper Center C44749 Population Group Copper River C1551717 Copper_River Copper River Copper River C44750 Population Group Dot Lake C1551718 Dot_Lake Dot Lake Dot Lake C44751 Population Group Doyon C1551719 Doyon Doyon Doyon C44752 Population Group Eagle C1551720 Eagle Eagle Eagle C44753 Population Group Eklutna C1551721 Eklutna Eklutna Eklutna C44754 Population Group Evansville C1551722 Evansville Evansville Evansville C44755 Population Group Fort Yukon C1551723 Fort_Yukon Fort Yukon Fort Yukon C44756 Population Group Gakona C1551724 Gakona Gakona Gakona C44757 Population Group Galena C1551725 Galena Galena Galena C44758 Population Group Grayling C1551726 Grayling Grayling Grayling C44759 Population Group Gulkana C1551727 Gulkana Gulkana Gulkana C44760 Population Group Healy Lake C1551728 Healy_Lake Healy Lake Healy Lake C44761 Population Group Holy Cross C1551729 Holy_Cross Holy Cross Holy Cross C44762 Population Group Hughes C1551730 Hughes Hughes Hughes C44763 Population Group Huslia C1551731 Huslia Huslia Huslia C44764 Population Group Iliamna C1551732 Iliamna Iliamna Iliamna C44765 Population Group Kaltag C1551733 Kaltag Kaltag Kaltag C44766 Population Group Kluti Kaah C1551734 Kluti_Kaah Kluti Kaah Kluti Kaah C44767 Population Group Knik C1551735 Knik Knik Knik C44768 Population Group Koyukuk C1551736 Koyukuk Koyukuk Koyukuk C44769 Population Group Lake Minchumina C1551737 Lake_Minchumina Lake Minchumina Lake Minchumina C44770 Population Group Lime C1551738 Lime Lime Lime C44771 Population Group Mcgrath C1551739 Mcgrath Mcgrath Mcgrath C44772 Population Group Manley Hot Springs C1551740 Manley_Hot_Springs Manley Hot Springs Manley Hot Springs C44773 Population Group Mentasta Lake C1551741 Mentasta_Lake Mentasta Lake Mentasta Lake C44774 Population Group Minto CL334407 Minto Minto Minto C44775 Population Group Nenana C1551743 Nenana Nenana Nenana C44776 Population Group Nikolai C1551744 Nikolai Nikolai Nikolai C44777 Population Group Ninilchik C1551745 Ninilchik Ninilchik Ninilchik C44778 Population Group Nondalton C1551746 Nondalton Nondalton Nondalton C44779 Population Group Northway C1551747 Northway Northway Northway C44780 Population Group Nulato C1551748 Nulato Nulato Nulato C44781 Population Group Pedro Bay C1551749 Pedro_Bay Pedro Bay Pedro Bay C44782 Population Group Rampart C1551750 Rampart Rampart Rampart C44783 Population Group Ruby C1551751 Ruby Ruby Ruby C44784 Population Group Salamatof CL334417 Salamatof Salamatof Salamatof C44785 Population Group Seldovia C1551753 Seldovia Seldovia Seldovia C44786 Population Group Slana C1551754 Slana Slana Slana C44787 Population Group Shageluk C1551755 Shageluk Shageluk Shageluk C44788 Population Group Stevens CL334421 Stevens Stevens Stevens C44789 Population Group Stony River C1551757 Stony_River Stony River Stony River C44790 Population Group Takotna C1551758 Takotna Takotna Takotna C44791 Population Group Tanacross C1551759 Tanacross Tanacross Tanacross C44792 Population Group Tanaina C1551760 Tanaina Tanaina Tanaina C44793 Population Group Tanana C1551761 Tanana Tanana Tanana C44794 Population Group Tanana Chiefs C1551762 Tanana_Chiefs Tanana Chiefs Tanana Chiefs C44795 Population Group Tazlina CL334428 Tazlina Tazlina Tazlina C44796 Population Group Telida C1551764 Telida Telida Telida C44797 Population Group Tetlin C1551765 Tetlin Tetlin Tetlin C44798 Population Group Tok C1551766 Tok Tok Tok C44799 Population Group Tyonek C1551767 Tyonek Tyonek Tyonek C44800 Population Group Venetie C1551768 Venetie Venetie Venetie C44801 Population Group Wiseman C1551769 Wiseman Wiseman Wiseman C44802 Population Group Duwamish C1551540 Duwamish Duwamish Duwamish C44803 Population Group Kikiallus C1551541 Kikiallus Kikiallus Kikiallus C44804 Population Group Lower Skagit C1551542 Lower_Skagit Lower Skagit Lower Skagit C44805 Population Group Muckleshoot C1551543 Muckleshoot Muckleshoot Muckleshoot C44806 Population Group Nisqually C1551544 Nisqually Nisqually Nisqually C44807 Population Group Nooksack C1551545 Nooksack Nooksack Nooksack C44808 Population Group Port Madison C1551546 Port_Madison Port Madison Port Madison C44809 Population Group Puyallup C1551547 Puyallup Puyallup Puyallup C44810 Population Group Samish C1551548 Samish Samish Samish C44811 Population Group Sauk-Suiattle C1551549 Sauk-Suiattle Sauk-Suiattle Sauk-Suiattle C44812 Population Group Skokomish C1551550 Skokomish Skokomish Skokomish C44813 Population Group Skykomish C1551551 Skykomish Skykomish Skykomish C44814 Population Group Snohomish C1551552 Snohomish Snohomish Snohomish C44815 Population Group Snoqualmie C1551553 Snoqualmie Snoqualmie Snoqualmie C44816 Population Group Squaxin Island C1551554 Squaxin_Island Squaxin Island Squaxin Island C44817 Population Group Steilacoom C1551555 Steilacoom Steilacoom Steilacoom C44818 Population Group Stillaguamish C1551556 Stillaguamish Stillaguamish Stillaguamish C44819 Population Group Suquamish C1551557 Suquamish Suquamish Suquamish C44820 Population Group Swinomish C1551558 Swinomish Swinomish Swinomish C44821 Population Group Tulalip C1551559 Tulalip Tulalip Tulalip C44822 Population Group Upper Skagit C1551560 Upper_Skagit Upper Skagit Upper Skagit C44823 Population Group Acoma C1551514 Acoma Acoma Acoma C44824 Population Group Arizona Tewa C1551515 Arizona_Tewa Arizona Tewa Arizona Tewa C44825 Population Group Cochiti C1551516 Cochiti Cochiti Cochiti C44826 Population Group Hopi C0682111 Hopi Hopi Hopi C44827 Population Group Isleta C1551517 Isleta Isleta Isleta C44828 Population Group Jemez C1551518 Jemez Jemez Jemez C44829 Population Group Keres C1551519 Keres Keres Keres C44830 Population Group Laguna C1551520 Laguna Laguna Laguna C44831 Population Group Nambe C1551521 Nambe Nambe Nambe C44832 Population Group Picuris C1551522 Picuris Picuris Picuris C44833 Population Group Piro C1551523 Piro Piro Piro C44834 Population Group Pojoaque C1551524 Pojoaque Pojoaque Pojoaque C44835 Population Group San Felipe C1551525 San_Felipe San Felipe San Felipe C44836 Population Group San Ildefonso C1551526 San_Ildefonso San Ildefonso San Ildefonso C44837 Population Group San Juan Pueblo C1551527 San_Juan_Pueblo San Juan Pueblo San Juan Pueblo C44838 Population Group San Juan De C1551528 San_Juan_De San Juan De San Juan De C44839 Population Group San Juan C1551529 San_Juan San Juan San Juan C44840 Population Group Sandia C1551530 Sandia Sandia Sandia C44841 Population Group Santa Ana C1551531 Santa_Ana Santa Ana Santa Ana C44842 Population Group Santa Clara C1551532 Santa_Clara Santa Clara Santa Clara C44843 Population Group Santo Domingo C1551533 Santo_Domingo Santo Domingo Santo Domingo C44844 Population Group Taos C1551534 Taos Taos Taos C44845 Population Group Tesuque C1551535 Tesuque Tesuque Tesuque C44846 Population Group Tewa C1551536 Tewa Tewa Tewa C44847 Population Group Tigua C1551537 Tigua Tigua Tigua C44848 Population Group Zia C1551538 Zia Zia Zia C44849 Population Group Zuni C0682110 Zuni Zuni Zuñi Zuni C44850 Population Group Citzen Band Potawatomi C1551506 Citzen_Band_Potawatomi Citizen Band Potawatomi Citzen Band Potawatomi Citzen Band Potawatomi C44851 Population Group Forest County C1551507 Forest_County Forest County Forest County C44852 Population Group Hannahville C1551508 Hannahville Hannahville Hannahville C44853 Population Group Huron Potawatomi C1551509 Huron_Potawatomi Huron Potawatomi Huron Potawatomi C44854 Population Group Pokagon Potawatomi C1551510 Pokagon_Potawatomi Pokagon Potawatomi Pokagon Potawatomi C44855 Population Group Prairie Band C1551511 Prairie_Band Prairie Band Prairie Band C44856 Population Group Wisconsin Potawatomi C1551512 Wisconsin_Potawatomi Wisconsin Potawatomi Wisconsin Potawatomi C44857 Population Group Central Pomo C1551494 Central_Pomo Central Pomo Central Pomo C44858 Population Group Dry Creek C1551495 Dry_Creek Dry Creek Dry Creek C44859 Population Group Eastern Pomo C1551496 Eastern_Pomo Eastern Pomo Eastern Pomo C44860 Population Group Kashia C1551497 Kashia Kashia Kashia C44861 Population Group Northern Pomo C1551498 Northern_Pomo Northern Pomo Northern Pomo C44862 Population Group Scotts Valley C1551499 Scotts_Valley Scotts Valley Scotts Valley C44863 Population Group Stonyford C1551500 Stonyford Stonyford Stonyford C44864 Population Group Sulphur Bank C1551501 Sulphur_Bank Sulphur Bank Sulphur Bank C44865 Population Group Cayuga C1555234 Cayuga Cayuga Cayuga C44866 Population Group Mohawk C0682099 Mohawk Mohawk Mohawk C44867 Population Group Oneida C1555235 Oneida Oneida Oneida C44868 Population Group Onondaga C1555236 Onondaga Onondaga Onondaga C44869 Population Group Seneca C1555237 Seneca Seneca Seneca C44870 Population Group Seneca Nation C1555238 Seneca_Nation Seneca Nation Seneca Nation C44871 Population Group Seneca-Cayuga C1555239 Seneca-Cayuga Seneca-Cayuga Seneca-Cayuga C44872 Population Group Tonawanda Seneca C1555240 Tonawanda_Seneca Tonawanda Seneca Tonawanda Seneca C44873 Population Group Tuscarora C1555241 Tuscarora Tuscarora Tuscarora C44874 Population Group Wyandotte C1555242 Wyandotte Wyandotte Wyandotte C44875 Population Group Attacapa C1555199 Attacapa Attacapa Attacapa C44876 Population Group Biloxi C1555200 Biloxi Biloxi Biloxi C44877 Population Group Moor C1555202 Moor Moor Moor C44878 Population Group Nansemond C1555203 Nansemond Nansemond Nansemond C44879 Population Group Natchez C1555204 Natchez Natchez Natchez C44880 Population Group Nausu Waiwash C1555205 Nausu_Waiwash Nausu Waiwash Nausu Waiwash C44881 Population Group Nipmuc C1555206 Nipmuc Nipmuc Nipmuc C44882 Population Group Paugussett C1555207 Paugussett Paugussett Paugussett C44883 Population Group Pocomoke Acohonock C1555208 Pocomoke_Acohonock Pocomoke Acohonock Pocomoke Acohonock C44884 Population Group Southeastern Indians C1555209 Southeastern_Indians Southeastern Indians Southeastern Indians C44885 Population Group Susquehanock C1555210 Susquehanock Susquehanock Susquehanock C44886 Population Group Tunica Biloxi C1555211 Tunica_Biloxi Tunica Biloxi Tunica Biloxi C44887 Population Group Waccamaw Siousan C1555212 Waccamaw_Siousan Waccamaw Siousan Waccamaw Siousan C44888 Population Group Wicomico C1555213 Wicomico Wicomico Wicomico C44889 Population Group Eastern Delaware C1555183 Eastern_Delaware Eastern Delaware Eastern Delaware C44890 Population Group Lenni Lenape C1555184 Lenni_Lenape Lenni Lenape Lenni Lenape C44891 Population Group Munsee C1555185 Munsee Munsee Munsee C44892 Population Group Oklahoma Delaware C1555186 Oklahoma_Delaware Oklahoma Delaware Oklahoma Delaware C44893 Population Group Rampough Mountain C1555187 Rampough_Mountain Rampough Mountain Rampough Mountain C44894 Population Group Sand Hill C1555188 Sand_Hill Sand Hill Sand Hill C44895 Population Group Alabama Creek C1555166 Alabama_Creek Alabama Creek Alabama Creek C44896 Population Group Alabama Quassarte C1555167 Alabama_Quassarte Alabama Quassarte Alabama Quassarte C44897 Population Group Eastern Creek C1555168 Eastern_Creek Eastern Creek Eastern Creek C44898 Population Group Eastern Muscogee C1555169 Eastern_Muscogee Eastern Muscogee Eastern Muscogee C44899 Population Group Kialegee C1555170 Kialegee Kialegee Kialegee C44900 Population Group Lower Muscogee C1555171 Lower_Muscogee Lower Muscogee Lower Muscogee C44901 Population Group Machis Lower Creek Indian C1555172 Machis_Lower_Creek_Indian Machis Lower Creek Indian Machis Lower Creek Indian C44902 Population Group Poarch Band C1555173 Poarch_Band Poarch Band Poarch Band C44903 Population Group Principal Creek Indian Nation C1555174 Principal_Creek_Indian_Nation Principal Creek Indian Nation Principal Creek Indian Nation C44904 Population Group Star Clan of Muscogee Creeks C1555175 Star_Clan_of_Muscogee_Creeks Star Clan of Muscogee Creeks Star Clan of Muscogee Creeks C44905 Population Group Thlopthlocco C1555176 Thlopthlocco Thlopthlocco Thlopthlocco C44906 Population Group Tuckabachee C1555177 Tuckabachee Tuckabachee Tuckabachee C44907 Population Group Bad River C1555119 Bad_River Bad River Bad River C44908 Population Group Bay Mills Chippewa C1555120 Bay_Mills_Chippewa Bay Mills Chippewa Bay Mills Chippewa C44909 Population Group Bois Forte C1555121 Bois_Forte Bois Forte Bois Forte C44910 Population Group Burt Lake Chippewa C1555122 Burt_Lake_Chippewa Burt Lake Chippewa Burt Lake Chippewa C44911 Population Group Fond du Lac C1555123 Fond_du_Lac Fond du Lac Fond du Lac C44912 Population Group Grand Portage C1555124 Grand_Portage Grand Portage Grand Portage C44913 Population Group Grand Traverse Band of Ottawa Chippewa C1555125 Grand_Traverse_Band_of_Ottawa_Chippewa Grand Traverse Band of Ottawa Chippewa Grand Traverse Band of Ottawa Chippewa C44914 Population Group Keweenaw C1555126 Keweenaw Keweenaw Keweenaw C44915 Population Group Lac Courte Oreilles C1555127 Lac_Courte_Oreilles Lac Courte Oreilles Lac Courte Oreilles C44916 Population Group Lac du Flambeau C1555128 Lac_du_Flambeau Lac du Flambeau Lac du Flambeau C44917 Population Group Lac Vieux Desert Chippewa C1555129 Lac_Vieux_Desert_Chippewa Lac Vieux Desert Chippewa Lac Vieux Desert Chippewa C44918 Population Group Lake Superior C1555130 Lake_Superior Lake Superior Lake Superior C44919 Population Group Leech Lake C1555131 Leech_Lake Leech Lake Leech Lake C44920 Population Group Little Shell Chippewa C1555132 Little_Shell_Chippewa Little Shell Chippewa Little Shell Chippewa C44921 Population Group Mille Lacs C1555133 Mille_Lacs Mille Lacs Mille Lacs C44922 Population Group Minnesota Chippewa C1555134 Minnesota_Chippewa Minnesota Chippewa Minnesota Chippewa C44923 Population Group Ontonagon C1555135 Ontonagon Ontonagon Ontonagon C44924 Population Group Red Cliff Chippewa C1555136 Red_Cliff_Chippewa Red Cliff Chippewa Red Cliff Chippewa C44925 Population Group Red Lake Chippewa C1555137 Red_Lake_Chippewa Red Lake Chippewa Red Lake Chippewa C44926 Population Group Saginaw Chippewa C1555138 Saginaw_Chippewa Saginaw Chippewa Saginaw Chippewa C44929 Population Group Sokoagon Chippewa C1555141 Sokoagon_Chippewa Sokoagon Chippewa Sokoagon Chippewa C44930 Population Group Turtle Mountain C1555142 Turtle_Mountain Turtle Mountain Turtle Mountain C44931 Population Group White Earth C1555143 White_Earth White Earth White Earth C44932 Population Group Clatsop C1555112 Clatsop Clatsop Clatsop C44934 Population Group Kathlamet C1555114 Kathlamet Kathlamet Kathlamet C44935 Population Group Upper Chinook C1555115 Upper_Chinook Upper Chinook Upper Chinook C44936 Population Group Wakiakum Chinook C1555116 Wakiakum_Chinook Wakiakum Chinook Wakiakum Chinook C44937 Population Group Willapa Chinook C1555117 Willapa_Chinook Willapa Chinook Willapa Chinook C44938 Population Group Wishram C1555118 Wishram Wishram Wishram C44939 Population Group Cherokee Alabama C1555094 Cherokee_Alabama Cherokee Alabama Cherokee Alabama C44940 Population Group Cherokees of Northeast Alabama C1555095 Cherokees_of_Northeast_Alabama Cherokees of Northeast Alabama Cherokees of Northeast Alabama C44941 Population Group Cherokees of Southeast Alabama C1555096 Cherokees_of_Southeast_Alabama Cherokees of Southeast Alabama Cherokees of Southeast Alabama C44942 Population Group Eastern Cherokee C1555097 Eastern_Cherokee Eastern Cherokee Eastern Cherokee C44943 Population Group Echota Cherokee C1555098 Echota_Cherokee Echota Cherokee Echota Cherokee C44944 Population Group Etowah Cherokee C1555099 Etowah_Cherokee Etowah Cherokee Etowah Cherokee C44946 Population Group Tuscola C1555101 Tuscola Tuscola Tuscola C44947 Population Group United Keetowah Band of Cherokee C1555102 United_Keetowah_Band_of_Cherokee United Keetowah Band of Cherokee United Keetowah Band of Cherokee C44948 Population Group Western Cherokee C1555103 Western_Cherokee Western Cherokee Western Cherokee C44949 Population Group Canadian Indian C1555084 Canadian_Indian Canadian Indian Canadian Indian C44950 Population Group Central American Indian C0021207 The native people of Central America. Central_American_Indian CENTRAL AMERICAN INDIAN Central American Indian Central American Indian C44951 Population Group French American Indian C1555085 French_American_Indian French American Indian French American Indian C44952 Population Group Mexican American Indian C1555086 Mexican_American_Indian Mexican American Indian Mexican American Indian C44953 Population Group South American Indian C1610165 The native people of South America. South_American_Indian SOUTH AMERICAN INDIAN South American Indian South American Indian C44954 Population Group Spanish American Indian C1555087 Spanish_American_Indian Spanish American Indian Spanish American Indian C45170 Population Group Aleut C0085766 Aleut Aleut Aleut C45218 Population Group Columbia River Chinook C1555113 Columbia_River_Chinook Columbia River Chinook Columbia River Chinook C45220 Population Group Northern Cherokee C1555100 Northern_Cherokee Northern Cherokee Northern Cherokee C45221 Population Group Platinum Eskimo C1553253 Platinum_Eskimo Platinum Platinum Eskimo Platinum Eskimo C45222 Population Group Deleware Indian C1707669 Deleware_Indian Deleware Deleware Indian Deleware Indian C45223 Population Group Sault Ste. Marie Chippewa C1555140 Sault_Ste_Marie_Chippewa Sault Ste. Marie Chippewa Sault Ste. Marie Chippewa C45224 Population Group St. Croix Chippewa C1555139 St_Croix_Chippewa St. Croix Chippewa St. Croix Chippewa C45225 Population Group St. George C1553316 St_George St. George St. George C45226 Population Group St. Paul C1553317 St_Paul St. Paul St. Paul C45227 Population Group St. Mary's C1553269 St_Marys St. Mary's St. Mary's C45228 Population Group St. Michael C1553257 St_Michael St. Michael St. Michael C45229 Population Group Yavapai C1551696 Yavapai Yavapai Yavapai The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure. C49679 Quantitative Concept Mean Arterial Pressure C0428886 CDISC NCPDP The mean pressure of the blood within the arterial circulation. The arterial pressure may be directly measured by insertion of an intra-arterial catheter connected to a transducer. The mean arterial pressure (MAP) can be calculated by subsequent analysis of the waveform. MAP can be approximated without an invasive procedure using the following formula: diastolic pressure plus 1/3 of the pulse pressure, where pulse pressure is systolic pressure - diastolic pressure. (NCI) Mean_Arterial_Pressure MAP Mean Arterial Pressure Mean Arterial Pressure The pressure of the circulating blood against the walls of the blood vessels. C54706 Clinical Attribute Blood Pressure C0005823 NICHD The force of circulating blood on the walls of the arteries. Blood pressure is taken using two measurements: systolic (measured when the heart beats, when blood pressure is at its highest) and diastolic (measured between heart beats, when blood pressure is at its lowest). Blood pressure is written with the systolic blood pressure first, followed by the diastolic blood pressure (for example 120/80). Blood_Pressure Blood Pressure BP Blood Pressure blood pressure Blood Pressure A person who was not smoking at the time of the interview and has smoked less than 100 cigarettes in their life. C65108 Organism Attribute Never Smoker Never Smoker C0425293 CTRP Never_Smoker Never Smoked Never Smoker Non-Smoker Never Smoker Having ancestors of several or various races. C67109 Population Group Multiracial C1881928 Multiracial Multiracial Multiracial A person living in the United States of Mexican, Puerto Rican, Cuban, Central or South American, or other Spanish culture or origin. The concept does not include Brazilian Americans or Portuguese Americans. C67111 Population Group Multiple Hispanic C1881927 Multiple_Hispanic Multiple Hispanic Multiple Hispanic A person of Puerto Rican culture or origin, regardless of race. C67112 Population Group Puerto Rican C0034043 FDA A person of Puerto Rican descent. Puerto_Rican PUERTO RICAN Puerto Rican Puertorican Puerto Rican Denotes a person from or of Mexico. C67113 Population Group Mexican C0240339 A person of Mexican descent. Mexican MEXICAN Mexican Mexican Denotes an american citizen of Mexican descent. C67114 Population Group Mexican American C0025884 A person of Mexican and American descent. Mexican_American MEXICAN AMERICAN Mexican American Mexican American Denotes a person from or of Cuba or an American citizen of Cuban descent. C67115 Population Group Cuban or Cuban American C0010436 A person of Cuban and American descent. Cuban_or_Cuban_American CUBAN AMERICAN Cuban or Cuban American Cuban or Cuban American Denotes the inhabitants of the Dominican Republic, a person from there, or their descendants elsewhere. C67117 Population Group Dominican CL388698 A person having origins in any of the original peoples of the Dominican Republic. Dominican_Republican DOMINICAN Dominican Dominican Denotes a person from the area between north and south America including persons from Belize, Costa Rica, El Salvador, Guatemala, Honduras, Nicaragua, Panama, and the Panama Canal zone. C67118 Population Group Central American C0238914 A person of Central American descent. Cental_American CENTRAL AMERICAN Central American Central American Denotes a person from Spain or of Spanish descent. C67120 Population Group Spanish C3161473 A person from Spain or of Spanish descent. Spanish SPANISH Spanish Spanish Indicates a person who has smoked at least 100 cigarettes in his or her lifetime and who currently smokes every day. C67145 Organism Attribute Current Every Day Smoker C3266136 Current_Every_Day_Smoker Current Every Day Smoker Daily Smoker Every Day Smoker Current Every Day Smoker Indicates a person who has smoked at least 100 cigarettes in his or her lifetime, who smokes now, but does not smoke every day. C67146 Organism Attribute Current Some Day Smoker C1880200 Current_Some_Day_Smoker Chipper Current Some Day Smoker Non-Daily Smoker Occasional Smoker Some Day Smoker Current Some Day Smoker An adult who has smoked 100 cigarettes in his or her lifetime and who currently smokes cigarettes. Includes daily smokers and non-daily smokers (also known as occasional smokers). C67147 Organism Attribute Current Smoker Current Smoker C3241966 CTRP Current_Smoker Current Smoker Smoker Current Smoker A person who was not smoking at the time of the interview but has smoked at least 100 cigarettes in their life. C67148 Organism Attribute Former Smoker Former Smoker C0337671 CTRP Former_Smoker Former Smoker Prior Smoker Former Smoker Indicates a person who is known to have smoked but whose current smoking status is unknown. C67150 Organism Attribute Smoker, Current Status Unknown C1883049 Smoker_Current_Status_Unknown Smoker, Current Status Unknown Smoker, Current Status Unknown Indicates that a person's smoking status is unknown. C67151 Organism Attribute Unknown If Ever Smoked C1883465 Unknown_If_Ever_Smoked Unknown If Ever Smoked Unknown If Ever Smoked Denotes the inhabitants of the Bahamas, a person from there, or their descendants elsewhere. C67271 Population Group Bahamian C1553336 A person having origins in any of the original peoples of the Bahamas. Bahamian BAHAMIAN Bahamian Bahamian A person who inhales or has inhaled combustible products of organic material during their lifetime. C68751 Organism Attribute Smoker C0337664 Smoker Smoker Smoker The age of a person at the start of a specific event. C69217 Organism Attribute Age Started C2348002 The age of a patient on the first occurrence of an event, such as the first use of a medication. Age_Started Age Started Age Started The age of a person who is the subject in a study. C69260 Organism Attribute Subject Age C2348575 Age of patient who is the subject of observations. Subject_Age Subject Age Subject Age A demographic parameter indicating the amount of earnings made by a family. C70811 Quantitative Concept Household Income C0557163 Household_Income Household Income Household Income The first weight of a newborn obtained after birth. C76325 Quantitative Concept Birth Weight C0005612 NICHD A measured weight of a newborn obtained immediately or shortly after birth. Birth_Weight_New Birth Weight Birth Weight Birth Weight (NCIT) Denotes a person having origins in one of the indigenous people of South or Central America such as Mayans or Incas. C77809 Population Group South or Central American Indian C2699496 South_or_Central_American_Indian South or Central American Indian South or Central American Indian Denotes a person having origins in one of the indigenous people of the Caribbean. C77810 Population Group Caribbean Indian C2698999 The native people of the Caribbean. Caribbean_Indian CARIBBEAN INDIAN Caribbean Indian Caribbean Indian Denotes a person having origins in any of the countries abutting the Mediterranean Sea, principally those of Europe. C77811 Population Group Mediterranean C0240321 A person having origins in any of the original peoples of the countries surrounding the Mediterranean sea. Mediterranean MEDITERRANEAN Mediterranean Mediterranean Denotes a person of European, Middle Eastern, or North African ancestral origins whose family settled in a North American country such as the United States of America or Canada. C77812 Population Group North American C0425358 North_American North American North American Denotes a person having origins in a northern country of Africa such as Egypt, Sudan, Libya, Algeria, Morocco, or Tunisia. C77813 Population Group North Coast of Africa C2698500 A person having origins in any of the original peoples of North Africa. North_Coast_of_Africa_Origin NORTH AFRICAN North Coast of Africa North Coast of Africa Origin North Coast of Africa Denotes a person having origins in any of the countries of northern Europe such as Belgium, Denmark, Austria, Switzerland, Norway, Sweden, or Great Britain. C77814 Population Group Northern European C0239310 A person having origins in any of the original peoples of Northern Europe. Northern_European NORTHERN EUROPEAN Northern European Northern European Denotes a person having origins in any of the black racial groups of Africa whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. C77815 Population Group Black South or Central American C2698522 Black_South_or_Central_American Black South or Central American Black South or Central American Denotes a person with European, Middle Eastern, or North African ancestral origin whose family settled in the Caribbean region. C77816 Population Group White Caribbean C2700273 A person having origins in the original peoples of Europe, the Middle East, or North Africa, and the Caribbean. White_Caribbean WHITE CARIBBEAN White Caribbean White Caribbean Denotes a person having origins in any of the countries of Western Europe such as Spain, Portugal, or France. C77817 Population Group Western European C0239312 A person having origins in any of the original peoples of Western Europe. Western_European WESTERN EUROPEAN Western European Western European Denotes a person of European ancestral origins whose family settled in a South or Central American country such as Argentina, Brazil, or Mexico. C77818 Population Group White South or Central American C2700274 White_South_or_Central_American White South or Central American White South or Central American Denotes a person having origins in any of the countries of Eastern Europe such as Czechoslovakia, Poland, Croatia, Hungary, Slovenia, Former Soviet Union, or Finland. It also includes persons who call themselves Gypsies from this region. C77819 Population Group Eastern European C0239309 A person having origins in any of the original peoples of Eastern Europe. Eastern_European EASTERN EUROPEAN Eastern European Eastern European Denotes a person having origins in the region of southwest Asia, between the India subcontinent and Europe, including Kuwait, Turkey, Lebanon, Israel, Iraq, Iran, Jordan, Saudi Arabia, lands east of Pakistan or the other countries of the Arabian Peninsula. Also includes people of Jewish ethnicity including Sephardic and Ashkenazic. C77820 Population Group Middle Eastern C2698217 A person having origins in any of the original peoples of the Middle East. Middle_Eastern MIDDLE EASTERN Middle Eastern Middle Eastern The weight of a subject. C81328 Conceptual Entity Body Weight C0005910 CDISC NCPDP NICHD The weight of a subject. (NCI) Weight_of_Body Body Weight BW Body Weight Body Weight A person's total income before taxes, exclusions, and deductions. C85406 Group Attribute Gross Income C2827632 Gross Income Gross Income A general term for a group of culturally similar indigenous peoples inhabiting the Arctic regions of Canada, Greenland, Russia and the United States. In Alaska, the term Eskimo is commonly used, because it includes both Yupik and Inupiat, while Inuit is not accepted as a collective term. In Canada and Greenland, the term Eskimo has fallen out of favor, as it is considered pejorative by the natives and has been replaced by the term Inuit. C86558 Population Group Inuit C0086484 Inuit Inuit The systolic and diastolic blood pressure of the newborn upon examination; the normal range of the systolic blood pressure is 60 - 90, while the normal range of the diastolic blood pressure is 20-60. C87105 Clinical Attribute Newborn Blood Pressure C2828171 NICHD Newborn Blood Pressure Newborn Blood Pressure Newborn Blood Pressure The weight of a subject at a specified end point. C90464 Quantitative Concept Terminal Body Weight C2983672 CDISC The weight of a subject at a specified end point. (NCI) TERMBW Terminal Body Weight Terminal Body Weight The height of a person while standing. C94488 Conceptual Entity Stature C0424639 The height of a person while standing. Stature stature Stature standing height a pathological bodily process that occurs after a medical intervention. An adverse event is likely caused by the medical intervention; however, such a causal association is not required to be an adverse event. Melanie Courtot and YH: More work is needed on how to restrict the scope of a term to be an 'adverse event', notably regarding temporal association. When is an appropirate time interval between a medical intervention and an adverse event observed? One week, one month, one year, or a lifetime? For some well-studied medical interventions (e.g., administration of many vaccines or drugs), we probably have a general idea. For many new interventions, we don't know much. In OAE, this issue is associated with defining the 'adverse event incubation time'. YH: An adverse event is a process that has specified output of some adverse medical outcome (e.g., symptom, sign or accident) after a medical intervention (or process) (e.g., administration of drug or vaccine). The medical intervention can be an administration of a drug, a vaccine (i.e., vaccination), or a special nutritional product (for example, dietary supplement, infant formula, medical food), surgery, or usage of a medical device. YH: An adverse event is possibly induced by the medical intervention. It can be caused by the medical intervention, or may not be caused by the medical intervention. One ultimate goal (or the goal in clinics) of study adverse events is to assess if the adverse event outcome is due to the medical intervention. YH: In development of OAE, we initially use vaccine adverse event as our use case. A vaccine adverse event is associated with a vaccination (i.e. a medical intervention), regardless of whether it is considered vaccine-related, and includes any side effect, injury, toxicity, or sensitivity reaction or significant failure of immunization (i.e., a pharmacologic action). Ref: Baylor NW and Midthum K. Regulation and testing of vaccines. In: Vaccines (Editors: Plotkin S, Orenstein W, and Offit P). 2008. p1623. YH: The current term 'adverse event' is different from the term definition shown in our paper: He Y, Xiang Z, Sarntivijai S, Toldo L, Ceusters W. OAE: a realism-based biomedical ontology for the representation of adverse events. Adverse Event Representation Workshop, International Conference on Biomedical Ontologies (ICBO), University at Buffalo, NY, July 26-30, 2011. Full lenghth conference proceeding paper. We made the name changing in order to make OAE cover the broader sense of the 'adverse event' which does not assume definite causal effect between an adverse event and a medical intervention. In current definition, the adverse event emphasizes the time association and assumes a likelihood of such a causal association. This term 'adverse event' is stil under the OGMS:pathological bodily process. The 'adverse event' defined in the above paper has now been changed to a new term: 'causal adverse event'. See more information in the new publication: Yongqun He Y, Sirarat Sarntivijai, Yu Lin, Zuoshuang Xiang, Abra Guo, Shelley Zhang, Desikan Jagannathan, Luca Toldo, Cui Tao and Barry Smith. OAE: The Ontology of Adverse Events. Journal of Biomedical Semantics. 2014, 5:29 doi:10.1186/2041-1480-5-29. PMID: 25093068.PMCID: PMC4120740. YH: The main scope of OAE includes: (1) represent terms and relations in the area of adverse events, (2) assess possible associations between an adverse event and a medical intervention, particularly, identify any causal effect of a medical intervention to an adverse event; and (2) understand the mechanism (including molecular mechanisms) of causal adverse events. YH: There has been discussion regarding whether the term 'side effect' is an alternative term for 'adverse event'. In AERO, the term 'AERO:adverse event' represents a subset of those adverse events for which causality has been established. In OAE, an adverse event for which causality has been established is called 'causal adverse event'. Yongqun He AE adverse reaction WEB: http://en.wikipedia.org/wiki/Adverse_event WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm WEB: http://www.ncbi.nlm.nih.gov/pubmed/25093068 The OAE official website is: http://www.oae-ontology.org/. adverse event medical intervention is a planned process that has the goal of diagnosing, preventing or relieving illness or injury. The act of intervening, interfering or interceding with the intent of modifying the outcome. In medicine, an intervention is usually undertaken to help treat or cure a condition. For example, "Acupuncture as a therapeutic intervention is widely practiced in the United States," Reference: http://www.medterms.com/script/main/art.asp?articlekey=34214 . Some interventions can be used for diagnosis. YH WEB: http://wiki.answers.com/Q/What_is_medical_intervention medical intervention a medical intervention where a patient is administered with a drug YH drug administration an adverse event that has an outcome of abnormal sign in a musculoskeletal or connective tissue. YH, RR, JX musculoskeletal and connective tissue disorder AE WEB: http://www.cdc.gov/niosh/programs/msd/ 10028395 A musculoskeletal disorder is an injury or disorder of the muscles, nerves, tendons, joints, cartilage, or supporting structures of the upper or lower limbs, neck, or lower back that are caused, precipitated, or exacerbated by sudden exertion or prolonged exposure to physical factors such as repetition, force, vibration, or awkward posture musculoskeletal or connective tissue AE CTCAE: E13872 an adverse event that shows a complication that occurs after a medical procedure and is directly related to the precedure itself. SS, YH post-procedural AE procedural disorder AE procedure AE procedural complication AE a procedure complication AE that occurs after a surgery. YH surgery adverse event surgical procedure AE The key difference between a surgery and a procedure is the need for an incision. Making an incision, or cutting into the skin to gain access to the body’s deeper tissues or organs, is a defining characteristic of surgery. Technically speaking, a surgery is a specific type of procedure. A procedure is a broad general term that refers to any series of pre-defined steps that should be followed to achieve a desired result. Therefore, a “surgical procedure” is synonymous with a “surgery.” See more: http://www.wisegeekhealth.com/what-is-the-difference-between-a-surgery-and-a-procedure.htm. surgery AE Surgery is a medical procedure that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, to help improve bodily function or appearance. The key difference between a surgery and a general procedure is the need for an incision. Making an incision, or cutting into the skin to gain access to the body’s deeper tissues or organs, is a defining characteristic of surgery. YH, SS surgical procedure WEB: http://en.wikipedia.org/wiki/Surgery WEB: http://www.wisegeekhealth.com/what-is-the-difference-between-a-surgery-and-a-procedure.htm 10042609 surgery a musculoskeletal and connective tissue AE that displays an outcome of fistula, a permanent abnormal passageway between two organs in the body or between an organ and the exterior of the body. WEB: http://medical-dictionary.thefreedictionary.com/fistula 10067143 YH, SS fistula AE HPO: HP_0010294 SIDER: C0016169 a serious AE that is due to an allergic brochospasm, which causes a serious problem with breathing and requires treatment in an emergency room. YH, JX URL: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm URL: https://en.wikipedia.org/wiki/Bronchospasm allergic brochospasm AE that requires treatment in emergency a sensory capability AE that has an outcome of pain in a patient YH, MW 10033371 pain AE CTCAE: E11167 HPO: HP_0010833 NCIt: C3303 SIDER: C0030193 a sudden death AE that occurs to an infant. According to the Vaccine Adverse Event Reporting System (VAERS), 'sudden infant death' is an adverse event that was mentioned in 808 VAERS reports (0.6%) during1991-2001 (Reference: PMID: 12825543). YH sudden infant death AE an AE that occurs in cardiovascular system. YH cardiovascular disorder AE 10007649 cardiovascular AE HPO: HP_0001626 SIDER: C0007222 an adverse event that has an outcome of an abnormal behavior and neurological phenotype. YH, JX behavior AE behavioral AE behavioral disorder AE disruptive behavioral disorder AE WEB: http://www.psychguides.com/guides/behavioral-disorder-symptoms-causes-and-effects/ any anomaly in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls behavioral and neurological AE MP: MP_0004924 a behavior and neurological AE that has an outcome of inability or altered ability to respond to a sensory stimulus sensory capability AE MP: MP_0002067 a urinary system AE that results in the presence of blood in the urine YH, SJ, MW UMLS CUI: C0018965 (hematuria AND haematuria); UMLS CUI: C0947999 (blood urine presence) blood urine blood urine presence haematuria AE WEB: http://kidney.niddk.nih.gov/kudiseases/pubs/hematuria/ 10018867 10018870 10019450 hematuria Hematuria AE can be caused by menstruation, vigorous exercise, sexual activity, viral illness, trauma, or infection, such as a urinary tract infection (UTI), along with more serious disorders such as cancer, disease, and clotting. hematuria AE CTCAE: E13000 MP: MP_0005161 NCIt: C3090 an adverse event that has an outcome of urinary system AE is a functional anomaly of any of the organs involved in the production or excretion of urine YH urinary system AE MP: MP_0005502 serious adverse event is an adverse event that requires in-patient hospitalization, or prolongation of existing hospitalization, or that causes congenital malformation, or that results in persistent or significant disability or incapacity, or that is life threatening or results in death. YH, MC serious adverse event severe adverse event WEB: http://en.wikipedia.org/wiki/Serious_adverse_event WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm WEB: http://www.google.ca/url?sa=t&source=web&ct=res&cd=1&ved=0CA4QFjAA&url=http%3A%2F%2Fwww.irrd.ca%2Fethics%2Fimages%2FAdverse-event-definition.doc&ei=eqFMS-yFNZSoswOt6siKAQ&usg=AFQjCNGnQcwI8OXH7dqxwo4RgZEEn8X6lg&sig2=UNngkCdO5ZTFvbIB1pKuaA serious adverse event a serious adverse event that has an outcome of death. YH WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm 10011906 10011914 death death AE CTCAE: E11080 HPO: HP_0001645 NCIt: C28554 SIDER: C1306577 a serious AE that is suspected to put the patient at substantial risk of dying at the time of the adverse event, or that the use or continued use of the device or other medical product might have resulted in the death of the patient. DJ, SS, YH, JX apparent life threatening event AE WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm 10065044 life-threating AE a serious adverse event that leads to hospitalization. Such an adverse event resulted in an admission to the hospital or prolongation of hospitalization. YH, JX adverse event leading to hospitalization WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm hospitalization AE a serious adverse event that leads to disability or permanent damage. Such an adverse event results in a substantial disruption of a person's ability to conduct normal life functions, i.e., the adverse event resulted in a significant, persistent or permanent change, impairment, damage or disruption in the patient's body function/structure, physical activities and/or quality of life. YH, JX adverse event leading to disability WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm disability or permanent damage AE a serious adverse event that resulted in congenital anomaly and bith defect, leading to suspicions that an exposure to a medical product prior to conception or during pregnancy resulted in an adverse outcome in the child. YH, JX adverse event leading to congenital anomaly WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm WEB: http://www.thefreedictionary.com/birth+defect 10010356 congenital anomaly or birth defect AE a serious adverse event which is an adverse event that requires intervention to prevent permanent impairment or damage leads to suspicions that the use of a medical product may result in a condition which requires a medical or surgical intervention to preclude permanent impairment or damage to a patient. YH, JX WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm adverse event that requires intervention to prevent permanent impairment or damage an cardiovascular adverse event that is a collection of blood outside the blood vessels, generally the result of hemorrhage, or more specifically, internal bleeding. It is commonly called a bruise. YH: MedDRA ID: 10018852 is for "haematoma"; MedDRA ID: 10019428 is for "hematoma". SS, YH bruise AE bruising AE ecchymoses AE haematoma AE WEB: http://en.wikipedia.org/wiki/Hematoma 10006504 10018852 10019428 hematoma AE CTCAE: E13775 (hematoma); CTCAE: E11666 (brruising) HPO: HP_0001892 NCIt: C37921 (Bruising); NCIt: C50579 (Hematoma) SIDER: C0018944 an adverse event that has an outcome of disease in the biological tissue that supports, binds together and protects organs DJ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/connective+tissue+disease 10061087 connective tissue disorder AE HPO: HP_0003549 SIDER: C0009782 a connective tissue disorder AE that occurs in the non-skeletal tissue, usually subcutaneous and muscle tissue SZ, SS, YH WEB: http://www.reference.md/files/D018/mD018461.html 10062255 soft tissue infection soft tissue infection AE CTCAE: E11579 HPO: HP_0002719 NCIt: C79745 SIDER: C0149778 a death AE that has an outcome of unexpected death, 1 to 24 hours after the onset of symptoms SZ, SS, YH WEB: http://medical-dictionary.thefreedictionary.com/sudden+death 10042434 10042435 sudden death AE CTCAE: E11171 HPO: HP_0001645 NCIt: C50911 SIDER: C0011071 a process quality that represents the level of severity of an adverse event. YH, SS AE severity severity of adverse event a severity of AE that shows sign and symptom within normal limits. YH, SS AE severity Grade 0 Web: http://ncicb.nci.nih.gov/xml/owl/EVS/ctcae.owl#Grade_0_Adverse_Event Note the AE severity Grade 0 equals to CTCAE G0 AE severity. AE severity G0 CTCAE4: E10004 (Grade 0 Adverse Event) a severity of AE that shows asymptomatic, or involves mild or minor symptoms, or is of marginal clinical relevance, or consists of clinical or diagnostic observations alone, or where intervention is not indicated, or where only non-prescription intervention is indicated. YH, SS AE severity Grade 1 Web: http://ncicb.nci.nih.gov/xml/owl/EVS/ctcae.owl#Grade_1_Adverse_Event Note the AE severity Grade 1 equals to CTCAE G1 AE severity. AE severity G1 CTCAE4: E10005 (Grade 1 Adverse Event) a severity of AE for which only minimal, local, or noninvasive intervention (e.g. packing, cautery) is indicated, or that limits instrumental activities of daily living (ADLs, e.g., shopping, laundry, transportation, or ability to conduct finances). YH, SS AE severity Grade 2 Web: http://ncicb.nci.nih.gov/xml/owl/EVS/ctcae.owl#Grade_2_Adverse_Event Note the AE severity Grade 2 equals to CTCAE G2 AE severity. AE severity G2 CTCAE4: E10006 (Grade 2 Adverse Event) a severity of AE that shows an outcome which is medically significant but not life-threatening; or for which inpatient care or prolongation of hospitalization are indicated; or that is an important medical event that does not result in hospitalization, but may jeopardize the patient or may require intervention either to prevent hospitalization, to prevent the AE from becoming life-threatening or causing death; or that is disabling; or that results in persistent or significant disability, incapacity, or limitation of self care activities of daily living (ADLs, getting in and out of bed, dressing, eating, getting around inside, bathing, or using the toilet). YH, SS AE severity Grade 3 Web: http://ncicb.nci.nih.gov/xml/owl/EVS/ctcae.owl#Grade_3_Adverse_Event Note the AE severity Grade 3 equals to CTCAE G3 AE severity. AE severity G3 CTCAE4: E10007 (Grade 3 Adverse Event) a severity of AE that has life-threatening consequences, for which urgent intervention is indicated, that puts the patient is at risk of death at the time of the event if immediate intervention is not undertaken, or that causes blindness or deafness (need to decide if unilateral or bilateral). YH, SS AE severity Grade 4 Web: http://ncicb.nci.nih.gov/xml/owl/EVS/ctcae.owl#Grade_4_Adverse_Event Note the AE severity Grade 4 equals to CTCAE G4 AE severity. AE severity G4 CTCAE4: E10008 (Grade 4 Adverse Event) a severity of AE that results in death. YH, SS AE severity Grade 5 Web: http://ncicb.nci.nih.gov/xml/owl/EVS/ctcae.owl#Grade_5_Adverse_Event Note the AE severity Grade 5 equals to CTCAE G5 AE severity. AE severity G5 CTCAE4: E10009 (Grade 5 Adverse Event) a hospitalization AE that leads to an intial hospitalization. YH, JX WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm initial hospitalization AE a hospitalization AE that leads to a prolonged hospitalization. YH, JX WEB: http://www.fda.gov/Safety/MedWatch/HowToReport/ucm053087.htm prolonged hospitalization AE an adverse event that shows a result of injury or procedural complication. JX, YH injury and procedural complication AE injury or procedural complication AE a pain AE that has marked discomfort sensation on the lateral side of the body in the region below the ribs and above the hip. MW, YH 10016750 flank pain flank pain AE CTCAE: E12414 NCIt: C34615 a death AE that has death in utero; failure of the product of conception to show evidence of respiration, heartbeat, or definite movement of a voluntary muscle after expulsion from the uterus, without possibility of resuscitation. MW, YH 10016479 fetal death AE CTCAE: E12855 NCIt: C50620 a medical intervention that refers to any series of pre-defined steps that should be followed to achieve a desired result. YH, SS WEB: http://www.wisegeekhealth.com/what-is-the-difference-between-a-surgery-and-a-procedure.htm medical procedure YH, JX a behavioral quality where the behavior in an organism is abnormal. WEB: https://en.wikipedia.org/wiki/Abnormality_(behavior) behavior abnormal quality a death AE that has cessation of life occurring during the first 28 days of life. MW, YH 10011912 death neonatal AE CTCAE: E11078 NCIt: C80082 An adverse event of hematoma in the subcapsular space of the kidney. This event occurs after a medical intervention, and may be caused by a tumor, trauma, vasculitis, renal infarction, or other disease process. YH, EO https://medical-dictionary.thefreedictionary.com/subcapsular+hematoma subcapsular hematoma subcapsular hematoma AE An adverse event of hematoma occurring around the kidney. YH, EO perinephric hematoma perinephric hematoma AE YH, EO arteriovenous fistulae arteriovenous fistula arteriovenous fistula AE An adverse event of surgery that leads to the puncturing of an adjacent organ. For example, a needle to the kidney may puncture the adjacent organs. Jennifer Schaub, Oliver He puncturing of adjacent organs https://www.ncbi.nlm.nih.gov/books/NBK493205/ puncturing of adjacent organ AE A date of specimen collection for the first collection of blood from a donor. Person: Chris Stoeckert, Helena Ellis, Jie Zheng OBIB NCI BBRB first blood draw date A date of specimen collection for the first collection of a tissue from a donor. Person: Chris Stoeckert, Helena Ellis, Jie Zheng OBIB NCI BBRB first tissue removed date A date of specimen collection on which the surgery was performed during which the specimen was collected. Person: Chris Stoeckert, Helena Ellis, Jie Zheng NCI BBRB, OBIB NCI BBRB date of surgical removal of specimen A data item that indicates the time when the collection of a specimen occurred. Alice Nzinga Mathias Brochhausen date of specimen preparation It is denoted by Date in ISO-standard (8601) time format. date of specimen collection planned process planned process Injecting mice with a vaccine in order to test its efficacy A process that realizes a plan which is the concretization of a plan specification. A processual entity that realizes a plan which is the concretization of a plan specification. 'Plan' includes a future direction sense. That can be problematic if plans are changed during their execution. There are however implicit contingencies for protocols that an agent has in his mind that can be considered part of the plan, even if the agent didn't have them in mind before. Therefore, a planned process can diverge from what the agent would have said the plan was before executing it, by adjusting to problems encountered during execution (e.g. choosing another reagent with equivalent properties, if the originally planned one has run out.) We are only considering successfully completed planned processes. A plan may be modified, and details added during execution. For a given planned process, the associated realized plan specification is the one encompassing all changes made during execution. This means that all processes in which an agent acts towards achieving some objectives is a planned process. Bjoern Peters branch derived 6/11/9: Edited at workshop. Used to include: is initiated by an agent This class merges the previously separated objective driven process and planned process, as they the separation proved hard to maintain. (1/22/09, branch call) http://purl.obolibrary.org/obo/obi.owl planned process planned process clinical research coordinator role a worker role comprised of handling the administrative duties of a trial or study. Person:Jennifer Fostel clinical research coordinator clinical research coordinator role processed material Examples include gel matrices, filter paper, parafilm and buffer solutions, mass spectrometer, tissue samples Is a material entity that is created or changed during material processing. PERSON: Alan Ruttenberg processed material investigation Lung cancer investigation using expression profiling, a stem cell transplant investigation, biobanking is not an investigation, though it may be part of an investigation a planned process that consists of parts: planning, study design execution, documentation and which produce conclusion(s). Bjoern Peters OBI branch derived Could add specific objective specification Following OBI call November 2012,26th: it was decided there was no need for adding "achieves objective of drawing conclusion" as existing relations were providing equivalent ability. this note closes the issue and validates the class definition to be part of the OBI core editor = PRS study investigation evaluant role When a specimen of blood is assayed for glucose concentration, the blood has the evaluant role. When measuring the mass of a mouse, the evaluant is the mouse. When measuring the time of DNA replication, the evaluant is the DNA. When measuring the intensity of light on a surface, the evaluant is the light source. a role that inheres in a material entity that is realized in an assay in which data is generated about the bearer of the evaluant role Role call - 17nov-08: JF and MC think an evaluant role is always specified input of a process. Even in the case where we have an assay taking blood as evaluant and outputting blood, the blood is not the specified output at the end of the assay (the concentration of glucose in the blood is) examples of features that could be described in an evaluant: quality.... e.g. "contains 10 pg/ml IL2", or "no glucose detected") GROUP: Role Branch OBI Feb 10, 2009. changes after discussion at OBI Consortium Workshop Feb 2-6, 2009. accepted as core term. evaluant role assay Assay the wavelength of light emitted by excited Neon atoms. Count of geese flying over a house. A planned process with the objective to produce information about the material entity that is the evaluant, by physically examining it or its proxies. 12/3/12: BP: the reference to the 'physical examination' is included to point out that a prediction is not an assay, as that does not require physical examiniation. PlanAndPlannedProcess Branch measuring scientific observation OBI branch derived study assay any method assay sample preparation for assay A sample_preparation_for_assay is a protocol_application including material_enrollments and biomaterial_transformations. definition_source: OBI. PlanAndPlannedProcess Branch study OBI branch derived sample preparation for assay diagnosis textual entity diagnosis is an assessment of a disease or injury, its likely prognosis and treatment. Jennifer Fostel diagnosis textual entity culture medium A growth medium or culture medium is a substance in which microorganisms or cells can grow. Wikipedia, growth medium, Feb 29, 2008 a processed material that provides the needed nourishment for microorganisms or cells grown in vitro. changed from a role to a processed material based on on Aug 22, 2011 dev call. Details see the tracker item: http://sourceforge.net/tracker/?func=detail&aid=3325270&group_id=177891&atid=886178 Modification made by JZ. Person: Jennifer Fostel, Jie Zheng OBI culture medium reagent role Buffer, dye, a catalyst, a solvating agent. A role inhering in a biological or chemical entity that is intended to be applied in a scientific technique to participate (or have molecular components that participate) in a chemical reaction that facilitates the generation of data about some entity distinct from the bearer, or the generation of some specified material output distinct from the bearer. PERSON:Matthew Brush reagent PERSON:Matthew Brush Feb 10, 2009. changes after discussion at OBI Consortium Workshop Feb 2-6, 2009. accepted as core term. May 28 2013. Updated definition taken from ReO based on discussions initiated in Philly 2011 workshop. Former defnition described a narrower view of reagents in chemistry that restricts bearers of the role to be chemical entities ("a role played by a molecular entity used to produce a chemical reaction to detect, measure, or produce other substances"). Updated definition allows for broader view of reagents in the domain of biomedical research to include larger materials that have parts that participate chemically in a molecular reaction or interaction. Feb 10, 2009. changes after discussion at OBI Consortium Workshop Feb 2-6, 2009. accepted as core term. May 28 2013. Updated definition taken from ReO based on discussions initiated in Philly 2011 workshop. Former defnition described a narrower view of reagents in chemistry that restricts bearers of the role to be chemical entities ("a role played by a molecular entity used to produce a chemical reaction to detect, measure, or produce other substances"). Updated definition allows for broader view of reagents in the domain of biomedical research to include larger materials that have parts that participate chemically in a molecular reaction or interaction. (copied from ReO) Reagents are distinguished from instruments or devices that also participate in scientific techniques by the fact that reagents are chemical or biological in nature and necessarily participate in or have parts that participate in some chemical interaction or reaction during their intended participation in some technique. By contrast, instruments do not participate in a chemical reaction/interaction during the technique. Reagents are distinguished from study subjects/evaluants in that study subjects and evaluants are that about which conclusions are drawn and knowledge is sought in an investigation - while reagents, by definition, are not. It should be noted, however, that reagent and study subject/evaluant roles can be borne by instances of the same type of material entity - but a given instance will realize only one of these roles in the execution of a given assay or technique. For example, taq polymerase can bear a reagent role or an evaluant role. In a DNA sequencing assay aimed at generating sequence data about some plasmid, the reagent role of the taq polymerase is realized. In an assay to evaluate the quality of the taq polymerase itself, the evaluant/study subject role of the taq is realized, but not the reagent role since the taq is the subject about which data is generated. In regard to the statement that reagents are 'distinct' from the specified outputs of a technique, note that a reagent may be incorporated into a material output of a technique, as long as the IDENTITY of this output is distinct from that of the bearer of the reagent role. For example, dNTPs input into a PCR are reagents that become part of the material output of this technique, but this output has a new identity (ie that of a 'nucleic acid molecule') that is distinct from the identity of the dNTPs that comprise it. Similarly, a biotin molecule input into a cell labeling technique are reagents that become part of the specified output, but the identity of the output is that of some modified cell specimen which shares identity with the input unmodified cell specimen, and not with the biotin label. Thus, we see that an important criteria of 'reagent-ness' is that it is a facilitator, and not the primary focus of an investigation or material processing technique (ie not the specified subject/evaluant about which knowledge is sought, or the specified output material of the technique). reagent role patient role a hospitalized person; a person with controlled diabetes; the patient's role http://www.fertilityjourney.com/testingAndDiagnosis/theRightDoctor/thePatientsRole/index.asp?C=55245395146924652778 a role which inheres in a person and is realized by the process of being under the care of a physician or health care provider GROUP:Role Branch patient OBI, CDISC CDISC definition: patient. Person under a physician's care for a particular disease or condition. NOTE: A subject in a clinical trial is not necessarily a patient, but a patient in a clinical trial is a subject. See also subject, trial subject, healthy volunteer. Often used interchangeably patient role material processing A cell lysis, production of a cloning vector, creating a buffer. A planned process which results in physical changes in a specified input material PERSON: Bjoern Peters PERSON: Frank Gibson PERSON: Jennifer Fostel PERSON: Melanie Courtot PERSON: Philippe Rocca Serra material transformation OBI branch derived material processing study subject role Human subjects in a clinical trial, rats in a toxicogenomics study, tissue cutlures subjected to drug tests, fish observed in an ecotoxicology study. Parasite example: people are infected with a parasite which is then extracted; the particpant under investigation could be the parasite, the people, or a population of which the people are members, depending on the nature of the study. Lake example: a lake could realize this role in an investigation that assays pollution levels in samples of water taken from the lake. A role that is realized through the execution of a study design in which the bearer of the role participates and in which data about that bearer is collected. A participant can realize both "specimen role" and "participant under investigation role" at the same time. However "participant under investigation role" is distinct from "specimen role", since a specimen could somehow be involved in an investigation without being the thing that is under investigation. GROUP: Role Branch OBI Following OBI call November 2012,26th: 1. it was decided there was no need for moving the children class and making them siblings of study subject role. 2. it also settles the disambiguation about 'study subject'. This is about the individual participating in the investigation/study, Not the 'topic' (as in 'toxicity study') of the investigation/study This note closes the issue and validates the class definition to be part of the OBI core editor = PRS participant under investigation role responsible party role he THERAPIST has the ability to print a separate statement for the patient and each responsible party. http://www.beaverlog.com/therapist/ez_support/billing/responsible_party_statements.htm a study personnel role played by a party who is accountable for the execution of a study component and can make decisions about the conduct of the study Person: Jennifer Fostel responsible party OBI responsible party role specimen role liver section; a portion of a culture of cells; a nemotode or other animal once no longer a subject (generally killed); portion of blood from a patient. a role borne by a material entity that is gained during a specimen collection process and that can be realized by use of the specimen in an investigation 22Jun09. The definition includes whole organisms, and can include a human. The link between specimen role and study subject role has been removed. A specimen taken as part of a case study is not considered to be a population representative, while a specimen taken as representing a population, e.g. person taken from a cohort, blood specimen taken from an animal) would be considered a population representative and would also bear material sample role. Note: definition is in specimen creation objective which is defined as an objective to obtain and store a material entity for potential use as an input during an investigation. blood taken from animal: animal continues in study, whereas blood has role specimen. something taken from study subject, leaves the study and becomes the specimen. parasite example - when parasite in people we study people, people are subjects and parasites are specimen - when parasite extracted, they become subject in the following study specimen can later be subject. GROUP: Role Branch OBI specimen role worker role Public sector workers in states that run their own OSHA programs are covered by those states. http://www.osha.gov/as/opa/worker/index.html a personnel role played by a party who executes a component of the study plan; this can occur before, during, after or outside the study timeline "executes the study plan" includes the suppliers and manufacturers of reagents and other materials used in the study Person:Jennifer Fostel worker OBI worker role population PMID12564891. Environ Sci Technol. 2003 Jan 15;37(2):223-8. Effects of historic PCB exposures on the reproductive success of the Hudson River striped bass population. a population is a collection of individuals from the same taxonomic class living, counted or sampled at a particular site or in a particular area 1/28/2013, BP, on the call it was raised that we may want to switch to an external ontology for all populatin terms: http://code.google.com/p/popcomm-ontology/ PERSON: Philippe Rocca-Serra adapted from Oxford English Dictionnary rem1: collection somehow always involve a selection process population investigation agent role The person perform microarray experiments and submit microarray results (including raw data, processed data) with experiment description to ArrayExpress. A role borne by an entity and that is realized in a process that is part of an investigation in which an objective is achieved. These processes include, among others: planning, overseeing, funding, reviewing. Implementing a study means carrying out or performing the study and providing reagents or other materials used in the study and other tasks without which the study would not happen. Philly2013: Historically, this role would have been borne only by humans or organizations. However, we now also want to enable representing investigations run by robot scientists such as ADAM (King et al, Science, 2009) GROUP: Role Branch investigator OBI Feb 10, 2009. changes after discussion at OBI Consortium Workshop Feb 2-6, 2009. accepted as core term. study person role Philly2013: Historically, this role would have been borne only by humans or organizations. However, we now also want to enable investigations run by robot scientists such as ADAM (King et al, Science, 2009) investigation agent role sponsor role a responsible party role involved with any of the following activities: initiating, managing and funding a study Person: Jennifer Fostel sponsor CDISC definition: sponsor. 1. An individual, company, institution, or organization that takes responsibility for the initiation, management, and/or financing of a clinical trial. 2. A corporation or agency whose employees conduct the investigation is considered a sponsor; employees are considered investigators sponsor role organization PMID: 16353909.AAPS J. 2005 Sep 22;7(2):E274-80. Review. The joint food and agriculture organization of the United Nations/World Health Organization Expert Committee on Food Additives and its role in the evaluation of the safety of veterinary drug residues in foods. An entity that can bear roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members. An organization is a continuant entity which can play roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members. BP: The definition summarizes long email discussions on the OBI developer, roles, biomaterial and denrie branches. It leaves open if an organization is a material entity or a dependent continuant, as no consensus was reached on that. The current placement as material is therefore temporary, in order to move forward with development. Here is the entire email summary, on which the definition is based: 1) there are organization_member_roles (president, treasurer, branch editor), with individual persons as bearers 2) there are organization_roles (employer, owner, vendor, patent holder) 3) an organization has a charter / rules / bylaws, which specify what roles there are, how they should be realized, and how to modify the charter/rules/bylaws themselves. It is debatable what the organization itself is (some kind of dependent continuant or an aggregate of people). This also determines who/what the bearer of organization_roles' are. My personal favorite is still to define organization as a kind of 'legal entity', but thinking it through leads to all kinds of questions that are clearly outside the scope of OBI. Interestingly enough, it does not seem to matter much where we place organization itself, as long as we can subclass it (University, Corporation, Government Agency, Hospital), instantiate it (Affymetrix, NCBI, NIH, ISO, W3C, University of Oklahoma), and have it play roles. This leads to my proposal: We define organization through the statements 1 - 3 above, but without an 'is a' statement for now. We can leave it in its current place in the is_a hierarchy (material entity) or move it up to 'continuant'. We leave further clarifications to BFO, and close this issue for now. PERSON: Alan Ruttenberg PERSON: Bjoern Peters PERSON: Philippe Rocca-Serra PERSON: Susanna Sansone GROUP: OBI organization protocol PCR protocol, has objective specification, amplify DNA fragment of interest, and has action specification describes the amounts of experimental reagents used (e..g. buffers, dNTPS, enzyme), and the temperature and cycle time settings for running the PCR. A plan specification which has sufficient level of detail and quantitative information to communicate it between investigation agents, so that different investigation agents will reliably be able to independently reproduce the process. PlanAndPlannedProcess Branch OBI branch derived + wikipedia (http://en.wikipedia.org/wiki/Protocol_%28natural_sciences%29) study protocol protocol adding a material entity into a target Injecting a drug into a mouse. Adding IL-2 to a cell culture. Adding NaCl into water. is a process with the objective to place a material entity bearing the 'material to be added role' into a material bearing the 'target of material addition role'. Class was renamed from 'administering substance', as this is commonly used only for additions into organisms. BP branch derived adding a material entity into a target analyte role Glucose in blood (measured in an assay to determine the concentration of glucose). A measurand role borne by a molecular entity or an atom and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role. interestingly, an analyte is still an analyte even if it is not detected. for this reason it does not bear a specified input role pH (technically the inverse log of [H+]) may be considered a quality; this remains to be tested. qualities such as weight, color are not assayed but measured, so they do not fall into this category. GROUP: Role Branch OBI Feb 10, 2009. changes after discussion at OBI Consortium Workshop Feb 2-6, 2009. accepted as core term. analyte role material to be added role drug added to a buffer contained in a tube; substance injected into an animal; material to be added role is a protocol participant role realized by a material which is added into a material bearing the target of material addition role in a material addition process Role Branch OBI 9 March 09 from discussion with PA branch material to be added role interpreting data Concluding that a gene is upregulated in a tissue sample based on the band intensity in a western blot. Concluding that a patient has a infection based on measurement of an elevated body temperature and reported headache. Concluding that there were problems in an investigation because data from PCR and microarray are conflicting. Concluding that 'defects in gene XYZ cause cancer due to improper DNA repair' based on data from experiments in that study that gene XYZ is involved in DNA repair, and the conclusion of a previous study that cancer patients have an increased number of mutations in this gene. A planned process in which data gathered in an investigation is evaluated in the context of existing knowledge with the objective to generate more general conclusions or to conclude that the data does not allow one to draw general conclusion PERSON: Bjoern Peters PERSON: Jennifer Fostel Bjoern Peters drawing a conclusion based on data planning The process of a scientist thinking about and deciding what reagents to use as part of a protocol for an experiment. Note that the scientist could be human or a "robot scientist" executing software. a process of creating or modifying a plan specification 7/18/2011 BP: planning used to itself be a planned process. Barry Smith pointed out that this would lead to an infinite regression, as there would have to be a plan to conduct a planning process, which in itself would be the result of planning etc. Therefore, the restrictions on 'planning' were loosened to allow for informal processes that result in an 'ad hoc plan '. This required changing from 'has_specified_output some plan specifiction' to 'has_participant some plan specification'. Bjoern Peters Bjoern Peters Plans and Planned Processes Branch planning hypothesis driven investigation is an investigation with the goal to test one or more hypothesis PlanAndPlannedProcess Branch OBI branch derived hypothesis driven investigation hypothesis generating investigation is an investigation in which data is generated and analyzed with the purpose of generating new hypothesis PlanAndPlannedProcess Branch OBI branch derived hypothesis generating investigation transfer function A transfer function is a function to displace a material from one location to another. Bill Bug Daniel Schober Frank Gibson Melanie Courtot transfer function solid support function Taped, glued, pinned, dried or molecularly bonded to a solid support A solid support function is a function of a device on which an entity is kept in a defined position and prevented in its movement Daniel Schober Frank Gibson Melanie Courtot solid support function extract Up-regulation of inflammatory signalings by areca nut extract and role of cyclooxygenase-2 -1195G>a polymorphism reveal risk of oral cancer. Cancer Res. 2008 Oct 15;68(20):8489-98. PMID: 18922923 an extract is a material entity which results from an extraction process PERSON: Philippe Rocca-Serra extracted material GROUP: OBI Biomatrial Branch extract adding material objective creating a mouse infected with LCM virus is the specification of an objective to add a material into a target material. The adding is asymmetric in the sense that the target material largely retains its identity BP adding material objective needle Ovarian carcinoma presenting with axillary lymph node metastasis: A case diagnosed by fine-needle aspiration and brief review of the literature. Diagn Cytopathol. 2008 Oct 16. PMID: 18925569 A needle is a sharp, hollow device used to penetrate tissue or soft material. When attached to a syringe. it allows delivery of a specific volume of liquid or gaseous mixture. Philippe Rocca-Serra OBI Instrument needle analyte measurement objective The objective to measure the concentration of glucose in a blood sample an assay objective to determine the presence or concentration of an analyte in the evaluant PERSON: Bjoern Peters PPPB branch analyte measurement objective assay objective the objective to determine the weight of a mouse. an objective specification to determine a specified type of information about an evaluated entity (the material entity bearing evaluant role) PPPB branch PPPB branch assay objective analyte assay example of usage: In lab test for blood glucose, the test is the assay, the blood bears evaluant_role and glucose bears the analyte role. The evaluant is considered an input to the assay and the information entity that records the measurement of glucose concentration the output An assay with the objective to capture information about the presence, concentration, or amount of an analyte in an evaluant. Alan Ruttenberg Bjoern Peters Helen Parkinson Philippe Rocca-Serra Alan Ruttenberg Bjoern Peters Helen Parkinson OBI Planned process branch Philippe Rocca-Serra analyte assay target of material addition role peritoneum of an animal receiving an interperitoneal injection; solution in a tube receiving additional material; location of absorbed material following a dermal application. target of material addition role is a role realized by an entity into which a material is added in a material addition process From Branch discussion with BP, AR, MC -- there is a need for the recipient to interact with the administered material. for example, a tooth receiving a filling was not considered to be a target role. GROUP: Role Branch OBI target of material addition role measure function A glucometer measures blood glucose concentration, the glucometer has a measure function. Measure function is a function that is borne by a processed material and realized in a process in which information about some entity is expressed relative to some reference. PERSON: Daniel Schober PERSON: Helen Parkinson PERSON: Melanie Courtot PERSON:Frank Gibson measure function material transformation objective The objective to create a mouse infected with LCM virus. The objective to create a defined solution of PBS. an objective specifiction that creates an specific output object from input materials. PERSON: Bjoern Peters PERSON: Frank Gibson PERSON: Jennifer Fostel PERSON: Melanie Courtot PERSON: Philippe Rocca-Serra artifact creation objective GROUP: OBI PlanAndPlannedProcess Branch material transformation objective manufacturing A planned process with the objective to produce a processed material which will have a function for future use. A person or organization (having manufacturer role) is a participant in this process Manufacturing implies reproducibility and responsibility AR This includes a single scientist making a processed material for personal use. PERSON: Bjoern Peters PERSON: Frank Gibson PERSON: Jennifer Fostel PERSON: Melanie Courtot PERSON: Philippe Rocca-Serra GROUP: OBI PlanAndPlannedProcess Branch manufacturing manufacturing objective is the objective to manufacture a material of a certain function (device) PERSON: Bjoern Peters PERSON: Frank Gibson PERSON: Jennifer Fostel PERSON: Melanie Courtot PERSON: Philippe Rocca-Serra GROUP: OBI PlanAndPlannedProcess Branch manufacturing objective study design execution injecting a mouse with PBS solution, weighing it, and recording the weight according to a study design. a planned process that carries out a study design removed axiom has_part some (assay or 'data transformation') per discussion on protocol application mailing list to improve reasoner performance. The axiom is still desired. branch derived 6/11/9: edited at workshop. Used to be: study design execution is a process with the objective to generate data according to a concretized study design. The execution of a study design is part of an investigation, and minimally consists of an assay or data transformation. study design execution clinical chemistry assay Influence of hydroxyethyl starch (6% HES 130/0.4) administration on hematology and clinical chemistry parameters. An analyte assay which uses analytical methods to produce measurements and data on the concentration of chemical parameters (analytes) present in a bodily fluid collected from an organism. Philippe Rocca-Serra chemical pathology detection of analyte in blood sample url:https://en.wikipedia.org/wiki/Clinical_chemistry clinical chemistry assay manufacturer role With respect to The Accuri C6 Flow Cytometer System, the organization Accuri bears the role manufacturer role. With respect to a transformed line of tissue culture cells derived by a specific lab, the lab whose personnel isolated the cll line bears the role manufacturer role. With respect to a specific antibody produced by an individual scientist, the scientist who purifies, characterizes and distributes the anitbody bears the role manufacturer role. Manufacturer role is a role which inheres in a person or organization and which is realized by a manufacturing process. GROUP: Role Branch OBI manufacturer role scattered molecular aggregate the sodium and chloride ions in a glass of salt water A scattered molecular aggregate is a material entity that consists of all the molecules of a specific type that are located in some bounded region and which is part of a more massive material entity that has parts that are other such aggregates a material entity that consists of all the molecules of a specific type that are located in some bounded region and which is part of a more massive material entity that has parts that are other such aggregates PERSON: Alan Ruttenberg Collective Discussion in Karslruhe with, among others, Alan Rector, Stefan Schulz, Marijke Keet, Melanie Courtot, and Alan Ruttenberg. With inspiration from the paper Granularity, scale and collectivity: When size does and does not matter, Alan Recto, Jeremy Rogers, Thomas Bittner, Journal of Biomedical Informatics 39 (2006) 333-349 scattered molecular aggregate material separation objective The objective to obtain multiple aliquots of an enzyme preparation. The objective to obtain cells contained in a sample of blood. is an objective to transform a material entity into spatially separated components. PPPB branch PPPB branch material separation objective material combination Mixing two fluids. Adding salt into water. Injecting a mouse with PBS. is a material processing with the objective to combine two or more material entities as input into a single material entity as output. created at workshop as parent class for 'adding material into target', which is asymmetric, while combination encompasses all addition processes. bp bp material combination specimen collection process drawing blood from a patient for analysis, collecting a piece of a plant for depositing in a herbarium, buying meat from a butcher in order to measure its protein content in an investigation A planned process with the objective of collecting a specimen. Note: definition is in specimen creation objective which is defined as an objective to obtain and store a material entity for potential use as an input during an investigation. Philly2013: A specimen collection can have as part a material entity acquisition, such as ordering from a bank. The distinction is that specimen collection necessarily involves the creation of a specimen role. However ordering cell lines cells from ATCC for use in an investigation is NOT a specimen collection, because the cell lines already have a specimen role. Philly2013: The specimen_role for the specimen is created during the specimen collection process. label changed to 'specimen collection process' on 10/27/2014, details see tracker: http://sourceforge.net/p/obi/obi-terms/716/ Bjoern Peters specimen collection 5/31/2012: This process is not necessarily an acquisition, as specimens may be collected from materials already in posession 6/9/09: used at workshop specimen collection process enzyme-linked immunosorbent assay 1) Detection of IL-2 (analyte) in a cell supernatant (evaluant), using plate bound anti IL-2 antibodies, and a reporter enzyme-linked reporter antibody. 2) Measurement of IgG antibody (analyte) titer in a serum sample (evaluant) using plate bound antigen and a reporter anti-IgG antibody. An analyte assay where binding of an enzyme linked antibody to a material entity that is immobilized on solid support is detected utilizing a chemiluminescent reaction. Depending on the setup, the enzyme-linked antibody could be binding directly to the analyte, or it serves as a secondary antibody detecting binding of the primary antibody to the analyte. IEDB ELISA IEDB enzyme-linked immunosorbent assay sample from organism a material obtained from an organism in order to be a representative of the whole 5/29: This is a helper class for now we need to work on this: Is taking a urine sample a material separation process? If not, we will need to specify what 'taking a sample from organism' entails. We can argue that the objective to obtain a urine sample from a patient is enough to call it a material separation process, but it could dilute what material separation was supposed to be about. sample from organism portioning objective The objective to obtain multiple aliquots of an enzyme preparation. A material separation objective aiming to separate material into multiple portions, each of which contains a similar composition of the input material. portioning objective separation into different composition objective The objective to obtain cells contained in a sample of blood. A material separation objective aiming to separate a material entity that has parts of different types, and end with at least one output that is a material with parts of fewer types (modulo impurities). We should be using has the grain relations or concentrations to distinguish the portioning and other sub-objectives separation into different composition objective specimen collection objective The objective to collect bits of excrement in the rainforest. The objective to obtain a blood sample from a patient. A objective specification to obtain a material entity for potential use as an input during an investigation. Bjoern Peters Bjoern Peters specimen collection objective material combination objective is an objective to obtain an output material that contains several input materials. PPPB branch bp material combination objective host role In biology, a host is an organism that harbors a virus or parasite, or a mutual or commensal symbiont, typically providing nourishment and shelter. http://en.wikipedia.org/wiki/Host_(biology) 30 March 09 host role is a role played by an organism and realized by providing nourishment, shelter or a means of reproduction to another organism within the organism playing the host role 30Mar09 virus reproducing inside a cell; bacteria causing a disease, host can be harmed or not. we want to avoid a cat sitting on my lap and an animal care technician; these are not examples or hosts; dental cares = on tooth, but part of outer layer of tooth, so covered by "within" in the definition GROUP: Role Branch 30 Mar09 submitted by vaccine community OBI http://en.wikipedia.org/wiki/Host_(biology) host role material sample role a role borne by a portion of blood taken to represent all the blood in an organism; the role borne by a population of humans with HIV enrolled in a study taken to represent patients with HIV in general. A material sample role is a specimen role borne by a material entity that is the output of a material sampling process. 7/13/09: Note that this is a relational role: between the sample taken and the 'sampled' material of which the sample is thought to be representative off. material sample role material sample blood drawn from patient to measure his systemic glucose level. A population of humans with HIV enrolled in a study taken to represent patients with HIV in general. A material entity that has the material sample role OBI: workshop sample population sample material sample material maintenance objective An objective specification maintains some or all of the qualities of a material over time. PERSON: Bjoern Peters PERSON: Bjoern Peters material maintenance objective informed consent process A planned process in which a person or their legal representative is informed about key facts about potential risks and benefits of a process and makes a documented decision as to whether the person in question will participate. 09/28/2009 Alan Ruttenberg: This is made a subclass of the higher level processual entity in BFO because I don't want to take a stand on whether it is a process aggregate. Analogous to the situation with Material entity. Person:Alan Ruttenberg http://clinicaltrials.gov/ct2/info/glossary#informed 2009/09/28 Alan Ruttenberg. Fucoidan-use-case informed consent process measurement device A ruler, a microarray scanner, a Geiger counter. A device in which a measure function inheres. GROUP:OBI Philly workshop OBI measurement device manufacturer A person or organization that has a manufacturer role. manufacturer material maintenance A planned process with the objective to maintain some or all of the characteristics of an input material over time. a process with that achieves the objective to maintain some or all of the characteristics of an input material over time material maintenance establishing cancer cell line Establishment of HeLa immortal cell line is a planned process in which the objective is to generate a cell line from a natural population of cancer cells which are already immortal Helen Parkinson establishing cancer cell line cell line immortalization Production of a cell line for the purposes of experimentation e.g. EBV transformation of PBMs an establishing cell line process whereby a mortal cell line is intentionally genetically modified to be capable of indefinite propagation and re-established as a new immortal cell line 4-20-13 MHB: This class was repositioned as a child of 'establishing cell line', based on the existing definition ("the planned process of experimentally creating a cell line which is capable of dividing indefinitely in vitro"), and examples and other annotations indicating the intent to describe a process through which a new immortal cell line is established from an existing mortal cell line using genetic modification techniques. The definition above was modified to clarify this perspective. Bjoern Peters 'establishing immortal cell line through directed genetic modification' OBI A immortalizing genetic transformation of an existing population of cell line cells is required as part of this process, as are additional steps for selecting and propagating the cells output form this process into a cell line. cell line immortalization categorical measurement datum A measurement datum that is reported on a categorical scale Bjoern Peters nominal mesurement datum Bjoern Peters categorical measurement datum service consumer role A biologist who uses a sequencing services fulfills the role of a service consumer a role which inheres in a person who uses a service Person:Helen Parkinson OBI service consumer role service provider role Jackson Lab provides experimental animals, EBI provides training on databases, a core facility provides access to a DNA sequencer. is a role which inheres in a person or organization and is realized in in a planned process which provides access to training, materials or execution of protocols for an organization or person PERSON:Helen Parkinson service provider role processed specimen A tissue sample that has been sliced and stained for a histology study. A blood specimen that has been centrifuged to obtain the white blood cells. A specimen that has been intentionally physically modified. Bjoern Peters Bjoern Peters A tissue sample that has been sliced and stained for a histology study. processed specimen device A voltmeter is a measurement device which is intended to perform some measure function. An autoclave is a device that sterlizes instruments or contaminated waste by applying high temperature and pressure. A material entity that is designed to perform a function in a scientific investigation, but is not a reagent. 2012-12-17 JAO: In common lab usage, there is a distinction made between devices and reagents that is difficult to model. Therefore we have chosen to specifically exclude reagents from the definition of "device", and are enumerating the types of roles that a reagent can perform. 2013-6-5 MHB: The following clarifications are outcomes of the May 2013 Philly Workshop. Reagents are distinguished from devices that also participate in scientific techniques by the fact that reagents are chemical or biological in nature and necessarily participate in some chemical interaction or reaction during the realization of their experimental role. By contrast, devices do not participate in such chemical reactions/interactions. Note that there are cases where devices use reagent components during their operation, where the reagent-device distinction is less clear. For example: (1) An HPLC machine is considered a device, but has a column that holds a stationary phase resin as an operational component. This resin qualifies as a device if it participates purely in size exclusion, but bears a reagent role that is realized in the running of a column if it interacts electrostatically or chemically with the evaluant. The container the resin is in (“the column”) considered alone is a device. So the entire column as well as the entire HPLC machine are devices that have a reagent as an operating part. (2) A pH meter is a device, but its electrode component bears a reagent role in virtue of its interacting directly with the evaluant in execution of an assay. (3) A gel running box is a device that has a metallic lead as a component that participates in a chemical reaction with the running buffer when a charge is passed through it. This metallic lead is considered to have a reagent role as a component of this device realized in the running of a gel. In the examples above, a reagent is an operational component of a device, but the device itself does not realize a reagent role (as bearing a reagent role is not transitive across the part_of relation). In this way, the asserted disjointness between a reagent and device holds, as both roles are never realized in the same bearer during execution of an assay. 2012-12-17 JAO: In common lab usage, there is a distinction made between devices and reagents that is difficult to model. Therefore we have chosen to specifically exclude reagents from the definition of "device", and are enumerating the types of roles that a reagent can perform. 2013-6-5 MHB: The following clarifications are outcomes of the May 2013 Philly Workshop. Reagents are distinguished from devices that also participate in scientific techniques by the fact that reagents are chemical or biological in nature and necessarily participate in some chemical interaction or reaction during the realization of their experimental role. By contrast, devices do not participate in such chemical reactions/interactions. Note that there are cases where devices use reagent components during their operation, where the reagent-device distinction is less clear. For example: (1) An HPLC machine is considered a device, but has a column that holds a stationary phase resin as an operational component. This resin qualifies as a device if it participates purely in size exclusion, but bears a reagent role that is realized in the running of a column if it interacts electrostatically or chemically with the evaluant. The container the resin is in (“the column”) considered alone is a device. So the entire column as well as the entire HPLC machine are devices that have a reagent as an operating part. (2) A pH meter is a device, but its electrode component bears a reagent role in virtue of its interacting directly with the evaluant in execution of an assay. (3) A gel running box is a device that has a metallic lead as a component that participates in a chemical reaction with the running buffer when a charge is passed through it. This metallic lead is considered to have a reagent role as a component of this device realized in the running of a gel. In the examples above, a reagent is an operational component of a device, but the device itself does not realize a reagent role (as bearing a reagent role is not transitive across the part_of relation). In this way, the asserted disjointness between a reagent and device holds, as both roles are never realized in the same bearer during execution of an assay. PERSON: Helen Parkinson instrument OBI development call 2012-12-17. device sequence data example of usage: the representation of a nucleotide sequence in FASTA format used for a sequence similarity search. A measurement datum that representing the primary structure of a macromolecule(it's sequence) sometimes associated with an indicator of confidence of that measurement. Person:Chris Stoeckert GROUP: OBI sequence data dose An organism has been injected 1ml of vaccine A measurement datum that measures the quantity of something that may be administered to an organism or that an organism may be exposed to. Quantities of nutrients, drugs, vaccines and toxins are referred to as doses. dose nucleic acid extract An extract that is the output of an extraction process in which nucleic acid molecules are isolated from a specimen. PERSON: Jie Zheng UPenn Group nucleic acid extract nucleic acid sequencer An device that is used to determine the order of nucleotides in nucleic acid sequences. PERSON: Erik Segerdell PERSON: Erik Segerdell nucleic acid sequencer protein sequencer An device that is used to determine the order of amino acids in protein sequences. PERSON: Erik Segerdell PERSON: Erik Segerdell protein sequencer genetically modified material a material entity, organism or cell, that is the output of a genetic transformation process. PERSON: Jie Zheng GROUP: OBI term is proposed by BP on Oct 25, 2010 dev call genetically modified material genetic transformation objective a material transformation objective aims to create genetically modified organism or cell Person: Jie Zheng Person: Jie Zheng suggested to be added by BP and AR during Oct 25, 2010 dev call genetic transformation objective service providing a training course for UCSD employees how to run a DNA sequencer; sequencing a DNA sample provided by a service consumer restricted to non-human samples; giving access to tissue samples in a biobank within OHSU; JAX shipping mice from their colony A planned process in which a service provider performs a task (i.e. a planned process) for a service consumer. Carlo; Matt OBI workshop San Diego 2011 service specimen from organism A specimen that derives from an anatomical part or substance arising from an organism. Examples of tissue specimen include tissue, organ, physiological system, blood, or body location (arm). PERSON: Chris Stoeckert, Jie Zheng tissue specimen MO_954 organism_part specimen from organism material maintenance service model organism colony maintanance A material processing service in which a service provider makes physical modifications to a specified input material, such that at least one of the specified outputs of this process is a modified version of a specified input material. PERSON: Carlo Torniai PERSON: Matthew Brush PERSON: Matthew Brush Here we need to go back to the defintoin of storage process. It has object specification which is material maintenance. Not necessareley a material maintenance is needed in a storage process. material maintenance service material service A service performing DNA sequencing, a service preforming cell analysis. A service performing cell line immortalization A service which has a material entity as specified input and/or specified output. PERSON: Carlo Torniai PERSON: Matthew Brush PERSON: Carlo Torniai material service material analysis service Services performing DNA sequencing or Cell Analysis A service in which a service consumer provides some input material and a service provider performs some analysis of this material to generate data that is returned to the service consumer. PERSON: Carlo Torniai PERSON: Matthew Brush PERSON: Matthew Brush material analysis service material storage service A service that offers liquid nitrogen stroage. A storage service in which a service consumer provides some material as input which a service provider stores and returns as output. PERSON: Carlo Torniai PERSON: Matthew Brush PERSON: Matthew Brush material storage service specimen identifier A CRID symbol denotes a specimen and used to distinguish one specimen from another in an investigation. Person: Chris Stoeckert, Jie Zheng specimen ID NIAID GSCID-BRC metadata working group Specimen ID NIAID GSCID-BRC specimen identifier selection criterion rats should be aged between 6 and 8 weeks and weight between 180-250grams A directive information entity which defines and states a principle of standard by which selection process may take place. Person: Philippe Rocca-Serra selection rule OBI discussion summarized under the following tracker item : http://sourceforge.net/p/obi/obi-terms/678/ selection criterion assay array A device made to be used in an analyte assay for immobilization of substances that bind the analyte at regular spatial positions on a surface. PERSON: Chris Stoeckert, Jie Zheng, Alan Ruttenberg Penn Group assay array secondary cultured cell A cultured cell that has been passaged or derives from a cell that has been passaged in culture. The term 'secondary cell culture' is generally used in biological texts/protocols to refer to any culture following an initial passage. We include it here because there are often a number of passages between a primary culture and the establishment of a stable, homogenous cell line. Such cultures are considered to be 'secondary cultures' but not 'cell lines' during this intermediate passaging/selection period between their derivation from a 'primary cell culture' and derivation into a 'cell line', which is a more specific type of secondary culture. Person: Matthew Brush PERSON: Matthew Brush A secondary cultured cell has been passaged in culture or is a descendant of such a cell that is derived through propagation in culture. secondary cultured cell establishing cell line a process whereby a new type of cell line is created, either through passaging of a primary cell culture to relative genetic stability and compositional homogeneity, or through some experimental modification of an existing cell line to produce a new line with novel characteristics (e.g. immortalization or some other stable genetic modification, or selection of some defined subset). 2013-4-20 MHB: For cases of initial establilshment of a line from a primary culture, successive passaging and/or selection processes can confer increasing degrees of genetic stability and compositional homogeneity as compared to the input primary culture. Historically, many texts consider the first passage as the clearest point to define the beginning of a line. However, in practice it is more often that case that more than one passage, and possibly additional selective techniques, may be required before a culture is deemed to have sufficient stability and homogeneity to be considered cell line. This is the view taken in OBI. Regardless, what is important is that some intentional, experimental step has been taken to establish a more homogenous and stable culture that can be characterized and progatated over time. Person: Matthew Brush PERSON:Matthew Brush establishing cell line Illumina BeadChip An array that consists of 3-micron silica beads that self assemble in microwells on either of two materials: fiber optic bundles or planar silica slides. PERSON: Chris Stoeckert, Jie Zheng, Alan Ruttenberg, Venkat Malladi http://www.illumina.com/technology/beadarray_technology.ilmn Illumina BeadChip specimen repository organization An organization that provides a service to store and distribute specimens PERSON: Chris Stoeckert, Jie Zheng NIAID GSCID-BRC metadata working group Specimen Repository NIAID GSCID-BRC specimen repository organization sequencing facility organization An organization that provides sequence determination service PERSON: Chris Stoeckert, Jie Zheng NIAID GSCID-BRC metadata working group Sequencing Facility NIAID GSCID-BRC sequencing facility organization comment on investigation A textual entity that is about any of the aspects of an investigation worth noting PERSON: Chris Stoeckert, Jie Zheng NIAID GSCID-BRC metadata working group Comments NIAID GSCID-BRC comment on investigation specimen identifier assigned by specimen repository A specimen identifier which is assigned by a specimen repository PERSON: Chris Stoeckert, Jie Zheng NIAID GSCID-BRC metadata working group Specimen Repository Sample ID NIAID GSCID-BRC specimen identifier assigned by specimen repository specimen identifier assigned by sequencing facility A specimen identifier which is assigned by a sequencing facility PERSON: Chris Stoeckert, Jie Zheng NIAID GSCID-BRC metadata working group Sample ID - Sequencing Facility NIAID GSCID-BRC specimen identifier assigned by sequencing facility sequencing service A service provides sequencing service which is the realization of some sequencing such as RNA and DNA sequencing in which the service provider role is realized. Person: Jie Zheng Adpated from 'DNA sequencing service' NIAID GSCID-BRC sequencing service secondary cultured cell population A cultured cell population that is derived through one or more passages in culture. The term 'secondary cell culture' is generally used in biological texts/protocols to refer to any culture of cells following an initial passage. We include it here because there are often a number of passages between a primary culture and the establishment of a stable, homogenous cell line. Such cultures are considered to be 'secondary cultures' but not 'cell lines' during this intermediate passaging/selection period between their derivation from a 'primary cell culture' and derivation into a 'cell line', which is a more specific type of secondary culture. PERSON:Matthew Brush secondary cell culture sample PERSON:Matthew Brush The concept of a 'secondary cultured cell population' covers cell lines as well as cultured cell populations more immediately derived from a primary culture which have yet to achieve adequate genetic stability and compositional homogeneity to be considered a cell line. The extent of the collection of cells in a 'secondary cultured cell population' is restricted only in that all cell members must share a propagation history (ie be derived through a common lineage of passages from an initial culture). Secondary cultured cell populations can be under active culture, stored in a quiescent state for future use, or applied experimentally. secondary cultured cell population cancer cell line An immortal cell line derived from a transformed cell that was part of a malignant tumor. cancer cell line immortalizing cell line transformation a genetic transformation of a cell line cell with transgenic constructs intended to confer the capability for indefinite propagation in culture immortalizing cell line transformation conclusion based on data The conclusion that a gene is upregulated in a tissue sample based on the band intensity in a western blot. The conclusion that a patient has a infection based on measurement of an elevated body temperature and reported headache. The conclusion that there were problems in an investigation because data from PCR and microarray are conflicting. The following are NOT conclusions based on data: data themselves; results from pure mathematics, e.g. "13 is prime". An information content entity that is inferred from data. In the Philly 2013 workshop, we recognized the limitations of "conclusion textual entity", and we introduced this as more general. The need for the 'textual entity' term going forward is up for future debate. Group:2013 Philly Workshop group Group:2013 Philly Workshop group conclusion based on data cell freezing medium A processed material that serves as a liquid vehicle for freezing cells for long term quiescent stroage, which contains chemicls needed to sustain cell viability across freeze-thaw cycles. A processed material that serves as a liquid vehicle for freezing cells for long term quiescent stroage, which contains chemicls needed to sustain cell viability across freeze-thaw cycles. PERSON: Matthew Brush cell freezing medium selection PMID: 24023800. In this study, a set of eleven genes (VATP16, 60 S, UQCC, SMD3, EF1α, UBQ, SAND, GAPDH, ACT, PsaB, PTB2) was evaluated to identify reference genes during the first hours of interaction (6, 12, 18 and 24 hpi) between two V. vinifera genotypes and P. viticola. Two analyses were used for the selection of reference genes: direct comparison of susceptible, Trincadeira, and resistant, Regent, V. vinifera cultivars at 0 h, 6, 12, 18 and 24 hours post inoculation with P. viticola (genotype effect); and comparison of each genotype with mock inoculated samples during inoculation time-course (biotic stress effect). Three statistical methods were used, GeNorm, NormFinder, and BestKeeper, allowing to identify UBQ, EF1α and GAPDH as the most stable genes for the genotype effect. A planned process which results in the creation of group of entity from a larger group by the application of predefined criteria. this term refers to a planned process and therefore is distinct from the notion of 'natural selection', a process covering the operation of natural causes by which those individuals of a species that are best adapted to the environment tend to be preserved and to transmit their characters, while those less adapted die out, so that in the course of generations the degree of adaptation to the environment tends progressively to increase. (as defined by Oxford English Dictionary) Person: Philippe Rocca-Serra selection process OBI selection categorical value specification A value specification that is specifies one category out of a fixed number of nominal categories PERSON:Bjoern Peters categorical value specification value specification The value of 'positive' in a classification scheme of "positive or negative"; the value of '20g' on the quantitative scale of mass. An information content entity that specifies a value within a classification scheme or on a quantitative scale. This term is currently a descendant of 'information content entity', which requires that it 'is about' something. A value specification of '20g' for a measurement data item of the mass of a particular mouse 'is about' the mass of that mouse. However there are cases where a value specification is not clearly about any particular. In the future we may change 'value specification' to remove the 'is about' requirement. PERSON:Bjoern Peters value specification molecular analysis facility organization An analysis facility that includes analysis of molecular metabolites, as well as the various DNAs and RNAs. An organization that provides molecular analysis service. Chris Stoeckert, Helena Ellis MAF NCI BBRB, OBIB NCI BBRB molecular analysis facility organization age of majority inclusion criterion An inclusion criterion that uses the age of majority for a state or institution, where one is generally considered to be an adult, which if met, makes an individual suitable for a given task or participation in a given process. Chris Stoeckert, Helena Ellis NCI BBRB, OBIB NCI BBRB age of majority inclusion criterion chemotherapy treatment exclusion criterion An exclusion criterion that defines whether chemotherapy was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process Chris Stoeckert, Helena Ellis NCI BBRB, OBIB NCI BBRB chemotherapy treatment exclusion criterion radiation treatment exclusion criteria An exclusion criterion that defines whether radiation was received or is being received for a previous or current cancer, which when met, makes an individual unsuitable for a given task or participation in a given process Chris Stoeckert, Helena Ellis NCI BBRB, OBIB NCI BBRB radiation treatment exclusion criteria chemotherapy treatment within the recent past exclusion criterion An exclusion criterion defined by the pathologist is defined as whether the individual received chemotherapy within the last two years. An exclusion criterion that defines whether chemotherapy was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. Chris Stoeckert, Helena Ellis NCI BBRB, OBIB NCI BBRB chemotherapy treatment within the recent past exclusion criterion radiation treatment within the recent past exclusion criterion An exclusion criterion defined by the pathologist is defined as whether the individual received radiation therapy within the last two years. An exclusion criterion that defines whether radiation was received within a certain timeframe, which when met, makes an individual unsuitable for a given task or participation in a given process. Chris Stoeckert, Helena Ellis NCI BBRB, OBIB NCI BBRB radiation treatment within the recent past exclusion criterion BMI range inclusion criterion An important inclusion criterion is for for the individual to have a BMI between 18.5 and 35.0 An inclusion criterion that defines and states a Body Mass Index range, which if met, makes an individual suitable for a given task or participation in a given process. Chris Stoeckert, Helena Ellis NCI BBRB, OBIB NCI BBRB BMI range inclusion criterion blood transfusion exclusion criterion An exclusion criterion that is defined by whether the specimen donor received a whole blood transfusion within 48 hours prior to death. An exclusion criterion that is defined by whether the specimen donor received a whole blood transfusion within a specified time frame prior to death, which if met, makes a specimen donor unsuitable for a given task or participation in a given process. Chris Stoeckert, Helena Ellis NCI BBRB, OBIB NCI BBRB blood transfusion exclusion criterion history of metastatic cancer exclusion criterion An exclusion criterion defined as whether an individual has ever been diagnosed with metastatic cancer (cancer that spread beyond the initial site such as to other organs like brain bone or liver), which if met, makes the individual unsuitable for a given task or participation in a given process. Chris Stoeckert, Helena Ellis NCI BBRB, OBIB NCI BBRB history of metastatic cancer exclusion criterion intravenous drug use exclusion criterion Donor eligibility based on history of intravenous drug abuse in the last 5 years. An exclusion criterion defined as when an individual has a history of intravenous drug abuse for a specific timeframe, which if met, makes the individual unsuitable for a given task or participation in a given process. Chris Stoeckert, Helena Ellis NCI BBRB, OBIB NCI BBRB intravenous drug use exclusion criterion history of sex with someone with a history of blood borne infection exclusion criterion Donor eligibility based on whether the donor has a history of sex with someone who has been diagnosed or at risk for HIV/AIDS and/or HCV and/or HBV in the last 5 years. An exclusion criterion defined as whether an individual has a history of sex with someone who has been diagnosed or at risk for a blood borne infections disease in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. Chris Stoeckert, Helena Ellis NCI BBRB, OBIB NCI BBRB history of sex with someone with a history of blood borne infection exclusion criterion history of sex with someone with a history of intravenous drugs exclusion criterion Donor eligibility based on whether the donor has a history of sex with someone who has used intravenous drugs in the last 5 years. An exclusion criterion defined as whether an individual has a history of sex with someone who has used intravenous drugs in a specified time frame, which if met, makes the individual unsuitable for a given task or participation in a given process. Chris Stoeckert, Helena Ellis NCI BBRB, OBIB NCI BBRB history of sex with someone with a history of intravenous drugs exclusion criterion HIV exclusion criterion An exclusion criterion defined as whether an individual has a history of repeatedly reactive screening assays for HIV-1 or HIV-2 antibody regardless of the results of supplemental assays, which if met, makes the individual unsuitable for a given task or participation in a given process. Chris Stoeckert, Helena Ellis NCI BBRB, OBIB NCI BBRB HIV exclusion criterion exposure to blood borne infectious disease exclusion criterion Donor eligibility based on whether the donor has been exposed to HIV/AIDS. An exclusion criterion defined as whether an individual has been exposed to a blood borne infections disease through needle sticks and/or contact with non-intact skin and/or contact with open wounds and/or contact with mucous membranes, which if met, makes the individual unsuitable for a given task or participation in a given process. Chris Stoeckert, Helena Ellis NCI BBRB, OBIB NCI BBRB exposure to blood borne infectious disease exclusion criterion measurand role A role borne by a material entity and realized in an assay which achieves the objective to measure the magnitude/concentration/amount of the measurand in the entity bearing evaluant role. Person: Alan Ruttenberg, Jie Zheng https://en.wiktionary.org/wiki/measurand https://github.com/obi-ontology/obi/issues/778 measurand role health status inclusion criterion ‘diagnosed with Type 2 diabetes mellitus’, ‘E11.4’, ’not finding of hypertension' An inclusion criterion that defines and states one or more clinically significant bodily components, dispositions, and/or bodily processes of an entity that are inferred from relevant clinical findings or self-reported, which, if met, makes the entity suitable for a given task or participation in a given process. Mathias Brochhausen MIABIS2.0 health status inclusion criterion clinically relevant lifestyle inclusion criterion 'smoking behavior’ An inclusion criterion that defines and states one or more clinically relevant planned processes that a human being actively participates in , which, if met, makes the human being suitable for a given task or participation in a given process. Mathias Brochhausen MIABIS2.0 clinically relevant lifestyle inclusion criterion clinically relevant exposure inclusion criterion 'exposure to cigarette smoke’, ‘exposure to lead through drinking water' An inclusion criterion that defines and states one or more clinically relevant histories of exposure of an entity, which, if met, makes the entity suitable for a given task or participation in a given process. Mathias Brochhausen MIABIS2.0 clinically relevant exposure inclusion criterion gravidity inclusion criterion 'pregnant’, ‘not pregnant' An inclusion criterion that defines and states one or more gravidity statuses of an organism, which, if met, makes the entity suitable for a given task or participation in a given process. Mathias Brochhausen MIABIS2.0 gravidity inclusion criterion defined population inclusion criterion inclusion based on age, sex, and living region (rural area or specified city). An inclusion criterion that is based on fitting within the defined characteristics of a population based study design. Chris Stoeckert, Mathias Brochhausen MIABIS 2.0 920 MIABIS 2.0 defined population inclusion criterion age group inclusion criterion "18-33 years old" An inclusion criterion that defines and states an age bracket which, if met, makes an entity suitable for a given task or participation in a given process. Mathias Brochhausen #839 age group inclusion criterion minimum age value specification A value specifcation that specifies the youngest age when specifying an age range. Mathias Brochhausen minimum age value specification maximum age value specification A value specifcation that specifies the oldest age when specifying an age range. Mathias Brochhausen maximum age value specification use of medication inclusion criterion "received at least 2 days of vancomycin" An inclusion criterion that defines and states a a set of medications, which, if used by an entity, makes that entity suitable for a given task or participation in a given process. Mathias Brochhausen #840 use of medication inclusion criterion hospital patient inclusion criterion "included hospital patients" An inclusion criterion defines that a human being has to be a hospital patient to be suitable for a given task or participation in a given process. Mathias Brochhausen hospital patient inclusion criterion family status inclusion criterion "included married and unmarried patients", "included divorced individuals" An inclusion criterion that defines and states one or more family statuses, which, if met, makes a human being suitable for a given task or participation in a given process. Mathias Brochhausen family status inclusion criterion sex inclusion criterion "included males and females", "included male patients" An inclusion criterion that defines and states one or more sexes which, if met, makes an entity suitable for a given task or participation in a given process. Mathias Brochhausen sex inclusion criterion country of residence inclusion criteria "include US residents" An inclusion criterion that defines and states one or more countries of residence which, if met, makes a human being suitable for a given task or participation in a given process. Mathias Brochhausen country of residence inclusion criteria ethnicity inclusion criterion "include only Hispanic individuals" An inclusion criteria that defines and states one or more ethnicities which, if met, makes an entity suitable for a given task or participation in a given process. Mathias Brochhausen ethnicity inclusion criterion reactant role A role borne by a biological or chemical entity that participates or has molecular components that participate in a chemical reaction. Sebastian Duesing reactant role organism animal fungus plant virus A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. 10/21/09: This is a placeholder term, that should ideally be imported from the NCBI taxonomy, but the high level hierarchy there does not suit our needs (includes plasmids and 'other organisms') 13-02-2009: OBI doesn't take position as to when an organism starts or ends being an organism - e.g. sperm, foetus. This issue is outside the scope of OBI. GROUP: OBI Biomaterial Branch WEB: http://en.wikipedia.org/wiki/Organism http://purl.obolibrary.org/obo/obi.owl organism specimen Biobanking of blood taken and stored in a freezer for potential future investigations stores specimen. A material entity that has the specimen role. Note: definition is in specimen creation objective which is defined as an objective to obtain and store a material entity for potential use as an input during an investigation. PERSON: James Malone PERSON: Philippe Rocca-Serra GROUP: OBI Biomaterial Branch specimen cultured cell population A cultured cell population applied in an experiment: "293 cells expressing TrkA were serum-starved for 18 hours and then neurotrophins were added for 10 min before cell harvest." (Lee, Ramee, et al. "Regulation of cell survival by secreted proneurotrophins." Science 294.5548 (2001): 1945-1948). A cultured cell population maintained in vitro: "Rat cortical neurons from 15 day embryos are grown in dissociated cell culture and maintained in vitro for 8–12 weeks" (Dichter, Marc A. "Rat cortical neurons in cell culture: culture methods, cell morphology, electrophysiology, and synapse formation." Brain Research 149.2 (1978): 279-293). A processed material comprised of a collection of cultured cells that has been continuously maintained together in culture and shares a common propagation history. 2013-6-5 MHB: This OBI class was formerly called 'cell culture', but label changed and definition updated following CLO alignment efforts in spring 2013, during which the intent of this class was clarified to refer to portions of a culture or line rather than a complete cell culture or line. PERSON:Matthew Brush cell culture sample PERSON:Matthew Brush The extent of a 'cultured cell population' is restricted only in that all cell members must share a propagation history (ie be derived through a common lineage of passages from an initial culture). In being defined in this way, this class can be used to refer to the populations that researchers actually use in the practice of science - ie are the inputs to culturing, experimentation, and sharing. The cells in such populations will be a relatively uniform population as they have experienced similar selective pressures due to their continuous co-propagation. And this population will also have a single passage number, again owing to their common passaging history. Cultured cell populations represent only a collection of cells (ie do not include media, culture dishes, etc), and include populations of cultured unicellular organisms or cultured multicellular organism cells. They can exist under active culture, stored in a quiescent state for future use, or applied experimentally. cultured cell population genetically modified organism A protocol for removal of antibiotic resistance cassettes from human embryonic stem cells genetically modified by homologous recombination or transgenesis. Nat Protoc. 2008;3(10):1550-8. PMID: 18802436 an organism that is the output of a genetic transformation process PERSON: Philippe Rocca-Serra OBI Biomaterial genetically modified organism extraction nucleic acid extraction using phenol chloroform A material separation in which a desired component of an input material is separated from the remainder Current the output of material processing defined as the molecular entity, main component in the output material entity, rather than the material entity that have grain molecular entity. 'nucleic acid extract' is the output of 'nucleic acid extraction' and has grain 'nucleic acid'. However, the output of 'nucleic acid extraction' is 'nucleic acid' rather than 'nucleic acid extract'. We are aware of this issue and will work it out in the future. Person:Bjoern Peters Philippe Rocca-Serra extraction storage PMID: 18550121.Total Prostate Specific Antigen Stability Confirmed After Long-Term Storage of Serum at -80C. J Urol. 2008 Jun 10. A maintenance process by which material entities that are not actively metabolizing are placed in well identified location and possibly under controlled environment in ad-hoc devices/structures in order to preserve and protect them from decay/alteration and maintain availability Philippe Rocca-Serra OBI-Branch storage DNA sequencer ABI 377 DNA Sequencer, ABI 310 DNA Sequencer A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences. Trish Whetzel MO DNA sequencer study design a matched pairs study design describes criteria by which subjects are identified as pairs which then undergo the same protocols, and the data generated is analyzed by comparing the differences between the paired subjects, which constitute the results of the executed study design. A plan specification comprised of protocols (which may specify how and what kinds of data will be gathered) that are executed as part of an investigation and is realized during a study design execution. Editor note: there is at least an implicit restriction on the kind of data transformations that can be done based on the measured data available. PERSON: Chris Stoeckert experimental design rediscussed at length (MC/JF/BP). 12/9/08). The definition was clarified to differentiate it from protocol. study design eligibility criterion PMID: 17579629 -Eligibility criteria included: untreated ED-SCLC; age >/=70 and performance status 0-2, or age <70 and PS 3. an eligibility criterion (rule) is_a selection criterion which defines and states the requirements (positive or negative) for an entity to be considered as suitable for a given task or participation in a process. Person: Philippe Rocca-Serra eligibility rule Adapted from Clinical Research Glossary Version 4.0 CDICS glossary group eligibility criterion inclusion criterion PMID: 23979341-The major inclusion criterion was patients in whom severe cerebral embolism was diagnosed at age 75 or younger (more than 9 in the NIHSS score on day 7 after the onset of stroke) . an inclusion criterion (rule) is_a *eligibility criterion* which defines and states a condition which, if met, makes an entity suitable for a given task or participation in a given process. For instance, in a study protocol, inclusion criteria indicate the conditions that prospective subjects MUST meet to be eligible for participation in a study. Person: Philippe Rocca-Serra inclusion condition inclusion rule Adapted from Clinical Research Glossary Version 4.0 CDICS glossary group inclusion criterion exclusion rule PMID: 17600285-Exclusion criteria included the use of any topical ophthalmic or topical oral medication and/or history of ocular or oral surgery within the past six months. an exclusion criterion (rule) is_a *eligibility criterion* which defines and states a condition which, if met, makes an entity unsuitable for a given task or participation in a given process. For instance, in a study protocol, exclusion criteria indicate the conditions that prospective subjects SHOULD NOT meet to be eligible for participation in a study Person: Philippe Rocca-Serra Adapted from Clinical Research Glossary Version 4.0 CDICS glossary group exclusion criterion human subject enrollment enlisting familiy members of HIV patients into a study A planned process with the objective to obtain a population of human subjects to participate in an investigation by determining eligibility of subjects and obtaining informed consent. As with group assignment, should the specified output here be an organism which bears a role Bjoern Peters IEDB criteria come from plan / clinical trial branch human subject enrollment collecting specimen from organism taking a sputum sample from a cancer patient, taking the spleen from a killed mouse, collecting a urine sample from a patient a process with the objective to obtain a material entity that was part of an organism for potential future use in an investigation PERSON:Bjoern Peters IEDB collecting specimen from organism administering substance in vivo Balb/c mice received an intracameral or subconjunctival injection of trinitrophenylated spleen cells injecting mice with 10 ug morphine intranasally, a patient taking two pills of 1 mg aspirin orally A process by which a substance is intentionally given to an organism resulting in exposure of the organism to that substance. 2009-11-10. Tracker: https://sourceforge.net/tracker/?func=detail&aid=2893050&group_id=177891&atid=886178 Different routes and means of administration should go as children underneath this Update the definition based on the discussion. Details see the tracker: https://sourceforge.net/p/obi/obi-terms/738/ needs roles such as perturber and perturbee (children of input role). Perturb is too strong. Host might be the name for one role. Others considered: Doner, Donated, Acceptor. Bjoern Peters Person:Bjoern Peters IEDB administering substance in vivo material component separation Using a cell sorter to separate a mixture of T cells into two fractions; one with surface receptor CD8 and the other lacking the receptor, or purification a material processing in which components of an input material become segregated in space Bjoern Peters IEDB material component separation maintaining cell culture When harvesting blood from a human, isolating T cells, and then limited dilution cloning of the cells, the maintaining_cell_culture step comprises all steps after the initial dilution and plating of the cells into culture, e.g. placing the culture into an incubator, changing or adding media, and splitting a cell culture A planned process with the objective to keep cells alive in a defined environment outside of an organism. a protocol application in which cells are kept alive in a defined environment outside of an organism. part of cell_culturing PlanAndPlannedProcess Branch OBI branch derived maintaining cell culture 'establishing cell culture' a process through which a new type of cell culture or cell line is created, either through the isolation and culture of one or more cells from a fresh source, or the deliberate experimental modification of an existing cell culture (e.g passaging a primary culture to become a secondary culture or line, or the immortalization or stable genetic modification of an existing culture or line). PERSON:Matthew Brush PERSON:Matthew Brush A 'cell culture' as used here referes to a new lineage of cells in culture deriving from a single biological source.. New cultures are established through the initial isolation and culturing of cells from an organismal source, or through changes in an existing cell culture or line that result in a new culture with unique characteristics. This can occur through the passaging/selection of a primary culture into a secondary culture or line, or experimental modifications of an existing cell culture or line such as an immortalization process or other stable genetic modification. This class covers establishment of cultures of either multicellular organism cells or unicellular organisms. establishing cell culture cell culture splitting The act of taking a cell culture of high density, counting the cells, removing part of the cells, and re-seeding a select number of the cells into new flasks with fresh tissue culture media. The act of taking part of a homogeneous cell culture and creating one or more additional separate cultures of similar qualities. input: cell_culture, output cell_culture min cardinality 2. part of cell culturing PlanAndPlannedProcess Branch cell culture passaging OBI branch derived An active cell culture is typically split when it has grown to confluence in its culture dish. Cell culture splitting of a cell culture sample results in an increase in its passage number, which measures how long a sample has been propagated in vitro, and therefore how many selective or genetic changes it is likely to have undergone. cell culture splitting genetic transformation The transduction of E. coli through the introduction of a plasmid encoding for M. avium p35 the introduction. alteration or integration of genetic material into a cell or organism PERSON:Kevin Clancy genetic modification OBI branch derived genetic transformation sequencing assay The use of the Sanger method of DNA sequencing to determine the order of the nucleotides in a DNA template An assay the uses chemical or biochemical means to infer the sequence of a biomaterial PlanAndPlannedProcess Branch OBI branch derived sequencing assay nucleic acid extraction Phenol / chlorophorm extraction disolvation of protein content folllowed by ethanol precipitation of the nucleic acid fraction over night in the fridge followed by centrifugation to obtain a nucleic acid pellet. a material separation to recover the nucleic acid fraction of an input material PlanAndPlannedProcess Branch OBI branch derived requested by Helen Parkinson for MO. Could be defined class nucleic acid extraction adaptive immune receptor is a receptor produced by cells of the adaptive immune system with the purpose of binding epitopes. IEDB IEDB adaptive immune receptor bodily fluid specimen A specimen that is derived from some bodily fluid Christian Stoeckert ORCID:0000-0002-5714-991X Mark A. Miller ORCID:0000-0001-9076-6066 Christian Stoeckert ORCID:0000-0002-5714-991X Mark A. Miller ORCID:0000-0001-9076-6066 bodily fluid specimen A genome is a material entity that represents the entirety of an organism's hereditary information. The genome includes both the genes and the non-coding sequences of the DNA and RNA. Oliver He Book: Eugene Nester, Denise Anderson, C. Evans Roberts, Jr., Microbiology (Companion Site): A Human Perspective, 7th Edition. Mcgraw Hill, October 18, 2011. ISBN-13: 978-0073375311 WEB: http://en.wikipedia.org/wiki/Genome genome A gene is a material entity that represents the entire DNA sequence required for synthesis of a functional protein or RNA molecule. Oliver He WEB: http://www.ncbi.nlm.nih.gov/books/NBK21640/ In addition to the coding regions (exons), a gene includes transcription-control regions and sometimes introns. Although the majority of genes encode proteins, some encode tRNAs, rRNAs, and other types of RNA. gene a disposition that a gene can be used as a blueprint for generating a new form of product such as protein. Yongqun He WEB: http://www.ncbi.nlm.nih.gov/IEB/ToolBox/CPP_DOC/lxr/source/src/objects/entrezgene/entrezgene.asn YH: According to NCBI Gene project, there are two gene types: unknown (0) , tRNA (1) , rRNA (2) , snRNA (3) , scRNA (4) , snoRNA (5) , protein-coding (6) , pseudo (7) , transposon (8) , miscRNA (9) , ncRNA (10) , other (255). Therefore, we have generated corresponding gene dispositions. Note that we don't use the term "gene type" here to differentiate the meanings of "type" and "disposition". gene disposition a gene disposition that a gene can be used as a blueprint for generating a protein (i.e., a gene encodes for a protein). Yongqun He WEB: http://www.ncbi.nlm.nih.gov/IEB/ToolBox/CPP_DOC/lxr/source/src/objects/entrezgene/entrezgene.asn protein-coding gene disposition a gene disposition that is the disposition of a gene that encodes for a tRNA. Yongqun He, Bin Zhao WEB: http://www.ncbi.nlm.nih.gov/IEB/ToolBox/CPP_DOC/lxr/source/src/objects/entrezgene/entrezgene.asn RNA gene disposition a RNA gene disposition that is for a gene that encodes for a ncRNA. Yongqun He WEB: http://www.ncbi.nlm.nih.gov/IEB/ToolBox/CPP_DOC/lxr/source/src/objects/entrezgene/entrezgene.asn ncRNA gene disposition a gene disposition that is "other", i.e., the gene is for a gene product that is not listed for another other gene type. Note: The other gene disposition originates from automated generation using terms imported from the NCBI Gene resource (http://www.ncbi.nlm.nih.gov/books/NBK3841/ ). However the use of such an information-related term is not fully compliant with the Foundry Principles. Before we can find a better solution, we will for now keep them in the OGG. Yongqun He WEB: http://www.ncbi.nlm.nih.gov/IEB/ToolBox/CPP_DOC/lxr/source/src/objects/entrezgene/entrezgene.asn other gene disposition The genome of an organism of Bacteria Yue Liu, Bin Zhao, Oliver He 2 genome of Bacteria The genome of an organism of Proteobacteria Yue Liu, Bin Zhao, Oliver He 1224 genome of Proteobacteria The genome of an organism of Gammaproteobacteria Yue Liu, Bin Zhao, Oliver He 1236 genome of Gammaproteobacteria The genome of an organism of Eukaryota Yue Liu, Bin Zhao, Oliver He 2759 genome of Eukaryota The genome of an organism of Homo sapiens Yue Liu, Bin Zhao, Oliver He 9606 genome of Homo sapiens The genome of an organism of Pseudomonas aeruginosa PAO1 Yue Liu, Bin Zhao, Oliver He 208964 genome of Pseudomonas aeruginosa PAO1 A gene of an organism of Bacteria Yue Liu, Bin Zhao, Oliver He 2 gene of Bacteria A gene of an organism of Proteobacteria Yue Liu, Bin Zhao, Oliver He 1224 gene of Proteobacteria A gene of an organism of Gammaproteobacteria Yue Liu, Bin Zhao, Oliver He 1236 gene of Gammaproteobacteria A gene of an organism of Eukaryota Yue Liu, Bin Zhao, Oliver He 2759 gene of Eukaryota A gene of an organism of Homo sapiens Yue Liu, Bin Zhao, Oliver He 9606 gene of Homo sapiens A gene of an organism of Pseudomonas aeruginosa PAO1 Yue Liu, Bin Zhao, Oliver He 208964 gene of Pseudomonas aeruginosa PAO1 A gene of Homo sapiens that has a protein-coding gene disposition Bin Zhao, Oliver He 9606 protein-coding gene of Homo sapiens A gene of Pseudomonas aeruginosa PAO1 that has a protein-coding gene disposition Bin Zhao, Oliver He 208964 protein-coding gene of Pseudomonas aeruginosa PAO1 A gene of Homo sapiens that has a ncRNA gene disposition Bin Zhao, Oliver He 9606 ncRNA gene of Homo sapiens A gene of Homo sapiens that has a RNA gene disposition Bin Zhao, Oliver He 9606 RNA gene of Homo sapiens A gene of Homo sapiens that has a other gene disposition Bin Zhao, Oliver He 9606 gene of Homo sapiens with other gene disposition Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene ACR acrosin 49 22q13.33 20140408 9606 22 protein-coding Official from a nomenclature committee GO_0002077 (EC: NAS, PMID: 10418103); GO_0003677 (EC: NAS, PMID: 1937464); GO_0004040 (EC: ISS); GO_0004252 (EC: IDA, PMID: 6802470); GO_0005507 (EC: NAS, PMID: 6815104); GO_0005515 (EC: IPI, PMID: 15950651); GO_0005537 (EC: IDA, PMID: 15950652); GO_0005576 (EC: TAS); GO_0005798 (EC: IEA); GO_0007190 (EC: IDA, PMID: 3880736); GO_0007338 (EC: ISS); GO_0007338 (EC: TAS); GO_0007339 (EC: IEA); GO_0007340 (EC: IMP, PMID: 2550339); GO_0007340 (EC: TAS); GO_0007341 (EC: IDA, Qualifier: NOT, PMID: 10369396); GO_0008144 (EC: ISS); GO_0008270 (EC: NAS, PMID: 6815104); GO_0032504 (EC: TAS); GO_0042806 (EC: ISS); GO_0043159 (EC: TAS, PMID: 12398221); GO_0043234 (EC: IDA, PMID: 7521127); GO_0048545 (EC: IEA) PMID: 1628652; 1783391; 1907596; 1937464; 2114285; 2298447; 2493394; 2550339; 2606479; 3880736; 6357995; 6802470; 6815104; 7521127; 10369396; 10418103; 10734459; 11076863; 11739644; 11839395; 12398221; 12477932; 12801583; 12931362; 15461802; 15782160; 15950651; 15950652; 15955892; 16344560; 22452365; 22990118; 23297503; 23675907 acrosin Other designations: acrosin light and heavy chain prepropeptide|preproacrosin|proacrosin ACR Bin Zhao, Yue Liu, Oliver He ACTA ASMA CFTD CFTD1 CFTDM MPFD NEM1 NEM2 NEM3 WEB: http://www.ncbi.nlm.nih.gov/gene ACTA1 actin, alpha 1, skeletal muscle 58 RP5-1068B5.2 1q42.13 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001725 (EC: IDA, PMID: 15198992); GO_0005200 (EC: TAS, PMID: 10508519); GO_0005515 (EC: IPI, PMID: 12849983); GO_0005524 (EC: TAS, PMID: 10508519); GO_0005615 (EC: IDA); GO_0005829 (EC: TAS); GO_0005865 (EC: IDA, PMID: 15198992); GO_0005884 (EC: IDA, PMID: 12849983); GO_0006936 (EC: TAS, PMID: 10508519); GO_0009612 (EC: IEA); GO_0009991 (EC: IEA); GO_0010226 (EC: IEA); GO_0015629 (EC: IMP, PMID: 15198992); GO_0016049 (EC: IEA); GO_0017022 (EC: TAS, PMID: 10508519); GO_0030017 (EC: IDA, PMID: 1423520); GO_0030049 (EC: TAS); GO_0030240 (EC: IMP, PMID: 11333380); GO_0043503 (EC: IEA); GO_0043531 (EC: TAS, PMID: 10508519); GO_0048545 (EC: IEA); GO_0048741 (EC: ISS); GO_0070062 (EC: IDA, PMID: 19199708); GO_0072562 (EC: IDA) PMID: 648524; 1074709; 1383230; 1423520; 1540415; 1544421; 1808202; 1907279; 1991513; 2161834; 2395459; 2455687; 2907503; 2936753; 3793760; 3842206; 6190133; 6865942; 6893424; 7503723; 7642559; 7680654; 7703225; 7780165; 7816144; 7820861; 7908020; 7908614; 8258301; 8395021; 8399167; 8413665; 8416954; 8422497; 8567732; 8612804; 8997639; 8999969; 9153421; 9199170; 9214391; 9251807; 9298982; 9417078; 9490638; 9512503; 9645951; 9668039; 9695962; 9724539; 9792688; 9832551; 9841925; 9852149; 10072583; 10224093; 10320340; 10366597; 10438535; 10491393; 10508519; 10556093; 10559237; 10564664; 10575001; 10581178; 10583954; 10601340; 10628374; 10666339; 10793131; 10806479; 10882740; 10958653; 10984435; 11018051; 11027608; 11053353; 11071908; 11090452; 11102443; 11106625; 11166164; 11171322; 11259305; 11297527; 11309382; 11333380; 11415434; 11429692; 11438522; 11441066; 11461920; 11468283; 11481347; 11524436; 11536049; 11580270; 11583571; 11687588; 11691822; 11701614; 11702052; 11707283; 11795944; 11812134; 11821948; 11839310; 11850458; 11877456; 11889126; 11897493; 11950878; 11969288; 12006649; 12033495; 12044158; 12048248; 12062430; 12119014; 12127568; 12163017; 12210873; 12383268; 12384700; 12388543; 12417592; 12417594; 12438125; 12438242; 12466270; 12475945; 12477932; 12480535; 12534372; 12554937; 12571245; 12665555; 12695497; 12714565; 12721663; 12849983; 12857853; 14506234; 14507647; 14532270; 14576350; 14592989; 14594945; 14634002; 14640694; 14668487; 14676314; 14684598; 14688263; 14690596; 14694110; 14702039; 14966270; 15059972; 15072110; 15107502; 15149849; 15152255; 15198992; 15236405; 15336687; 15454575; 15468086; 15489334; 15494313; 15507486; 15520409; 15558034; 15679046; 15772115; 16009940; 16051665; 16427282; 16461343; 16501887; 16526095; 16568092; 16751776; 16916647; 16945536; 17010111; 17082770; 17194691; 17194709; 17203973; 17266347; 17360745; 17361185; 17387733; 17411366; 17504171; 17573780; 17620599; 18063690; 18443296; 18461503; 18662664; 18775311; 18781797; 18976909; 19002257; 19150851; 19199708; 19233165; 19380743; 19383239; 19389844; 19454010; 19553474; 19562689; 19634497; 19635823; 19639585; 19710135; 19819966; 19883584; 19934221; 19948975; 20100475; 20147394; 20169155; 20179953; 20201926; 20301436; 20301465; 20305087; 20332100; 20378355; 20388088; 20391533; 20452215; 20630939; 20639865; 20686692; 20716950; 20718862; 20809254; 20826790; 20972266; 21079800; 21080425; 21108927; 21139048; 21145461; 21151833; 21199870; 21203488; 21319273; 21340023; 21385873; 21464227; 21514153; 21606541; 21691712; 21723825; 21764995; 21824169; 21890473; 21906983; 21912905; 21917091; 21923909; 21931536; 21963094; 21975552; 21987572; 21994736; 22004035; 22017400; 22028271; 22031939; 22053931; 22081313; 22209233; 22362758; 22465675; 22505724; 22535526; 22537596; 22863883; 22989508; 23000965; 23042265; 23071671; 23174700; 23176180; 23190606; 23246001; 23247112; 23376163; 23420843; 23656990; 23831272; 24255178; 24313005 actin, alpha 1, skeletal muscle Ensembl:ENSG00000143632 HGNC:129 HPRD:00030 MIM:102610 Vega:OTTHUMG00000038006 Other designations: actin, alpha skeletal muscle|nemaline myopathy type 3 ACTA1 Bin Zhao, Yue Liu, Oliver He AAT6 ACTSA MYMY5 WEB: http://www.ncbi.nlm.nih.gov/gene ACTA2 actin, alpha 2, smooth muscle, aorta 59 GIG46 10q23.3 20140408 9606 10 protein-coding Official from a nomenclature committee GO_0005524 (EC: IEA); GO_0005615 (EC: IDA); GO_0005737 (EC: IDA, PMID: 12355421); GO_0005829 (EC: TAS); GO_0006936 (EC: TAS); GO_0008217 (EC: IEA); GO_0009615 (EC: IEP, PMID: 16548883); GO_0014829 (EC: IEA); GO_0015629 (EC: IEA); GO_0030485 (EC: IEA); GO_0043234 (EC: IDA, PMID: 18468998); GO_0072144 (EC: IEP, PMID: 17464107) PMID: 1540415; 1555776; 1907279; 1939373; 1969628; 1991513; 2022339; 2295650; 2398629; 2612915; 2701935; 3842206; 6330528; 6725286; 7780165; 8138584; 8997639; 9512352; 9546431; 9841925; 10341211; 10556093; 10628374; 11037796; 11580270; 11707283; 11812134; 12119014; 12355421; 12477932; 12777385; 14530271; 14627618; 14694110; 15032605; 15164054; 15342556; 15489334; 15555551; 15588509; 15618548; 15703204; 15862967; 16051665; 16115228; 16289162; 16385451; 16526095; 16548883; 16573163; 17360745; 17411366; 17464107; 17504171; 17626241; 17786474; 17994018; 18443296; 18468998; 18775311; 18781797; 19261809; 19285011; 19409525; 19531499; 19639585; 19639654; 19654303; 19683985; 19745835; 19788615; 19883584; 19913121; 20128380; 20132408; 20147394; 20237496; 20301299; 20381122; 20618440; 20628086; 20628268; 20639865; 20689142; 20694011; 20734336; 20876399; 20970362; 20972266; 21131735; 21139048; 21145461; 21212136; 21233699; 21248741; 21288906; 21343850; 21477997; 21496259; 21530503; 21553326; 21612641; 21617610; 21815248; 21890473; 21906983; 21917091; 21923909; 21937134; 21937873; 21963094; 21987572; 21996542; 22001912; 22004035; 22053931; 22133903; 22138123; 22232431; 22395512; 22460095; 22465675; 22479424; 22505724; 22535526; 22543453; 22619371; 22790431; 22810585; 22831780; 22939629; 22946110; 22960022; 22989508; 23000965; 23020218; 23068445; 23116162; 23182716; 23246001; 23770605; 23788249; 23794425; 23982059; 24244333 actin, alpha 2, smooth muscle, aorta Ensembl:ENSG00000107796 HGNC:130 HPRD:00031 MIM:102620 Vega:OTTHUMG00000018700 Other designations: actin, aortic smooth muscle|alpha-cardiac actin|cell growth-inhibiting gene 46 protein ACTA2 Bin Zhao, Yue Liu, Oliver He ACTININ-4 FSGS FSGS1 WEB: http://www.ncbi.nlm.nih.gov/gene ACTN4 actinin, alpha 4 81 19q13 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0001666 (EC: IEA); GO_0001725 (EC: IEA); GO_0001882 (EC: IDA, PMID: 12411747); GO_0002576 (EC: TAS); GO_0003779 (EC: TAS, PMID: 8104223); GO_0005178 (EC: TAS, PMID: 8104223); GO_0005509 (EC: IEA); GO_0005515 (EC: IPI, PMID: 15619032); GO_0005576 (EC: TAS); GO_0005634 (EC: IDA, PMID: 9508771); GO_0005737 (EC: IDA, PMID: 9508771); GO_0005911 (EC: IEA); GO_0007596 (EC: TAS); GO_0015031 (EC: IEA); GO_0030018 (EC: IEA); GO_0030168 (EC: TAS); GO_0030529 (EC: IDA, PMID: 17289661); GO_0030863 (EC: IEA); GO_0031093 (EC: TAS); GO_0031143 (EC: TAS, PMID: 1629252); GO_0032417 (EC: NAS, PMID: 11948184); GO_0042803 (EC: TAS, PMID: 15841212); GO_0042981 (EC: NAS, PMID: 16807302); GO_0043005 (EC: IEA); GO_0043234 (EC: IDA, PMID: 11948184); GO_0044822 (EC: IDA); GO_0047485 (EC: IEA); GO_0048471 (EC: IDA, PMID: 15619032); GO_0048549 (EC: IEA); GO_0051015 (EC: IDA, PMID: 12411747); GO_0051017 (EC: IEA); GO_0051271 (EC: IEA); GO_0051272 (EC: IDA, PMID: 9508771); GO_0051272 (EC: IMP, PMID: 15048094); GO_0070062 (EC: IDA, PMID: 19199708); GO_0070830 (EC: IEA) PMID: 1602151; 1629252; 2116421; 8104223; 9461087; 9508771; 10556093; 10656685; 10673389; 10700177; 10753915; 10915794; 11160423; 11358829; 11382784; 11707406; 11724819; 11733011; 11739652; 11882289; 11948184; 12042308; 12093915; 12202484; 12411747; 12477932; 12617336; 12837758; 12960352; 14630798; 15048094; 15070900; 15152255; 15342556; 15489334; 15493875; 15588985; 15592455; 15619032; 15772161; 15780077; 15841212; 16009940; 16189514; 16196087; 16204054; 16212417; 16251236; 16341674; 16344560; 16396496; 16713569; 16751776; 16807302; 16944923; 16951376; 16980305; 17018644; 17289661; 17370265; 17438131; 17873890; 17901210; 17955473; 17968527; 18029348; 18164029; 18180332; 18215660; 18362906; 18436095; 18552466; 18726620; 18765526; 18781797; 19142020; 19151661; 19199708; 19322201; 19357256; 19380743; 19447967; 19666657; 19672209; 19738201; 19805454; 19913121; 19913389; 19920151; 19956976; 20037648; 20156433; 20197409; 20201926; 20391533; 20448150; 20519146; 20628086; 20819441; 20936779; 21078624; 21078666; 21081666; 21139048; 21163940; 21234524; 21408150; 21655212; 21680739; 21800051; 21890413; 21890473; 21906983; 21963094; 21987572; 21988832; 22079093; 22178446; 22252987; 22348389; 22351778; 22370640; 22567897; 22586326; 22623428; 22797925; 22825873; 22863883; 22908231; 22939629; 22965004; 23000411; 23000965; 23085994; 23182705; 23454549; 23463506; 23466492; 23482348; 23557398; 23583979; 23689571; 23711888; 23793025; 23810014; 23862649; 24250222 actinin, alpha 4 HGNC:166 HPRD:05222 MIM:604638 Other designations: F-actin cross-linking protein|actinin alpha4 isoform|alpha-actinin-4|focal segmental glomerulosclerosis 1|non-muscle alpha-actinin 4 ACTN4 Bin Zhao, Yue Liu, Oliver He AC3 WEB: http://www.ncbi.nlm.nih.gov/gene ADCY3 adenylate cyclase 3 109 2p23.3 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0004016 (EC: IEA); GO_0005516 (EC: IEA); GO_0005524 (EC: IEA); GO_0005737 (EC: IDA, PMID: 11549699); GO_0005886 (EC: IDA, PMID: 11549699); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 9920776); GO_0005929 (EC: IEA); GO_0006112 (EC: TAS); GO_0006833 (EC: TAS); GO_0007165 (EC: TAS); GO_0007173 (EC: TAS); GO_0007189 (EC: TAS); GO_0007193 (EC: TAS); GO_0007202 (EC: TAS); GO_0007268 (EC: TAS); GO_0007608 (EC: IEA); GO_0008543 (EC: TAS); GO_0034199 (EC: TAS); GO_0035556 (EC: IEA); GO_0044281 (EC: TAS); GO_0045087 (EC: TAS); GO_0046872 (EC: IEA); GO_0048011 (EC: TAS); GO_0055085 (EC: TAS); GO_0071377 (EC: TAS) PMID: 2165385; 7937899; 7959689; 8034296; 8476432; 8663304; 8798667; 9417641; 9628581; 9768837; 9920776; 10089566; 10807185; 10808179; 11162902; 11299302; 11549699; 11884542; 12122055; 12477932; 12503609; 12623444; 12626323; 12782409; 14702039; 14993377; 15489334; 15815621; 16303743; 16344560; 17581954; 17586501; 17895882; 18391951; 19576885; 20201924; 20467438; 20935630; 21042317; 21079816; 21139048; 21890473; 21906983; 21963094; 21980299; 22344219; 22681560; 23077041; 23128233; 23449627; 23517042; 23563607; 23583978 adenylate cyclase 3 Ensembl:ENSG00000138031 HGNC:234 HPRD:02620 MIM:600291 Vega:OTTHUMG00000094765 Other designations: AC-III|ATP pyrophosphate-lyase 3|adenylate cyclase type 3|adenylate cyclase type III|adenylate cyclase, olfactive type|adenylyl cyclase 3|adenylyl cyclase, type III ADCY3 Bin Zhao, Yue Liu, Oliver He ADRA1C ADRA1L1 ALPHA1AAR WEB: http://www.ncbi.nlm.nih.gov/gene ADRA1A adrenoceptor alpha 1A 148 8p21.2 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0001985 (EC: IEA); GO_0001994 (EC: IEA); GO_0001996 (EC: IEA); GO_0001997 (EC: IEA); GO_0003084 (EC: IEA); GO_0004937 (EC: ISS); GO_0004937 (EC: NAS, PMID: 9490024); GO_0004937 (EC: TAS, PMID: 7737411); GO_0005634 (EC: IDA); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 8396931); GO_0006915 (EC: TAS, PMID: 10671514); GO_0006939 (EC: TAS, PMID: 8183249); GO_0007165 (EC: TAS, PMID: 8396931); GO_0007186 (EC: TAS, PMID: 10860850); GO_0007200 (EC: IEA); GO_0007202 (EC: ISS); GO_0007204 (EC: ISS); GO_0007267 (EC: TAS, PMID: 8396931); GO_0007512 (EC: IEA); GO_0007568 (EC: ISS); GO_0008285 (EC: TAS, PMID: 10860850); GO_0009725 (EC: ISS); GO_0016049 (EC: IEA); GO_0030018 (EC: IEA); GO_0030315 (EC: IEA); GO_0031965 (EC: IDA); GO_0032229 (EC: ISS); GO_0035024 (EC: ISS); GO_0035265 (EC: IEA); GO_0035556 (EC: TAS, PMID: 10671514); GO_0042493 (EC: ISS); GO_0043410 (EC: IDA); GO_0045760 (EC: ISS); GO_0045907 (EC: ISS); GO_0045987 (EC: IEA); GO_0046982 (EC: IDA); GO_0060073 (EC: IEA); GO_0060402 (EC: ISS); GO_0060452 (EC: ISS); GO_0070374 (EC: ISS); GO_0071875 (EC: ISS); GO_0071875 (EC: NAS, PMID: 9490024); GO_0071875 (EC: TAS, PMID: 10860850); GO_0090037 (EC: ISS); GO_0097195 (EC: IEA) PMID: 1363873; 1970822; 7737411; 7805763; 7815325; 8024574; 8183249; 8396931; 8564208; 8832064; 9359081; 9490024; 10334511; 10493934; 10587338; 10671514; 10860850; 11154706; 11425010; 12184796; 12409310; 12477932; 12519093; 12544508; 12707939; 12782672; 14626446; 15136785; 15179408; 15297446; 15474515; 15525470; 15626751; 15824464; 15917235; 15946947; 16043131; 16153395; 16536786; 16633140; 16645408; 16685204; 16690783; 16754659; 16823803; 17075692; 17408692; 17556657; 17655760; 17681068; 17972277; 17973108; 18240029; 18257748; 18331634; 18351393; 18413308; 18523139; 18524654; 18821565; 18996102; 19011682; 19086053; 19095219; 19102884; 19105822; 19322003; 19352218; 19444285; 19476811; 19520158; 19565482; 19730237; 19763272; 19874574; 19913121; 19918262; 19919991; 20004544; 20044737; 20129829; 20173430; 20379614; 20628086; 20705341; 21063774; 21223784; 21262225; 21519279; 21571945; 21738688; 21792097; 21982020; 22037178; 22089237; 22091949; 22952603; 23460120; 23717684; 23902938 adrenoceptor alpha 1A Ensembl:ENSG00000120907 HGNC:277 HPRD:00081 MIM:104221 Vega:OTTHUMG00000099459 Other designations: G protein coupled receptor|adrenergic, alpha-1A-, receptor variant 1|adrenergic, alpha-1A-, receptor variant 11|adrenergic, alpha-1A-, receptor variant 3|adrenergic, alpha-1A-, receptor variant 5|adrenergic, alpha-1A-, receptor variant 8|alpha-1A adrenergic receptor|alpha-1A adrenoceptor|alpha-1A adrenoreceptor|alpha-1C adrenergic receptor ADRA1A Bin Zhao, Yue Liu, Oliver He AG2S AGTR1B AT1 AT1AR AT1B AT1BR AT1R AT2R1 HAT1R WEB: http://www.ncbi.nlm.nih.gov/gene AGTR1 angiotensin II receptor, type 1 185 3q24 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0001558 (EC: NAS, PMID: 17159080); GO_0001596 (EC: IDA, PMID: 10993080); GO_0001596 (EC: IPI, PMID: 1378723); GO_0001822 (EC: IMP, PMID: 16116425); GO_0002018 (EC: NAS, PMID: 17159080); GO_0002034 (EC: IC, PMID: 10993080); GO_0003081 (EC: IC, PMID: 1378723); GO_0004945 (EC: IDA, PMID: 15611106); GO_0005515 (EC: IPI, PMID: 1378723); GO_0005886 (EC: IDA, PMID: 19023134); GO_0005886 (EC: TAS); GO_0005887 (EC: IC, PMID: 1378723); GO_0007186 (EC: IDA, PMID: 1378723); GO_0007200 (EC: NAS, PMID: 17159080); GO_0007204 (EC: IDA, PMID: 1567413); GO_0007266 (EC: IDA, PMID: 15611106); GO_0010744 (EC: IC, PMID: 18971559); GO_0010873 (EC: IMP, PMID: 18971559); GO_0016021 (EC: NAS, PMID: 8135787); GO_0019229 (EC: IC, PMID: 1378723); GO_0019229 (EC: IDA, PMID: 15117835); GO_0019229 (EC: NAS, PMID: 17159080); GO_0019722 (EC: IDA, PMID: 1567413); GO_0031711 (EC: IPI, PMID: 10993080); GO_0032270 (EC: IMP, PMID: 18971559); GO_0032430 (EC: IMP, PMID: 17069818); GO_0033864 (EC: TAS, PMID: 17159080); GO_0034374 (EC: NAS, PMID: 17069818); GO_0035813 (EC: NAS, PMID: 17159080); GO_0038166 (EC: IDA, PMID: 15611106); GO_0042127 (EC: NAS, PMID: 17159080); GO_0042312 (EC: IC, PMID: 1378723); GO_0046982 (EC: IPI, PMID: 10993080); GO_0050727 (EC: IC, PMID: 1378723); GO_0050729 (EC: TAS, PMID: 17159080); GO_0051482 (EC: IDA, PMID: 1567413); GO_0060326 (EC: IDA, PMID: 15635042); GO_0086097 (EC: IDA, PMID: 10993080); GO_0086097 (EC: IPI, PMID: 1378723); GO_2000379 (EC: TAS, PMID: 17159080) PMID: 1378723; 1508224; 1543512; 1550596; 1567413; 1683828; 7491117; 7746328; 7792812; 7980575; 8021009; 8135787; 8166699; 8185574; 8662816; 8753867; 9074770; 9211925; 9468203; 9516477; 9606715; 9766385; 10510297; 10972591; 10993080; 11079515; 11081769; 11082147; 11085286; 11106322; 11110972; 11122322; 11136175; 11137090; 11152457; 11158334; 11208365; 11213892; 11226259; 11246471; 11250978; 11279203; 11288810; 11289708; 11317203; 11324803; 11330506; 11336183; 11341749; 11354780; 11355019; 11359462; 11444146; 11484170; 11531970; 11575217; 11577832; 11579203; 11593098; 11682489; 11687736; 11688760; 11689223; 11692158; 11696658; 11696688; 11707217; 11707686; 11709400; 11709801; 11711524; 11733189; 11752456; 11774217; 11775887; 11776100; 11793101; 11793845; 11798574; 11799082; 11852019; 11865575; 11881039; 11882570; 11903322; 11909563; 11910300; 11910301; 11913624; 11923700; 11924723; 11926202; 11938025; 11967817; 11999641; 12006574; 12031955; 12034692; 12045255; 12048678; 12095411; 12117739; 12127057; 12133421; 12133518; 12187084; 12358135; 12390711; 12394950; 12425365; 12436935; 12446192; 12446598; 12450401; 12454231; 12460700; 12473660; 12476891; 12477932; 12482634; 12511523; 12513040; 12514663; 12522132; 12522467; 12534336; 12544439; 12544508; 12556231; 12579398; 12579405; 12591176; 12593997; 12597535; 12624609; 12627871; 12627873; 12631360; 12660887; 12694873; 12694874; 12695419; 12716844; 12728975; 12747597; 12778448; 12832734; 12842881; 12860335; 12865608; 12891302; 12897464; 12898858; 12904590; 12925562; 12932862; 12950120; 12960024; 14502296; 14508191; 14521778; 14529856; 14530292; 14569094; 14597852; 14610337; 14627489; 14654250; 14657020; 14730619; 14749533; 14764974; 14765837; 14767013; 14987254; 14997233; 15013293; 15013322; 15013333; 15017542; 15031629; 15042429; 15045574; 15062885; 15080371; 15097234; 15108186; 15117835; 15126556; 15130920; 15153745; 15193870; 15193960; 15196067; 15212666; 15221785; 15238568; 15269283; 15295089; 15326089; 15332573; 15353577; 15355986; 15364762; 15376229; 15385810; 15452107; 15452121; 15454732; 15458433; 15480097; 15480098; 15492474; 15496309; 15498133; 15498791; 15498833; 15504143; 15505642; 15543360; 15545271; 15545843; 15563875; 15580058; 15590451; 15611106; 15612584; 15628301; 15635042; 15662219; 15673342; 15676177; 15683714; 15694792; 15718424; 15718497; 15743363; 15775779; 15785027; 15797649; 15824464; 15848528; 15863668; 15890659; 15905345; 15914614; 15923814; 15930094; 15934435; 15946912; 15949885; 16006956; 16012192; 16047641; 16061119; 16076618; 16088850; 16105049; 16108768; 16109085; 16109807; 16109907; 16112405; 16116425; 16152821; 16188060; 16189286; 16231503; 16271939; 16274774; 16276415; 16294326; 16314886; 16339777; 16344560; 16364240; 16369102; 16384824; 16395664; 16396964; 16398146; 16434990; 16468060; 16492203; 16498788; 16504375; 16519598; 16521052; 16522324; 16525943; 16525944; 16530863; 16550310; 16565729; 16603315; 16609364; 16611642; 16615274; 16636899; 16651460; 16672053; 16684954; 16685579; 16691016; 16736244; 16741369; 16741935; 16754659; 16775386; 16787961; 16790149; 16805920; 16823505; 16831865; 16876684; 16893516; 16911325; 16923768; 16954165; 16998258; 17008309; 17024648; 17051401; 17069818; 17097490; 17118372; 17118790; 17118791; 17143591; 17146658; 17159080; 17160213; 17165166; 17166941; 17173513; 17190732; 17207964; 17211247; 17211857; 17220293; 17223428; 17227479; 17229913; 17256744; 17261659; 17270098; 17274465; 17285438; 17293603; 17298481; 17299793; 17325239; 17326392; 17327458; 17334527; 17336987; 17375465; 17378368; 17393691; 17399955; 17429042; 17433630; 17446269; 17446655; 17486447; 17487826; 17499413; 17519002; 17520398; 17522061; 17524880; 17541127; 17546276; 17557241; 17569300; 17586411; 17586781; 17595257; 17617024; 17668390; 17702963; 17703434; 17710578; 17719203; 17725712; 17726226; 17728799; 17785770; 17851694; 17903694; 17914507; 17921131; 17921431; 17921816; 17984617; 17988266; 17992634; 17993594; 18006496; 18026817; 18059164; 18069999; 18088317; 18091746; 18158351; 18172057; 18188697; 18202720; 18205094; 18231736; 18239157; 18239384; 18240029; 18245065; 18260840; 18261537; 18296263; 18308844; 18328310; 18331441; 18347611; 18348177; 18364271; 18413189; 18413222; 18413308; 18414380; 18417209; 18432064; 18434621; 18446309; 18464745; 18464932; 18475152; 18488444; 18491423; 18497458; 18513389; 18534055; 18550062; 18550936; 18551012; 18563171; 18565507; 18575418; 18577758; 18594050; 18594540; 18612202; 18622242; 18633425; 18637188; 18641512; 18660489; 18676046; 18679149; 18698212; 18700314; 18703536; 18719072; 18767410; 18787507; 18787943; 18800139; 18830250; 18855530; 18856058; 18927546; 18953568; 18971559; 18974842; 18985387; 19014923; 19017652; 19021695; 19023134; 19023273; 19026696; 19040540; 19056482; 19057513; 19059460; 19064815; 19067809; 19082699; 19086053; 19102886; 19108684; 19110485; 19112833; 19131662; 19145770; 19162241; 19162259; 19166692; 19178574; 19185300; 19218102; 19236533; 19238444; 19242491; 19245071; 19247266; 19253715; 19254215; 19263529; 19274051; 19274077; 19276075; 19282863; 19286758; 19286759; 19288324; 19302184; 19304510; 19308748; 19309260; 19327134; 19330904; 19332265; 19341158; 19397700; 19408837; 19418628; 19420105; 19424575; 19461648; 19463113; 19479237; 19487683; 19503013; 19509012; 19520069; 19524223; 19546528; 19559392; 19578796; 19587357; 19593696; 19620885; 19635801; 19680137; 19681973; 19696781; 19706169; 19713412; 19716087; 19729965; 19752885; 19755917; 19779016; 19779330; 19779464; 19782519; 19811349; 19833117; 19853701; 19913121; 19929134; 19940150; 19948975; 19954723; 19956635; 19997001; 20026870; 20027122; 20066125; 20080265; 20108069; 20118823; 20137558; 20142115; 20161734; 20181817; 20223791; 20223792; 20300066; 20302034; 20304486; 20308035; 20351714; 20361261; 20452482; 20458733; 20465154; 20478903; 20486282; 20525211; 20536507; 20537417; 20537563; 20558762; 20559404; 20560294; 20563831; 20565774; 20570668; 20577119; 20580725; 20594303; 20602615; 20606419; 20628086; 20659024; 20667857; 20673868; 20703234; 20708651; 20714875; 20731749; 20732682; 20816596; 20824505; 20837730; 20838438; 20851291; 20854100; 20854388; 20856803; 20861505; 20864943; 20943774; 20945417; 20966899; 20975235; 20978160; 21052031; 21086617; 21152433; 21162207; 21163122; 21173159; 21176342; 21223556; 21234519; 21234654; 21316998; 21319597; 21330421; 21332426; 21412239; 21436209; 21449976; 21463477; 21502318; 21525005; 21570644; 21596033; 21600887; 21607620; 21628354; 21633717; 21636204; 21638051; 21641389; 21670585; 21671168; 21740964; 21771600; 21791198; 21808598; 21846682; 21856918; 21937042; 21970881; 21986569; 22021115; 22147663; 22237156; 22282354; 22291018; 22297600; 22323719; 22362742; 22387727; 22392878; 22407459; 22433249; 22475523; 22484478; 22555639; 22561363; 22569962; 22581182; 22590832; 22613986; 22645060; 22647632; 22703619; 22719026; 22758920; 22782431; 22939041; 23081748; 23145508; 23176211; 23210602; 23223579; 23273598; 23326349; 23386604; 23389452; 23451270; 23480300; 23480670; 23484035; 23505107; 23536940; 23564192; 23567951; 23585396; 23592774; 23603059; 23615648; 23681235; 23694962; 23700157; 23745680; 23755207; 23828384; 23880184; 23942655; 24015270; 24055489; 24202179; 24218433; 24400721 angiotensin II receptor, type 1 Ensembl:ENSG00000144891 HGNC:336 HPRD:00107 MIM:106165 Vega:OTTHUMG00000159503 Other designations: type-1 angiotensin II receptor|type-1B angiotensin II receptor AGTR1 Bin Zhao, Yue Liu, Oliver He ALDB ALDO2 WEB: http://www.ncbi.nlm.nih.gov/gene ALDOB aldolase B, fructose-bisphosphate 229 RP11-490D19.1 9q21.3-q22.2 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0004332 (EC: EXP); GO_0004332 (EC: IDA, PMID: 10625657); GO_0005515 (EC: IPI, PMID: 18000879); GO_0005815 (EC: IDA, PMID: 18000879); GO_0005829 (EC: TAS); GO_0005975 (EC: TAS); GO_0006000 (EC: IMP, PMID: 3383242); GO_0006001 (EC: TAS); GO_0006006 (EC: TAS); GO_0006094 (EC: TAS); GO_0006096 (EC: IDA, PMID: 10625657); GO_0006096 (EC: IEA); GO_0006096 (EC: TAS); GO_0006116 (EC: IDA, PMID: 17576770); GO_0008092 (EC: IDA, PMID: 9244396); GO_0030388 (EC: IDA, PMID: 10625657); GO_0032781 (EC: IGI, PMID: 17576770); GO_0034451 (EC: IDA, PMID: 18000879); GO_0042802 (EC: IPI, PMID: 10625657); GO_0044281 (EC: TAS); GO_0051117 (EC: IDA, PMID: 17576770); GO_0070061 (EC: IMP, PMID: 10625657); GO_0070072 (EC: IGI, PMID: 17576770) PMID: 1967768; 2336380; 2410860; 2649152; 2830249; 3000275; 3016456; 3383242; 6548561; 6585824; 6689266; 7717389; 8162030; 8299883; 8535439; 9244396; 10024431; 10625657; 10970798; 11241348; 11399750; 11679716; 11752456; 12205126; 12417303; 12464284; 12477932; 14966907; 15063762; 15532022; 15880727; 16406649; 17292585; 17457694; 17576770; 17955389; 18000879; 18029348; 18541450; 18700007; 19817957; 20033295; 20162364; 20848650; 20882353; 21166391; 21832049; 21890473; 21963094; 21987572; 21988832; 22001757; 22505724; 22911800 aldolase B, fructose-bisphosphate Ensembl:ENSG00000136872 HGNC:417 HPRD:01972 MIM:612724 Vega:OTTHUMG00000020378 Other designations: aldolase 2|aldolase B, fructose-bisphosphatase|fructose-bisphosphate aldolase B|liver-type aldolase ALDOB Bin Zhao, Yue Liu, Oliver He ADR ALDR1 ALR2 AR WEB: http://www.ncbi.nlm.nih.gov/gene AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase) 231 7q35 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0004032 (EC: IEA); GO_0004033 (EC: TAS, PMID: 8435445); GO_0005615 (EC: TAS, PMID: 2112546); GO_0005634 (EC: IDA); GO_0005730 (EC: IDA, Qualifier: NOT); GO_0005737 (EC: IDA); GO_0005829 (EC: TAS); GO_0005975 (EC: TAS, PMID: 2112546); GO_0006700 (EC: TAS); GO_0006950 (EC: TAS, PMID: 8435445); GO_0008202 (EC: TAS); GO_0009055 (EC: TAS, PMID: 2112546); GO_0043795 (EC: IDA); GO_0044281 (EC: TAS); GO_0044597 (EC: IMP); GO_0044598 (EC: IMP); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 1447221; 1621098; 1901827; 1901857; 2111143; 2112546; 2492527; 2498333; 2504709; 2510130; 6417042; 7789640; 8234324; 8245005; 8268209; 8281941; 8343525; 8347133; 8405190; 8435445; 8615700; 8645003; 8877273; 9195951; 9405046; 9565553; 10075698; 10510318; 11095596; 11182213; 11306081; 11444797; 11449315; 11499839; 11796181; 11842041; 11874426; 11958479; 12446366; 12477932; 12486717; 12604221; 12660865; 12690205; 14582038; 14662023; 14694017; 14694018; 14996095; 15162486; 15181092; 15231748; 15251463; 15270790; 15277434; 15284219; 15284221; 15489334; 15504980; 15569136; 15583024; 15637423; 15745835; 15862967; 15973199; 16021519; 16174723; 16176189; 16545977; 16620264; 16701918; 16911628; 16928730; 16936152; 17018629; 17139089; 17270157; 17353931; 17418233; 17563730; 17851230; 17968325; 18029348; 18385795; 18434430; 18451330; 18495158; 18716049; 19056867; 19273550; 19420105; 19422879; 19760097; 19821053; 19847669; 19850041; 19913121; 20093363; 20150532; 20353610; 20354121; 20424224; 20628086; 20639865; 20943776; 21067489; 21067572; 21084309; 21139048; 21182935; 21294693; 21306562; 21329682; 21329684; 21409599; 21420193; 21637955; 21853274; 21890473; 21906983; 21963094; 21987572; 22360420; 22505724; 22561432; 22649481; 22658411; 22844269; 22939629; 22978663; 23000965; 23029549; 23146748; 23517423; 23732517; 24100137; 24186862 aldo-keto reductase family 1, member B1 (aldose reductase) Ensembl:ENSG00000085662 HGNC:381 HPRD:00071 MIM:103880 Vega:OTTHUMG00000155322 Other designations: Lii5-2 CTCL tumor antigen|aldehyde reductase 1|aldo-keto reductase family 1 member B1|aldose reductase|low Km aldose reductase AKR1B1 Bin Zhao, Yue Liu, Oliver He A1M EDC1 HCP HI30 IATIL ITI ITIL ITILC UTI WEB: http://www.ncbi.nlm.nih.gov/gene AMBP alpha-1-microglobulin/bikunin precursor 259 9q32-q33 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0004867 (EC: TAS, PMID: 12817471); GO_0005515 (EC: IPI, PMID: 16364318); GO_0005576 (EC: NAS, PMID: 11877257); GO_0005576 (EC: TAS); GO_0005886 (EC: IDA, PMID: 12817471); GO_0007155 (EC: NAS, PMID: 9570066); GO_0007565 (EC: NAS, PMID: 10097787); GO_0009986 (EC: IEA); GO_0010951 (EC: TAS, PMID: 12817471); GO_0016032 (EC: IEA); GO_0018298 (EC: IEA); GO_0019855 (EC: NAS, PMID: 12817471); GO_0019862 (EC: IDA, PMID: 11877257); GO_0020037 (EC: IDA, PMID: 11877257); GO_0030163 (EC: IEA); GO_0036094 (EC: IEA); GO_0042167 (EC: NAS, PMID: 11877257); GO_0042803 (EC: IPI, PMID: 11883904); GO_0043231 (EC: IEA); GO_0046329 (EC: TAS, PMID: 12817471); GO_0046904 (EC: NAS, PMID: 14516400); GO_0050777 (EC: NAS, PMID: 10097787); GO_0070062 (EC: IDA, PMID: 19056867); GO_0072562 (EC: IDA) PMID: 72071; 1385302; 1694784; 1696200; 1697852; 1700638; 1708673; 1714898; 1898736; 2408638; 2413856; 2419908; 2428011; 2430261; 2465147; 2472935; 2482577; 3663330; 3890890; 6164372; 6171497; 6196366; 6198962; 7506257; 7513643; 7519849; 7528952; 7533162; 7535251; 7682553; 9183005; 9472382; 9566199; 9570066; 9671439; 10097787; 10447938; 10631976; 10727951; 10878892; 11036097; 11058759; 11807786; 11877257; 11883904; 12477932; 12817471; 14516400; 14597629; 14718574; 15037615; 15452109; 15489334; 15498571; 15653696; 16140784; 16364318; 16407257; 16712791; 16916777; 17087727; 17115277; 17146627; 17207965; 17320766; 17584166; 17633530; 17766242; 17998887; 18046670; 18226914; 18448433; 18624398; 18649735; 19056867; 19636634; 19879940; 19913121; 19914646; 20602574; 20628086; 20954860; 21067798; 21332340; 21988832; 22096585; 22595828; 22684072; 23324582; 23414180; 23801333; 23841057; 24012674 alpha-1-microglobulin/bikunin precursor Ensembl:ENSG00000106927 HGNC:453 HPRD:01467 MIM:176870 Vega:OTTHUMG00000020534 Other designations: bikunin|complex-forming glycoprotein heterogeneous in charge|growth-inhibiting protein 19|inter-alpha-trypsin inhibitor light chain|protein AMBP|protein HC|trypstatin|uristatin|uronic-acid-rich protein AMBP Bin Zhao, Yue Liu, Oliver He AGPT2 ANG2 WEB: http://www.ncbi.nlm.nih.gov/gene ANGPT2 angiopoietin 2 285 8p23.1 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0001525 (EC: IEA); GO_0001666 (EC: IEA); GO_0005102 (EC: TAS, PMID: 10766762); GO_0005515 (EC: IPI); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 9660821); GO_0005634 (EC: IEA); GO_0005886 (EC: IEA); GO_0007165 (EC: TAS, PMID: 10766762); GO_0007281 (EC: IEA); GO_0007596 (EC: TAS); GO_0009314 (EC: IEA); GO_0009612 (EC: IEA); GO_0009749 (EC: IEA); GO_0010812 (EC: IEA); GO_0014070 (EC: IEA); GO_0014823 (EC: IEA); GO_0016525 (EC: IEA); GO_0030971 (EC: IPI, PMID: 19922791); GO_0031100 (EC: IEA); GO_0042995 (EC: IEA); GO_0043537 (EC: IDA, PMID: 9660821); GO_0045766 (EC: IEA); GO_0046872 (EC: IEA); GO_0048014 (EC: IDA, PMID: 19922791); GO_0050900 (EC: TAS); GO_0050928 (EC: IDA, PMID: 9660821); GO_0060135 (EC: IEA); GO_0071363 (EC: IEA); GO_0072012 (EC: ISS) PMID: 8125298; 9204896; 9545648; 9660821; 9723709; 9927494; 10051567; 10343124; 10514510; 10766762; 10964717; 11447223; 11578860; 11856872; 11861279; 12138242; 12176040; 12213874; 12427764; 12477932; 12612904; 12717391; 12810677; 12861074; 14507641; 14556828; 14568550; 14702352; 14726409; 14767538; 14768007; 14976056; 14991531; 15002056; 15003510; 15094228; 15112366; 15127326; 15161644; 15198927; 15213103; 15284088; 15284220; 15375511; 15489334; 15498854; 15542434; 15562207; 15642468; 15694966; 15734895; 15743799; 15769741; 15823283; 15893672; 16009172; 16020388; 16129411; 16182107; 16229183; 16242072; 16290311; 16338068; 16344560; 16417407; 16424009; 16458662; 16465407; 16525658; 16538528; 16614513; 16629644; 16690881; 16714355; 16723371; 16790091; 16803467; 16830384; 16877277; 16956819; 16978237; 16978614; 17003480; 17030814; 17141400; 17167981; 17200776; 17258205; 17287278; 17322632; 17341311; 17361220; 17395886; 17409768; 17505039; 17513791; 17558601; 17601353; 17630849; 17673702; 17704802; 17724803; 17785951; 17828495; 17904634; 17928052; 17931370; 17943167; 18006475; 18092380; 18182823; 18269030; 18310225; 18382887; 18483397; 18516587; 18541195; 18564921; 18568888; 18644593; 18664247; 18675456; 18720385; 18727515; 18791490; 18807212; 18952457; 18957536; 18991494; 18996102; 19010534; 19018553; 19082594; 19086654; 19102939; 19112163; 19164323; 19223473; 19226440; 19228739; 19271210; 19300530; 19339208; 19341361; 19351722; 19403561; 19435449; 19438587; 19476937; 19478794; 19499513; 19502452; 19539650; 19543148; 19551369; 19567053; 19616847; 19728062; 19815705; 19875484; 19913849; 19922791; 19954476; 20067780; 20068079; 20072144; 20088942; 20099495; 20179005; 20208992; 20213583; 20348331; 20359117; 20379614; 20382847; 20452482; 20482750; 20501615; 20519501; 20562294; 20583134; 20599737; 20629092; 20670479; 20673868; 20696814; 20806109; 20863203; 21042788; 21081932; 21119365; 21131273; 21143700; 21149250; 21163858; 21168819; 21179479; 21248670; 21257790; 21269615; 21300047; 21337734; 21368233; 21380565; 21400522; 21439064; 21450636; 21565611; 21575447; 21576085; 21603628; 21643812; 21672190; 21680733; 21685330; 21750433; 21762624; 21778249; 21809353; 21849906; 21851472; 21858121; 21884204; 21884468; 21900206; 21948244; 21956768; 21963094; 22000910; 22015631; 22095586; 22142364; 22182412; 22229541; 22279570; 22289349; 22311497; 22327175; 22342979; 22449617; 22483377; 22585576; 22640261; 22642477; 22659681; 22728324; 22730375; 22750392; 22770562; 22777681; 22949515; 22989097; 22995870; 23024612; 23099117; 23123737; 23149917; 23174599; 23190105; 23190218; 23232696; 23284823; 23302768; 23305976; 23409162; 23419030; 23421785; 23467610; 23503679; 23536671; 23587231; 23649549; 23652985; 23758184; 23785018; 23803577; 23826161; 23835996; 23899926; 24106271; 24355874; 24373251; 24421076 angiopoietin 2 Ensembl:ENSG00000091879 HGNC:485 HPRD:03563 MIM:601922 Vega:OTTHUMG00000090365 Other designations: ANG-2|Tie2-ligand|angiopoietin-2|angiopoietin-2B|angiopoietin-2a ANGPT2 Bin Zhao, Yue Liu, Oliver He ANX1 LPC1 WEB: http://www.ncbi.nlm.nih.gov/gene ANXA1 annexin A1 301 RP11-71A24.1 9q21.13 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0001533 (EC: IDA, PMID: 10908733); GO_0001780 (EC: IMP); GO_0002674 (EC: IEA); GO_0005102 (EC: TAS, PMID: 10882119); GO_0005198 (EC: IDA, PMID: 10908733); GO_0005509 (EC: IEA); GO_0005515 (EC: IPI); GO_0005543 (EC: TAS, PMID: 2967291); GO_0005544 (EC: IDA, PMID: 2138016); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA); GO_0005634 (EC: IEA); GO_0005737 (EC: IDA); GO_0005737 (EC: TAS, PMID: 16130169); GO_0005886 (EC: IDA); GO_0005929 (EC: IEA); GO_0006928 (EC: TAS, PMID: 10882119); GO_0006954 (EC: TAS, PMID: 10882119); GO_0007165 (EC: TAS, PMID: 16130169); GO_0007166 (EC: IEA); GO_0010165 (EC: IEA); GO_0016323 (EC: IEA); GO_0018149 (EC: IDA, PMID: 10908733); GO_0019834 (EC: IDA, PMID: 2936963); GO_0030073 (EC: IEA); GO_0030216 (EC: IDA, PMID: 10908733); GO_0030674 (EC: IDA, PMID: 10908733); GO_0031018 (EC: IEA); GO_0031340 (EC: IDA, PMID: 2138016); GO_0031394 (EC: IEA); GO_0031966 (EC: IEA); GO_0032355 (EC: IEA); GO_0033031 (EC: IEA); GO_0042063 (EC: IEA); GO_0042127 (EC: IEA); GO_0042383 (EC: IEA); GO_0042493 (EC: IEA); GO_0042803 (EC: IEA); GO_0043066 (EC: TAS, PMID: 16130169); GO_0043086 (EC: IDA, PMID: 2936963); GO_0043234 (EC: IEA); GO_0043434 (EC: IEA); GO_0046632 (EC: ISS); GO_0050482 (EC: IEA); GO_0050709 (EC: IEA); GO_0060206 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867); GO_0070301 (EC: IEA); GO_0070365 (EC: IEA); GO_0070555 (EC: IEA); GO_0071385 (EC: IDA, PMID: 2936963); GO_0097350 (EC: IMP); GO_1900087 (EC: IEA) PMID: 1374236; 1602151; 1670773; 1832554; 2138016; 2457390; 2532504; 2936963; 2967291; 2969496; 2971450; 3303336; 8425544; 8453382; 8557678; 8587144; 8955167; 9459484; 9915835; 10512675; 10882119; 10908733; 11468004; 11574426; 11759108; 12165536; 12236584; 12477932; 12645011; 12679902; 12689596; 12859969; 14506282; 14633604; 14733945; 15047060; 15064349; 15157173; 15161933; 15168732; 15187149; 15447985; 15476183; 15485879; 15489334; 15526283; 15581623; 15592455; 15883023; 15944914; 16014420; 16100712; 16130169; 16226712; 16324197; 16460738; 16530434; 16627980; 16675446; 16741918; 16883066; 16899607; 16949910; 16973129; 16984915; 17008549; 17019707; 17023068; 17081983; 17215481; 17255364; 17317721; 17340616; 17353931; 17372018; 17626739; 17676665; 17681950; 17873281; 17932043; 17971499; 17994624; 18029348; 18164291; 18297688; 18396684; 18566442; 18577758; 18594025; 18652761; 18663355; 18673418; 18706208; 18776816; 18794547; 18850631; 19056867; 19076685; 19101730; 19104500; 19204938; 19208747; 19289595; 19351789; 19394292; 19428102; 19596235; 19615732; 19738201; 19767728; 19850308; 19913121; 20007579; 20025479; 20061392; 20163912; 20237496; 20308542; 20353277; 20359522; 20398702; 20549082; 20558817; 20562859; 20602103; 20628086; 20665809; 20679535; 20713499; 20821804; 20872967; 20924191; 20930115; 20962261; 20970165; 21122411; 21127395; 21132403; 21139048; 21145461; 21195640; 21254404; 21319273; 21365324; 21383699; 21398608; 21412170; 21420379; 21800051; 21836070; 21890473; 21900206; 21903368; 21906983; 21963094; 22056994; 22116825; 22164217; 22304920; 22378018; 22505724; 22586326; 22610094; 22613333; 22623428; 22640735; 22701020; 22723974; 22736399; 22773844; 22777765; 22792315; 22909323; 22929401; 22939629; 23000965; 23017499; 23029153; 23154128; 23241962; 23277546; 23341933; 23376147; 23403091; 23413360; 23431236; 23638088; 23674846; 23727357; 23754495; 23786757; 23824909; 23862649; 24163370 annexin A1 Ensembl:ENSG00000135046 HGNC:533 HPRD:01060 MIM:151690 Vega:OTTHUMG00000020016 Other designations: annexin I (lipocortin I)|annexin-1|calpactin II|calpactin-2|chromobindin-9|lipocortin I|p35|phospholipase A2 inhibitory protein ANXA1 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene APOA1 apolipoprotein A-I 335 11q23-q24 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0001523 (EC: TAS); GO_0001540 (EC: IDA, PMID: 11297421); GO_0001932 (EC: IEA); GO_0001935 (EC: IEA); GO_0002576 (EC: TAS); GO_0002740 (EC: IDA, PMID: 12458630); GO_0005515 (EC: IPI, PMID: 11297421); GO_0005543 (EC: IDA, PMID: 12810715); GO_0005548 (EC: IEA); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 19433579); GO_0005615 (EC: ISS); GO_0005634 (EC: IEA); GO_0005769 (EC: TAS); GO_0005788 (EC: TAS); GO_0005829 (EC: TAS); GO_0005886 (EC: TAS); GO_0006656 (EC: IDA, PMID: 4335615); GO_0006695 (EC: IEA); GO_0007186 (EC: IDA, PMID: 16443932); GO_0007584 (EC: IEA); GO_0007596 (EC: TAS); GO_0007603 (EC: TAS); GO_0008035 (EC: IEA); GO_0008203 (EC: IMP, PMID: 15464323); GO_0008211 (EC: IEA); GO_0010804 (EC: IDA); GO_0010873 (EC: IDA, PMID: 4335615); GO_0010903 (EC: IDA, PMID: 14967812); GO_0014012 (EC: IEA); GO_0015485 (EC: IDA, PMID: 15464323); GO_0017127 (EC: IDA, Qualifier: contributes_to, PMID: 9651324); GO_0017127 (EC: IMP, PMID: 15464323); GO_0018158 (EC: IDA, PMID: 12576517); GO_0018206 (EC: IDA, PMID: 12576517); GO_0019899 (EC: IPI, PMID: 1587806); GO_0019915 (EC: IEA); GO_0030139 (EC: IDA, PMID: 14747463); GO_0030168 (EC: TAS); GO_0030300 (EC: IEA); GO_0030301 (EC: IDA, PMID: 10559507); GO_0030325 (EC: IEA); GO_0031100 (EC: IEA); GO_0031410 (EC: IDA, PMID: 14703508); GO_0032489 (EC: IDA, PMID: 16443932); GO_0033344 (EC: IDA, PMID: 11162594); GO_0033700 (EC: IDA, PMID: 11162594); GO_0034115 (EC: IDA); GO_0034190 (EC: IPI, PMID: 11162594); GO_0034191 (EC: IPI, PMID: 16443932); GO_0034361 (EC: IDA, PMID: 17154273); GO_0034364 (EC: IDA, PMID: 15464323); GO_0034366 (EC: IDA, PMID: 16682745); GO_0034375 (EC: IC, PMID: 4335615); GO_0034380 (EC: IDA, PMID: 190223); GO_0034384 (EC: IC, PMID: 12651854); GO_0034774 (EC: TAS); GO_0042157 (EC: TAS); GO_0042158 (EC: IEA); GO_0042493 (EC: IEA); GO_0042632 (EC: IDA); GO_0042632 (EC: IMP, PMID: 15464323); GO_0042802 (EC: IPI); GO_0043534 (EC: IEA); GO_0043627 (EC: IEA); GO_0043691 (EC: IMP, PMID: 15464323); GO_0044255 (EC: TAS); GO_0044281 (EC: TAS); GO_0050713 (EC: IDA, PMID: 12458630); GO_0050728 (EC: IDA); GO_0050821 (EC: IDA, PMID: 17655203); GO_0051345 (EC: IDA, PMID: 7638166); GO_0051347 (EC: IEA); GO_0055085 (EC: TAS); GO_0055091 (EC: IDA); GO_0055102 (EC: IEA); GO_0060192 (EC: IEA); GO_0060228 (EC: IDA, PMID: 4335615); GO_0060354 (EC: IDA); GO_0060761 (EC: IDA); GO_0070062 (EC: IDA, PMID: 19056867); GO_0070328 (EC: IDA); GO_0070508 (EC: IMP, PMID: 14718538); GO_0070653 (EC: IPI, PMID: 10764676); GO_0071682 (EC: TAS); GO_0072562 (EC: IDA) PMID: 164450; 190223; 204308; 210174; 1076467; 1502149; 1587806; 1602151; 1644835; 1723385; 1808634; 1898657; 2107878; 2108924; 2111322; 2123470; 2506176; 2506184; 2512329; 2673706; 2687158; 2995392; 3005308; 3047170; 3104518; 3119665; 3120314; 3129297; 3142462; 3142880; 3931073; 4335615; 4345202; 6198645; 6207999; 6294659; 6304641; 6308458; 6328445; 6401735; 6402711; 6404278; 6405383; 6406984; 6409108; 6412234; 6413973; 6432779; 6439535; 6457647; 6489332; 6816269; 7592581; 7638166; 7895732; 7918609; 8049247; 8240372; 8282791; 8663389; 8664326; 8675681; 8740847; 9003180; 9200714; 9211901; 9305883; 9325276; 9356442; 9469594; 9514407; 9593801; 9651324; 9829992; 9916936; 9931341; 10085035; 10191289; 10198255; 10222237; 10487826; 10559507; 10627502; 10722751; 10764676; 10801839; 10828089; 10858436; 11055796; 11063469; 11162594; 11171287; 11181747; 11223438; 11254757; 11264435; 11297421; 11472750; 11507973; 11572515; 11718686; 11737222; 11744719; 11756058; 11773045; 11776109; 11805090; 11836686; 11854286; 11860752; 11866037; 11866932; 11878923; 11879189; 11903341; 11907138; 11916081; 11929608; 11931574; 11963567; 11991719; 12000358; 12011770; 12030900; 12044583; 12048121; 12050338; 12084722; 12116231; 12123106; 12145244; 12167653; 12173940; 12177172; 12270762; 12369845; 12421824; 12458630; 12462973; 12468059; 12473160; 12477932; 12509922; 12511593; 12515395; 12531890; 12544508; 12556235; 12562854; 12573451; 12576517; 12588323; 12608057; 12642784; 12651854; 12665801; 12690114; 12692252; 12692552; 12709430; 12722515; 12724319; 12732844; 12742997; 12754494; 12754559; 12782148; 12791946; 12798568; 12801612; 12810715; 12818417; 12871600; 12875674; 12928428; 12952980; 12962772; 12964943; 12966036; 12974138; 14510906; 14559902; 14563824; 14567398; 14580163; 14592845; 14609337; 14630798; 14660648; 14665416; 14666619; 14701824; 14703508; 14718538; 14718574; 14729861; 14734645; 14741338; 14746139; 14747463; 14967052; 14967812; 14986172; 14988232; 15001567; 15020600; 15036610; 15051721; 15060083; 15066991; 15108119; 15115711; 15174051; 15177130; 15188057; 15218078; 15242863; 15258834; 15280376; 15292375; 15297675; 15304365; 15314690; 15334687; 15358760; 15359539; 15362856; 15464323; 15474503; 15476409; 15488874; 15489334; 15498766; 15533931; 15540281; 15574409; 15584908; 15585206; 15649902; 15654128; 15654758; 15657615; 15694942; 15695525; 15723520; 15751988; 15766290; 15782489; 15805548; 15823278; 15849246; 15868628; 15882068; 15900219; 15910632; 15922294; 15925353; 15952766; 15961173; 15962178; 15972827; 15982502; 15994327; 16005361; 16005451; 16005460; 16009332; 16023124; 16053196; 16060677; 16091367; 16126721; 16128586; 16130094; 16136540; 16169070; 16197951; 16204232; 16236546; 16259956; 16285990; 16309370; 16326978; 16342934; 16368749; 16380821; 16403951; 16407233; 16417409; 16418537; 16443932; 16452169; 16455106; 16475830; 16495141; 16497665; 16520487; 16542392; 16545386; 16574896; 16671566; 16682745; 16698792; 16705465; 16710093; 16763159; 16770077; 16781717; 16801176; 16895799; 16931800; 16939214; 16968945; 17020879; 17071967; 17075859; 17076584; 17113061; 17142127; 17154273; 17165100; 17204472; 17216278; 17255364; 17261136; 17272829; 17298957; 17303779; 17378725; 17447731; 17457002; 17474718; 17475009; 17478755; 17510466; 17517342; 17526499; 17530370; 17530866; 17563120; 17580958; 17600344; 17604270; 17615385; 17654446; 17655203; 17683612; 17693625; 17696931; 17698072; 17727676; 17761633; 17786215; 17825930; 17845074; 17853951; 17855807; 17868679; 17919884; 17938634; 17950741; 17964293; 17967773; 17991432; 18063807; 18073484; 18179799; 18179892; 18193043; 18193044; 18193046; 18202432; 18206649; 18218626; 18252847; 18257091; 18280807; 18316036; 18322452; 18378026; 18385134; 18387362; 18388068; 18398670; 18406360; 18506369; 18515783; 18562802; 18565099; 18566298; 18583707; 18594986; 18597093; 18617649; 18621920; 18622028; 18624398; 18660489; 18678879; 18682504; 18688016; 18695102; 18719109; 18719128; 18774540; 18776170; 18801202; 18805838; 18823627; 18824596; 18831538; 18848320; 18927546; 18988890; 18988892; 19013290; 19022789; 19023195; 19035465; 19048603; 19056867; 19057464; 19060906; 19060911; 19066833; 19074352; 19105467; 19116237; 19122170; 19124125; 19155782; 19164805; 19170766; 19171400; 19191080; 19207029; 19208510; 19217440; 19218819; 19237735; 19239199; 19242900; 19258317; 19285487; 19304335; 19318685; 19324878; 19324996; 19327233; 19336370; 19336475; 19339807; 19372457; 19408098; 19433579; 19473658; 19481824; 19528336; 19551315; 19558216; 19578796; 19592705; 19618959; 19635584; 19636829; 19651918; 19667106; 19701693; 19729689; 19732897; 19740687; 19762782; 19765778; 19766218; 19786567; 19802338; 19805625; 19863188; 19878569; 19911804; 19913121; 19917453; 19932694; 19948731; 19948975; 19956635; 19965585; 20008415; 20031551; 20059975; 20064972; 20080084; 20083572; 20110571; 20133843; 20139978; 20143106; 20164363; 20167577; 20182709; 20195290; 20197510; 20211930; 20213498; 20215705; 20331378; 20349521; 20360068; 20368199; 20376577; 20378541; 20382384; 20385548; 20394740; 20399916; 20413122; 20421239; 20430392; 20442857; 20452482; 20459474; 20480398; 20524691; 20534134; 20538481; 20539018; 20571754; 20578904; 20599735; 20602615; 20622162; 20628086; 20634891; 20642861; 20656001; 20660328; 20673868; 20674306; 20683626; 20686565; 20693280; 20714348; 20727869; 20800056; 20801516; 20805508; 20826588; 20835684; 20842444; 20847045; 20855565; 20864672; 20869895; 20884842; 21033077; 21040803; 21047795; 21069432; 21103663; 21115733; 21117950; 21122686; 21122859; 21129746; 21138461; 21141907; 21145806; 21156318; 21209084; 21292766; 21296086; 21329368; 21330603; 21339300; 21354994; 21355296; 21367423; 21378990; 21394531; 21399642; 21399863; 21416664; 21420943; 21443680; 21452855; 21458433; 21504968; 21549099; 21571275; 21576418; 21631938; 21640348; 21676393; 21677994; 21730889; 21734188; 21749932; 21755356; 21761133; 21767760; 21800051; 21800421; 21801720; 21804189; 21811627; 21820994; 21832049; 21835924; 21840419; 21846716; 21854571; 21868729; 21870882; 21875686; 21900206; 21909109; 21914797; 21944998; 21988832; 22056562; 22105741; 22119776; 22211563; 22219194; 22229410; 22235130; 22245143; 22271762; 22282358; 22286219; 22287661; 22295944; 22297598; 22320308; 22389325; 22407494; 22418575; 22441101; 22471842; 22483015; 22619369; 22674204; 22675253; 22750655; 22889670; 22916037; 22924697; 22952757; 22986928; 23037322; 23066790; 23067370; 23088652; 23096223; 23119086; 23121297; 23125458; 23152129; 23154241; 23183508; 23209431; 23219399; 23233540; 23233678; 23322769; 23359805; 23364307; 23385359; 23409054; 23410546; 23420675; 23425306; 23438152; 23447138; 23454085; 23457133; 23505323; 23543682; 23564081; 23568022; 23580759; 23631828; 23668303; 23697869; 23701995; 23730806; 23740387; 23786280; 23806608; 23829168; 23883582; 23889245; 23969698; 23973688; 23984834; 23989729; 24028463; 24120703; 24201377; 24285582; 24308268; 24316228 apolipoprotein A-I Other designations: apo-AI APOA1 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene APOA4 apolipoprotein A-IV 337 11q23 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0001523 (EC: TAS); GO_0002227 (EC: IDA, PMID: 15254593); GO_0005319 (EC: TAS, PMID: 3080432); GO_0005507 (EC: IDA, PMID: 16945374); GO_0005576 (EC: NAS, PMID: 14718574); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 1935934); GO_0005769 (EC: TAS); GO_0005788 (EC: TAS); GO_0005829 (EC: TAS); GO_0006869 (EC: IDA, PMID: 1935934); GO_0006982 (EC: IDA, PMID: 16945374); GO_0007159 (EC: IDA, PMID: 15254593); GO_0007603 (EC: TAS); GO_0008203 (EC: IDA, PMID: 1935934); GO_0008289 (EC: IMP, PMID: 16159879); GO_0009986 (EC: IDA, Qualifier: colocalizes_with, PMID: 1935934); GO_0010873 (EC: IDA, PMID: 1935934); GO_0010898 (EC: IDA, PMID: 2307668); GO_0016209 (EC: IDA, PMID: 16945374); GO_0017127 (EC: IDA, PMID: 1935934); GO_0019430 (EC: IDA, PMID: 16945374); GO_0030300 (EC: IEA); GO_0031210 (EC: IDA, PMID: 11940599); GO_0032374 (EC: IDA, PMID: 11940599); GO_0033344 (EC: IDA, PMID: 11162594); GO_0033700 (EC: IDA, PMID: 11162594); GO_0034361 (EC: IDA, PMID: 17154273); GO_0034364 (EC: IDA, PMID: 3095477); GO_0034371 (EC: IC, PMID: 2307668); GO_0034372 (EC: IDA, PMID: 2307668); GO_0034375 (EC: IC, PMID: 1935934); GO_0034378 (EC: TAS, PMID: 16159879); GO_0034445 (EC: IDA, PMID: 16945374); GO_0035634 (EC: IEA); GO_0042157 (EC: TAS); GO_0042627 (EC: IDA, PMID: 3095477); GO_0042632 (EC: IDA, PMID: 1935934); GO_0042744 (EC: IDA, PMID: 16945374); GO_0042803 (EC: IDA, PMID: 1935934); GO_0043691 (EC: IDA, PMID: 3095477); GO_0044240 (EC: IDA, PMID: 3095477); GO_0044281 (EC: TAS); GO_0045723 (EC: IDA, PMID: 2307668); GO_0046470 (EC: IDA, PMID: 1935934); GO_0051006 (EC: IDA, PMID: 2307668); GO_0055088 (EC: IDA, PMID: 3095477); GO_0060228 (EC: IDA, PMID: 1935934); GO_0065005 (EC: IMP, PMID: 16159879); GO_0072562 (EC: IDA) PMID: 1349197; 1487136; 1677358; 1737067; 1935934; 1973689; 2065039; 2216752; 2307668; 2331673; 2351649; 2930771; 3036793; 3080432; 3095477; 3095836; 3611972; 3755616; 3931073; 4345202; 6706947; 7728150; 8688083; 8956036; 9988739; 10069372; 10391210; 11108737; 11162594; 11181750; 11254757; 11472750; 11583715; 11592042; 11841825; 11940599; 11941585; 11952809; 12082592; 12116231; 12121350; 12220435; 12417525; 12477932; 12495081; 12556235; 12664082; 12676816; 12691171; 12692552; 12697303; 12777472; 12860258; 12962772; 14718574; 14751811; 15108119; 15174051; 15175360; 15252864; 15254593; 15258202; 15304365; 15311933; 15359534; 15488874; 15489334; 15559160; 15649902; 15721024; 15764642; 15806598; 15823278; 15864114; 15868628; 15910632; 15928313; 15962178; 16030523; 16105043; 16120654; 16159879; 16321685; 16326171; 16338932; 16602826; 16651467; 16710093; 16763159; 16770585; 16781717; 16788210; 16929032; 16945374; 17130180; 17154273; 17206692; 17261136; 17378725; 17457002; 17654446; 17712726; 17825930; 17855807; 17964293; 18029348; 18193043; 18193044; 18430727; 18513389; 18636124; 18660489; 18664021; 18676680; 18678879; 18789138; 18948973; 18996102; 19057464; 19060906; 19060911; 19074352; 19131662; 19166692; 19170196; 19263529; 19336370; 19336475; 19336561; 19403283; 19433068; 19592705; 19625176; 19689828; 19692168; 19701693; 19732897; 19878569; 19913121; 19948975; 20031551; 20117098; 20139978; 20164363; 20430392; 20554794; 20602615; 20609189; 20628086; 20674306; 20686565; 20714348; 20810159; 20864672; 21127258; 21297956; 21324458; 21378990; 21407247; 21712729; 21767760; 21909109; 22286219; 22916037; 23096082; 23132909; 23288849; 23338533; 23505323; 24311788 apolipoprotein A-IV Other designations: apo-AIV|apoA-IV|apolipoprotein A4 APOA4 Bin Zhao, Yue Liu, Oliver He AD2 LDLCQ5 LPG WEB: http://www.ncbi.nlm.nih.gov/gene APOE apolipoprotein E 348 19q13.2 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0000302 (EC: NAS, PMID: 11743999); GO_0001523 (EC: TAS); GO_0001540 (EC: IDA, PMID: 11305869); GO_0001937 (EC: IDA, PMID: 9685360); GO_0002021 (EC: IEA); GO_0005319 (EC: IDA, PMID: 17305370); GO_0005515 (EC: IPI, PMID: 12950167); GO_0005543 (EC: IDA, PMID: 4066713); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA); GO_0005737 (EC: NAS, PMID: 8083695); GO_0005737 (EC: TAS, PMID: 9622609); GO_0005769 (EC: TAS); GO_0005770 (EC: IEA); GO_0005794 (EC: IEA); GO_0005886 (EC: TAS); GO_0006641 (EC: IDA, PMID: 9649566); GO_0006641 (EC: IMP, PMID: 3771793); GO_0006707 (EC: IEA); GO_0006874 (EC: IEA); GO_0006898 (EC: IDA, PMID: 1917954); GO_0007010 (EC: TAS, PMID: 9622609); GO_0007186 (EC: IDA, PMID: 16443932); GO_0007263 (EC: IDA, PMID: 8995232); GO_0007271 (EC: TAS, PMID: 9622609); GO_0007568 (EC: IEA); GO_0007603 (EC: TAS); GO_0008201 (EC: IDA, PMID: 2745454); GO_0008203 (EC: IDA, PMID: 9649566); GO_0008203 (EC: IMP, PMID: 3771793); GO_0008219 (EC: IEA); GO_0008289 (EC: IDA, PMID: 4066713); GO_0010544 (EC: IDA, PMID: 8995232); GO_0010873 (EC: IDA, PMID: 15654758); GO_0010875 (EC: IDA, PMID: 14754908); GO_0010875 (EC: IGI, PMID: 12401887); GO_0014012 (EC: IEA); GO_0016209 (EC: IDA, PMID: 9685360); GO_0017127 (EC: IEA); GO_0019934 (EC: IDA, PMID: 8995232); GO_0030195 (EC: IDA, PMID: 8995232); GO_0030425 (EC: NAS, PMID: 8083695); GO_0030516 (EC: TAS, PMID: 9622609); GO_0030828 (EC: IDA, PMID: 8995232); GO_0031232 (EC: IEA); GO_0032489 (EC: IDA, PMID: 16443932); GO_0032526 (EC: IEA); GO_0032805 (EC: IDA, PMID: 15950758); GO_0032868 (EC: IEA); GO_0033344 (EC: IDA, PMID: 11162594); GO_0033700 (EC: IDA, PMID: 11162594); GO_0034361 (EC: IDA, PMID: 17154273); GO_0034362 (EC: IDA, PMID: 8245722); GO_0034363 (EC: IDA, PMID: 17336988); GO_0034364 (EC: IDA, PMID: 210174); GO_0034372 (EC: IDA, PMID: 15654758); GO_0034372 (EC: IGI, PMID: 12401887); GO_0034374 (EC: IEA); GO_0034375 (EC: IGI, PMID: 12401887); GO_0034380 (EC: IDA, PMID: 17305370); GO_0034382 (EC: IMP, PMID: 7175379); GO_0034384 (EC: IDA, PMID: 210175); GO_0034447 (EC: IDA, PMID: 1917954); GO_0034447 (EC: IMP, PMID: 9649566); GO_0042157 (EC: TAS); GO_0042158 (EC: IEA); GO_0042159 (EC: IEA); GO_0042311 (EC: IEA); GO_0042627 (EC: IDA, PMID: 16935699); GO_0042632 (EC: IDA, PMID: 9649566); GO_0042802 (EC: IDA, PMID: 4066713); GO_0042803 (EC: IPI, PMID: 8245722); GO_0043025 (EC: NAS, PMID: 8083695); GO_0043407 (EC: IDA, PMID: 9685360); GO_0043524 (EC: IEA); GO_0043537 (EC: IDA, PMID: 9685360); GO_0043691 (EC: IDA, PMID: 8127890); GO_0044281 (EC: TAS); GO_0045471 (EC: IEA); GO_0045541 (EC: IDA, PMID: 1917954); GO_0045773 (EC: IEA); GO_0046848 (EC: IEA); GO_0046907 (EC: TAS, PMID: 9622609); GO_0046911 (EC: IDA, PMID: 9685360); GO_0048156 (EC: IPI, PMID: 7566652); GO_0048168 (EC: TAS, PMID: 9622609); GO_0048709 (EC: IEA); GO_0048844 (EC: IEA); GO_0050728 (EC: IC, PMID: 8995232); GO_0050750 (EC: IDA, PMID: 210175); GO_0050750 (EC: IPI, PMID: 17326667); GO_0051000 (EC: IDA, PMID: 8995232); GO_0051044 (EC: IDA, PMID: 15950758); GO_0051651 (EC: IEA); GO_0060228 (EC: IDA, PMID: 15654758); GO_0070062 (EC: IDA, PMID: 19056867); GO_0070326 (EC: IDA, PMID: 1384047); GO_0070326 (EC: IPI, PMID: 12950167); GO_0071347 (EC: IEA); GO_0071363 (EC: IEA); GO_0071397 (EC: IEA); GO_0071682 (EC: TAS); GO_0071813 (EC: IEA); GO_0072562 (EC: IDA) PMID: 210174; 210175; 759055; 1356443; 1360898; 1361196; 1384047; 1617762; 1674745; 1713245; 1730728; 1917954; 2063194; 2101409; 2313204; 2341812; 2470732; 2498325; 2539388; 2556398; 2738044; 2745454; 2760009; 2779654; 2851587; 2987927; 2992507; 3038959; 3243553; 3283935; 3771793; 3922972; 3947350; 4066713; 4345202; 6199196; 6289314; 6323533; 6325438; 6327682; 6897404; 7068630; 7175379; 7263700; 7498414; 7566652; 7581381; 7586659; 7635945; 7761390; 7768901; 7797576; 7833947; 7972031; 8063017; 8083695; 8127890; 8245722; 8287539; 8300609; 8346443; 8488843; 8620924; 8624078; 8626535; 8756331; 8995232; 9012418; 9147408; 9218423; 9236223; 9360638; 9512010; 9622609; 9649566; 9685360; 9831625; 9869645; 9931331; 10520737; 10559559; 10662539; 10850798; 10962542; 10993992; 11030801; 11032626; 11033977; 11042151; 11055796; 11058710; 11060506; 11061249; 11063158; 11064931; 11072138; 11074789; 11076057; 11079660; 11095479; 11095526; 11096027; 11099722; 11100124; 11106322; 11109009; 11110974; 11113217; 11118024; 11118260; 11118404; 11118932; 11119301; 11121165; 11125748; 11126401; 11129109; 11129992; 11140838; 11140944; 11141572; 11143490; 11152862; 11153762; 11156623; 11157409; 11160955; 11162594; 11166913; 11166947; 11171287; 11171894; 11172628; 11173876; 11173877; 11173882; 11176958; 11177205; 11182472; 11204323; 11218879; 11229422; 11231028; 11236867; 11244490; 11254923; 11256794; 11257253; 11257255; 11259129; 11269459; 11269753; 11273849; 11273909; 11277566; 11280044; 11281447; 11281508; 11285089; 11295126; 11299424; 11302074; 11303757; 11305732; 11305851; 11305869; 11311499; 11315514; 11320185; 11326299; 11328206; 11332642; 11334266; 11334897; 11340230; 11341749; 11343612; 11343837; 11351136; 11354629; 11355019; 11357958; 11359065; 11360807; 11376902; 11378846; 11383910; 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22898894; 22899317; 22902767; 22904031; 22914590; 22914594; 22916037; 22918225; 22921891; 22927174; 22935789; 22936261; 22949395; 22955176; 22961083; 22967844; 22971752; 22972946; 22976236; 22982410; 22984509; 22986607; 22991192; 23011382; 23022416; 23023254; 23031429; 23036023; 23040522; 23042108; 23042215; 23049877; 23050006; 23051684; 23051975; 23056479; 23060451; 23063453; 23064258; 23067351; 23071163; 23079898; 23088986; 23091810; 23096223; 23098561; 23100402; 23100439; 23102119; 23103838; 23110764; 23110818; 23113606; 23118302; 23123227; 23132858; 23134888; 23134962; 23142051; 23142524; 23146133; 23152815; 23159043; 23159296; 23171142; 23175721; 23183136; 23186985; 23204275; 23213264; 23232444; 23238736; 23242296; 23242623; 23247007; 23251595; 23255503; 23255822; 23270420; 23272070; 23273617; 23275593; 23286790; 23288845; 23289212; 23290018; 23291160; 23292450; 23293020; 23296339; 23302659; 23312054; 23317568; 23320904; 23321337; 23324992; 23326517; 23364031; 23371373; 23372804; 23380990; 23382465; 23384034; 23384292; 23385359; 23396426; 23407349; 23407718; 23408335; 23411028; 23413428; 23415434; 23419831; 23424640; 23429815; 23430611; 23430745; 23455636; 23466070; 23492875; 23503772; 23522842; 23525328; 23537987; 23546960; 23553344; 23562540; 23565137; 23571587; 23573206; 23576895; 23581910; 23583468; 23584199; 23587637; 23587689; 23588940; 23590983; 23593485; 23603214; 23612909; 23613766; 23620513; 23624169; 23631810; 23631828; 23642733; 23652625; 23660682; 23663404; 23669301; 23684315; 23687437; 23701536; 23723060; 23726366; 23729930; 23731072; 23737466; 23743349; 23769398; 23771217; 23773371; 23779114; 23786792; 23808899; 23815818; 23826174; 23844046; 23844141; 23855979; 23865355; 23876113; 23883936; 23888546; 23902934; 23902937; 23919842; 23965289; 24009459; 24023260; 24023310; 24023758; 24145446; 24145819; 24163986; 24239320; 24276092; 24291031; 24308640; 24340925; 24448836; 24464001 apolipoprotein E Ensembl:ENSG00000130203 HGNC:613 HPRD:00135 MIM:107741 Vega:OTTHUMG00000128901 Other designations: apo-E|apolipoprotein E3 APOE Bin Zhao, Yue Liu, Oliver He AQP-CHIP CHIP28 CO WEB: http://www.ncbi.nlm.nih.gov/gene AQP1 aquaporin 1 (Colton blood group) 358 7p14 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0003097 (EC: IDA, PMID: 9096382); GO_0005223 (EC: IDA, PMID: 14561230); GO_0005267 (EC: IMP, PMID: 11914159); GO_0005372 (EC: IDA, PMID: 11914159); GO_0005515 (EC: IPI, PMID: 16189514); GO_0005634 (EC: IDA, PMID: 17645239); GO_0005737 (EC: IDA, PMID: 16814974); GO_0005886 (EC: IDA, PMID: 12002613); GO_0005886 (EC: IDA, Qualifier: NOT, PMID: 7544358); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 1722319); GO_0005903 (EC: IDA, PMID: 16133142); GO_0006182 (EC: IDA, PMID: 14561230); GO_0006813 (EC: ISS); GO_0006833 (EC: IDA, PMID: 11914159); GO_0006833 (EC: IMP, PMID: 19424603); GO_0006833 (EC: TAS); GO_0006884 (EC: IMP, PMID: 11922632); GO_0008519 (EC: IDA, PMID: 19273840); GO_0009925 (EC: IDA, PMID: 17409744); GO_0015079 (EC: ISS); GO_0015168 (EC: IDA, PMID: 7491270); GO_0015250 (EC: EXP); GO_0015250 (EC: IDA, PMID: 12801959); GO_0015250 (EC: IMP, PMID: 19424603); GO_0015670 (EC: IDA, PMID: 12745312); GO_0015696 (EC: IDA, PMID: 16574458); GO_0015701 (EC: TAS); GO_0015793 (EC: IDA, PMID: 7491270); GO_0016323 (EC: IDA, PMID: 12766090); GO_0016324 (EC: IDA, PMID: 12766090); GO_0019725 (EC: IDA, PMID: 19268465); GO_0020003 (EC: ISS); GO_0020005 (EC: IDA, Qualifier: colocalizes_with, PMID: 18665841); GO_0021670 (EC: IEP, PMID: 16133142); GO_0022857 (EC: IDA, PMID: 17012249); GO_0030157 (EC: IEP, PMID: 12801959); GO_0030184 (EC: IDA, PMID: 16682607); GO_0030185 (EC: IDA, PMID: 16682607); GO_0030950 (EC: IMP, PMID: 19584911); GO_0031526 (EC: IDA, PMID: 9013443); GO_0031965 (EC: IDA, PMID: 17645239); GO_0033326 (EC: IEP, PMID: 16814974); GO_0033554 (EC: IDA, PMID: 19268465); GO_0034644 (EC: IDA, PMID: 19424603); GO_0035377 (EC: IDA, PMID: 12766090); GO_0035378 (EC: IDA, PMID: 17012249); GO_0035379 (EC: IDA, PMID: 17012249); GO_0035379 (EC: TAS); GO_0042383 (EC: IDA, PMID: 17409744); GO_0042476 (EC: IEP, PMID: 12522663); GO_0042493 (EC: IDA, PMID: 12172703); GO_0043066 (EC: IDA, PMID: 16565507); GO_0043154 (EC: IMP); GO_0044281 (EC: TAS); GO_0045177 (EC: IDA, PMID: 14675051); GO_0045766 (EC: IMP, PMID: 18275976); GO_0046878 (EC: IMP, PMID: 15727941); GO_0048146 (EC: IDA, PMID: 16565507); GO_0050891 (EC: IEP, PMID: 17645239); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 15326289); GO_0070301 (EC: IDA, PMID: 19424603); GO_0071241 (EC: IDA, PMID: 14561230); GO_0071260 (EC: IDA, PMID: 19268465); GO_0071280 (EC: IDA, PMID: 7491270); GO_0071288 (EC: IDA, PMID: 12172703); GO_0071300 (EC: IDA, PMID: 12051745); GO_0071320 (EC: IDA, PMID: 18538351); GO_0071320 (EC: IEP, PMID: 17636236); GO_0071456 (EC: IDA, PMID: 18275976); GO_0071472 (EC: IDA, PMID: 18509662); GO_0071474 (EC: IMP, PMID: 11922632); GO_0071549 (EC: IDA, PMID: 16711029); GO_0071732 (EC: IDA, PMID: 14561230); GO_0071805 (EC: IMP, PMID: 11914159); GO_0071805 (EC: ISS); GO_0072488 (EC: IDA, PMID: 19273840); GO_0085018 (EC: IMP, PMID: 18665841) PMID: 1373524; 1722319; 2007592; 3049610; 3166547; 7491270; 7507481; 7514605; 7517253; 7517546; 7518771; 7521540; 7521882; 7532004; 7540589; 7544358; 7677994; 7693713; 8340403; 8576117; 8584435; 8703970; 9013443; 9096382; 9177353; 9321919; 9468475; 10559675; 10839360; 10872456; 10873606; 11034202; 11097616; 11171962; 11408278; 11532455; 11780053; 11884383; 11909995; 11914159; 11922632; 12002613; 12027013; 12051745; 12137754; 12172703; 12237771; 12399631; 12477932; 12498798; 12522663; 12690205; 12745312; 12766090; 12781664; 12801959; 12853948; 14514735; 14561230; 14592814; 14675051; 14701836; 14753493; 14753494; 15024704; 15135660; 15326289; 15489334; 15502805; 15563082; 15667881; 15727941; 15783300; 15809704; 15847654; 16133142; 16189514; 16300893; 16344560; 16481371; 16515633; 16534779; 16565507; 16574458; 16682607; 16698771; 16711029; 16814974; 16871401; 17012249; 17077939; 17219999; 17273788; 17408468; 17409744; 17511167; 17545093; 17549682; 17632520; 17636236; 17645239; 17854859; 17890385; 17894331; 17898873; 18052958; 18067501; 18080132; 18202181; 18247144; 18275976; 18280225; 18282122; 18313673; 18349152; 18392839; 18509662; 18510579; 18538351; 18544259; 18563339; 18575775; 18617525; 18665841; 18841368; 19060904; 19080511; 19253825; 19268465; 19273840; 19306058; 19424603; 19447967; 19472194; 19522191; 19545896; 19584911; 19619954; 19670620; 19726340; 19772916; 19787701; 19913121; 20063900; 20101282; 20137115; 20149606; 20360993; 20409716; 20424473; 20431033; 20461409; 20578142; 20628061; 20628086; 20739606; 20795314; 20806077; 20828513; 20965731; 20969805; 21063116; 21107133; 21237499; 21244858; 21252246; 21271497; 21360438; 21373963; 21395179; 21538271; 21551254; 21612401; 21760919; 21784068; 21793635; 21839760; 21896312; 22006723; 22093331; 22269467; 22310126; 22334691; 22348807; 22372348; 22396660; 22472942; 22901156; 22901921; 22964306; 23029502; 23219802; 23220481; 23268390; 23276695; 23313295; 23317544; 23332061; 23361277; 23393355; 23450058; 23549977; 24014128 aquaporin 1 (Colton blood group) Ensembl:ENSG00000240583 HGNC:633 HPRD:00140 MIM:107776 Vega:OTTHUMG00000023944 Other designations: aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)|aquaporin-1|aquaporin-CHIP|channel-like integral membrane protein, 28-kDa|urine water channel|water channel protein for red blood cells and kidney proximal tubule AQP1 Bin Zhao, Yue Liu, Oliver He AQP-CD WCH-CD WEB: http://www.ncbi.nlm.nih.gov/gene AQP2 aquaporin 2 (collecting duct) 359 12q12-q13 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0003097 (EC: IEA); GO_0003779 (EC: IEA); GO_0005372 (EC: IDA, PMID: 8584435); GO_0005764 (EC: IEA); GO_0005769 (EC: IEA); GO_0005791 (EC: IEA); GO_0005794 (EC: IEA); GO_0005802 (EC: IEA); GO_0005886 (EC: IDA, PMID: 9321919); GO_0005886 (EC: TAS); GO_0006833 (EC: IDA, PMID: 8584435); GO_0006833 (EC: TAS); GO_0006884 (EC: IEA); GO_0006915 (EC: IEA); GO_0006972 (EC: IEA); GO_0007565 (EC: IEA); GO_0007568 (EC: IEA); GO_0007588 (EC: TAS, PMID: 7532304); GO_0009651 (EC: IEA); GO_0010226 (EC: IEA); GO_0015168 (EC: IDA, PMID: 8584435); GO_0015250 (EC: EXP); GO_0015793 (EC: IDA, PMID: 8584435); GO_0016020 (EC: IDA); GO_0016021 (EC: IEA); GO_0016323 (EC: IEA); GO_0016324 (EC: IDA, PMID: 16928804); GO_0016324 (EC: ISS); GO_0030042 (EC: IEA); GO_0030136 (EC: IEA); GO_0030165 (EC: IEA); GO_0030658 (EC: TAS); GO_0032496 (EC: IEA); GO_0033762 (EC: IEA); GO_0042594 (EC: IEA); GO_0042631 (EC: IEA); GO_0043234 (EC: IEA); GO_0051592 (EC: IEA); GO_0051928 (EC: IEA); GO_0055037 (EC: IEA); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 15326289); GO_0070382 (EC: IEA); GO_0071280 (EC: IDA, PMID: 8584435); GO_0071288 (EC: IDA, PMID: 8584435); GO_0072205 (EC: IEA) PMID: 7510718; 7512890; 7522228; 7524315; 7525161; 7532304; 8125298; 8140421; 8584435; 8882880; 9048343; 9268644; 9302264; 9321919; 9402087; 9550615; 9649557; 9745427; 10372737; 10710543; 11076974; 11297561; 11456273; 11509828; 11536078; 11929850; 12021537; 12050236; 12051765; 12191971; 12194985; 12208541; 12477932; 12566732; 12631357; 12787389; 12819016; 14514735; 14593099; 14662748; 14702039; 15012730; 15100362; 15155571; 15326289; 15458431; 15489334; 15703994; 15922355; 15956775; 16049696; 16159898; 16221200; 16288724; 16449354; 16483614; 16563128; 16580609; 16825342; 16845277; 16902321; 16928804; 16968783; 16979638; 17192724; 17550212; 17636261; 17763164; 17957381; 17965877; 18040725; 18066585; 18247144; 18389276; 18515885; 18519086; 18678705; 19138132; 19147915; 19293543; 19458121; 19585583; 19701945; 19923410; 20301356; 20379614; 20390303; 20403973; 20416077; 20452482; 20673868; 20722976; 20724536; 21063116; 21209006; 21237499; 21252246; 21715543; 21824900; 22403735; 22644838; 22732097; 22778181; 22889921; 23078817; 23150186; 23326416; 23364801; 23409988; 23852332 aquaporin 2 (collecting duct) Ensembl:ENSG00000167580 HGNC:634 HPRD:00141 MIM:107777 Vega:OTTHUMG00000169709 Other designations: ADH water channel|AQP-2|aquaporin-2|aquaporin-CD|collecting duct water channel protein|water channel protein for renal collecting duct|water-channel aquaporin 2 AQP2 Bin Zhao, Yue Liu, Oliver He AQP-3 GIL WEB: http://www.ncbi.nlm.nih.gov/gene AQP3 aquaporin 3 (Gill blood group) 360 9p13 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0002684 (EC: IDA, PMID: 17943189); GO_0005215 (EC: NAS, PMID: 7543093); GO_0005737 (EC: IDA, PMID: 18718702); GO_0005886 (EC: IDA, PMID: 14521551); GO_0005886 (EC: TAS); GO_0005911 (EC: IDA, PMID: 18718702); GO_0006810 (EC: NAS, PMID: 7543093); GO_0006833 (EC: TAS, PMID: 17943189); GO_0007588 (EC: TAS, PMID: 7543093); GO_0015250 (EC: EXP); GO_0015250 (EC: TAS, PMID: 17943189); GO_0015254 (EC: IDA, PMID: 17943189); GO_0015840 (EC: IEA); GO_0016021 (EC: IC, PMID: 17943189); GO_0016323 (EC: IEA); GO_0032526 (EC: IDA, PMID: 17943189); GO_0033280 (EC: TAS, PMID: 17943189); GO_0042476 (EC: IEP, PMID: 12522663); GO_0045616 (EC: TAS, PMID: 17943189); GO_0051592 (EC: TAS, PMID: 17943189); GO_0055085 (EC: TAS); GO_0070295 (EC: IEA) PMID: 7543093; 7558005; 8641135; 9525951; 9558461; 11751877; 11918716; 12234316; 12239222; 12477932; 12522663; 12769265; 12773542; 14514735; 14521551; 14675200; 14702039; 15164053; 15375592; 15489334; 15703994; 16043462; 16344560; 16596446; 16638588; 16672223; 16918518; 17056099; 17471492; 17545093; 17943189; 17968524; 18036046; 18197497; 18247144; 18280225; 18435676; 18543247; 18601899; 18678926; 18718702; 19184071; 19322201; 19393693; 19545896; 19619514; 19913121; 20106632; 20141731; 20364107; 20428189; 20485009; 20546216; 20596606; 20628086; 21063116; 21135872; 21191421; 21237499; 21252246; 21276418; 21401805; 21457357; 21538271; 21907710; 22197473; 22211241; 22535323; 22576684; 22624030; 22808259; 22814259; 22901156; 23017148; 23041062; 23043286; 23152856; 23165320; 23463292 aquaporin 3 (Gill blood group) Ensembl:ENSG00000165272 HGNC:636 HPRD:08970 MIM:600170 Vega:OTTHUMG00000019769 Other designations: aquaglyceroporin-3|aquaporin 3 (GIL blood group)|aquaporin-3 AQP3 Bin Zhao, Yue Liu, Oliver He AQP2L KID WEB: http://www.ncbi.nlm.nih.gov/gene AQP6 aquaporin 6, kidney specific 363 12q13 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0005253 (EC: EXP); GO_0005887 (EC: TAS, PMID: 8812490); GO_0006810 (EC: TAS, PMID: 8812490); GO_0006833 (EC: TAS); GO_0007588 (EC: TAS, PMID: 8812490); GO_0015112 (EC: IEA); GO_0015250 (EC: TAS, PMID: 8812490); GO_0030658 (EC: TAS); GO_0042476 (EC: IEP, PMID: 12522663); GO_0055085 (EC: TAS) PMID: 8812490; 9268644; 12177001; 12477932; 12522663; 19680475; 20461409 aquaporin 6, kidney specific HGNC:639 HPRD:03226 MIM:601383 Other designations: AQP-6|aquaporin 2-like, kidney specific|aquaporin-6|aquaporin-6, kidney specific|hKID|kidney-specific aquaporin AQP6 Bin Zhao, Yue Liu, Oliver He ARHE Rho8 RhoE memB WEB: http://www.ncbi.nlm.nih.gov/gene RND3 Rho family GTPase 3 390 2q23.3 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0000139 (EC: IEA); GO_0003924 (EC: TAS, PMID: 8649376); GO_0005515 (EC: IPI); GO_0005525 (EC: IEA); GO_0006184 (EC: TAS, PMID: 8649376); GO_0007155 (EC: TAS, PMID: 9531558); GO_0007264 (EC: IEA); GO_0030036 (EC: TAS, PMID: 9531558) PMID: 8649376; 8889548; 9531558; 11940653; 12163169; 12477932; 12730235; 12773565; 12842009; 15489334; 15754346; 15777789; 15778465; 16311049; 17174923; 17182035; 18045987; 18204440; 18721871; 18923151; 18946488; 19101510; 19244113; 19850923; 20683643; 21109974; 21139048; 21209796; 21478267; 21917148; 22037464; 22132820; 22213123; 22234932; 22238593; 22251971; 22272352; 22357615; 22454524; 22477709; 22807448; 22829315; 23472165; 23546594; 23622247; 23630292; 24045951 Rho family GTPase 3 Ensembl:ENSG00000115963 HGNC:671 HPRD:04233 MIM:602924 Vega:OTTHUMG00000131859 Other designations: protein MemB|ras homolog gene family, member E|rho-related GTP-binding protein Rho8|rho-related GTP-binding protein RhoE|small GTP binding protein Rho8 RND3 Bin Zhao, Yue Liu, Oliver He AVPR V1a AVPR1 V1aR WEB: http://www.ncbi.nlm.nih.gov/gene AVPR1A arginine vasopressin receptor 1A 552 12q14-q15 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0001992 (EC: IEA); GO_0002125 (EC: IEA); GO_0003084 (EC: IEA); GO_0005000 (EC: IEA); GO_0005080 (EC: TAS, PMID: 10858434); GO_0005515 (EC: IPI, PMID: 18402937); GO_0005768 (EC: TAS, PMID: 10858434); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 8838314); GO_0006091 (EC: TAS, PMID: 8106369); GO_0007186 (EC: TAS, PMID: 10858434); GO_0007202 (EC: TAS, PMID: 8106369); GO_0007204 (EC: IEA); GO_0007621 (EC: IEA); GO_0007625 (EC: IEA); GO_0008015 (EC: TAS, PMID: 8106369); GO_0008284 (EC: IEA); GO_0010460 (EC: IEA); GO_0014049 (EC: IEA); GO_0014902 (EC: IEA); GO_0017046 (EC: IEA); GO_0019722 (EC: IEA); GO_0021537 (EC: IEA); GO_0030307 (EC: IEA); GO_0031394 (EC: IEA); GO_0031410 (EC: IEA); GO_0031894 (EC: IEA); GO_0032849 (EC: IEA); GO_0035176 (EC: IEA); GO_0035815 (EC: IEA); GO_0042631 (EC: IEA); GO_0042711 (EC: IEA); GO_0042713 (EC: IEA); GO_0043084 (EC: IEA); GO_0045907 (EC: IEA); GO_0051412 (EC: IEA); GO_0051970 (EC: IEA) PMID: 8012384; 8074728; 8106369; 8344200; 8838314; 9357056; 9581826; 10477084; 10478574; 10756113; 10858434; 12082568; 12436935; 12477932; 12869559; 14622255; 14757828; 15098001; 15489334; 15994199; 16205790; 16333859; 16520824; 16565083; 16721832; 16754659; 17440932; 17653244; 17696996; 17728669; 17939166; 18240029; 18384079; 18402937; 18490926; 18655900; 18765804; 19056558; 19086053; 19195791; 19350216; 19461995; 19598235; 19874574; 19913121; 20142561; 20368512; 20413116; 20452058; 20468064; 20546835; 20628086; 20889332; 21307861; 21514569; 21747049; 21980412; 22008661; 22288734; 22384070; 22457427; 22764113 arginine vasopressin receptor 1A HGNC:895 HPRD:02894 MIM:600821 Other designations: SCCL vasopressin subtype 1a receptor|V1-vascular vasopressin receptor AVPR1A|V1a vasopressin receptor|antidiuretic hormone receptor 1A|vascular/hepatic-type arginine vasopressin receptor|vasopressin V1a receptor AVPR1A Bin Zhao, Yue Liu, Oliver He ADHR DI1 DIR DIR3 NDI V2R WEB: http://www.ncbi.nlm.nih.gov/gene AVPR2 arginine vasopressin receptor 2 554 Xq28 20140408 9606 X protein-coding Official from a nomenclature committee GO_0003084 (EC: IEA); GO_0005000 (EC: TAS, PMID: 8882880); GO_0005515 (EC: IPI, PMID: 12409230); GO_0005768 (EC: TAS, PMID: 10858434); GO_0005783 (EC: TAS, PMID: 10880054); GO_0005794 (EC: TAS, PMID: 10880054); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 1303257); GO_0006833 (EC: TAS); GO_0007188 (EC: TAS, PMID: 10880054); GO_0007190 (EC: TAS, PMID: 9224808); GO_0007249 (EC: IEA); GO_0007588 (EC: TAS, PMID: 1303257); GO_0007599 (EC: TAS, PMID: 10880054); GO_0008284 (EC: IEA); GO_0010628 (EC: ISS); GO_0016021 (EC: NAS, PMID: 8882880); GO_0021537 (EC: IEA); GO_0031398 (EC: NAS, PMID: 19372219); GO_0032609 (EC: IEA); GO_0034097 (EC: IEA); GO_0035811 (EC: IEA); GO_0035814 (EC: IEA); GO_0055085 (EC: TAS) PMID: 1303257; 1303271; 1324225; 1356229; 1415251; 1534149; 1534150; 2714800; 7560098; 7833930; 7984150; 7987330; 7999078; 8037205; 8045948; 8078903; 8267567; 8479490; 8514744; 8621513; 8735975; 8882880; 8999963; 9224808; 9402087; 9581826; 9711877; 10477084; 10561596; 10694923; 10749568; 10770218; 10858434; 10880054; 11026555; 11232028; 11476731; 11754100; 11857925; 11868598; 11916004; 11923476; 12036966; 12409230; 12436935; 12473660; 12477932; 12482593; 12900404; 12960162; 14757828; 15319430; 15319442; 15452133; 15489334; 15782186; 15872203; 16115624; 16162341; 16240160; 16267275; 16333859; 16563128; 16580609; 16825342; 16845277; 17020465; 17101063; 17216256; 17229917; 17389737; 17550212; 17626156; 17941907; 18048502; 18199683; 18240029; 18288441; 18323675; 18358546; 18578504; 18726898; 18753429; 19086053; 19094077; 19170711; 19179480; 19217806; 19372219; 19440390; 19449677; 19542240; 19638944; 19703807; 19812297; 19816050; 19913121; 19996159; 20159941; 20237496; 20301356; 20389105; 20403097; 20628086; 20683494; 20974815; 21574774; 21575724; 21917732; 22052024; 22144672; 22145481; 22386940; 22644838; 22879391; 22965914; 23150186; 23236378; 23362144; 23364801; 23604254; 23762448; 23935101 arginine vasopressin receptor 2 Ensembl:ENSG00000126895 HGNC:897 HPRD:02368 MIM:300538 Vega:OTTHUMG00000024227 Other designations: AVPR V2|antidiuretic hormone receptor|renal-type arginine vasopressin receptor|vasopressin V2 receptor AVPR2 Bin Zhao, Yue Liu, Oliver He JTK11 UFO WEB: http://www.ncbi.nlm.nih.gov/gene AXL AXL receptor tyrosine kinase 558 19q13.1 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0001764 (EC: IEA); GO_0001779 (EC: IEA); GO_0001786 (EC: IDA); GO_0001961 (EC: IDA, PMID: 18840707); GO_0001974 (EC: IEA); GO_0004714 (EC: IEA); GO_0005515 (EC: IPI, PMID: 16362042); GO_0005524 (EC: IEA); GO_0005615 (EC: IDA); GO_0005887 (EC: TAS, PMID: 1656220); GO_0006909 (EC: IDA); GO_0006954 (EC: IEA); GO_0007165 (EC: TAS, PMID: 1656220); GO_0007167 (EC: IEA); GO_0007283 (EC: IEA); GO_0009986 (EC: IDA, PMID: 19657094); GO_0018108 (EC: TAS, PMID: 1656220); GO_0021885 (EC: IEA); GO_0030168 (EC: IEA); GO_0031100 (EC: IEA); GO_0031668 (EC: IEA); GO_0032036 (EC: IEA); GO_0032689 (EC: IDA, PMID: 18840707); GO_0032720 (EC: IEA); GO_0032825 (EC: IDA, PMID: 18840707); GO_0032940 (EC: IEA); GO_0034101 (EC: IEA); GO_0034446 (EC: IEA); GO_0035457 (EC: IDA, PMID: 19657094); GO_0042698 (EC: IEA); GO_0043277 (EC: IEA); GO_0043491 (EC: IEA); GO_0043524 (EC: IEA); GO_0043548 (EC: IEA); GO_0045087 (EC: IEA); GO_0046982 (EC: IEA); GO_0048469 (EC: IEP, PMID: 19657094); GO_0051250 (EC: IEA); GO_0051897 (EC: IEA); GO_0060068 (EC: IEA); GO_0070301 (EC: IEA); GO_0071222 (EC: IDA, PMID: 19657094); GO_0097028 (EC: IEP, PMID: 19657094); GO_2000669 (EC: IDA, PMID: 19657094) PMID: 1656220; 1729376; 1834974; 2247464; 7521695; 7822279; 7854420; 8247543; 8381225; 8610109; 8621659; 8889549; 8939948; 9130617; 9178760; 9492013; 11290560; 12029073; 12364394; 12470648; 12477932; 12490074; 12768229; 14565870; 14729616; 14750094; 15130893; 15507525; 15605394; 15733062; 15958209; 15964779; 16344560; 16354588; 16362042; 16556867; 16585512; 16641895; 16831897; 17005688; 17255529; 18172262; 18345028; 18522535; 18620092; 18673450; 18760998; 18840707; 19055724; 19322201; 19541935; 19567592; 19633687; 19657094; 19815557; 19888345; 19913121; 20080645; 20088931; 20145042; 20417630; 20442363; 20546121; 20603615; 20628086; 20637106; 20664904; 20818175; 20922806; 21047970; 21057535; 21068757; 21076472; 21132014; 21135257; 21139048; 21317930; 21343401; 21384080; 21496277; 21501828; 21529875; 21555911; 21796150; 21814748; 21822309; 21842265; 21906983; 21963094; 21987572; 22141136; 22156524; 22187964; 22410775; 22489801; 22516347; 22751098; 22833165; 22836088; 22844123; 22890323; 22939624; 23000965; 23071254; 23077658; 23117882; 23298489; 23318455; 23321254; 23361052; 23372686; 23523856; 23527720; 23617806; 23629654; 23648337; 23662598; 23684620; 23754286; 23921085; 23940030; 23982172; 24333418 AXL receptor tyrosine kinase Ensembl:ENSG00000167601 HGNC:905 HPRD:00171 MIM:109135 Vega:OTTHUMG00000182727 Other designations: AXL oncogene|AXL transforming sequence/gene|tyrosine-protein kinase receptor UFO AXL Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene B2M beta-2-microglobulin 567 CDABP0092 15q21-q22.2 20140408 9606 15 protein-coding Official from a nomenclature committee GO_0000139 (EC: TAS); GO_0001895 (EC: IEP); GO_0001916 (EC: IEA); GO_0002237 (EC: IEA); GO_0002474 (EC: TAS); GO_0002479 (EC: TAS); GO_0002480 (EC: TAS); GO_0002481 (EC: IEA); GO_0005515 (EC: IPI, PMID: 10638746); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA); GO_0005737 (EC: IDA); GO_0005788 (EC: TAS); GO_0005794 (EC: IDA); GO_0005886 (EC: IDA); GO_0005886 (EC: TAS); GO_0009897 (EC: IEA); GO_0012507 (EC: TAS); GO_0016032 (EC: TAS); GO_0019221 (EC: TAS); GO_0030670 (EC: TAS); GO_0031901 (EC: TAS); GO_0031905 (EC: TAS); GO_0033077 (EC: IEA); GO_0042026 (EC: IEA); GO_0042493 (EC: IEA); GO_0042590 (EC: TAS); GO_0042612 (EC: IEA); GO_0042802 (EC: IPI); GO_0045087 (EC: TAS); GO_0046686 (EC: IEA); GO_0050690 (EC: TAS); GO_0050776 (EC: TAS); GO_0060333 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 93026; 1390678; 1448153; 1737380; 2038058; 2289831; 2413854; 2450918; 2674742; 3048575; 3060434; 3309677; 3312414; 4586824; 6171820; 7554280; 7862664; 8076819; 8432869; 8619474; 8624812; 8769474; 8805302; 9110174; 9228302; 9545232; 9605335; 9714695; 9751712; 10064069; 10199391; 10221650; 10515878; 10638746; 10731476; 10791995; 10933786; 10948205; 11169396; 11257307; 11502003; 11513152; 11676539; 11738047; 11801591; 11847272; 11849381; 11877296; 11894933; 11914379; 11943769; 11967566; 11967567; 12006623; 12023961; 12085191; 12118248; 12119416; 12192077; 12415263; 12454016; 12464008; 12471623; 12477932; 12480693; 12480959; 12488093; 12516095; 12531797; 12738401; 12818210; 12833155; 12850147; 12860117; 12860118; 12897781; 12911560; 12958308; 12968074; 14681859; 14698299; 14699107; 14764708; 15185972; 15194307; 15249659; 15304001; 15489334; 15494406; 15498554; 15569716; 15610257; 15616564; 15623356; 15667222; 15723809; 15766269; 16024039; 16046408; 16053447; 16098535; 16108498; 16122756; 16126222; 16169070; 16322574; 16331970; 16375919; 16403526; 16475820; 16491092; 16509252; 16511243; 16518752; 16549777; 16601119; 16704420; 16740750; 16841247; 16846219; 16891806; 16901902; 16919295; 17055437; 17057332; 17108084; 17244347; 17348447; 17373663; 17498802; 17499801; 17543888; 17597407; 17618570; 17641012; 17646174; 17681531; 17693474; 17766066; 17852800; 17929129; 18022010; 18024396; 18029348; 18036353; 18046451; 18088490; 18164932; 18211100; 18215070; 18245532; 18257814; 18342332; 18393655; 18424782; 18506145; 18543331; 18568448; 18624398; 18674763; 18695889; 18704411; 18708068; 18713542; 18753422; 18765525; 18781797; 18801425; 18835253; 18835879; 18841160; 19010783; 19017634; 19056867; 19059216; 19136889; 19140844; 19148137; 19232323; 19265139; 19284997; 19393661; 19410618; 19483161; 19518133; 19596084; 19728333; 19754160; 19824733; 19829086; 19874554; 19913121; 20028983; 20071336; 20088607; 20089652; 20186038; 20237496; 20335170; 20351246; 20372847; 20444690; 20558175; 20587875; 20618438; 20628086; 20662519; 20805697; 20828817; 20831744; 21068391; 21085635; 21086121; 21107472; 21127468; 21131979; 21139048; 21216953; 21220305; 21232804; 21314441; 21332340; 21376205; 21525950; 21546482; 21624083; 21699748; 21718071; 21870705; 21919032; 21953582; 21963094; 22065046; 22137796; 22211248; 22307441; 22353804; 22373550; 22475215; 22524657; 22566695; 22577117; 22595828; 22683352; 22693999; 22710694; 22793795; 22797889; 22833104; 22859396; 22895515; 23123554; 23144825; 23225003; 23225015; 23229474; 23242610; 23329840; 23335043; 23417110; 23518194; 23602568; 23645685; 23648836; 23707648; 23717383; 23728017; 23806216; 23849305; 23859015; 23898101; 23911412; 24014031; 24078632; 24262149 beta-2-microglobulin Other designations: beta chain of MHC class I molecules|beta-2-microglobin B2M Bin Zhao, Yue Liu, Oliver He DSPG1 PG-S1 PGI SLRR1A WEB: http://www.ncbi.nlm.nih.gov/gene BGN biglycan 633 Xq28 20140408 9606 X protein-coding Official from a nomenclature committee GO_0001974 (EC: IEA); GO_0005201 (EC: NAS, PMID: 1860845); GO_0005539 (EC: IEA); GO_0005576 (EC: TAS); GO_0005578 (EC: NAS, PMID: 1860845); GO_0005796 (EC: TAS); GO_0005975 (EC: TAS); GO_0008150 (EC: ND); GO_0009986 (EC: IDA, PMID: 2212616); GO_0019800 (EC: IEA); GO_0030133 (EC: IDA); GO_0030198 (EC: TAS); GO_0030203 (EC: TAS); GO_0030204 (EC: TAS); GO_0030206 (EC: TAS); GO_0030207 (EC: TAS); GO_0030208 (EC: TAS); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0031012 (EC: ISS, Qualifier: colocalizes_with); GO_0042383 (EC: IEA); GO_0043202 (EC: TAS); GO_0044281 (EC: TAS); GO_0050840 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 1612609; 1860845; 1968422; 2059554; 2212616; 2590169; 2647739; 3597437; 7607653; 7793988; 7852349; 7881444; 8093006; 8093671; 8125298; 8178833; 8440685; 9731537; 9848887; 9880804; 10383378; 10684260; 10854409; 11076863; 11145944; 11256614; 11259413; 11598131; 11709279; 11723132; 11979972; 12070165; 12140283; 12153565; 12354766; 12387878; 12477932; 12538652; 14702039; 15031262; 15173106; 15372625; 15489334; 15489336; 15546867; 15775969; 16051607; 16344560; 16381901; 16434404; 16807372; 16883602; 16938379; 16989735; 17097211; 17120779; 17269742; 17516017; 18029348; 18602826; 18620607; 18621549; 18694824; 18701807; 18988796; 19056867; 19379665; 19422643; 19453261; 19502413; 19523462; 19580379; 20367117; 20382708; 20591478; 21029365; 21185747; 21397694; 21702857; 21879307; 21913799; 21969569; 21998129; 22095710; 22329809; 22374465; 22479366; 22582394; 22982459; 23007878; 23393390; 24051360; 24257755 biglycan Ensembl:ENSG00000182492 HGNC:1044 HPRD:02359 MIM:301870 Vega:OTTHUMG00000024205 Other designations: biglycan proteoglycan|bone/cartilage proteoglycan I|bone/cartilage proteoglycan-I|dermatan sulphate proteoglycan I|small leucine-rich protein 1A BGN Bin Zhao, Yue Liu, Oliver He BHMT1 HEL-S-61p WEB: http://www.ncbi.nlm.nih.gov/gene BHMT betaine--homocysteine S-methyltransferase 635 5q14.1 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0000096 (EC: TAS); GO_0005737 (EC: IDA); GO_0005829 (EC: TAS); GO_0006479 (EC: NAS, PMID: 10075673); GO_0006579 (EC: IEA); GO_0008270 (EC: IEA); GO_0008898 (EC: IEA); GO_0009086 (EC: IEA); GO_0010243 (EC: IEA); GO_0032403 (EC: IEA); GO_0034641 (EC: TAS); GO_0043234 (EC: IEA); GO_0044281 (EC: TAS); GO_0047150 (EC: NAS, PMID: 10075673); GO_0047150 (EC: TAS); GO_0050666 (EC: NAS, PMID: 10075673) PMID: 1657504; 8798461; 8889548; 9281325; 9681996; 10075673; 10529246; 11223523; 11516176; 11883905; 12071701; 12220488; 12475213; 12477932; 12749058; 12818402; 15122900; 15489334; 16189514; 16344560; 16816108; 16953798; 17035141; 17119116; 17376725; 17436311; 17705221; 17993766; 18000879; 18029348; 18230680; 18262489; 18427977; 18457970; 18498552; 18635682; 18676680; 18708404; 18830263; 18988749; 19048631; 19161160; 19170196; 19336437; 19493349; 19625176; 19635752; 19683694; 19692168; 19737740; 19777601; 19913121; 19936946; 19948975; 20031554; 20346360; 20453000; 20458436; 20628086; 20634891; 20662904; 20664391; 20737570; 21093336; 21349258; 21564312; 21565678; 21630102; 21988832; 22138536; 22339686; 22339736; 23378610; 23645037; 23720494 betaine--homocysteine S-methyltransferase Ensembl:ENSG00000145692 HGNC:1047 HPRD:04200 MIM:602888 Vega:OTTHUMG00000108157 Other designations: betaine--homocysteine S-methyltransferase 1|epididymis secretory sperm binding protein Li 61p BHMT Bin Zhao, Yue Liu, Oliver He OP-1 WEB: http://www.ncbi.nlm.nih.gov/gene BMP7 bone morphogenetic protein 7 655 RP11-560A15.5 20q13 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0001501 (EC: TAS, PMID: 2357959); GO_0001503 (EC: IEA); GO_0001656 (EC: IEP, PMID: 18437684); GO_0001657 (EC: ISS); GO_0001707 (EC: IEA); GO_0001823 (EC: IEP, PMID: 18437684); GO_0001837 (EC: TAS, PMID: 14679171); GO_0005125 (EC: IEA); GO_0005515 (EC: IPI, PMID: 18184661); GO_0005515 (EC: IPI, Qualifier: contributes_to, PMID: 9872992); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 17977014); GO_0007411 (EC: IEA); GO_0008083 (EC: IEA); GO_0008201 (EC: IEA); GO_0009880 (EC: IEA); GO_0010664 (EC: ISS); GO_0010800 (EC: IDA, PMID: 19736306); GO_0010862 (EC: IDA, PMID: 16049014); GO_0010862 (EC: TAS, PMID: 11580864); GO_0016358 (EC: TAS, PMID: 11580864); GO_0030198 (EC: TAS); GO_0030326 (EC: IEA); GO_0030501 (EC: IDA, PMID: 18436533); GO_0030509 (EC: IDA, PMID: 16049014); GO_0030855 (EC: IEA); GO_0031012 (EC: IEA); GO_0031988 (EC: IEA); GO_0032088 (EC: ISS); GO_0032355 (EC: IEA); GO_0033280 (EC: IEA); GO_0034116 (EC: IDA, PMID: 15100360); GO_0034504 (EC: IDA, PMID: 17244894); GO_0040007 (EC: IEA); GO_0042326 (EC: IDA, PMID: 17244894); GO_0042347 (EC: ISS); GO_0042475 (EC: IEA); GO_0043065 (EC: IEA); GO_0043401 (EC: IMP, PMID: 17244894); GO_0043407 (EC: IDA, PMID: 17244894); GO_0043434 (EC: IEA); GO_0045665 (EC: IDA, PMID: 16325379); GO_0045666 (EC: IEA); GO_0045669 (EC: IDA, PMID: 18436533); GO_0045746 (EC: IEA); GO_0045786 (EC: IDA, PMID: 11502704); GO_0045839 (EC: IDA, PMID: 17244894); GO_0045892 (EC: IDA, PMID: 15100360); GO_0045893 (EC: IDA, PMID: 14517293); GO_0045944 (EC: IEA); GO_0048596 (EC: IEA); GO_0048754 (EC: IEA); GO_0048762 (EC: IDA, PMID: 9693150); GO_0048812 (EC: IDA, PMID: 16325379); GO_0050768 (EC: IEA); GO_0051216 (EC: IEA); GO_0060272 (EC: IEA); GO_0060393 (EC: IDA, PMID: 16049014); GO_0060395 (EC: IDA, PMID: 17244894); GO_0060445 (EC: IEA); GO_0060485 (EC: ISS); GO_0060548 (EC: IDA, PMID: 12631064); GO_0060686 (EC: IEA); GO_0060687 (EC: IEA); GO_0070487 (EC: IDA, PMID: 15100360); GO_0071456 (EC: ISS); GO_0072040 (EC: IEA); GO_0072125 (EC: IDA, PMID: 17244894); GO_0072133 (EC: IEA); GO_0072134 (EC: IEA); GO_0072136 (EC: IEA); GO_1900006 (EC: IDA, PMID: 11580864); GO_1900106 (EC: IDA, PMID: 15100360); GO_2000121 (EC: ISS) PMID: 1427904; 2263636; 2357959; 7560881; 7644468; 7791754; 8006002; 8297380; 8570652; 8605097; 8889548; 9311995; 9693150; 9748228; 9872992; 10912525; 11401538; 11438941; 11472891; 11502704; 11580864; 11769973; 11780052; 12385776; 12477932; 12478285; 12478660; 12594282; 12631064; 12667445; 12734180; 12740218; 12741987; 12792780; 12811818; 12919879; 12925612; 14517293; 14587033; 14623234; 14660436; 14679171; 14702039; 14751565; 14981086; 15020244; 15100360; 15489334; 15574511; 15861517; 15929982; 15994952; 16049014; 16126463; 16325379; 16344560; 16419056; 16646979; 16686760; 16719933; 16807538; 16831023; 16846353; 16899516; 17003840; 17018615; 17244894; 17262821; 17264867; 17415633; 17478078; 17497692; 17522432; 17530715; 17530716; 17624341; 17656261; 17724140; 17909016; 17977014; 18029192; 18032587; 18160010; 18184661; 18259822; 18292470; 18328806; 18349123; 18393351; 18436533; 18437684; 18465455; 18496506; 18508541; 18514338; 18560367; 18621057; 18978678; 18980801; 19056781; 19108831; 19112509; 19116903; 19180920; 19240369; 19283074; 19301001; 19396502; 19403392; 19453255; 19453261; 19597895; 19725097; 19736306; 19816049; 19846067; 19850743; 19913121; 19950204; 20085912; 20093492; 20126477; 20188872; 20237496; 20424473; 20445470; 20506283; 20530416; 20540029; 20546278; 20573231; 20628086; 20632031; 20656331; 20670444; 20677014; 20682677; 20734064; 20887146; 20932341; 20952383; 21080950; 21110425; 21224856; 21305726; 21317922; 21447156; 21458096; 21485009; 21506685; 21591998; 21609526; 21644225; 21738478; 21765909; 21842277; 21896235; 21898381; 21906983; 21913019; 21924665; 21935711; 22048752; 22099397; 22118688; 22124112; 22140272; 22209770; 22209843; 22212474; 22244873; 22253716; 22305102; 22447022; 22490392; 22525892; 22674456; 22720873; 22778550; 22795855; 22958403; 23046931; 23126427; 23132958; 23179403; 23243027; 23386650; 23455153; 23471555; 23504348; 23539268; 23580474; 23651239; 23747893; 23825642; 23888776; 24072698; 24184479; 24190429 bone morphogenetic protein 7 Ensembl:ENSG00000101144 HGNC:1074 HPRD:00212 MIM:112267 Vega:OTTHUMG00000032812 Other designations: osteogenic protein 1 BMP7 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene C1QA complement component 1, q subcomponent, A chain 712 1p36.12 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 12960167); GO_0005576 (EC: TAS); GO_0005581 (EC: IEA); GO_0005602 (EC: TAS, PMID: 9461517); GO_0006956 (EC: TAS); GO_0006958 (EC: TAS); GO_0007267 (EC: TAS, PMID: 9461517); GO_0045087 (EC: TAS) PMID: 7240; 486087; 814163; 1249422; 1431141; 1537612; 1706597; 1744579; 1875953; 2372546; 6981115; 6981411; 7507842; 7642209; 7739575; 7939135; 8172568; 8195709; 8245486; 8252810; 8417122; 8778019; 8840296; 9013976; 9052718; 9184145; 9223728; 9225968; 9443108; 9444979; 9461517; 9476117; 9777412; 9780209; 10490997; 10504397; 10528211; 10878362; 11318594; 11714829; 12396016; 12477932; 12630757; 12645945; 12847249; 12960167; 15034050; 15174051; 15231748; 15489334; 15878871; 16046396; 16335952; 16465510; 16566583; 16710414; 17207965; 17929239; 18029348; 18054386; 18174230; 18406463; 18504288; 18505047; 18927313; 19423540; 19440201; 19484134; 19493541; 19656971; 19896716; 19913121; 20008834; 20139276; 20237496; 20332777; 20406964; 20438785; 20496011; 20528885; 20560256; 20628086; 21134100; 21159384; 21256764; 21343881; 21382349; 21429584; 21862594; 21951915; 21968398; 21988832; 22236909; 22260551; 22321011; 22356764; 22472776; 22700724; 22740328; 22879587; 23080069; 23086952; 23607884; 23650384; 23720782; 23991234; 24395916 complement component 1, q subcomponent, A chain Other designations: complement C1q subcomponent subunit A|complement component 1, q subcomponent, alpha polypeptide|complement component C1q, A chain C1QA Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene C1QB complement component 1, q subcomponent, B chain 713 RP4-815O16.3 1p36.12 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 12960167); GO_0005576 (EC: TAS); GO_0005581 (EC: IEA); GO_0005602 (EC: TAS, PMID: 1706597); GO_0006956 (EC: TAS); GO_0006958 (EC: TAS); GO_0042803 (EC: IEA); GO_0045087 (EC: TAS); GO_0048839 (EC: IEA); GO_0072562 (EC: IDA) PMID: 7240; 486087; 708376; 814163; 1249422; 1370572; 1537612; 1706597; 1744579; 1875953; 2894352; 3000358; 3180845; 6208566; 6981411; 7507842; 7642209; 7739575; 7939135; 8245486; 8252810; 9184145; 9443108; 9444979; 9777412; 9780209; 10471215; 10504397; 10882776; 11318594; 12396016; 12477932; 12645945; 12847249; 12960167; 15034050; 15489334; 15709773; 16289162; 16566583; 16710414; 17513176; 18174230; 18505047; 19344414; 19423540; 19493541; 20139276; 20237496; 20379614; 20406964; 20438785; 20528885; 21698244; 21862594; 21951915; 21988832; 22740328; 23607884; 23650384; 23720782; 23750785; 24457600 complement component 1, q subcomponent, B chain Other designations: complement C1q subcomponent subunit B|complement component 1, q subcomponent, beta polypeptide|complement component C1q, B chain|complement subcomponent C1q chain B C1QB Bin Zhao, Yue Liu, Oliver He AHUS5 ARMD9 ASP C3a C3b CPAMD1 HEL-S-62p WEB: http://www.ncbi.nlm.nih.gov/gene C3 complement component 3 718 19p13.3-p13.2 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0001798 (EC: IEA); GO_0001934 (EC: IDA, PMID: 15833747); GO_0001970 (EC: IEA); GO_0004866 (EC: IEA); GO_0005102 (EC: TAS, PMID: 9164946); GO_0005515 (EC: IPI, PMID: 11705926); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA); GO_0005886 (EC: TAS); GO_0006631 (EC: IEA); GO_0006954 (EC: IEA); GO_0006955 (EC: TAS, PMID: 4097977); GO_0006956 (EC: TAS); GO_0006957 (EC: TAS); GO_0006958 (EC: IEA); GO_0007165 (EC: TAS, PMID: 10085065); GO_0007186 (EC: TAS, PMID: 9164946); GO_0010575 (EC: IDA, PMID: 16452172); GO_0010828 (EC: IDA, PMID: 15833747); GO_0010866 (EC: IDA, PMID: 10432298); GO_0010884 (EC: IDA, PMID: 9555951); GO_0030449 (EC: TAS); GO_0031715 (EC: IDA, PMID: 15833747); GO_0045087 (EC: TAS); GO_0045745 (EC: IDA, PMID: 15833747); GO_0045766 (EC: IEA); GO_0050766 (EC: IEA); GO_0050776 (EC: TAS); GO_0070062 (EC: IDA); GO_0072562 (EC: IDA) PMID: 162484; 279011; 695691; 1238393; 1323007; 1350678; 1401896; 1531292; 1577777; 1703437; 1717583; 1830068; 1861080; 1976733; 2387584; 2473125; 2579379; 2584723; 2824652; 3052276; 3260670; 3279119; 3421908; 3488995; 3546307; 3871945; 4062888; 4097977; 6175959; 6203109; 6912277; 7512600; 7535292; 7539791; 7590866; 7642209; 7893437; 7911492; 7961791; 8406564; 8416818; 8471312; 8630395; 8648130; 8702752; 8845016; 8943712; 9059512; 9164946; 9291131; 9544576; 9555951; 9596584; 9605165; 9719152; 9988761; 10078261; 10079271; 10085065; 10358196; 10382758; 10432298; 10608878; 10610782; 10622723; 10882776; 10946275; 11058592; 11073102; 11086104; 11342658; 11367533; 11387479; 11513971; 11684127; 11705926; 11773063; 11785295; 11803045; 11813855; 11854358; 11884542; 11896391; 11939578; 11979403; 12006395; 12165538; 12477932; 12511407; 12540846; 12645945; 12679444; 12754519; 12761187; 12816955; 12878586; 12893820; 12942785; 12967641; 14527961; 14563826; 14639503; 14662858; 14702039; 14760718; 15033778; 15090635; 15187133; 15199963; 15241561; 15278436; 15342556; 15381670; 15383607; 15489226; 15590640; 15648851; 15713467; 15713468; 15749882; 15810889; 15833747; 15872081; 16148107; 16148115; 16177781; 16199891; 16263699; 16301317; 16335952; 16339538; 16355111; 16449793; 16452172; 16516157; 16530040; 16570073; 16627066; 16670774; 16809564; 16823297; 16889542; 16893076; 17051150; 17051152; 17051160; 17060630; 17172439; 17322907; 17372315; 17482181; 17498719; 17502296; 17520688; 17634448; 17684013; 17703412; 17762737; 17767156; 17984207; 18039528; 18039777; 18054386; 18061265; 18174230; 18206145; 18247123; 18253759; 18325906; 18356838; 18383369; 18434316; 18456336; 18562232; 18562603; 18566738; 18572187; 18585783; 18596911; 18631248; 18671285; 18682851; 18694577; 18702682; 18755462; 18760301; 18796626; 18802120; 18805911; 18854167; 18936151; 18974840; 19005416; 19015224; 19017934; 19022911; 19028820; 19028829; 19048105; 19112495; 19117936; 19131662; 19164292; 19168221; 19179465; 19196712; 19202148; 19225544; 19234341; 19246358; 19247692; 19258923; 19259132; 19263529; 19265162; 19328844; 19336475; 19344414; 19387462; 19399715; 19407382; 19423540; 19454698; 19457998; 19503104; 19505474; 19549636; 19559392; 19590060; 19661236; 19665237; 19670317; 19680263; 19694644; 19703145; 19767107; 19773279; 19797206; 19823576; 19825847; 19828715; 19834535; 19843088; 19850835; 19861685; 19878567; 19899988; 19913121; 19913840; 19939777; 19948975; 20089077; 20091675; 20104494; 20105190; 20105310; 20109314; 20139276; 20139773; 20157618; 20173020; 20188594; 20237496; 20238042; 20301541; 20378178; 20379614; 20381870; 20385819; 20385826; 20395963; 20406964; 20438785; 20453728; 20498262; 20503287; 20513133; 20523265; 20576771; 20603037; 20628086; 20628624; 20639865; 20644161; 20664795; 20706769; 20807366; 20817881; 20837143; 20841369; 20852386; 20861866; 20862287; 20888482; 20926033; 20926148; 20951140; 21055811; 21085669; 21163532; 21205667; 21270401; 21308746; 21402993; 21404895; 21414106; 21415311; 21435440; 21462136; 21464960; 21501302; 21527715; 21555552; 21566112; 21642543; 21658310; 21664558; 21665990; 21706294; 21733505; 21788512; 21801245; 21813769; 21816153; 21953030; 21966368; 21988832; 22007489; 22089112; 22132894; 22138144; 22145905; 22153860; 22171262; 22174912; 22176838; 22194611; 22228414; 22234447; 22246034; 22250080; 22253322; 22258234; 22264230; 22273503; 22324951; 22361228; 22390383; 22393059; 22415003; 22456601; 22518841; 22542119; 22553783; 22565852; 22635230; 22669319; 22673887; 22705344; 22718507; 22792353; 22851413; 22863782; 22878256; 22909298; 22930722; 22996269; 23028341; 23031360; 23056509; 23068452; 23071281; 23098807; 23134230; 23206327; 23209669; 23233260; 23235567; 23285141; 23337555; 23356914; 23365660; 23385359; 23390291; 23427180; 23455636; 23537682; 23619360; 23628799; 23639844; 23661701; 23719603; 23750785; 23833239; 23878142; 23956345; 23982842; 24239583; 24287422; 24367091 complement component 3 Ensembl:ENSG00000125730 HGNC:1318 HPRD:00400 MIM:120700 Vega:OTTHUMG00000150335 Other designations: C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1|C3a anaphylatoxin|acylation-stimulating protein cleavage product|complement C3|complement component C3|complement component C3a|complement component C3b|epididymis secretory sperm binding protein Li 62p|prepro-C3 C3 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene C7 complement component 7 730 5p13 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0005576 (EC: TAS); GO_0005579 (EC: IEA); GO_0006883 (EC: IEA); GO_0006956 (EC: TAS, PMID: 3335508); GO_0006957 (EC: IEA); GO_0006958 (EC: IEA); GO_0019835 (EC: IEA); GO_0030449 (EC: TAS); GO_0045087 (EC: TAS) PMID: 1387399; 1517503; 1672663; 2792129; 3052276; 3335508; 7523157; 7730625; 7814888; 8345200; 8364540; 8814254; 8871666; 8892662; 9218625; 9856499; 10551839; 10882776; 10886241; 11378347; 12477932; 12595902; 14760718; 15383587; 15489334; 15879120; 15889368; 16335952; 17266113; 18029348; 18842294; 19162005; 19179470; 19221116; 19344414; 19419965; 19423540; 19834535; 19864026; 19913121; 19931914; 20237496; 20406964; 20438785; 20628086; 21881993; 22206826; 23943762 complement component 7 Other designations: complement component C7 C7 Bin Zhao, Yue Liu, Oliver He CA-II CAC CAII Car2 HEL-76 WEB: http://www.ncbi.nlm.nih.gov/gene CA2 carbonic anhydrase II 760 8q22 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0001822 (EC: IEA); GO_0002009 (EC: IEA); GO_0004089 (EC: IEA); GO_0005515 (EC: IPI, PMID: 15990874); GO_0005615 (EC: IEA); GO_0005737 (EC: IDA, PMID: 114507); GO_0005829 (EC: TAS); GO_0005886 (EC: IDA, PMID: 15990874); GO_0005902 (EC: IEA); GO_0006730 (EC: IEA); GO_0008270 (EC: IDA, PMID: 3151020); GO_0009268 (EC: IEA); GO_0010043 (EC: IEA); GO_0015670 (EC: IEA); GO_0015701 (EC: TAS); GO_0016323 (EC: IEA); GO_0030424 (EC: IEA); GO_0032849 (EC: IEA); GO_0038166 (EC: IDA, PMID: 15990874); GO_0042475 (EC: IEA); GO_0043627 (EC: IEA); GO_0044070 (EC: IDA, PMID: 15990874); GO_0044281 (EC: TAS); GO_0045177 (EC: IDA, PMID: 14675051); GO_0045672 (EC: IEA); GO_0045780 (EC: IEA); GO_0046903 (EC: IEA); GO_0051453 (EC: ISS); GO_0070062 (EC: IDA, PMID: 19056867); GO_2001150 (EC: ISS) PMID: 114507; 823150; 1301935; 1542674; 1602151; 1925679; 1928091; 1977133; 2117271; 2121671; 2123360; 2850697; 3000449; 3081869; 3107918; 3108857; 3121496; 3151019; 3151020; 3221988; 3925334; 4207120; 4621826; 4624444; 6407977; 6817747; 7574487; 7627193; 7930522; 8127074; 8128957; 8460098; 8834238; 9143915; 9150731; 9205766; 9336790; 9453381; 9541386; 9774471; 9890926; 10231836; 10333352; 10423017; 10811634; 10820026; 10821857; 11063570; 11076507; 11264157; 11457932; 11606574; 11956656; 12056894; 12138085; 12171926; 12411514; 12477932; 12501217; 12566520; 12826902; 12933803; 14567693; 14578124; 14675051; 14675565; 14718574; 14736710; 14760703; 15049705; 15062553; 15218065; 15300855; 15453828; 15489334; 15667203; 15836783; 15837316; 15837325; 15952740; 15990874; 16106378; 16169070; 16196087; 16265785; 16344560; 16475831; 16687407; 16825953; 16996812; 17202139; 17319692; 17319695; 17363915; 17631639; 17881426; 18029348; 18060825; 18083150; 18189416; 18247480; 18323598; 18539591; 18580434; 18942852; 18976975; 19012038; 19034380; 19056867; 19269136; 19371798; 19407386; 19415900; 19520834; 19583303; 19615732; 19634894; 19686046; 20000378; 20025241; 20081808; 20170095; 20297840; 20360068; 20398423; 20445237; 20445238; 20509747; 20578724; 20634585; 20637176; 20693695; 20849852; 21139048; 21145461; 21145876; 21243755; 21282642; 21543742; 21680735; 21890473; 21988105; 22001224; 22192857; 22386980; 22416960; 22732064; 22878862; 23030313; 23098192; 23181366; 23215152; 23360090; 23674848; 23720494; 23727877; 23953824; 24036123 carbonic anhydrase II Ensembl:ENSG00000104267 HGNC:1373 HPRD:02023 MIM:611492 Vega:OTTHUMG00000164944 Other designations: carbonate dehydratase II|carbonic anhydrase 2|carbonic anhydrase B|carbonic anhydrase C|carbonic dehydratase|epididymis luminal protein 76 CA2 Bin Zhao, Yue Liu, Oliver He CALB WEB: http://www.ncbi.nlm.nih.gov/gene CALB1 calbindin 1, 28kDa 793 8q21.3 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0005499 (EC: IEA); GO_0005509 (EC: IEA); GO_0005515 (EC: IPI, PMID: 16763551); GO_0005634 (EC: IDA, PMID: 16928804); GO_0005829 (EC: IEA); GO_0007611 (EC: IEA); GO_0007626 (EC: IEA); GO_0010842 (EC: IEA); GO_0030424 (EC: ISS); GO_0030425 (EC: IEA); GO_0035502 (EC: IEA); GO_0043025 (EC: IEA); GO_0045202 (EC: IEA); GO_0048167 (EC: IEA); GO_0051480 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867); GO_0071310 (EC: IEA); GO_0072205 (EC: IEA); GO_0072221 (EC: IEA); GO_0072286 (EC: IEA) PMID: 1537319; 1713126; 1906795; 2565876; 2897519; 3691519; 7943215; 8739042; 9373717; 10841767; 11994015; 12176979; 12477932; 12520521; 12606474; 12684061; 14702039; 15489334; 15641794; 15741335; 16421571; 16763551; 16928804; 17156698; 17257825; 17442486; 18259068; 18359862; 18568448; 18587625; 19056867; 19674066; 20054781; 20098747; 20214988; 20452033; 21364983; 21565611; 22272358; 22483853 calbindin 1, 28kDa Ensembl:ENSG00000104327 HGNC:1434 HPRD:00229 MIM:114050 Vega:OTTHUMG00000134314 Other designations: D-28K|RTVL-H protein|calbindin|calbindin 1, (28kD)|calbindin D28|vitamin D-dependent calcium-binding protein, avian-type CALB1 Bin Zhao, Yue Liu, Oliver He CALC1 CGRP CGRP-I CGRP1 CT KC WEB: http://www.ncbi.nlm.nih.gov/gene CALCA calcitonin-related polypeptide alpha 796 11p15.2 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0001935 (EC: IDA, PMID: 17267696); GO_0001944 (EC: IDA, PMID: 17267696); GO_0001976 (EC: IDA, PMID: 10642343); GO_0001984 (EC: IEA); GO_0002027 (EC: IEA); GO_0002031 (EC: IDA, PMID: 10882736); GO_0002548 (EC: IDA, PMID: 15248232); GO_0005102 (EC: IDA, PMID: 16014619); GO_0005179 (EC: IEA); GO_0005515 (EC: IPI, PMID: 17689535); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 18057382); GO_0005634 (EC: IEA); GO_0005737 (EC: IDA, PMID: 17267696); GO_0005737 (EC: IEA); GO_0006468 (EC: IDA); GO_0006954 (EC: IEA); GO_0007159 (EC: IDA, PMID: 1326102); GO_0007189 (EC: IEA); GO_0007190 (EC: IDA, PMID: 10822112); GO_0007204 (EC: IDA, PMID: 17983652); GO_0007218 (EC: IEA); GO_0007267 (EC: TAS, PMID: 2408883); GO_0007566 (EC: IDA, PMID: 17983652); GO_0007568 (EC: IEA); GO_0007631 (EC: IEA); GO_0008217 (EC: NAS, PMID: 1318039); GO_0009408 (EC: IEA); GO_0010523 (EC: IDA, PMID: 16014619); GO_0030279 (EC: IEA); GO_0030819 (EC: IDA, PMID: 10882736); GO_0031623 (EC: IDA, PMID: 10882736); GO_0031645 (EC: IEA); GO_0031716 (EC: IPI, PMID: 8078488); GO_0032147 (EC: IDA, PMID: 17983652); GO_0032403 (EC: IDA, PMID: 14722252); GO_0032730 (EC: IDA, PMID: 16904178); GO_0032757 (EC: IDA, PMID: 16904178); GO_0042802 (EC: IPI); GO_0043025 (EC: IEA); GO_0043195 (EC: IEA); GO_0043542 (EC: IDA, PMID: 17267696); GO_0045651 (EC: IDA, PMID: 10822112); GO_0045671 (EC: IDA, PMID: 10822112); GO_0045762 (EC: IDA, PMID: 11014233); GO_0045776 (EC: IDA, PMID: 10642343); GO_0045778 (EC: IEA); GO_0045779 (EC: IDA, PMID: 17241109); GO_0045892 (EC: IDA, PMID: 11014233); GO_0045909 (EC: IDA, PMID: 3266556); GO_0045986 (EC: IEA); GO_0048265 (EC: IEA); GO_0050727 (EC: IEA); GO_0050965 (EC: IEA); GO_0051480 (EC: IDA, PMID: 9685362); GO_0051482 (EC: IDA, PMID: 8078488) PMID: 1318039; 1326102; 1761559; 1988044; 2001366; 2039456; 2408883; 2571128; 2578663; 2983422; 3001670; 3034287; 3259294; 3266556; 3485540; 3492492; 3549095; 3872459; 5760861; 6132180; 6148938; 6327497; 6546550; 6609312; 6610687; 8078488; 8405394; 8468047; 8626685; 8940110; 9620797; 9685362; 10642343; 10754330; 10822112; 10882736; 11014233; 11185743; 11317366; 11337490; 11389975; 11803621; 12036966; 12063634; 12198603; 12213903; 12220731; 12231407; 12234182; 12359227; 12369791; 12446725; 12477932; 12517415; 12529288; 12540523; 12590613; 12594852; 12728303; 12871824; 12917321; 14586070; 14627864; 14654229; 14668209; 14684361; 14722252; 14745805; 14759258; 14984255; 15155765; 15168342; 15203218; 15248232; 15300632; 15319367; 15449935; 15489334; 15621724; 15696922; 15761041; 15761654; 15784626; 15880427; 16014619; 16236878; 16386179; 16439457; 16511394; 16531504; 16574742; 16597919; 16611736; 16710309; 16712930; 16720289; 16840549; 16890288; 16904178; 16996466; 17026622; 17038199; 17087112; 17101796; 17123735; 17149558; 17207965; 17241109; 17251226; 17267696; 17381353; 17441790; 17481780; 17485015; 17535749; 17552872; 17558349; 17669797; 17676478; 17689535; 17710246; 17785463; 17934713; 17941085; 17983652; 18000879; 18039931; 18057382; 18167349; 18180663; 18197882; 18211417; 18240029; 18295515; 18384419; 18403669; 18525431; 18556380; 18574663; 18577758; 18626012; 18779512; 18784182; 18941191; 18953261; 18959118; 19078972; 19086053; 19236383; 19282810; 19299090; 19440016; 19447044; 19453261; 19484659; 19485922; 19541012; 19541585; 19543500; 19589278; 19623026; 19685709; 19715516; 19736013; 19797133; 19829249; 19909213; 19913121; 20010500; 20046084; 20131075; 20143189; 20146868; 20146986; 20173430; 20214413; 20233513; 20375903; 20441469; 20530033; 20595156; 20628086; 20654671; 20654748; 20699253; 20803037; 20805714; 20832068; 20890583; 20929576; 20930646; 20959432; 21078153; 21083886; 21195698; 21211657; 21216873; 21219690; 21289592; 21352816; 21391919; 21423046; 21457239; 21541027; 21550738; 21658317; 21703310; 21778801; 21843355; 21937947; 21996233; 22019953; 22074408; 22079264; 22149667; 22200484; 22207498; 22208649; 22233274; 22371911; 22399852; 22429353; 22550867; 22561677; 22573121; 22607374; 22631226; 22652631; 22677443; 22685586; 22819536; 22898635; 22960196; 22961239; 23010746; 23086568; 23118979; 23123709; 23128457; 23214280; 23237777; 23313519; 23327335; 23356193; 23436675; 23461295; 23490535; 23510625; 23552643; 23580106; 23702052; 23722301; 23731651; 23799041; 23813138; 23835994; 23968948; 23975872; 24065474; 24081951; 24379064 calcitonin-related polypeptide alpha Ensembl:ENSG00000110680 HGNC:1437 HPRD:00238 MIM:114130 Vega:OTTHUMG00000159731 Other designations: alpha-type CGRP|calcitonin|calcitonin 1|calcitonin gene-related peptide I|calcitonin/calcitonin-related polypeptide, alpha|katacalcin CALCA Bin Zhao, Yue Liu, Oliver He ICE IL1BC P45 WEB: http://www.ncbi.nlm.nih.gov/gene CASP1 caspase 1, apoptosis-related cysteine peptidase 834 11q23 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0001666 (EC: IEA); GO_0004197 (EC: IBA); GO_0004197 (EC: TAS); GO_0005515 (EC: IPI, PMID: 11374873); GO_0005576 (EC: IEA); GO_0005737 (EC: IBA); GO_0005829 (EC: TAS); GO_0006508 (EC: IDA, PMID: 12888622); GO_0006915 (EC: TAS, PMID: 7876192); GO_0006919 (EC: TAS, PMID: 10799503); GO_0007165 (EC: TAS, PMID: 1373520); GO_0008656 (EC: TAS, PMID: 10799503); GO_0032496 (EC: IEA); GO_0032611 (EC: IEA); GO_0033198 (EC: IEA); GO_0035872 (EC: TAS); GO_0043123 (EC: IEP, PMID: 12761501); GO_0045087 (EC: TAS); GO_0050717 (EC: IEA); GO_0050718 (EC: IEA); GO_0050727 (EC: IBA); GO_0051882 (EC: IEA); GO_0060081 (EC: IEA); GO_0070269 (EC: IEA); GO_0071260 (EC: IEP, PMID: 19593445); GO_0071310 (EC: IDA, PMID: 19158679); GO_0072557 (EC: IBA); GO_0072557 (EC: ISS); GO_0072558 (EC: IDA, PMID: 12191486); GO_0072559 (EC: IDA, PMID: 15030775); GO_0097169 (EC: IDA, PMID: 19158676); GO_0097194 (EC: IBA) PMID: 1321594; 1373520; 1574116; 1919001; 7642516; 7721861; 7797510; 7876192; 8034320; 8035875; 8044845; 8125298; 8861900; 8962078; 8978814; 8999548; 9002959; 9070648; 9115219; 9190289; 9219695; 9250871; 9334240; 9334338; 9435230; 9535906; 9548463; 9593687; 9632733; 9705209; 9705938; 9727491; 9792675; 9804161; 9830039; 9875225; 9894612; 9987822; 9990034; 10069390; 10329646; 10353249; 10438581; 10477277; 10510468; 10660263; 10708425; 10799503; 11085743; 11226410; 11374873; 11390368; 11432859; 11437653; 11438643; 11472070; 11536016; 11684016; 11821383; 11953316; 11967258; 11997061; 12019269; 12096920; 12170183; 12191486; 12215842; 12387869; 12459189; 12459463; 12477932; 12628757; 12692130; 12761501; 12888622; 14584052; 14669344; 15030775; 15039421; 15107016; 15296730; 15326478; 15383541; 15471361; 15489334; 15498465; 15561713; 15749123; 15809717; 16037825; 16087165; 16123779; 16260731; 16286016; 16405550; 16428475; 16575408; 16621994; 16778130; 16780720; 16785446; 16817903; 16903774; 16920334; 17036048; 17173859; 17196042; 17207965; 17303764; 17360653; 17418785; 17477815; 17597823; 17623017; 17703412; 17959595; 18029348; 18209072; 18263705; 18263805; 18304957; 18329368; 18523309; 18550243; 18577712; 18590738; 18799371; 18828051; 18981155; 19013323; 19074885; 19117953; 19141860; 19158676; 19158679; 19258923; 19269008; 19275586; 19382257; 19414860; 19439663; 19573080; 19593445; 19648107; 19737897; 19773279; 19779610; 19825518; 19833722; 19913121; 20038581; 20048342; 20060974; 20170165; 20184726; 20197547; 20402676; 20485444; 20503287; 20628086; 20808838; 20852925; 20855536; 20959405; 21037509; 21048031; 21052690; 21311905; 21320026; 21463955; 21757759; 21792841; 21832064; 21862576; 21862623; 22046355; 22046441; 22195745; 22227487; 22491736; 22537218; 22833538; 22837397; 23021143; 23209292; 23226468; 23236067; 23278288; 23386603; 23508996; 23590971; 23637985; 23703390; 23793845; 23839215; 23884363; 24022484; 24356306 caspase 1, apoptosis-related cysteine peptidase Ensembl:ENSG00000137752 HGNC:1499 HPRD:00977 MIM:147678 Vega:OTTHUMG00000048072 Other designations: CASP1 nirs variant 1|IL-1 beta-converting enzyme|IL1B-convertase|caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)|caspase-1|interleukin 1, beta, convertase|interleukin 1-B converting enzyme CASP1 Bin Zhao, Yue Liu, Oliver He CPP32 CPP32B SCA-1 WEB: http://www.ncbi.nlm.nih.gov/gene CASP3 caspase 3, apoptosis-related cysteine peptidase 836 4q34 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0001782 (EC: IEA); GO_0001836 (EC: IEA); GO_0004190 (EC: EXP); GO_0004197 (EC: IDA, PMID: 19240112); GO_0004197 (EC: TAS); GO_0004861 (EC: IEA); GO_0005515 (EC: IPI, PMID: 16501604); GO_0005634 (EC: IDA, PMID: 17167422); GO_0005654 (EC: TAS); GO_0005829 (EC: IDA, PMID: 17167422); GO_0005829 (EC: TAS); GO_0005886 (EC: TAS); GO_0006309 (EC: TAS); GO_0006508 (EC: IDA, PMID: 12888622); GO_0006915 (EC: TAS); GO_0006921 (EC: TAS); GO_0006974 (EC: IEA); GO_0007507 (EC: IEA); GO_0007605 (EC: IEA); GO_0008233 (EC: IDA, PMID: 17167422); GO_0008625 (EC: IEA); GO_0008631 (EC: IEA); GO_0008635 (EC: TAS); GO_0009411 (EC: IEA); GO_0009611 (EC: IEA); GO_0022617 (EC: TAS); GO_0030182 (EC: IBA); GO_0030198 (EC: TAS); GO_0030216 (EC: IBA); GO_0030218 (EC: IDA, PMID: 17167422); GO_0030218 (EC: TAS, PMID: 18309324); GO_0030220 (EC: TAS, PMID: 18309324); GO_0030889 (EC: IEA); GO_0034349 (EC: IEA); GO_0034612 (EC: TAS, PMID: 10521396); GO_0035329 (EC: TAS); GO_0042981 (EC: TAS); GO_0043029 (EC: IEA); GO_0043065 (EC: TAS); GO_0043066 (EC: IGI, PMID: 9353287); GO_0043281 (EC: TAS); GO_0043525 (EC: IEA); GO_0045165 (EC: IEA); GO_0045736 (EC: IEA); GO_0046007 (EC: IEA); GO_0048011 (EC: TAS); GO_0051402 (EC: IEA); GO_0097153 (EC: IMP, PMID: 10921886); GO_0097190 (EC: TAS, PMID: 10521396); GO_0097192 (EC: IEA); GO_0097193 (EC: TAS); GO_0097194 (EC: IDA, PMID: 8689682); GO_0097194 (EC: IMP, PMID: 11350920); GO_0097200 (EC: IMP, PMID: 17559062) PMID: 1067155; 7596430; 7774019; 7983002; 8044845; 8605870; 8626669; 8673606; 8689682; 8696339; 8755496; 8780721; 8804412; 8812467; 8900201; 8943232; 8962078; 8976194; 9021152; 9045680; 9108473; 9115219; 9206994; 9208847; 9219695; 9230442; 9233763; 9235961; 9252332; 9267021; 9278461; 9298992; 9323209; 9326610; 9334214; 9334240; 9334338; 9337844; 9348292; 9351817; 9353287; 9361003; 9367996; 9368003; 9384571; 9395403; 9422780; 9452471; 9525868; 9535906; 9545236; 9548463; 9593687; 9618490; 9624143; 9632733; 9660939; 9671712; 9685336; 9694885; 9705209; 9708895; 9736630; 9751706; 9786869; 9799125; 9811849; 9840926; 9850056; 9857079; 9875225; 9878167; 9894612; 9933635; 9990034; 10022118; 10066732; 10069390; 10082566; 10103059; 10200531; 10205158; 10205159; 10319819; 10364179; 10409750; 10430052; 10432301; 10435619; 10438581; 10454555; 10469173; 10479680; 10490026; 10510468; 10521396; 10556977; 10564664; 10579725; 10602493; 10602513; 10608812; 10611247; 10629060; 10671544; 10672017; 10675528; 10704341; 10708425; 10712510; 10713703; 10734073; 10748026; 10770929; 10777594; 10791974; 10799874; 10821855; 10823823; 10862606; 10896157; 10899937; 10921886; 10926122; 10942389; 10998058; 11002417; 11016947; 11024045; 11042212; 11053413; 11058115; 11076937; 11084335; 11098060; 11106668; 11123279; 11141237; 11149901; 11162250; 11162351; 11170436; 11175261; 11177389; 11222676; 11230124; 11242052; 11248093; 11257230; 11257232; 11261798; 11274152; 11278283; 11278287; 11278424; 11278572; 11278782; 11278797; 11283607; 11313965; 11331419; 11345898; 11350920; 11356849; 11359776; 11387340; 11399776; 11420704; 11423904; 11425872; 11437602; 11438643; 11447297; 11462036; 11470874; 11478781; 11479289; 11500511; 11509621; 11514563; 11517310; 11526478; 11550094; 11551979; 11555640; 11602184; 11675509; 11689006; 11696595; 11741893; 11748221; 11752060; 11752215; 11787859; 11788610; 11795487; 11802788; 11815631; 11825902; 11830582; 11832478; 11840332; 11854437; 11859414; 11866986; 11875078; 11901153; 11904443; 11927604; 11948397; 11960384; 11972398; 11981455; 11988074; 11989976; 11992386; 12004072; 12019321; 12032677; 12036886; 12044963; 12055227; 12070005; 12070657; 12080079; 12095993; 12107159; 12112012; 12118383; 12124386; 12145703; 12149654; 12150947; 12151338; 12169388; 12181128; 12181742; 12186978; 12190962; 12207967; 12210761; 12228224; 12235123; 12297281; 12390838; 12393901; 12397210; 12401855; 12404116; 12425945; 12438416; 12444137; 12477932; 12483536; 12490308; 12511568; 12515825; 12566444; 12576296; 12576443; 12579342; 12581734; 12598529; 12605885; 12606589; 12611892; 12621124; 12624662; 12643601; 12657644; 12677451; 12686427; 12700630; 12700660; 12707329; 12750393; 12750404; 12760639; 12787561; 12788227; 12788938; 12792782; 12804035; 12809603; 12821118; 12824190; 12833566; 12837287; 12854132; 12867600; 12874324; 12888622; 12897143; 14555204; 14570914; 14572611; 14612448; 14623896; 14657946; 14674699; 14678329; 14684629; 14710359; 14764700; 14960581; 14970175; 14971566; 14976035; 14982947; 14991812; 14993250; 15014070; 15015772; 15033720; 15033815; 15041704; 15087450; 15098015; 15153940; 15156398; 15178331; 15179054; 15186778; 15187159; 15200957; 15204919; 15205454; 15220451; 15241180; 15246206; 15254227; 15258591; 15280469; 15345747; 15375594; 15473998; 15489334; 15505416; 15507451; 15542841; 15564512; 15569669; 15569672; 15569692; 15578977; 15599395; 15617521; 15637055; 15638357; 15650747; 15657349; 15657356; 15670787; 15705385; 15706351; 15716280; 15725353; 15735701; 15748158; 15748808; 15767427; 15803189; 15806167; 15843892; 15848173; 15869582; 15935070; 15996160; 16009347; 16080782; 16083554; 16111829; 16120388; 16121124; 16179347; 16203739; 16204230; 16213496; 16227597; 16242324; 16286477; 16300929; 16320828; 16330530; 16337360; 16338743; 16344560; 16382148; 16455648; 16463650; 16480911; 16498457; 16501604; 16505307; 16511342; 16516911; 16520893; 16526059; 16529748; 16530181; 16530191; 16543147; 16567804; 16651613; 16689860; 16716256; 16781734; 16787777; 16791842; 16802364; 16808908; 16835231; 16869888; 16882668; 16884727; 16894574; 16897667; 16931214; 16935258; 16948902; 16949642; 16955788; 16977583; 16979168; 16983089; 17008916; 17013756; 17013758; 17023557; 17038954; 17065568; 17069460; 17071630; 17080552; 17114647; 17118559; 17121821; 17123522; 17124493; 17130234; 17140287; 17141888; 17143787; 17167422; 17172814; 17198755; 17217622; 17219053; 17235653; 17245643; 17261582; 17272816; 17283187; 17291493; 17301822; 17321792; 17324936; 17337451; 17340613; 17364171; 17379327; 17412564; 17413988; 17430778; 17436592; 17437405; 17462862; 17488272; 17495975; 17498346; 17505517; 17525639; 17534194; 17544405; 17559062; 17597071; 17606719; 17606900; 17616526; 17645689; 17653867; 17689858; 17698513; 17721932; 17724022; 17805550; 17823127; 17880920; 17908973; 17928446; 17936584; 17950632; 17967742; 17978580; 17981569; 17983802; 17989718; 18000616; 18029348; 18047842; 18054197; 18055116; 18058802; 18060501; 18074388; 18083346; 18086147; 18088367; 18092356; 18155705; 18155731; 18164959; 18171980; 18209072; 18211414; 18227733; 18256758; 18256791; 18266005; 18296636; 18297401; 18298948; 18300076; 18309324; 18330265; 18379198; 18381704; 18384375; 18415681; 18415689; 18427836; 18439040; 18441516; 18450750; 18473402; 18476631; 18521960; 18551626; 18561948; 18577580; 18585351; 18586680; 18623086; 18652315; 18658137; 18669646; 18676680; 18708163; 18712678; 18723680; 18727869; 18754867; 18759060; 18763039; 18768468; 18814044; 18818379; 18820371; 18821563; 18829519; 18838202; 18844072; 18946722; 18986328; 19013323; 19035131; 19043361; 19046417; 19052714; 19058789; 19074885; 19132366; 19141860; 19157504; 19157506; 19159073; 19170196; 19178812; 19200347; 19204086; 19219602; 19223905; 19236754; 19240112; 19241192; 19244543; 19258326; 19266703; 19269008; 19270727; 19272183; 19275584; 19275586; 19275587; 19281794; 19283487; 19289465; 19299722; 19319745; 19322201; 19351510; 19355923; 19379562; 19404232; 19414860; 19453261; 19458171; 19513559; 19519609; 19531679; 19544333; 19549685; 19550122; 19553679; 19557639; 19559790; 19567200; 19570417; 19573080; 19585117; 19598027; 19604093; 19610261; 19625176; 19626422; 19636556; 19655253; 19655254; 19655415; 19665028; 19692168; 19692467; 19698783; 19698994; 19715609; 19723039; 19724860; 19724907; 19730442; 19738422; 19759058; 19770576; 19770581; 19773279; 19774677; 19784808; 19788069; 19788411; 19807657; 19812265; 19826114; 19838207; 19840460; 19854241; 19878567; 19895210; 19913121; 19925402; 19937139; 19942343; 19956888; 19996122; 19996272; 19996275; 19996278; 20001963; 20012528; 20025478; 20038816; 20041182; 20042134; 20045442; 20060927; 20063052; 20068062; 20072652; 20085765; 20087649; 20101263; 20103643; 20104682; 20142237; 20150439; 20180022; 20198319; 20227371; 20299368; 20307198; 20340172; 20346214; 20383567; 20402676; 20404718; 20423928; 20424172; 20450729; 20453000; 20492341; 20512574; 20530714; 20566630; 20580881; 20598358; 20619728; 20628086; 20628645; 20632819; 20644561; 20661084; 20665667; 20667824; 20683021; 20683843; 20702410; 20722551; 20723300; 20738749; 20801175; 20814064; 20839416; 20855536; 20856198; 20862799; 20919853; 20929126; 20947770; 20950443; 20959405; 20962079; 20966960; 20981869; 21029675; 21048031; 21081164; 21098975; 21099290; 21099299; 21123175; 21123558; 21139048; 21142842; 21148072; 21151026; 21160486; 21178828; 21203962; 21216952; 21223758; 21237154; 21248767; 21255440; 21270757; 21307660; 21317880; 21319273; 21382445; 21441410; 21479362; 21483469; 21483669; 21484410; 21504623; 21506333; 21548803; 21555338; 21561870; 21624464; 21644054; 21644232; 21667042; 21668377; 21671484; 21682651; 21700414; 21706480; 21724551; 21725926; 21729540; 21756903; 21775054; 21785112; 21802116; 21819468; 21827945; 21859712; 21869592; 21875325; 21880013; 21890473; 21914347; 21926353; 21944661; 21959934; 21963094; 21987091; 21988832; 22013052; 22072751; 22094081; 22121772; 22136337; 22147199; 22184067; 22191568; 22216281; 22238643; 22242595; 22298410; 22302483; 22309278; 22320973; 22429811; 22429842; 22482362; 22496955; 22504224; 22541080; 22552851; 22568453; 22607239; 22629415; 22678593; 22683311; 22764223; 22796265; 22815893; 22832123; 22837201; 22844442; 22872644; 22885173; 22912727; 22926545; 22931643; 22939953; 22944165; 22949938; 22951837; 22952982; 22964638; 23000965; 23054082; 23103707; 23122728; 23152053; 23156805; 23170075; 23170789; 23220614; 23221544; 23271051; 23271418; 23295106; 23326121; 23345589; 23384723; 23386603; 23416147; 23421973; 23519117; 23531593; 23545262; 23555267; 23568731; 23591201; 23599180; 23650375; 23658722; 23686572; 23703388; 23708668; 23724505; 23765963; 23775301; 23781587; 23791066; 23846227; 23867824; 23892923; 23894522; 23900644; 23907941; 23949910; 23979166; 24009453; 24129493; 24161344; 24553140 caspase 3, apoptosis-related cysteine peptidase Ensembl:ENSG00000164305 HGNC:1504 HPRD:02799 MIM:600636 Vega:OTTHUMG00000133681 Other designations: CASP-3|CPP-32|PARP cleavage protease|SREBP cleavage activity 1|apopain|caspase 3, apoptosis-related cysteine protease|caspase-3|cysteine protease CPP32|procaspase3|protein Yama CASP3 Bin Zhao, Yue Liu, Oliver He CAR EIG8 FHH FIH GPRC2A HHC HHC1 HYPOC1 NSHPT PCAR1 WEB: http://www.ncbi.nlm.nih.gov/gene CASR calcium-sensing receptor 846 3q13 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0001503 (EC: TAS, PMID: 7874174); GO_0004435 (EC: TAS, PMID: 7874174); GO_0004930 (EC: IEA); GO_0005513 (EC: TAS, PMID: 7759551); GO_0005515 (EC: IPI); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 7759551); GO_0006874 (EC: TAS, PMID: 7874174); GO_0007186 (EC: TAS, PMID: 7759551); GO_0007635 (EC: TAS, PMID: 7759551); GO_0008152 (EC: TAS, PMID: 7874174); GO_0009653 (EC: TAS, PMID: 7916660); GO_0070509 (EC: IDA) PMID: 7673400; 7677761; 7726161; 7759551; 7874174; 7916660; 8597637; 8613532; 8675635; 8702647; 8733126; 8756555; 9168937; 9217223; 9298824; 9677383; 9694886; 9722601; 9852126; 9920108; 9920407; 10405337; 10487661; 11013439; 11095989; 11108243; 11161843; 11248745; 11390379; 11390380; 11589681; 11668634; 11762699; 11863123; 11889154; 11889203; 11907035; 11979955; 11984699; 12018449; 12036954; 12040821; 12050233; 12052452; 12095982; 12150336; 12239240; 12241879; 12356761; 12399473; 12409307; 12459170; 12469911; 12477932; 12517779; 12544508; 12574201; 12605346; 12656660; 12700051; 12773131; 12783889; 12890593; 12899245; 12914574; 14508624; 14660633; 14713274; 14729680; 14976203; 14985373; 15201280; 15219850; 15472173; 15489334; 15501733; 15531522; 15551332; 15572418; 15579475; 15591042; 15598778; 15613438; 15637145; 15657061; 15684428; 15718278; 15781005; 15805541; 15837785; 15864123; 15879434; 15888439; 15960151; 16109841; 16117875; 16147994; 16218047; 16278666; 16472767; 16497624; 16509534; 16513638; 16596260; 16598859; 16616098; 16622736; 16642557; 16735501; 16738533; 16740430; 16754659; 16854379; 16938272; 17018660; 17046587; 17054460; 17062884; 17097611; 17110864; 17122384; 17124506; 17132283; 17138967; 17284438; 17309124; 17310098; 17320849; 17331389; 17332735; 17372216; 17374704; 17374709; 17426287; 17463182; 17473068; 17478419; 17482347; 17513419; 17537980; 17555508; 17591780; 17623778; 17698911; 17853337; 17932932; 17962359; 17974568; 17979873; 18065418; 18240029; 18296474; 18322048; 18328986; 18348986; 18393231; 18410554; 18443236; 18497443; 18525093; 18577758; 18621740; 18622738; 18676680; 18680227; 18703641; 18712808; 18751724; 18756473; 18796518; 18843020; 18852253; 18938753; 18980667; 19011996; 19035514; 19038444; 19058262; 19066294; 19073830; 19088423; 19133942; 19151705; 19157541; 19170196; 19179454; 19237714; 19257819; 19285978; 19328421; 19350667; 19389809; 19397786; 19423559; 19432691; 19453261; 19471101; 19474519; 19580466; 19621386; 19625176; 19640368; 19690432; 19692168; 19695239; 19706842; 19716891; 19789209; 19839774; 19887834; 19912241; 19913121; 19915295; 20034274; 20067903; 20130845; 20164288; 20237496; 20361938; 20364112; 20421307; 20424473; 20457124; 20558521; 20558539; 20595056; 20602573; 20628086; 20631026; 20634891; 20648625; 20654748; 20661308; 20668040; 20697181; 20705733; 20798521; 20826781; 20846291; 21048031; 21082232; 21084311; 21130730; 21183554; 21187282; 21209619; 21240254; 21317879; 21340433; 21369680; 21393549; 21414629; 21441391; 21532883; 21566074; 21645025; 21667241; 21843504; 21965686; 21966463; 22010828; 22024717; 22094462; 22107799; 22144504; 22158862; 22187299; 22192860; 22210744; 22278364; 22315359; 22403735; 22422767; 22424352; 22449852; 22577108; 22730443; 22789683; 22798347; 23009664; 23103379; 23108190; 23125333; 23169696; 23228129; 23247143; 23269116; 23271661; 23287098; 23300272; 23334987; 23372019; 23533647; 23552627; 23555732; 23569134; 23639611; 23674327; 23756480; 23764372; 23817301; 23856265; 23860708; 23864702; 23913941; 23917029; 23946278; 24068962; 24120622; 24238055; 24336654; 24455835 calcium-sensing receptor Ensembl:ENSG00000036828 HGNC:1514 HPRD:03122 MIM:601199 Vega:OTTHUMG00000159491 Other designations: extracellular calcium-sensing receptor|parathyroid Ca(2+)-sensing receptor 1|parathyroid cell calcium-sensing receptor 1 CASR Bin Zhao, Yue Liu, Oliver He AML2 CBFA3 PEBP2aC WEB: http://www.ncbi.nlm.nih.gov/gene RUNX3 runt-related transcription factor 3 864 RP3-398I9.1 1p36 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0000122 (EC: ISS); GO_0000790 (EC: ISS); GO_0000977 (EC: ISS); GO_0000981 (EC: ISS); GO_0002062 (EC: IEA); GO_0003700 (EC: TAS, PMID: 7607690); GO_0005515 (EC: IPI, PMID: 18772112); GO_0005524 (EC: NAS, PMID: 7835892); GO_0005634 (EC: IDA); GO_0005737 (EC: IDA); GO_0006355 (EC: NAS, PMID: 7622058); GO_0006366 (EC: TAS, PMID: 7607690); GO_0006468 (EC: IDA); GO_0007411 (EC: IEA); GO_0031069 (EC: IEA); GO_0032609 (EC: IEA); GO_0045786 (EC: ISS); GO_0048469 (EC: IEA); GO_0048935 (EC: TAS); GO_0050680 (EC: ISS); GO_2001238 (EC: IEA) PMID: 7607690; 7622058; 7835892; 8437866; 9751710; 10228168; 10531362; 11733147; 11955451; 12477932; 12824905; 12855590; 12875960; 12907736; 14702039; 14715269; 14760761; 15051926; 15138260; 15273736; 15331439; 15386419; 15489334; 15688019; 15728469; 15778373; 15780064; 15819721; 15824739; 16080503; 16091737; 16135801; 16140942; 16142337; 16155404; 16234815; 16328045; 16344560; 16367921; 16373335; 16442267; 16582583; 16627973; 16652147; 16684349; 16710414; 16767156; 16818622; 16887969; 16984612; 17195845; 17353931; 17380460; 17384682; 17470130; 17471240; 17584746; 17591800; 17591929; 17606310; 17914577; 17923751; 17956589; 18029348; 18058463; 18097595; 18256927; 18259121; 18288406; 18323800; 18349282; 18426645; 18430739; 18475302; 18494051; 18500170; 18572225; 18580070; 18636364; 18639281; 18663147; 18668679; 18676844; 18684727; 18717361; 18772112; 18850007; 18937968; 18949360; 18953836; 19012242; 19015875; 19159630; 19174785; 19223906; 19290488; 19336521; 19351720; 19403666; 19470943; 19521519; 19552756; 19571605; 19596937; 19603429; 19645591; 19695681; 19706291; 19727221; 19728008; 19800882; 19808967; 19827872; 19886737; 19917773; 19933870; 20100835; 20160714; 20190752; 20211142; 20228843; 20236534; 20300977; 20306685; 20353948; 20392673; 20442291; 20467438; 20492341; 20599712; 20615577; 20631058; 20676134; 20677014; 20682997; 20714105; 20801098; 20887385; 20955380; 21088106; 21105967; 21109941; 21128246; 21135153; 21205092; 21205319; 21223798; 21223819; 21254652; 21288908; 21302620; 21354923; 21511279; 21523770; 21567090; 21567391; 21612813; 21637926; 21640801; 21656750; 21658745; 21678419; 21706051; 21743469; 21756810; 21781566; 21803306; 21819494; 21867527; 21873791; 21906983; 21914347; 21922326; 21942099; 21956756; 22068036; 22076387; 22179198; 22231444; 22234069; 22246363; 22253448; 22266963; 22274925; 22275124; 22296371; 22311819; 22457727; 22479382; 22488108; 22505724; 22544322; 22576578; 22580604; 22699781; 22729835; 22734230; 22846564; 22883670; 23000965; 23086478; 23104301; 23243425; 23266558; 23269881; 23294722; 23401011; 23457532; 23555166; 23637848; 23648294; 23664167; 23724145; 23774402; 23874686; 23886181; 23912048; 23932924; 24002642; 24229708; 24403453 runt-related transcription factor 3 Ensembl:ENSG00000020633 HGNC:10473 HPRD:02565 MIM:600210 Vega:OTTHUMG00000003316 Other designations: CBF-alpha-3|PEA2 alpha C|PEA2-alpha C|PEBP2 alpha C|PEBP2-alpha C|SL3-3 enhancer factor 1 alpha C subunit|SL3/AKV core-binding factor alpha C subunit|acute myeloid leukemia 2 protein|acute myeloid leukemia gene 2|core-binding factor subunit alpha-3|core-binding factor, runt domain, alpha subunit 3|oncogene AML-2|polyomavirus enhancer-binding protein 2 alpha C subunit|transcription factor AML2 RUNX3 Bin Zhao, Yue Liu, Oliver He CCNB WEB: http://www.ncbi.nlm.nih.gov/gene CCNB1 cyclin B1 891 5q12 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0000079 (EC: IEA); GO_0000082 (EC: TAS); GO_0000086 (EC: TAS); GO_0000278 (EC: TAS); GO_0000922 (EC: IDA, PMID: 18195732); GO_0000942 (EC: IDA, PMID: 18195732); GO_0001556 (EC: IEA); GO_0001701 (EC: IEA); GO_0001933 (EC: IEA); GO_0005113 (EC: IPI, PMID: 11331587); GO_0005515 (EC: IPI, PMID: 10373560); GO_0005634 (EC: IDA, PMID: 11331587); GO_0005654 (EC: TAS); GO_0005737 (EC: IDA); GO_0005813 (EC: IDA, PMID: 12524548); GO_0005829 (EC: TAS); GO_0006461 (EC: IEA); GO_0006468 (EC: IEA); GO_0007077 (EC: TAS); GO_0007080 (EC: IMP, PMID: 18195732); GO_0007283 (EC: IEA); GO_0009612 (EC: IEA); GO_0010629 (EC: IEA); GO_0016020 (EC: IEA); GO_0016301 (EC: IEA); GO_0019901 (EC: IPI, PMID: 12524548); GO_0031145 (EC: TAS); GO_0031442 (EC: IEA); GO_0033129 (EC: IEA); GO_0042246 (EC: IEA); GO_0042493 (EC: IEA); GO_0043148 (EC: IMP, PMID: 18195732); GO_0045931 (EC: IMP, PMID: 18195732); GO_0046680 (EC: IEA); GO_0048565 (EC: IEA); GO_0051437 (EC: TAS); GO_0051439 (EC: TAS); GO_0051726 (EC: TAS); GO_0051987 (EC: IMP, PMID: 18195732); GO_0055015 (EC: IEA); GO_0060045 (EC: IEA); GO_0060623 (EC: IEA); GO_0071174 (EC: IMP, PMID: 18195732); GO_0071283 (EC: IEA); GO_0071398 (EC: IEA); GO_0071407 (EC: IEA); GO_0071456 (EC: IEA) PMID: 1384126; 1386342; 1387877; 1717476; 1828290; 1836978; 2570636; 7474080; 7474100; 7494303; 7666531; 7737117; 7769006; 7799941; 7843284; 7876309; 7903056; 8070405; 8101826; 8397206; 8397207; 8402895; 8463339; 8475101; 8524869; 8662825; 8756624; 8889548; 9001210; 9053846; 9094673; 9244350; 9247342; 9315635; 9499405; 9515786; 9520381; 9560267; 9679058; 9813064; 9885575; 9891079; 9926943; 10339564; 10362260; 10373560; 10395539; 10421840; 10581175; 10716937; 10793135; 10799291; 10864927; 10958988; 10973963; 10995390; 11113184; 11238118; 11242082; 11259605; 11260656; 11278247; 11285280; 11310559; 11331587; 11444800; 11531413; 11559705; 11562349; 11572993; 11598127; 11642719; 11691994; 11732576; 11751633; 11779217; 11809526; 11836499; 11878934; 11960377; 12009577; 12054478; 12068134; 12097298; 12115375; 12124778; 12200597; 12379461; 12397081; 12424202; 12447691; 12468530; 12477932; 12483522; 12515609; 12524548; 12586340; 12612082; 12676926; 12684677; 12738867; 12775724; 12791267; 12839990; 12865421; 14645578; 14701726; 14760118; 14993212; 15016823; 15024056; 15181148; 15215233; 15256223; 15265780; 15489334; 15541388; 15623561; 15635413; 15654331; 15710382; 15749827; 15767402; 15790566; 15916961; 15931389; 15989971; 16009132; 16082198; 16109376; 16142332; 16159883; 16221667; 16226712; 16237118; 16273239; 16275333; 16322753; 16407259; 16474839; 16478538; 16479161; 16557593; 16614707; 16751065; 16784539; 16799550; 16880739; 16921029; 17098733; 17167975; 17242184; 17242210; 17274640; 17327911; 17359284; 17359356; 17360335; 17373649; 17386261; 17388661; 17389604; 17408621; 17431037; 17445807; 17466630; 17472438; 17495531; 17495533; 17513602; 17533373; 17586317; 17598982; 17655707; 17668170; 17679094; 17850284; 17881737; 18048386; 18059335; 18195732; 18281511; 18337751; 18353325; 18372919; 18408012; 18414058; 18445273; 18471975; 18491248; 18591933; 18593994; 18652313; 18671143; 18692784; 18799590; 18820706; 19028417; 19134343; 19162005; 19275580; 19275586; 19293801; 19344781; 19369249; 19458171; 19470724; 19475398; 19505905; 19608149; 19609944; 19614764; 19666607; 19724852; 19738611; 19763267; 19786724; 19820702; 19825974; 19826003; 19855194; 19968870; 20080579; 20095356; 20097574; 20103625; 20126263; 20160477; 20169205; 20171170; 20228808; 20334896; 20360007; 20360068; 20367638; 20368335; 20383333; 20404109; 20412769; 20453000; 20508983; 20526282; 20660152; 20661218; 20733051; 20733055; 20808790; 20810654; 20890132; 20927403; 20937773; 20956543; 20965177; 20974803; 21120602; 21139048; 21145461; 21148318; 21174181; 21241890; 21264543; 21276999; 21336306; 21379580; 21488187; 21489275; 21504622; 21525341; 21569376; 21596315; 21871181; 21890473; 21900495; 21900748; 21906983; 21925791; 21952639; 21963094; 21965721; 22014574; 22024040; 22024133; 22071694; 22137483; 22157815; 22158041; 22163316; 22193957; 22253775; 22266860; 22286100; 22391203; 22482362; 22508987; 22529100; 22532137; 22552851; 22580043; 22682366; 22726437; 22905155; 22939629; 22949227; 22965228; 23007861; 23091007; 23114644; 23239745; 23253261; 23383273; 23455922; 23460259; 23505570; 23602568; 23708605; 23775624; 23791783; 23874748; 23979597; 24145166; 24163370; 24248602; 24250222 cyclin B1 Ensembl:ENSG00000134057 HGNC:1579 HPRD:00454 MIM:123836 Vega:OTTHUMG00000097817 Other designations: G2/mitotic-specific cyclin B1|G2/mitotic-specific cyclin-B1 CCNB1 Bin Zhao, Yue Liu, Oliver He BDCA1 CD1 CD1A R7 WEB: http://www.ncbi.nlm.nih.gov/gene CD1C CD1c molecule 911 RP11-101J8.3 1q23.1 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0002286 (EC: IDA); GO_0005886 (EC: TAS, PMID: 2447586); GO_0005887 (EC: TAS, PMID: 1702817); GO_0010008 (EC: IEA); GO_0030881 (EC: IBA); GO_0030883 (EC: IDA); GO_0030884 (EC: IDA); GO_0048007 (EC: IBA); GO_0051861 (EC: IDA); GO_0071723 (EC: IDA) PMID: 1702817; 2447586; 2583117; 2701945; 3097645; 7517559; 8125298; 8729450; 10488738; 10626896; 10786796; 10890914; 10899914; 11145857; 11580851; 12415264; 12454749; 12477932; 12486100; 14551186; 15032598; 15489334; 15556687; 15611286; 15749918; 16272286; 16710414; 18287231; 18337560; 18624350; 19468063; 19556741; 19828201; 20237496; 20888334; 21436634; 21451111; 21900247; 22678905; 22888216; 23347583; 23468110; 23530121; 23677998; 23766460; 23829893; 24049150 CD1c molecule Ensembl:ENSG00000158481 HGNC:1636 HPRD:01772 MIM:188340 Vega:OTTHUMG00000017514 Other designations: CD1C antigen, c polypeptide|T-cell surface glycoprotein CD1c|cortical thymocyte antigen CD1C|differentiation antigen CD1-alpha-3 CD1C Bin Zhao, Yue Liu, Oliver He CD1A R2 WEB: http://www.ncbi.nlm.nih.gov/gene CD1E CD1e molecule 913 RP11-101J8.5 1q23.1 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0000139 (EC: IEA); GO_0005769 (EC: IEA); GO_0005770 (EC: IEA); GO_0005887 (EC: NAS, PMID: 2467814); GO_0006955 (EC: NAS, PMID: 2467814); GO_0030881 (EC: IBA); GO_0030883 (EC: IBA); GO_0030884 (EC: IBA); GO_0043202 (EC: IEA); GO_0048007 (EC: IBA); GO_0071723 (EC: IBA) PMID: 2467814; 2583117; 3053166; 3097645; 7566098; 10488738; 10948205; 11019917; 11580851; 12144626; 12477932; 12671734; 15032598; 15752135; 16311334; 16344560; 16820217; 17428545; 18208508; 18325888; 18838176; 19196239; 20954848; 21481186; 21496400; 21696499; 21788486; 21844346; 22003931; 22505724; 22782895; 22880058; 23677998 CD1e molecule Ensembl:ENSG00000158488 HGNC:1638 HPRD:01781 MIM:188411 Vega:OTTHUMG00000017515 Other designations: CD1E antigen, e polypeptide|R2G1|T-cell surface glycoprotein CD1e, membrane-associated|differentiation antigen CD1-alpha-3|hCD1e|leukocyte differentiation antigen|thymocyte antigen CD1E CD1E Bin Zhao, Yue Liu, Oliver He CD3-DELTA IMD19 T3D WEB: http://www.ncbi.nlm.nih.gov/gene CD3D CD3d molecule, delta (CD3-TCR complex) 915 11q23 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0003713 (EC: IDA, PMID: 2017177); GO_0004888 (EC: IC, PMID: 9485181); GO_0005737 (EC: NAS, PMID: 1831653); GO_0005886 (EC: TAS); GO_0007166 (EC: IC, PMID: 9485181); GO_0016021 (EC: IEA); GO_0030217 (EC: IDA, PMID: 2017177); GO_0031295 (EC: TAS); GO_0042101 (EC: IDA, PMID: 8176201); GO_0042101 (EC: NAS, PMID: 9485181); GO_0042105 (EC: IEA); GO_0045059 (EC: ISS); GO_0045944 (EC: IDA, PMID: 2017177); GO_0046982 (EC: IPI, PMID: 9485181); GO_0050776 (EC: TAS); GO_0050852 (EC: TAS) PMID: 1372642; 1385321; 1826255; 1831653; 1832084; 1979339; 2017177; 2111780; 2138083; 2540970; 2826124; 2859526; 2939461; 3478717; 3488209; 6095101; 7495730; 7506554; 7517794; 7539755; 7719941; 7774645; 8020575; 8125527; 8145026; 8176201; 8278814; 8621641; 8809126; 9045614; 9263011; 9485181; 9510190; 9582308; 9743208; 10722370; 11048639; 11827988; 12215456; 12410792; 12477932; 12522270; 12604782; 14602880; 15028279; 15144186; 15331598; 15489334; 15489916; 15534202; 15546002; 15592455; 15778375; 16094384; 16407162; 16412509; 16777597; 16822850; 16888097; 17001685; 17023417; 17176095; 17502376; 17632570; 17652306; 17872946; 17923503; 17928336; 18473783; 18541215; 18803280; 18808677; 19056690; 19222422; 19724882; 19726522; 19759518; 19942855; 20012528; 20179761; 20237496; 20478055; 20511557; 20594957; 20660709; 20824090; 21669053; 21669059; 21670311; 21926461; 21984702; 22103833; 22401598; 22505724; 22911005; 23336327 CD3d molecule, delta (CD3-TCR complex) Ensembl:ENSG00000167286 HGNC:1673 HPRD:01730 MIM:186790 Vega:OTTHUMG00000166970 Other designations: CD3 antigen, delta subunit|CD3 delta|CD3d antigen, delta polypeptide (TiT3 complex)|OKT3, delta chain|T-cell receptor T3 delta chain|T-cell surface glycoprotein CD3 delta chain CD3D Bin Zhao, Yue Liu, Oliver He CD3-GAMMA IMD17 T3G WEB: http://www.ncbi.nlm.nih.gov/gene CD3G CD3g molecule, gamma (CD3-TCR complex) 917 11q23 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0004888 (EC: IMP, PMID: 12794121); GO_0005886 (EC: TAS); GO_0005887 (EC: NAS, PMID: 9485181); GO_0006461 (EC: NAS, PMID: 12794121); GO_0007163 (EC: IMP, PMID: 12407027); GO_0007166 (EC: IMP, PMID: 12407027); GO_0015031 (EC: IMP, PMID: 12794121); GO_0030159 (EC: NAS, PMID: 12794121); GO_0031295 (EC: TAS); GO_0038096 (EC: TAS); GO_0042101 (EC: NAS, PMID: 9485181); GO_0042105 (EC: IEA); GO_0042110 (EC: NAS, PMID: 12407027); GO_0042608 (EC: NAS, PMID: 11186279); GO_0045087 (EC: TAS); GO_0046982 (EC: IPI, PMID: 9485181); GO_0050776 (EC: TAS); GO_0050852 (EC: TAS); GO_0070228 (EC: IMP, PMID: 12407027) PMID: 1385321; 1387664; 1535555; 1635567; 1709425; 1826255; 1832084; 1979339; 2111780; 2138083; 2139676; 2540970; 2547833; 2826124; 2944745; 3112151; 3478717; 7506554; 7517794; 7533164; 7539755; 7774645; 8125298; 8125527; 8145026; 8636209; 8809126; 9045614; 9263011; 9485181; 9510190; 9582308; 9743208; 10722370; 11048639; 11186279; 11298321; 11827988; 12374807; 12407027; 12410792; 12477932; 12794121; 15459203; 15489334; 15489916; 15638726; 15778375; 15879122; 16094384; 16344560; 16777597; 16888097; 16888650; 16916653; 17001685; 17023417; 17176095; 17632570; 17652306; 17822534; 17923503; 17928336; 18051367; 18473783; 18541215; 18808677; 18815285; 19056690; 19536290; 19724882; 19726522; 19759518; 19860678; 19898481; 20012528; 20179761; 20237496; 20478055; 20511557; 20594957; 20660709; 20824090; 21669053; 21669059; 21670311; 21764047; 21984702; 22401598; 22482414; 22505724; 22731821; 22911005; 23336327; 23348211; 23590417 CD3g molecule, gamma (CD3-TCR complex) HGNC:1675 HPRD:07037 MIM:186740 Other designations: CD3g antigen, gamma polypeptide (TiT3 complex)|CD3g molecule, epsilon (CD3-TCR complex)|T-cell antigen receptor complex, gamma subunit of T3|T-cell receptor T3 gamma chain|T-cell surface glycoprotein CD3 gamma chain CD3G Bin Zhao, Yue Liu, Oliver He CD3-ZETA CD3H CD3Q CD3Z T3Z TCRZ WEB: http://www.ncbi.nlm.nih.gov/gene CD247 CD247 molecule 919 RP11-104L21.1 1q24.2 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0004888 (EC: IEA); GO_0005515 (EC: IPI, PMID: 10704231); GO_0005737 (EC: IDA, PMID: 11390434); GO_0005886 (EC: IDA, PMID: 11390434); GO_0005886 (EC: TAS); GO_0016021 (EC: IEA); GO_0016032 (EC: TAS); GO_0031295 (EC: TAS); GO_0038096 (EC: TAS); GO_0042101 (EC: IDA, PMID: 8176201); GO_0042105 (EC: IEA); GO_0042802 (EC: IPI, PMID: 17055436); GO_0042803 (EC: NAS, PMID: 12110186); GO_0045087 (EC: TAS); GO_0050690 (EC: TAS); GO_0050776 (EC: TAS); GO_0050852 (EC: TAS) PMID: 1385158; 1385321; 1390434; 1454062; 1530920; 1532817; 1717577; 2111780; 2138083; 2138330; 2145165; 2845582; 2974162; 3478717; 3785426; 7514106; 7517794; 7526385; 7528772; 7589084; 7629168; 7680960; 7737297; 7842742; 8125298; 8176201; 8366117; 8409430; 8417118; 8621646; 8626561; 8656061; 8675217; 8760790; 8809126; 8906806; 8977276; 9036949; 9045614; 9047237; 9172452; 9368621; 9448136; 9484780; 9485181; 9510190; 9575182; 9625766; 9677202; 9687533; 9743208; 9880255; 10224289; 10424441; 10449770; 10704231; 10722370; 10799879; 11048639; 11349123; 11353765; 11390434; 11463741; 11525746; 11572860; 11714771; 11827988; 11851345; 11891219; 11916964; 11920499; 11950832; 12100036; 12110186; 12165490; 12176041; 12202152; 12356870; 12420108; 12421992; 12477932; 12522270; 12587826; 12731048; 12734410; 12755691; 12847689; 12902492; 12928398; 14523017; 14526327; 14550268; 14672952; 14715568; 14757743; 14967045; 15084271; 15144186; 15186530; 15274412; 15323357; 15489334; 15489916; 15592455; 15641485; 15659558; 15743765; 15749888; 15879101; 15922712; 16049493; 16094384; 16337488; 16393980; 16454711; 16461343; 16616055; 16672702; 16710414; 17001685; 17054067; 17055436; 17134238; 17134755; 17176095; 17255353; 17464179; 17652306; 17951997; 17997796; 18051367; 18174230; 18178846; 18207249; 18215426; 18438604; 18463433; 18505733; 18714041; 18721908; 18787188; 19064610; 19082633; 19090773; 19201859; 19229850; 19259799; 19422667; 19536175; 19664385; 19710135; 19898481; 20032419; 20118245; 20179761; 20190752; 20237496; 20383147; 20453842; 20637659; 20723304; 21383967; 21474487; 21669053; 21669059; 21750679; 21779181; 21988832; 22004975; 22221142; 22292024; 22294642; 22345473; 22401598; 22505724; 22536368; 22551306; 22798681; 22844345; 22911005; 23057733; 23228155; 23525753; 23861880; 23916875 CD247 molecule Ensembl:ENSG00000198821 HGNC:1677 HPRD:01729 MIM:186780 Vega:OTTHUMG00000034593 Other designations: CD247 antigen, zeta subunit|CD3Z antigen, zeta polypeptide (TiT3 complex)|CD3zeta chain|T-cell antigen receptor complex, zeta subunit of CD3|T-cell receptor T3 zeta chain|T-cell surface glycoprotein CD3 zeta chain|TCR zeta chain CD247 Bin Zhao, Yue Liu, Oliver He CD4mut WEB: http://www.ncbi.nlm.nih.gov/gene CD4 CD4 molecule 920 12p13.31 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0001816 (EC: IEA); GO_0001948 (EC: IPI, PMID: 10922058); GO_0004872 (EC: TAS, PMID: 10413516); GO_0004888 (EC: TAS, PMID: 10358157); GO_0005201 (EC: NAS, PMID: 12444132); GO_0005515 (EC: IPI, PMID: 11113139); GO_0005769 (EC: TAS); GO_0005788 (EC: IEA); GO_0005789 (EC: TAS); GO_0005886 (EC: IDA, PMID: 11390434); GO_0005886 (EC: TAS); GO_0006948 (EC: IDA, PMID: 9166430); GO_0006955 (EC: NAS, PMID: 8512039); GO_0007155 (EC: IEA); GO_0007165 (EC: TAS, PMID: 10358157); GO_0007166 (EC: TAS, PMID: 9780207); GO_0007167 (EC: TAS, PMID: 10358157); GO_0007169 (EC: NAS, PMID: 8512039); GO_0008270 (EC: IDA, PMID: 9668045); GO_0009897 (EC: IDA, PMID: 17213291); GO_0015026 (EC: NAS, PMID: 8512039); GO_0016021 (EC: IEA); GO_0016032 (EC: TAS); GO_0019899 (EC: IPI, PMID: 19333378); GO_0019901 (EC: IPI, PMID: 7486703); GO_0030217 (EC: IDA, PMID: 1533274); GO_0030260 (EC: TAS); GO_0031295 (EC: TAS); GO_0032507 (EC: IDA, PMID: 15128768); GO_0042101 (EC: NAS, PMID: 8512039); GO_0042289 (EC: NAS, PMID: 8512039); GO_0042803 (EC: IDA, PMID: 12444132); GO_0045058 (EC: IDA, PMID: 9551897); GO_0045086 (EC: NAS, PMID: 1901411); GO_0045087 (EC: TAS); GO_0045121 (EC: IEA); GO_0045234 (EC: IDA, PMID: 15128768); GO_0045860 (EC: IDA, PMID: 2118992); GO_0050690 (EC: TAS); GO_0050731 (EC: IEA); GO_0050829 (EC: IEA); GO_0050850 (EC: IEA); GO_0050852 (EC: TAS); GO_0050863 (EC: IDA, PMID: 1533274) PMID: 153; 200; 237459; 1279195; 1280382; 1281202; 1310988; 1348943; 1352879; 1354681; 1354808; 1356673; 1370558; 1370739; 1373203; 1373549; 1374095; 1376134; 1376135; 1378510; 1380099; 1380260; 1381201; 1381203; 1381399; 1382339; 1388715; 1402655; 1425921; 1433512; 1438278; 1457205; 1457207; 1465431; 1472279; 1489581; 1491632; 1493050; 1500858; 1501286; 1501294; 1503822; 1512692; 1520872; 1527858; 1533274; 1535086; 1535787; 1537337; 1543562; 1546447; 1548744; 1548763; 1548769; 1549584; 1551875; 1563094; 1565858; 1567578; 1569213; 1588493; 1592430; 1599754; 1602552; 1605591; 1614536; 1618861; 1622897; 1627247; 1636088; 1639820; 1674549; 1677023; 1678778; 1685857; 1687500; 1690236; 1690832; 1691226; 1691563; 1693676; 1696539; 1697332; 1698804; 1698911; 1698964; 1701030; 1701782; 1702163; 1702842; 1703212; 1706342; 1708753; 1709701; 1710248; 1711033; 1711118; 1713252; 1713692; 1717587; 1717717; 1720590; 1720627; 1720631; 1721822; 1722676; 1724568; 1727475; 1727486; 1727487; 1727497; 1730924; 1732513; 1736938; 1738091; 1742075; 1757107; 1763044; 1810199; 1832782; 1834739; 1845049; 1851800; 1870202; 1870209; 1871120; 1888898; 1889086; 1896455; 1899141; 1901411; 1910691; 1918997; 1931229; 1931230; 1959561; 1967269; 1967280; 1970124; 1970444; 1971526; 1977427; 1978941; 1979339; 1979910; 1983967; 1984054; 1985197; 1985202; 1991970; 1995942; 2006155; 2007979; 2014052; 2015114; 2018763; 2040625; 2040664; 2045792; 2059359; 2062847; 2068099; 2076345; 2078013; 2078408; 2078409; 2082620; 2103853; 2104682; 2107024; 2109100; 2111957; 2115689; 2118992; 2125484; 2136376; 2171457; 2182910; 2187500; 2190096; 2190604; 2190605; 2198840; 2212945; 2214026; 2243375; 2247146; 2251501; 2261984; 2324685; 2325207; 2335819; 2339113; 2341717; 2363051; 2364018; 2374593; 2402498; 2431105; 2431482; 2432599; 2436231; 2437327; 2438696; 2441727; 2441877; 2446880; 2453925; 2461565; 2462895; 2468713; 2475780; 2479005; 2482055; 2523711; 2536098; 2537355; 2538505; 2538547; 2541915; 2543930; 2545918; 2549633; 2549987; 2550671; 2550679; 2555159; 2558637; 2558687; 2559777; 2571187; 2592374; 2821115; 2829022; 2829023; 2830667; 2833917; 2842778; 2845147; 2846691; 2851650; 2986290; 2986291; 2990682; 2990730; 2995487; 3001934; 3006256; 3016552; 3018753; 3023102; 3027168; 3029227; 3038935; 3086883; 3095663; 3118220; 3257102; 3259291; 3260352; 3261864; 3263213; 3304356; 3466790; 3484980; 3495568; 3497054; 3652531; 3682024; 6096719; 7486703; 7494500; 7504739; 7506554; 7515973; 7521897; 7522245; 7529290; 7529735; 7533854; 7537501; 7539035; 7539755; 7541827; 7543586; 7544051; 7545243; 7545244; 7546903; 7562439; 7576913; 7576930; 7589091; 7589092; 7592573; 7594524; 7615007; 7616571; 7618285; 7636191; 7650480; 7676667; 7678271; 7685405; 7686944; 7687306; 7688299; 7688827; 7689324; 7690418; 7690724; 7692037; 7692087; 7693970; 7707502; 7734186; 7737288; 7754236; 7769669; 7769687; 7774645; 7778293; 7821926; 7831289; 7831801; 7832633; 7853478; 7853484; 7867080; 7871751; 7874384; 7897355; 7897356; 7902127; 7903106; 7903128; 7903479; 7904348; 7904351; 7904656; 7906314; 7906657; 7910967; 7913036; 7914230; 7917519; 7935503; 7961587; 7975260; 7982906; 7983750; 8035515; 8043225; 8057354; 8075984; 8091666; 8091684; 8102473; 8104794; 8105835; 8122371; 8124721; 8125527; 8129620; 8139010; 8139011; 8151300; 8151301; 8151774; 8160267; 8168144; 8178478; 8196669; 8212576; 8230446; 8246987; 8262036; 8280475; 8289353; 8331723; 8331733; 8350411; 8356059; 8361381; 8363802; 8369162; 8409933; 8411350; 8416385; 8417177; 8419649; 8419650; 8437224; 8437228; 8437234; 8438588; 8455141; 8460995; 8464887; 8474162; 8497074; 8497077; 8510207; 8510209; 8512039; 8516299; 8547064; 8551569; 8551601; 8551619; 8552983; 8560759; 8560767; 8568275; 8575195; 8599214; 8599229; 8599760; 8599832; 8605026; 8613144; 8615015; 8615021; 8615032; 8627160; 8627264; 8627711; 8629022; 8635586; 8648738; 8649438; 8659106; 8661396; 8661397; 8663408; 8674119; 8674120; 8707350; 8709227; 8723724; 8726523; 8738430; 8760413; 8801439; 8805353; 8806567; 8806575; 8811198; 8827217; 8827218; 8849450; 8862276; 8871625; 8882662; 8887470; 8887682; 8891109; 8892926; 8896248; 8898753; 8906795; 8906796; 8906988; 8924209; 8948487; 8973529; 8976200; 8977179; 8986758; 8995609; 9000083; 9002959; 9036944; 9037057; 9043947; 9049297; 9049413; 9052838; 9074930; 9123823; 9151836; 9166430; 9168119; 9168885; 9185604; 9186786; 9226175; 9261346; 9263011; 9264287; 9269777; 9334377; 9344703; 9349472; 9360974; 9377118; 9417096; 9420225; 9443108; 9445013; 9451022; 9473011; 9499087; 9499113; 9499115; 9525683; 9525894; 9546790; 9548463; 9551897; 9558100; 9573233; 9576954; 9600078; 9600268; 9601645; 9604776; 9614108; 9621091; 9622505; 9632396; 9632631; 9637477; 9641677; 9653051; 9658072; 9658081; 9660940; 9668045; 9696823; 9721247; 9724097; 9739096; 9770524; 9780207; 9811606; 9811611; 9826718; 9862697; 9870313; 9918507; 9923610; 9989602; 10074122; 10089882; 10199403; 10202115; 10208934; 10213312; 10213313; 10233996; 10329539; 10358157; 10364484; 10371171; 10375525; 10375528; 10393974; 10413516; 10430052; 10438529; 10446313; 10451539; 10482576; 10490978; 10505674; 10508188; 10557278; 10558884; 10559275; 10559349; 10562325; 10581250; 10582593; 10589997; 10590121; 10593874; 10600606; 10606089; 10623731; 10623764; 10644351; 10684310; 10738970; 10758170; 10774549; 10776787; 10779509; 10816381; 10820003; 10873786; 10875613; 10888615; 10922058; 10941932; 11024150; 11024154; 11024464; 11048639; 11069996; 11070895; 11086073; 11106664; 11113139; 11118070; 11140838; 11188697; 11201791; 11238869; 11264367; 11264384; 11264386; 11265761; 11287575; 11290759; 11311058; 11312658; 11327825; 11333905; 11333908; 11352665; 11356961; 11356967; 11390434; 11396948; 11397808; 11413305; 11413335; 11413337; 11413340; 11414813; 11438519; 11453640; 11463741; 11489906; 11504923; 11533181; 11535811; 11578695; 11581379; 11581410; 11602639; 11602785; 11704677; 11711593; 11734627; 11752220; 11756173; 11799176; 11804554; 11827520; 11827988; 11854499; 11861835; 11861874; 11876757; 11877445; 11878912; 11884536; 11893391; 11906183; 11920312; 11922627; 11931835; 11932428; 11959143; 11967288; 11994538; 12007789; 12008044; 12033937; 12055221; 12072528; 12083833; 12091904; 12120995; 12134256; 12145207; 12163558; 12191776; 12208966; 12213222; 12218051; 12218052; 12218108; 12368305; 12368322; 12392548; 12402167; 12406507; 12429712; 12429730; 12438611; 12441808; 12444132; 12462973; 12477840; 12477867; 12477932; 12487827; 12502809; 12502824; 12517957; 12525600; 12525647; 12531788; 12531905; 12584309; 12586555; 12597360; 12608057; 12610158; 12614324; 12629155; 12634405; 12639247; 12646791; 12646921; 12692222; 12695117; 12702212; 12707350; 12713058; 12719560; 12719580; 12734410; 12746459; 12767984; 12768015; 12769725; 12787886; 12816953; 12832058; 12832421; 12836198; 12842621; 12845769; 12857973; 12864967; 12871111; 12873765; 12885233; 12887918; 12893943; 12899833; 12930892; 12943795; 12953261; 12954211; 12960231; 12963807; 12970437; 13679604; 14500983; 14505910; 14505925; 14512572; 14517611; 14557624; 14557639; 14561767; 14570906; 14576059; 14585209; 14585219; 14592765; 14592831; 14624372; 14640682; 14646564; 14659896; 14670336; 14697933; 14705953; 14722266; 14739941; 14747534; 14757743; 14965316; 14967033; 14990703; 15014135; 15016849; 15016894; 15018709; 15033567; 15033690; 15047060; 15051887; 15063762; 15078178; 15090827; 15099523; 15109676; 15113900; 15113923; 15113926; 15128768; 15161081; 15166428; 15166429; 15168796; 15180540; 15180541; 15183057; 15194762; 15194768; 15202998; 15215692; 15258189; 15279588; 15279589; 15308718; 15308751; 15317218; 15321703; 15326605; 15340161; 15371410; 15489307; 15489334; 15489916; 15494497; 15542675; 15572157; 15577644; 15585836; 15611114; 15613479; 15616015; 15638726; 15650196; 15660419; 15665647; 15665762; 15714205; 15719026; 15722538; 15729334; 15731180; 15737612; 15748209; 15748900; 15767435; 15767436; 15778371; 15784911; 15797855; 15807900; 15821887; 15823605; 15854903; 15857992; 15857997; 15890908; 15890935; 15893666; 15929700; 15936090; 15956589; 15956605; 15964018; 15972448; 15975620; 15977243; 15983047; 15990565; 15996703; 16002156; 16046522; 16047221; 16091223; 16103167; 16106369; 16116206; 16148047; 16174727; 16185162; 16188969; 16227248; 16282475; 16284180; 16300985; 16309726; 16310238; 16314494; 16315040; 16331979; 16344560; 16354571; 16365153; 16426633; 16439540; 16454711; 16476977; 16497223; 16507315; 16515489; 16611063; 16616288; 16631599; 16684552; 16702010; 16721558; 16736946; 16753228; 16758122; 16762062; 16775320; 16777164; 16796521; 16817962; 16821115; 16829607; 16855325; 16873261; 16886053; 16886061; 16888650; 16951326; 16955142; 16963439; 16979207; 16987062; 17001685; 17005819; 17010381; 17020785; 17030448; 17035237; 17042973; 17053352; 17065205; 17077296; 17082567; 17083721; 17084877; 17121788; 17121803; 17132727; 17144914; 17151103; 17157668; 17158233; 17170457; 17175221; 17180012; 17187670; 17213291; 17234232; 17235436; 17237241; 17239419; 17251298; 17251303; 17252589; 17267500; 17269928; 17292399; 17304105; 17320923; 17328229; 17329339; 17334223; 17344303; 17346169; 17346946; 17360741; 17363727; 17413690; 17462597; 17485285; 17507486; 17522341; 17526486; 17543960; 17586316; 17586321; 17591854; 17599917; 17628860; 17632197; 17632570; 17645467; 17652306; 17652391; 17653867; 17676933; 17686993; 17712998; 17721546; 17726154; 17728240; 17824250; 17825297; 17855336; 17885647; 17888880; 17904606; 17937819; 17947540; 17956985; 17959679; 17975141; 17980430; 18032634; 18035040; 18045872; 18061610; 18078954; 18089681; 18097956; 18156204; 18162176; 18167642; 18187620; 18197116; 18204854; 18205604; 18205925; 18237398; 18242797; 18261176; 18296630; 18310503; 18353949; 18376303; 18377648; 18390744; 18418773; 18432409; 18438604; 18451325; 18468560; 18473783; 18480458; 18500445; 18508887; 18523251; 18524826; 18541215; 18566427; 18579178; 18579609; 18590744; 18619974; 18624812; 18632854; 18668044; 18672082; 18672260; 18676680; 18691022; 18704932; 18713475; 18715908; 18725938; 18786994; 18789977; 18808677; 18833294; 18837996; 18924611; 18976462; 18976975; 18977142; 18987145; 18991615; 19000821; 19004052; 19018669; 19019953; 19020832; 19064722; 19066282; 19103208; 19129443; 19144136; 19146681; 19149577; 19170196; 19170639; 19180463; 19192224; 19196101; 19275586; 19289577; 19301975; 19324886; 19327048; 19333378; 19366992; 19403684; 19439470; 19449444; 19478876; 19492063; 19493998; 19505389; 19535453; 19553323; 19553524; 19556424; 19572057; 19573080; 19596013; 19625176; 19643141; 19664391; 19667946; 19667950; 19671162; 19692168; 19692474; 19692476; 19692480; 19715524; 19734912; 19751272; 19770068; 19773279; 19777054; 19781555; 19798410; 19812686; 19813706; 19843086; 19851458; 19895210; 19917496; 19926478; 19933330; 19944437; 19965434; 20007245; 20012522; 20012528; 20041213; 20051874; 20078884; 20080564; 20088758; 20132229; 20139419; 20162270; 20166763; 20179761; 20186035; 20195464; 20197275; 20201792; 20213609; 20224778; 20227370; 20237496; 20357769; 20380698; 20388015; 20403730; 20420669; 20442859; 20447038; 20448211; 20458450; 20463063; 20463068; 20463957; 20465832; 20494390; 20501362; 20504833; 20507591; 20530479; 20539016; 20558728; 20562332; 20568250; 20570309; 20594957; 20610714; 20622010; 20631314; 20638642; 20659345; 20724730; 20729906; 20730055; 20739067; 20819778; 20826747; 20835359; 20847001; 20858517; 20860805; 20874088; 20880565; 20881088; 20924289; 20930173; 20943653; 20961591; 20974815; 20974843; 20980513; 21041720; 21048031; 21057376; 21060818; 21068258; 21110955; 21134642; 21142701; 21146497; 21152581; 21165790; 21176220; 21177324; 21179414; 21179576; 21193846; 21209878; 21216423; 21249232; 21249500; 21255440; 21257970; 21284901; 21289125; 21310048; 21324454; 21325401; 21346189; 21351734; 21357438; 21357743; 21376048; 21382342; 21411542; 21430066; 21444771; 21465559; 21482738; 21487012; 21491089; 21543478; 21557772; 21593147; 21600899; 21601230; 21607084; 21612582; 21613393; 21625496; 21626027; 21637819; 21651772; 21660189; 21674066; 21697467; 21709158; 21709254; 21715496; 21738584; 21744325; 21750724; 21757642; 21760891; 21763239; 21769486; 21792088; 21800875; 21827143; 21845735; 21849975; 21851958; 21861776; 21875413; 21880749; 21886150; 21900604; 21902583; 21909273; 21917951; 21922073; 21931551; 21949691; 21957314; 21988832; 21994452; 21994772; 22006924; 22013062; 22017399; 22032685; 22069466; 22083481; 22090097; 22103831; 22103832; 22103833; 22103834; 22103836; 22103838; 22117536; 22158072; 22163292; 22163344; 22171785; 22175768; 22209232; 22222210; 22283893; 22284360; 22291690; 22291921; 22301137; 22301152; 22310634; 22329717; 22337266; 22345473; 22357275; 22378925; 22384114; 22404213; 22419808; 22433250; 22437554; 22446965; 22451932; 22466163; 22479399; 22479639; 22482414; 22497421; 22505724; 22524483; 22545156; 22547820; 22551420; 22553332; 22606344; 22624045; 22640559; 22640659; 22672991; 22674993; 22687513; 22696649; 22751485; 22773820; 22797698; 22808111; 22826297; 22844345; 22846998; 22863293; 22908191; 22933284; 22959895; 22980333; 23077246; 23098499; 23151229; 23158993; 23185351; 23225889; 23282736; 23340699; 23364796; 23426363; 23470050; 23691059; 23692566; 23700441; 23729440; 23807677; 23863698; 23923047; 24006463; 24257748 CD4 molecule Ensembl:ENSG00000010610 HGNC:1678 HPRD:01740 MIM:186940 Vega:OTTHUMG00000168514 Other designations: CD4 antigen (p55)|CD4 receptor|T-cell surface antigen T4/Leu-3|T-cell surface glycoprotein CD4 CD4 Bin Zhao, Yue Liu, Oliver He CD8 Leu2 MAL p32 WEB: http://www.ncbi.nlm.nih.gov/gene CD8A CD8a molecule 925 2p12 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0002456 (EC: IEA); GO_0005515 (EC: IPI, PMID: 2470098); GO_0005576 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: NAS, PMID: 2496167); GO_0006955 (EC: NAS, PMID: 11131152); GO_0007169 (EC: NAS, PMID: 9830036); GO_0009897 (EC: IDA, PMID: 17213291); GO_0015026 (EC: NAS, PMID: 11131152); GO_0019882 (EC: NAS, PMID: 2496167); GO_0019901 (EC: IEA); GO_0042101 (EC: NAS, PMID: 11131152); GO_0042110 (EC: NAS, PMID: 9830036); GO_0042288 (EC: NAS, PMID: 11131152); GO_0042803 (EC: IEA); GO_0045065 (EC: IEA); GO_0050776 (EC: TAS); GO_0050850 (EC: IEA); GO_0051607 (EC: IEA) PMID: 1377690; 1541829; 1547508; 1676132; 1831127; 1834739; 1908512; 2470098; 2493728; 2496167; 2509342; 2536941; 2701945; 2877435; 3145195; 3871356; 3918796; 3936473; 6440142; 6605969; 8127870; 9177355; 9331948; 9366416; 9550407; 9790534; 9804427; 9830036; 10022843; 10444591; 10490978; 10562325; 10623829; 10809759; 10843658; 11102443; 11131152; 11140838; 11251883; 11435463; 11729321; 11914379; 11937547; 12124384; 12215456; 12477932; 12594841; 12899833; 14500983; 14559993; 14702039; 15078895; 15927673; 15975922; 16344560; 16354571; 16454711; 16818755; 16821115; 17213291; 17658607; 17678538; 17950725; 18089323; 18156204; 18398508; 18418773; 18483277; 18625635; 18650384; 18695005; 18833003; 18956469; 19149577; 19751272; 19752186; 19768696; 20053942; 20237496; 20644117; 20682852; 20704820; 20850477; 21142701; 21257970; 21430066; 21518761; 21543478; 21645925; 21813446; 21818290; 21936714; 21948982; 21954283; 21988832; 22001684; 22013062; 22045731; 22103833; 22143984; 22175768; 22185976; 22345473; 22551306; 22811543; 22844345; 23185362; 23225889; 23363813; 23400868; 23640800; 23878500; 24047902; 24297179 CD8a molecule Ensembl:ENSG00000153563 HGNC:1706 HPRD:01737 MIM:186910 Vega:OTTHUMG00000130265 Other designations: CD8 antigen, alpha polypeptide (p32)|Leu2 T-lymphocyte antigen|OKT8 T-cell antigen|T cell co-receptor|T-cell antigen Leu2|T-cell surface glycoprotein CD8 alpha chain|T-lymphocyte differentiation antigen T8/Leu-2|T8 T-cell antigen CD8A Bin Zhao, Yue Liu, Oliver He CD8B1 LEU2 LY3 LYT3 P37 WEB: http://www.ncbi.nlm.nih.gov/gene CD8B CD8b molecule 926 2p12 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 2493728); GO_0005576 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 3145195); GO_0006955 (EC: NAS, PMID: 11131152); GO_0007169 (EC: NAS, PMID: 9830036); GO_0009897 (EC: IEA); GO_0015026 (EC: NAS, PMID: 11131152); GO_0016032 (EC: TAS); GO_0031901 (EC: TAS); GO_0042101 (EC: NAS, PMID: 11131152); GO_0042110 (EC: NAS, PMID: 9830036); GO_0042288 (EC: NAS, PMID: 11131152); GO_0050690 (EC: TAS); GO_0050776 (EC: TAS) PMID: 1541829; 2111591; 2493728; 2536941; 3114136; 3145195; 3145196; 3264320; 3860845; 8436166; 9550407; 9830036; 10623829; 10809759; 11131152; 11937547; 12215456; 12459555; 12477932; 12702212; 15980863; 16103193; 16344560; 18473783; 18490743; 19149577; 19322201; 19768696; 20379614; 21543478; 21685912; 21922073; 21936714; 21954283; 22013062; 22844345; 24047902; 24297179 CD8b molecule Ensembl:ENSG00000172116 HGNC:1707 HPRD:01725 MIM:186730 Vega:OTTHUMG00000130264 Other designations: CD8 antigen, beta polypeptide 1 (p37)|T lymphocyte surface glycoprotein beta chain|T-cell surface glycoprotein CD8 beta chain CD8B Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene CD14 CD14 molecule 929 5q31.1 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0001530 (EC: IDA, PMID: 12594207); GO_0001847 (EC: TAS, PMID: 2402637); GO_0002224 (EC: TAS); GO_0002755 (EC: TAS); GO_0002756 (EC: TAS); GO_0005515 (EC: IPI); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0005886 (EC: TAS); GO_0006909 (EC: TAS, PMID: 9548256); GO_0006915 (EC: TAS, PMID: 9548256); GO_0006954 (EC: IEA); GO_0007166 (EC: TAS, PMID: 8798531); GO_0007249 (EC: TAS); GO_0009408 (EC: IEA); GO_0009986 (EC: IEA); GO_0010008 (EC: TAS); GO_0016019 (EC: TAS, PMID: 8798531); GO_0031225 (EC: IEA); GO_0032026 (EC: IEA); GO_0032760 (EC: IDA, PMID: 12594207); GO_0034134 (EC: TAS); GO_0034138 (EC: TAS); GO_0034142 (EC: TAS); GO_0034612 (EC: IEA); GO_0035666 (EC: TAS); GO_0038123 (EC: TAS); GO_0038124 (EC: TAS); GO_0045087 (EC: TAS); GO_0045121 (EC: IEA); GO_0045471 (EC: IEA); GO_0045807 (EC: IEA); GO_0050715 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867); GO_0070891 (EC: IDA, PMID: 12594207); GO_0071222 (EC: IDA, PMID: 12594207); GO_0071223 (EC: IDA, PMID: 12594207) PMID: 2402637; 2448876; 2453848; 2462937; 2472171; 2779588; 3385210; 7583357; 8798531; 9142045; 9548256; 9562334; 9655682; 9665271; 10395652; 10575214; 11062291; 11076863; 11083760; 11145656; 11199329; 11257272; 11282774; 11343243; 11489942; 11732288; 11745332; 11779220; 11810121; 11825494; 11841490; 11843056; 11854210; 11876746; 11932927; 11935032; 11985523; 12006789; 12011764; 12067299; 12075251; 12082592; 12101079; 12103253; 12106839; 12117913; 12126249; 12140663; 12171914; 12174084; 12185442; 12196527; 12207338; 12324469; 12404174; 12410798; 12414752; 12417309; 12438323; 12450609; 12477932; 12492251; 12566518; 12580907; 12594207; 12624278; 12663765; 12679473; 12700637; 12731067; 12754215; 12756848; 12757265; 12825176; 12832426; 12853157; 12885845; 12897754; 12911501; 12938192; 12940436; 12942028; 12960274; 14500479; 14508193; 14510720; 14517492; 14517520; 14587643; 14617510; 14624155; 14648231; 14672339; 14673018; 14706103; 14720421; 14739370; 14996480; 15034063; 15039096; 15069085; 15080833; 15081257; 15116260; 15120158; 15132789; 15143473; 15164100; 15166925; 15175649; 15190267; 15207785; 15257175; 15269840; 15273551; 15292769; 15342556; 15356557; 15358661; 15369724; 15373760; 15378299; 15489334; 15489336; 15491315; 15516360; 15520404; 15558232; 15591473; 15599151; 15602630; 15619435; 15640605; 15647432; 15655821; 15670766; 15686783; 15714129; 15741437; 15753758; 15764151; 15777548; 15778383; 15842262; 15854776; 15867866; 15879416; 15932345; 15940135; 15946916; 15966209; 15975149; 16038043; 16046876; 16051275; 16061600; 16085746; 16101942; 16109674; 16137548; 16142747; 16148556; 16159630; 16165702; 16174094; 16174099; 16194368; 16239565; 16246938; 16266379; 16273620; 16273622; 16275943; 16283111; 16290232; 16292464; 16331574; 16335952; 16337421; 16344560; 16368002; 16381901; 16385250; 16386288; 16387800; 16409569; 16427140; 16433727; 16437636; 16443672; 16444757; 16446545; 16467036; 16473828; 16492974; 16509825; 16512634; 16520888; 16538169; 16552356; 16611358; 16614348; 16625214; 16698680; 16706818; 16749413; 16751411; 16785528; 16815140; 16836908; 16848791; 16860318; 16873708; 16879054; 16890863; 16893989; 16916546; 16933467; 16950285; 16950521; 17003960; 17007028; 17030237; 17046070; 17052752; 17056323; 17062130; 17067484; 17075287; 17086894; 17087609; 17098305; 17126402; 17187267; 17196641; 17201240; 17205552; 17207357; 17217435; 17259806; 17264400; 17274987; 17304102; 17309585; 17436151; 17438094; 17448042; 17456337; 17471431; 17511783; 17515856; 17565650; 17600225; 17607003; 17617027; 17653770; 17703412; 17802898; 17846597; 17869646; 17877764; 17877801; 17900622; 17913858; 17916440; 17919709; 17925604; 17934216; 17943182; 17949800; 17982638; 18008256; 18040078; 18056918; 18057002; 18067042; 18157711; 18158110; 18174680; 18180316; 18180796; 18182917; 18288274; 18312481; 18315435; 18320914; 18354240; 18385826; 18414664; 18415752; 18417506; 18425216; 18426570; 18458151; 18495781; 18496988; 18497880; 18519568; 18565258; 18571004; 18580445; 18580477; 18596635; 18606699; 18634146; 18664531; 18666712; 18676680; 18691306; 18714537; 18728522; 18767926; 18774388; 18794053; 18810425; 18818748; 18931892; 18938271; 18951711; 18974840; 18974842; 18987746; 18991094; 19006850; 19010986; 19019335; 19027777; 19028820; 19037967; 19046305; 19056867; 19060757; 19096003; 19131662; 19148143; 19170196; 19189651; 19200604; 19210273; 19222419; 19225544; 19242719; 19247692; 19254290; 19258923; 19263529; 19264973; 19275920; 19318422; 19337058; 19346955; 19360901; 19361972; 19365146; 19390489; 19420105; 19423540; 19433913; 19447482; 19466271; 19468702; 19479237; 19500269; 19508433; 19522765; 19527514; 19536153; 19550115; 19559392; 19572148; 19578796; 19584052; 19595045; 19605672; 19625176; 19674346; 19692168; 19701968; 19729601; 19733948; 19741468; 19758335; 19761511; 19795323; 19799036; 19809507; 19824106; 19829130; 19830784; 19845895; 19847953; 19860589; 19892918; 19913121; 19928913; 19948975; 19997857; 20039305; 20085599; 20092898; 20109306; 20109750; 20113368; 20163933; 20179016; 20207250; 20219985; 20227257; 20302606; 20346360; 20363151; 20364047; 20377740; 20381257; 20384875; 20394509; 20395963; 20398919; 20406964; 20430603; 20430725; 20438785; 20452482; 20463618; 20472010; 20472613; 20485444; 20503287; 20532808; 20536280; 20536507; 20555320; 20579716; 20587312; 20603037; 20608916; 20618347; 20628086; 20636398; 20660791; 20673868; 20677014; 20703737; 20717070; 20723409; 20730440; 20826579; 20832340; 20865702; 20964518; 21039068; 21041645; 21048031; 21052690; 21062235; 21063024; 21079949; 21084593; 21118416; 21172039; 21178007; 21191073; 21209279; 21253969; 21257965; 21277522; 21278688; 21293259; 21303362; 21333644; 21361908; 21389010; 21476947; 21489615; 21498585; 21596674; 21633598; 21700881; 21705839; 21722015; 21740312; 21745379; 21799175; 21808991; 21842127; 21885391; 21905503; 21921097; 21948372; 21988832; 22014346; 22015088; 22056216; 22219617; 22232682; 22260507; 22265692; 22363790; 22376040; 22384567; 22445606; 22482418; 22564189; 22648004; 22697010; 22703766; 22737215; 22808111; 22812245; 22937756; 22961048; 22999728; 23000519; 23009036; 23036097; 23036271; 23046822; 23049772; 23079836; 23101184; 23107636; 23121673; 23146639; 23162014; 23162132; 23194293; 23201091; 23206327; 23264655; 23277403; 23338226; 23371544; 23430250; 23510625; 23537804; 23565226; 23582034; 23589304; 23679818; 23741383; 23762319; 23786414; 23824692; 23880187; 23936239; 24044964; 24077340; 24116867; 24172224 CD14 molecule Other designations: monocyte differentiation antigen CD14|myeloid cell-specific leucine-rich glycoprotein CD14 Bin Zhao, Yue Liu, Oliver He B1 Bp35 CD20 CVID5 LEU-16 MS4A2 S7 WEB: http://www.ncbi.nlm.nih.gov/gene MS4A1 membrane-spanning 4-domains, subfamily A, member 1 931 11q12 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0005154 (EC: IEA); GO_0005615 (EC: IDA); GO_0005887 (EC: NAS, PMID: 2448768); GO_0006959 (EC: NAS, PMID: 2448768); GO_0009897 (EC: IEA); GO_0023026 (EC: IDA); GO_0042100 (EC: NAS, PMID: 2448768); GO_0070062 (EC: IDA) PMID: 1535625; 2448768; 2456210; 2466898; 2466899; 3117132; 3260267; 3871452; 7545683; 7678037; 7684739; 7920628; 8125298; 8325649; 8701937; 8816400; 9169438; 9814732; 9933087; 10808179; 11169444; 12075439; 12144126; 12218101; 12393541; 12447967; 12477932; 12603599; 12704213; 12835728; 12920111; 14976189; 15480506; 15489334; 15638430; 15927668; 16095505; 16285718; 16923555; 16923582; 17000895; 17268523; 17299094; 17336267; 17362749; 17712791; 18006839; 18029348; 18095154; 18324964; 18346788; 18426802; 18652276; 19000453; 19054557; 19111631; 19136769; 19153665; 19207312; 19211644; 19246561; 19276251; 19513512; 19513562; 19641607; 20038800; 20191119; 20237496; 20350657; 20354182; 20458337; 20641064; 20660329; 20674973; 20815894; 21048031; 21092589; 21258801; 21348573; 21444918; 21630262; 21839272; 21961844; 22130422; 22171710; 22315496; 22490442; 22514692; 22517865; 22664043; 22665052; 22685558; 22692757; 22758374; 22843692; 22914441; 23031227; 23182705; 23659384; 24145652 membrane-spanning 4-domains, subfamily A, member 1 Ensembl:ENSG00000156738 HGNC:7315 HPRD:00204 MIM:112210 Vega:OTTHUMG00000167614 Other designations: B-lymphocyte antigen CD20|B-lymphocyte cell-surface antigen B1|CD20 antigen|CD20 receptor|leukocyte surface antigen Leu-16 MS4A1 Bin Zhao, Yue Liu, Oliver He B7 B7-1 B7.1 BB1 CD28LG CD28LG1 LAB7 WEB: http://www.ncbi.nlm.nih.gov/gene CD80 CD80 molecule 941 3q13.3-q21 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 11279502); GO_0005886 (EC: TAS); GO_0007173 (EC: TAS); GO_0007267 (EC: IC, PMID: 9915850); GO_0008543 (EC: TAS); GO_0009897 (EC: IEA); GO_0009967 (EC: NAS, PMID: 9915850); GO_0015026 (EC: NAS, PMID: 9915850); GO_0016021 (EC: IC, PMID: 9915850); GO_0016032 (EC: IEA); GO_0031295 (EC: TAS); GO_0035556 (EC: NAS, PMID: 9915850); GO_0038095 (EC: TAS); GO_0042110 (EC: IC, PMID: 9915850); GO_0045086 (EC: NAS, PMID: 9915850); GO_0045087 (EC: TAS); GO_0045425 (EC: NAS, PMID: 9915850); GO_0045627 (EC: NAS, PMID: 9915850); GO_0045893 (EC: NAS, PMID: 9915850); GO_0046641 (EC: IEA); GO_0048011 (EC: TAS); GO_0048015 (EC: TAS); GO_0050731 (EC: IDA, PMID: 9915850) PMID: 1370389; 1377173; 1714935; 2794510; 7499425; 7527824; 7541827; 7545666; 7589092; 8086129; 8361751; 8814244; 9032261; 9250865; 9282998; 9286703; 9915850; 10661405; 10807504; 11045378; 11123305; 11137584; 11168518; 11168574; 11169444; 11196673; 11222911; 11279502; 11726649; 11741888; 11751963; 11826754; 11830501; 11936473; 12015893; 12067755; 12097397; 12100477; 12149421; 12352894; 12355442; 12372936; 12444120; 12477932; 12513711; 12569387; 12606712; 12660731; 12798307; 12800259; 12829914; 12829919; 12860928; 12878356; 12905492; 14530356; 14692664; 14871408; 14975605; 14978077; 15034022; 15063762; 15110532; 15163715; 15201958; 15254713; 15254772; 15272203; 15342556; 15377288; 15489334; 15598660; 15610849; 15611322; 15628695; 15942292; 15956545; 16002699; 16177101; 16237059; 16237760; 16272310; 16454711; 16521215; 16621031; 16690948; 16818765; 17077296; 17201120; 17309825; 17323353; 17524139; 17605869; 17703412; 17925605; 17953528; 17977894; 17989345; 18005680; 18026115; 18546634; 18577795; 18585785; 18676680; 18802089; 18928583; 18929847; 18945465; 19012493; 19056875; 19149577; 19170196; 19240061; 19258923; 19275586; 19433065; 19458171; 19550123; 19625176; 19692168; 19811307; 19817957; 19828628; 20034904; 20066438; 20118277; 20140740; 20145927; 20190752; 20237496; 20331378; 20503287; 20601595; 20716621; 20802378; 20884055; 20979791; 21048031; 21288140; 21399635; 21414970; 21469977; 21474713; 21555531; 21697455; 21778700; 21982860; 22074996; 22103833; 22142817; 22561518; 22704122; 22917707; 23000144; 23246582; 23273568; 23289444; 23470321; 23671644; 23689904; 23773232; 23918985; 24080446 CD80 molecule Ensembl:ENSG00000121594 HGNC:1700 HPRD:00202 MIM:112203 Vega:OTTHUMG00000159419 Other designations: B-lymphocyte activation antigen B7|CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)|CTLA-4 counter-receptor B7.1|T-lymphocyte activation antigen CD80|activation B7-1 antigen|costimulatory factor CD80|costimulatory molecule variant IgV-CD80 CD80 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene CD34 CD34 molecule 947 RP11-328D5.2 1q32 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001894 (EC: IDA, PMID: 12939361); GO_0001935 (EC: IDA); GO_0003094 (EC: IEP); GO_0003158 (EC: IEP, PMID: 17261663); GO_0005737 (EC: IDA, PMID: 7525669); GO_0005764 (EC: ISS); GO_0005886 (EC: IDA, PMID: 17464107); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 9042286); GO_0006536 (EC: IDA, PMID: 17505307); GO_0007165 (EC: IEP, PMID: 17261663); GO_0008134 (EC: IPI); GO_0008217 (EC: IDA, PMID: 17505307); GO_0008283 (EC: ISS); GO_0009897 (EC: IC, PMID: 15249540); GO_0009897 (EC: IDA, PMID: 10337918); GO_0009925 (EC: ISS); GO_0010628 (EC: IEP, PMID: 17261663); GO_0010629 (EC: IMP, PMID: 15969628); GO_0016324 (EC: ISS); GO_0016337 (EC: IDA, PMID: 15249540); GO_0030097 (EC: IMP, PMID: 15969628); GO_0030195 (EC: IDA, PMID: 17505307); GO_0030246 (EC: IDA, PMID: 15249540); GO_0032720 (EC: IDA, PMID: 17505307); GO_0032733 (EC: IDA, PMID: 17505307); GO_0035759 (EC: ISS); GO_0036053 (EC: ISS); GO_0038001 (EC: IDA); GO_0042482 (EC: IDA, PMID: 12939361); GO_0043199 (EC: IEA); GO_0045019 (EC: IDA, PMID: 17505307); GO_0045171 (EC: IDA, PMID: 7525669); GO_0045766 (EC: IDA, PMID: 12939361); GO_0048471 (EC: IDA, PMID: 7525669); GO_0048870 (EC: IEP, PMID: 17261663); GO_0050776 (EC: TAS); GO_0050900 (EC: ISS); GO_0060290 (EC: IEP, PMID: 1868864); GO_0061042 (EC: IEP); GO_0071425 (EC: IMP); GO_0071636 (EC: IDA, PMID: 17505307); GO_0071657 (EC: IDA, PMID: 9815891); GO_0071657 (EC: IEP, PMID: 17261663); GO_0071971 (EC: IDA); GO_0072011 (EC: IEP, PMID: 17464107); GO_0072089 (EC: IEP, PMID: 17261663); GO_0072254 (EC: IEP, PMID: 1868864); GO_1900035 (EC: IDA, PMID: 17505307); GO_1900038 (EC: IDA, PMID: 17505307); GO_1900041 (EC: IMP, PMID: 9815891); GO_1900168 (EC: IDA, PMID: 17505307); GO_1901215 (EC: IDA, PMID: 17505307); GO_2001214 (EC: IDA, PMID: 12939361) PMID: 1370171; 1374051; 1693532; 1694174; 1868864; 2462139; 7525669; 7678811; 8541536; 8547678; 8889549; 9042286; 9108388; 9780190; 9815891; 10233696; 10330415; 10337918; 10373550; 10648383; 11389015; 11757722; 11782553; 11798512; 11983914; 12091359; 12161354; 12215337; 12393582; 12393633; 12393741; 12477932; 12588680; 12827650; 12865405; 12883699; 12939361; 14702039; 14718574; 14744088; 15063762; 15242879; 15246162; 15249540; 15254762; 15277701; 15489334; 15536192; 15569991; 15704650; 15735742; 15752760; 15941859; 15969628; 15996935; 16051386; 16133360; 16133456; 16278377; 16286998; 16305332; 16398042; 16415795; 16439688; 16552335; 16557578; 16698686; 16698689; 16710414; 16830365; 17038503; 17077283; 17090657; 17095623; 17185613; 17229904; 17253947; 17261663; 17310847; 17429142; 17449014; 17464107; 17474795; 17505307; 17511030; 17656039; 17786144; 17880611; 17885669; 17923501; 17959862; 18025805; 18048043; 18054528; 18061957; 18085638; 18088553; 18092954; 18187924; 18190781; 18218912; 18223188; 18231114; 18292296; 18317882; 18371060; 18402976; 18410526; 18436865; 18511598; 18555590; 18562079; 18604736; 18683236; 18698330; 18757300; 18760838; 18798798; 18813945; 18822690; 18842716; 18922853; 18985821; 19043799; 19157505; 19194276; 19226222; 19244164; 19245435; 19323831; 19340613; 19372622; 19383239; 19406403; 19421145; 19437324; 19535348; 19640275; 19644143; 19661015; 19746588; 19746591; 19753521; 19762535; 19817957; 19855080; 19952356; 20028384; 20038636; 20067819; 20175958; 20181261; 20232575; 20353905; 20356686; 20378847; 20379614; 20388788; 20403242; 20431906; 20479285; 20559119; 20601304; 20639392; 20653822; 20675279; 20702587; 20724541; 20819778; 20821344; 21054781; 21078695; 21206086; 21238532; 21276080; 21308741; 21318598; 21330325; 21330473; 21333372; 21364636; 21367453; 21435112; 21440782; 21457155; 21488087; 21527751; 21559522; 21640411; 21651317; 21670473; 21674250; 21700895; 21710717; 21737787; 21762201; 21808991; 21808992; 21835908; 21873977; 21884210; 21933861; 22009965; 22025365; 22084125; 22118372; 22163120; 22199261; 22233112; 22249946; 22372906; 22395498; 22448926; 22499302; 22547906; 22574784; 22581926; 22775584; 22862965; 22952296; 22980580; 23233446; 23326517; 23327923; 23473998; 23509738; 23529663; 23554290; 23583979; 23625296; 23640491; 23645504; 23696920; 23701943; 23794425; 23803010; 23838926; 23995573; 24030420 CD34 molecule Other designations: CD34 antigen|hematopoietic progenitor cell antigen CD34 CD34 Bin Zhao, Yue Liu, Oliver He BDPLT10 CHDS7 FAT GP3B GP4 GPIV PASIV SCARB3 WEB: http://www.ncbi.nlm.nih.gov/gene CD36 CD36 molecule (thrombospondin receptor) 948 7q11.2 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0000122 (EC: IEA); GO_0001954 (EC: IDA, PMID: 17416590); GO_0002224 (EC: TAS); GO_0002474 (EC: TAS); GO_0002479 (EC: TAS); GO_0002576 (EC: TAS); GO_0002755 (EC: TAS); GO_0005041 (EC: IMP, PMID: 10772654); GO_0005041 (EC: TAS, PMID: 9568716); GO_0005794 (EC: IEA); GO_0005886 (EC: IDA); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 9568716); GO_0006629 (EC: NAS, PMID: 7518447); GO_0006898 (EC: IMP, PMID: 10772654); GO_0006898 (EC: TAS, PMID: 9568716); GO_0006910 (EC: IEA); GO_0007155 (EC: IEA); GO_0007166 (EC: IEA); GO_0007263 (EC: IDA, PMID: 17416590); GO_0007596 (EC: TAS); GO_0008035 (EC: IEA); GO_0008289 (EC: IDA, PMID: 10772654); GO_0009897 (EC: IEA); GO_0009986 (EC: IDA, PMID: 10772654); GO_0009986 (EC: ISS); GO_0010744 (EC: IMP, PMID: 10772654); GO_0010886 (EC: IEA); GO_0015911 (EC: IDA, PMID: 17416590); GO_0016020 (EC: TAS, PMID: 2468669); GO_0019915 (EC: IMP, PMID: 10772654); GO_0019934 (EC: IDA, PMID: 17416590); GO_0030168 (EC: TAS); GO_0030169 (EC: IDA, PMID: 10772654); GO_0030194 (EC: IEA); GO_0030301 (EC: ISS, PMID: 12376530); GO_0030666 (EC: TAS); GO_0031092 (EC: TAS); GO_0032735 (EC: IEA); GO_0032755 (EC: IEA); GO_0032760 (EC: IEA); GO_0034134 (EC: TAS); GO_0034142 (EC: TAS); GO_0034381 (EC: ISS, PMID: 12376530); GO_0034383 (EC: IMP, PMID: 10772654); GO_0035634 (EC: IEA); GO_0038123 (EC: TAS); GO_0038124 (EC: TAS); GO_0042590 (EC: TAS); GO_0042953 (EC: IMP, PMID: 10772654); GO_0042953 (EC: TAS, PMID: 9568716); GO_0042992 (EC: IEA); GO_0043123 (EC: IEA); GO_0043277 (EC: IEA); GO_0043410 (EC: IEA); GO_0044130 (EC: IEA); GO_0044255 (EC: TAS); GO_0044281 (EC: TAS); GO_0044539 (EC: IDA); GO_0045087 (EC: TAS); GO_0045121 (EC: IEA); GO_0045335 (EC: TAS); GO_0050431 (EC: ISS); GO_0050731 (EC: IEA); GO_0050830 (EC: IEA); GO_0055096 (EC: IEA); GO_0060100 (EC: IEA); GO_0060907 (EC: IEA); GO_0070053 (EC: ISS); GO_0070892 (EC: IEA); GO_0071221 (EC: IEA); GO_0071222 (EC: IEA); GO_0071223 (EC: IEA); GO_0071447 (EC: IEA); GO_0071813 (EC: IDA, PMID: 9568716); GO_2000121 (EC: IEA); GO_2000334 (EC: IEA); GO_2000379 (EC: IEA) PMID: 1384492; 1715582; 2468669; 2468670; 2473841; 7503937; 7505064; 7518447; 7521304; 7533783; 7682812; 7686693; 7693034; 7693552; 8467233; 8561798; 8696942; 8798390; 9171348; 9334230; 9555943; 9568716; 10391209; 10487979; 10772654; 10772928; 10772961; 10890433; 11238109; 11377606; 11433350; 11602321; 11668637; 11686358; 11714819; 11718687; 11834946; 11867619; 11872368; 11950861; 12023894; 12031598; 12105195; 12164325; 12169456; 12224819; 12376530; 12477932; 12479587; 12496189; 12506336; 12516552; 12576469; 12598312; 12606036; 12618277; 12664607; 12679131; 12690205; 12716760; 12716848; 12732844; 12801610; 12947091; 12968020; 12971464; 14684613; 14699114; 14702039; 14719070; 14729862; 15048167; 15050739; 15059642; 15064117; 15132977; 15167446; 15221799; 15242332; 15282206; 15339698; 15342556; 15478802; 15489334; 15671915; 15677505; 15735450; 15780035; 15860439; 15897321; 15915335; 15933580; 15978955; 15979077; 16002039; 16037098; 16099393; 16219805; 16263699; 16276419; 16299313; 16344560; 16453284; 16515687; 16556603; 16622019; 16645727; 16670153; 16670819; 16838191; 16870193; 16880211; 16887969; 16908526; 16911630; 16952981; 17067553; 17071479; 17084382; 17311893; 17346709; 17380316; 17412877; 17416590; 17440173; 17496152; 17572512; 17573918; 17581812; 17619827; 17673938; 17710630; 17716309; 17854769; 17888147; 17900273; 17905828; 17924847; 18000176; 18029348; 18035074; 18053692; 18067591; 18263877; 18285332; 18288886; 18299339; 18305138; 18353783; 18441389; 18458151; 18462250; 18497330; 18514070; 18550349; 18558917; 18582374; 18660489; 18671254; 18827892; 18844973; 18981136; 19016618; 19055786; 19065049; 19088437; 19116451; 19136129; 19144874; 19156623; 19175917; 19185504; 19190027; 19203752; 19350111; 19369259; 19403559; 19413744; 19454037; 19489681; 19578796; 19640849; 19667111; 19718657; 19740737; 19864601; 19865095; 19876004; 19893500; 19913121; 19948975; 19996318; 20015873; 20023206; 20037584; 20075072; 20113368; 20139232; 20157514; 20223461; 20333725; 20408759; 20408954; 20414830; 20416077; 20459687; 20485444; 20628086; 20629037; 20637247; 20660057; 20664056; 20684828; 20701912; 20722468; 20935172; 20939828; 20946164; 20947105; 20966904; 20966915; 21091228; 21145461; 21155254; 21203512; 21228269; 21250778; 21262584; 21270117; 21346626; 21378271; 21383152; 21390226; 21437286; 21454644; 21462325; 21478428; 21547502; 21696539; 21727988; 21808142; 21832049; 21835916; 21854984; 21890620; 21949655; 21988832; 22047506; 22050542; 22075538; 22106368; 22113854; 22240721; 22247259; 22275803; 22423221; 22430143; 22558273; 22588808; 22653277; 22687273; 22763563; 22795952; 22869067; 22890011; 22909232; 22993001; 23119050; 23206327; 23213279; 23233532; 23249574; 23427331; 23603908; 23656756; 23726366; 23748423; 23792019; 23817509; 23844572; 23856131; 24009511; 24062612; 24090054; 24284794 CD36 molecule (thrombospondin receptor) Ensembl:ENSG00000135218 HGNC:1663 HPRD:01430 MIM:173510 Vega:OTTHUMG00000155383 Other designations: CD36 antigen (collagen type I receptor, thrombospondin receptor)|GPIIIB|PAS IV|PAS-4 protein|cluster determinant 36|fatty acid translocase|glycoprotein IIIb|leukocyte differentiation antigen CD36|platelet glycoprotein 4|platelet glycoprotein IV|scavenger receptor class B, member 3 CD36 Bin Zhao, Yue Liu, Oliver He T10 WEB: http://www.ncbi.nlm.nih.gov/gene CD38 CD38 molecule 952 4p15 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0001666 (EC: IEA); GO_0003953 (EC: IEA); GO_0005634 (EC: IEA); GO_0005886 (EC: IEA); GO_0007165 (EC: NAS, PMID: 8253715); GO_0007204 (EC: IEA); GO_0007565 (EC: IEA); GO_0009986 (EC: IEA); GO_0016020 (EC: TAS, PMID: 8253715); GO_0016021 (EC: IEA); GO_0016849 (EC: IEA); GO_0030307 (EC: IEA); GO_0030890 (EC: IMP, PMID: 17875758); GO_0032024 (EC: IEA); GO_0032355 (EC: IEA); GO_0032526 (EC: IEA); GO_0032570 (EC: IEA); GO_0033194 (EC: IEA); GO_0042493 (EC: IMP, PMID: 17875758); GO_0043066 (EC: IMP, PMID: 17875758); GO_0045779 (EC: IEA); GO_0045892 (EC: IMP, PMID: 17875758); GO_0045893 (EC: IMP, PMID: 17875758); GO_0045907 (EC: IEA); GO_0050853 (EC: IMP, PMID: 17875758); GO_0060292 (EC: IEA); GO_0070555 (EC: IEA); GO_0097190 (EC: TAS, PMID: 10777496) PMID: 1471258; 2319135; 7539755; 7835083; 7961800; 8172650; 8253715; 9074508; 9263011; 9378973; 9551996; 9754820; 10376802; 10432444; 10477767; 10559984; 10593874; 10636863; 10777496; 11683883; 11836173; 11895784; 12063025; 12242463; 12368155; 12382646; 12386160; 12461619; 12477932; 12529675; 12551845; 12718937; 12763926; 12854897; 12917263; 14523017; 14596927; 14749705; 14759258; 14983032; 14990397; 15028729; 15219386; 15489334; 15556942; 15613544; 15759031; 15764953; 15941914; 15964076; 16154090; 16293598; 16329108; 16369895; 16544364; 16568475; 16571778; 16601673; 16642047; 16825496; 16839787; 16841181; 16861223; 16909600; 16932341; 17028452; 17107912; 17173996; 17191385; 17287729; 17287849; 17322278; 17327405; 17440035; 17534928; 17591784; 17684154; 17786980; 17852458; 17875758; 17931624; 18024373; 18162778; 18178673; 18212246; 18319522; 18322442; 18323656; 18326821; 18341691; 18403265; 18424664; 18431797; 18441094; 18519230; 18519815; 18534062; 18581239; 18616755; 18674817; 18689273; 18759251; 18940667; 18974118; 19021053; 19052657; 19117080; 19240243; 19561535; 19635790; 19644143; 19679010; 19817952; 19866343; 19956559; 20002855; 20237496; 20435366; 20638362; 20640790; 20693316; 20842205; 21051931; 21055809; 21085635; 21134381; 21153349; 21156171; 21182206; 21212793; 21237436; 21330325; 21330473; 21387169; 21423200; 21463115; 21518472; 21528155; 21692849; 21716207; 21765022; 21876768; 21893160; 21933861; 21945028; 22002134; 22020217; 22027397; 22142305; 22171799; 22236458; 22251373; 22278094; 22336563; 22338471; 22556157; 22677461; 22721814; 22773691; 22807456; 22909798; 22955446; 22969159; 23021410; 23123429; 23156678; 23308177; 23716697; 23718062; 23729443; 23755763; 23940051; 24275509 CD38 molecule HGNC:1667 HPRD:00116 MIM:107270 Other designations: ADP-ribosyl cyclase 1|ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase|CD38 antigen (p45)|NAD(+) nucleosidase|cADPr hydrolase 1|cyclic ADP-ribose hydrolase 1 CD38 Bin Zhao, Yue Liu, Oliver He CD154 CD40L HIGM1 IGM IMD3 T-BAM TNFSF5 TRAP gp39 hCD40L WEB: http://www.ncbi.nlm.nih.gov/gene CD40LG CD40 ligand 959 RP3-527F8.3 Xq26 20140408 9606 X protein-coding Official from a nomenclature committee GO_0005125 (EC: IEA); GO_0005164 (EC: IEA); GO_0005174 (EC: IPI, PMID: 9468137); GO_0005615 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 7678552); GO_0006954 (EC: IDA, PMID: 9468137); GO_0007159 (EC: NAS, PMID: 9468137); GO_0009897 (EC: IEA); GO_0016021 (EC: NAS, PMID: 9468137); GO_0030168 (EC: IDA, PMID: 9468137); GO_0030183 (EC: IEA); GO_0032735 (EC: IDA, PMID: 9922218); GO_0042100 (EC: IDA, PMID: 8605945); GO_0043066 (EC: IDA, PMID: 12697681); GO_0045190 (EC: ISS); GO_0048305 (EC: IEA); GO_0050776 (EC: TAS); GO_0051023 (EC: IEA); GO_2000353 (EC: IDA, PMID: 12885753) PMID: 1280226; 1281209; 1385114; 1427881; 7516405; 7532185; 7537298; 7541827; 7543281; 7586644; 7678552; 7678782; 7679206; 7679801; 7688562; 7717401; 7907793; 7999797; 8094231; 8550833; 8589998; 8605945; 8626375; 8889581; 8907262; 9150729; 9468137; 9605317; 9746782; 9873085; 9922218; 10085035; 10510350; 10647992; 11042507; 11123305; 11270473; 11297035; 11358428; 11493450; 11525169; 11676606; 11714772; 11751888; 11792121; 11801648; 11801691; 11816717; 11817328; 11818376; 11826760; 11865444; 11875495; 11891278; 11902141; 11902332; 11918631; 11922919; 11964311; 11978801; 11981870; 11986259; 12011072; 12042657; 12117904; 12117990; 12140747; 12192302; 12207328; 12209602; 12223522; 12352896; 12379582; 12423681; 12427285; 12460235; 12477932; 12509450; 12563087; 12574344; 12592374; 12605316; 12626576; 12646674; 12672403; 12676191; 12695287; 12697681; 12699408; 12707303; 12718765; 12738634; 12742991; 12764232; 12874247; 12885753; 12952351; 12955358; 12960257; 14611725; 14617752; 14623801; 14662879; 14687897; 14734771; 14742996; 14760083; 14764664; 14764743; 14962968; 14963650; 14976003; 14991615; 15067037; 15069543; 15111558; 15115688; 15128830; 15153777; 15191945; 15249506; 15277394; 15302794; 15307939; 15315967; 15345520; 15489334; 15674425; 15741223; 15753667; 15795254; 15808676; 15868137; 15872081; 16014560; 16149136; 16182391; 16186418; 16221206; 16311023; 16378074; 16380494; 16393964; 16396693; 16429138; 16464740; 16494885; 16498500; 16504636; 16545138; 16570157; 16741250; 16777115; 16780932; 16797372; 16888032; 16893496; 16936191; 16963006; 16987056; 17103120; 17106168; 17207965; 17225862; 17237414; 17237447; 17312171; 17319699; 17360404; 17372166; 17392362; 17403203; 17414714; 17433826; 17459878; 17469136; 17562816; 17619839; 17675236; 17703412; 17716773; 17805323; 17845713; 17879023; 17884785; 17893433; 17901373; 17917707; 17918746; 17947713; 18051214; 18054068; 18081708; 18093816; 18156495; 18180380; 18196935; 18217399; 18260168; 18281372; 18339317; 18349065; 18349125; 18373164; 18481160; 18548529; 18554599; 18593367; 18603231; 18641098; 18641297; 18652769; 18658029; 18661398; 18713981; 18714535; 18719603; 18756582; 18787388; 18812691; 18827186; 18835787; 18849075; 18945879; 18946203; 19019166; 19023113; 19056482; 19086656; 19101003; 19120902; 19170966; 19184537; 19201484; 19221099; 19232335; 19258923; 19272596; 19282610; 19318922; 19404646; 19421221; 19422822; 19449444; 19470255; 19494299; 19520616; 19541004; 19564823; 19575287; 19590499; 19656553; 19675172; 19707993; 19723899; 19735272; 19755790; 19811271; 19859083; 19859091; 19889024; 19895673; 19896127; 19906505; 19913121; 19948975; 20006362; 20008286; 20026377; 20039299; 20048211; 20071030; 20107176; 20133813; 20153702; 20174757; 20211016; 20230421; 20301576; 20380698; 20456428; 20457264; 20459687; 20471683; 20485444; 20503287; 20505142; 20505144; 20535218; 20577873; 20628086; 20629665; 20634492; 20676835; 20701912; 20726330; 20734064; 20811042; 20811715; 20832064; 20846521; 20881665; 20978895; 20980002; 20980629; 20981468; 21071692; 21075431; 21138731; 21143381; 21151195; 21162213; 21177803; 21239998; 21242519; 21285457; 21331754; 21337550; 21357544; 21406105; 21414847; 21415255; 21491121; 21543760; 21567389; 21605114; 21616491; 21696538; 21788945; 21898485; 21967264; 22024720; 22058328; 22100896; 22116092; 22139839; 22150414; 22151659; 22193914; 22196954; 22219050; 22231486; 22234746; 22295117; 22298164; 22440854; 22461623; 22492089; 22512415; 22532139; 22552529; 22593611; 22608210; 22689014; 22702645; 22731751; 22750225; 22802415; 22820189; 22889643; 22905203; 22932804; 22948742; 22963373; 22965071; 22984080; 23000501; 23002440; 23039889; 23241952; 23289765; 23325890; 23340290; 23426185; 23434327; 23457387; 23479226; 23538518; 23555843; 23561892; 23604864; 23686494; 23719298; 23918987; 24014238; 24106272; 24117612; 24189063 CD40 ligand Ensembl:ENSG00000102245 HGNC:11935 HPRD:02311 MIM:300386 Vega:OTTHUMG00000022512 Other designations: CD40 antigen ligand|CD40-L|T-B cell-activating molecule|T-cell antigen Gp39|TNF-related activation protein|tumor necrosis factor (ligand) superfamily member 5 CD40LG Bin Zhao, Yue Liu, Oliver He GP110 LAMP4 SCARD1 WEB: http://www.ncbi.nlm.nih.gov/gene CD68 CD68 molecule 968 17p13 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0005765 (EC: IEA); GO_0005886 (EC: IEA); GO_0010008 (EC: IEA); GO_0016020 (EC: TAS, PMID: 7680921); GO_0016021 (EC: IEA); GO_0071310 (EC: IEA) PMID: 7680921; 8125298; 8639768; 9790779; 10985244; 12397372; 12429719; 12477932; 12572894; 12676954; 15214825; 15489334; 15638380; 16263699; 16344560; 16888915; 17052752; 17583472; 18316565; 19165649; 19356953; 19661345; 20333725; 20374310; 21113139; 21192298; 21266828; 21980389; 21988832; 22007938; 22044760; 22163030; 22289504; 22314623; 22395501; 22667341; 22829776; 22948049; 22955918; 22968485; 23241402; 23289476; 23549871; 23555776; 23727038; 23951013 CD68 molecule Ensembl:ENSG00000129226 HGNC:1693 HPRD:01093 MIM:153634 Vega:OTTHUMG00000108146 Other designations: CD68 antigen|macrophage antigen CD68|macrosialin|scavenger receptor class D, member 1 CD68 Bin Zhao, Yue Liu, Oliver He AIM BL-AC/P26 CLEC2C EA1 GP32/28 MLR-3 WEB: http://www.ncbi.nlm.nih.gov/gene CD69 CD69 molecule 969 12p13 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0004888 (EC: TAS, PMID: 8340758); GO_0005509 (EC: IEA); GO_0005887 (EC: TAS, PMID: 8340758); GO_0007165 (EC: TAS, PMID: 8340758); GO_0009897 (EC: IEA); GO_0030246 (EC: IEA); GO_0035690 (EC: IEA) PMID: 1612643; 7665567; 7887967; 8026529; 8100776; 8340758; 8496594; 8528739; 9049297; 10441371; 10480634; 11036086; 11101293; 11438519; 11895929; 11994706; 12077230; 12210415; 12234263; 12398872; 12423306; 12477932; 12540017; 12548561; 12580810; 12626587; 12718936; 12865808; 14728878; 15489334; 15893733; 15952571; 16103171; 16396693; 16525420; 16788832; 17192395; 17237603; 17541278; 17693977; 18593762; 18627570; 18959746; 19275586; 19383348; 19430480; 19543397; 19670272; 20054122; 20237496; 20369839; 20378605; 21152932; 21427408; 21557772; 21990950; 21993667; 22184722; 22456278; 22479639; 22678911; 23454781; 23507197; 23546309; 23758320; 24044963 CD69 molecule Ensembl:ENSG00000110848 HGNC:1694 HPRD:00119 MIM:107273 Vega:OTTHUMG00000168481 Other designations: C-type lectin domain family 2, member C|CD69 antigen (p60, early T-cell activation antigen)|activation inducer molecule (AIM/CD69)|early T-cell activation antigen p60|early activation antigen CD69|early lymphocyte activation antigen|leukocyte surface antigen Leu-23 CD69 Bin Zhao, Yue Liu, Oliver He IGA MB-1 WEB: http://www.ncbi.nlm.nih.gov/gene CD79A CD79a molecule, immunoglobulin-associated alpha 973 19q13.2 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0004888 (EC: IEA); GO_0005771 (EC: ISS); GO_0005886 (EC: TAS); GO_0009897 (EC: ISS); GO_0016021 (EC: IEA); GO_0019815 (EC: ISS); GO_0030183 (EC: ISS); GO_0042100 (EC: ISS); GO_0042113 (EC: ISS); GO_0045121 (EC: ISS); GO_0050853 (EC: ISS) PMID: 1292512; 1395095; 1446073; 1534761; 1538135; 1569106; 1591006; 1639443; 1729378; 1881434; 1940346; 2463161; 6196366; 7500027; 7512031; 7514267; 7516335; 7539038; 7592958; 7643857; 7916003; 7927516; 7989333; 8077654; 8125298; 8144961; 8207205; 8656670; 8666916; 8747711; 9110174; 9120258; 9183005; 9418137; 9531288; 9561918; 10438530; 10540352; 10748115; 11449366; 11907094; 11909947; 12186846; 12403343; 12477932; 12651942; 12886015; 14499622; 15174051; 15492262; 15591116; 16271957; 16517729; 17350472; 17374736; 17701175; 17878339; 18160827; 19243813; 19573080; 19883431; 19913121; 20102401; 20237496; 20628086; 21324920; 21822214; 23264226 CD79a molecule, immunoglobulin-associated alpha Ensembl:ENSG00000105369 HGNC:1698 HPRD:00203 MIM:112205 Vega:OTTHUMG00000182678 Other designations: B-cell antigen receptor complex-associated protein alpha chain|CD79a antigen (immunoglobulin-associated alpha)|MB-1 membrane glycoprotein|ig-alpha|membrane-bound immunoglobulin-associated protein|surface IgM-associated protein CD79A Bin Zhao, Yue Liu, Oliver He CDC2 CDC28A P34CDC2 WEB: http://www.ncbi.nlm.nih.gov/gene CDK1 cyclin-dependent kinase 1 983 10q21.1 20140408 9606 10 protein-coding Official from a nomenclature committee GO_0000082 (EC: TAS); GO_0000083 (EC: TAS); GO_0000086 (EC: TAS); GO_0000165 (EC: TAS); GO_0000186 (EC: TAS); GO_0000187 (EC: TAS); GO_0000226 (EC: TAS); GO_0000278 (EC: TAS); GO_0002224 (EC: TAS); GO_0002755 (EC: TAS); GO_0002756 (EC: TAS); GO_0004672 (EC: NAS, PMID: 9001210); GO_0004674 (EC: IDA, PMID: 19879842); GO_0004693 (EC: IDA, PMID: 11069302); GO_0004693 (EC: TAS); GO_0005515 (EC: IPI, PMID: 10373560); GO_0005524 (EC: IEA); GO_0005634 (EC: IDA); GO_0005654 (EC: TAS); GO_0005737 (EC: IDA); GO_0005739 (EC: TAS, PMID: 19917720); GO_0005815 (EC: IEA); GO_0005829 (EC: TAS); GO_0005876 (EC: IDA, PMID: 11069302); GO_0006260 (EC: TAS); GO_0006281 (EC: TAS); GO_0006461 (EC: IEA); GO_0006915 (EC: IEA); GO_0007067 (EC: IEA); GO_0007077 (EC: TAS); GO_0007095 (EC: IEA); GO_0007098 (EC: TAS, PMID: 19364923); GO_0007173 (EC: TAS); GO_0007264 (EC: TAS); GO_0007265 (EC: TAS); GO_0007344 (EC: TAS); GO_0007411 (EC: TAS); GO_0007569 (EC: IEA); GO_0008286 (EC: TAS); GO_0008353 (EC: IDA, PMID: 12721286); GO_0008543 (EC: TAS); GO_0009636 (EC: IEA); GO_0010628 (EC: IEA); GO_0014038 (EC: TAS, PMID: 17200138); GO_0014070 (EC: IEA); GO_0014075 (EC: IEA); GO_0014823 (EC: IEA); GO_0016477 (EC: TAS, PMID: 17200138); GO_0018105 (EC: IDA, PMID: 19879842); GO_0030261 (EC: IEA); GO_0030332 (EC: IEA); GO_0030496 (EC: IDA, PMID: 11069302); GO_0030544 (EC: IEA); GO_0030855 (EC: IEP); GO_0031100 (EC: IEA); GO_0031145 (EC: TAS); GO_0033160 (EC: IEA); GO_0034134 (EC: TAS); GO_0034138 (EC: TAS); GO_0034142 (EC: TAS); GO_0034146 (EC: TAS); GO_0034162 (EC: TAS); GO_0034166 (EC: TAS); GO_0034501 (EC: IDA, PMID: 18195732); GO_0035173 (EC: IEA); GO_0035666 (EC: TAS); GO_0038095 (EC: TAS); GO_0038123 (EC: TAS); GO_0038124 (EC: TAS); GO_0042493 (EC: IEA); GO_0043066 (EC: IDA, PMID: 11069302); GO_0045087 (EC: TAS); GO_0045471 (EC: IEA); GO_0045740 (EC: IEA); GO_0045931 (EC: IEA); GO_0045995 (EC: TAS); GO_0046686 (EC: IEA); GO_0046688 (EC: IEA); GO_0048011 (EC: TAS); GO_0048678 (EC: IEA); GO_0051403 (EC: TAS); GO_0051437 (EC: TAS); GO_0051439 (EC: TAS); GO_0055015 (EC: IEA); GO_0060045 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867); GO_0070301 (EC: IEA) PMID: 914146; 1310466; 1318195; 1384126; 1388288; 1400350; 1406653; 1425574; 1628647; 1717476; 1748630; 1756735; 1828290; 1916766; 1939057; 2013279; 2183353; 2227411; 2344612; 2473839; 2538242; 2541912; 2570636; 2686978; 3289755; 3553962; 7474080; 7474100; 7494303; 7499230; 7578274; 7590285; 7592773; 7635160; 7666531; 7673335; 7716549; 7724583; 7737117; 7769006; 7790358; 7799941; 7822264; 7876309; 7902715; 7903056; 7925482; 7944411; 7949095; 7969176; 7983050; 8034666; 8051108; 8051175; 8070405; 8084605; 8087847; 8119945; 8125092; 8127873; 8242750; 8325880; 8376365; 8397206; 8397207; 8404858; 8423786; 8428596; 8440392; 8463339; 8475101; 8491187; 8524869; 8548803; 8565853; 8626512; 8626527; 8631817; 8652557; 8662825; 8663071; 8672508; 8806671; 8910336; 9001210; 9053846; 9069267; 9094673; 9109675; 9126608; 9130708; 9141461; 9188632; 9199321; 9235942; 9242535; 9244350; 9247342; 9258347; 9268380; 9271440; 9295339; 9315091; 9315635; 9398320; 9467962; 9515786; 9520381; 9524113; 9525956; 9560267; 9575153; 9585407; 9600099; 9614189; 9668078; 9725910; 9733650; 9753325; 9774639; 9885575; 9891079; 9926943; 9988268; 9990288; 10077596; 10339564; 10359664; 10362260; 10373560; 10383391; 10395539; 10403367; 10497277; 10502411; 10504341; 10524633; 10564259; 10602502; 10636877; 10656688; 10712923; 10716937; 10747892; 10764745; 10766737; 10767298; 10769027; 10793135; 10825186; 10864927; 10884347; 10924145; 10938080; 10958988; 10973963; 11034995; 11069302; 11076863; 11076968; 11113134; 11113184; 11135364; 11136719; 11259605; 11278541; 11278991; 11285280; 11310559; 11326318; 11327730; 11331587; 11395479; 11444800; 11470801; 11504921; 11516829; 11520933; 11531413; 11549262; 11559705; 11574543; 11584018; 11598127; 11683421; 11687586; 11774038; 11779217; 11782384; 11836499; 11861764; 11878934; 11895447; 11901153; 11953320; 11980914; 11986303; 12058066; 12077309; 12107172; 12124778; 12145207; 12151413; 12177195; 12186947; 12190313; 12200623; 12221128; 12361598; 12372621; 12397081; 12407107; 12411508; 12450396; 12468530; 12477932; 12525641; 12551973; 12556484; 12569090; 12569365; 12586835; 12604359; 12612056; 12612082; 12613668; 12648761; 12676926; 12721286; 12742823; 12771130; 12775724; 12791267; 12810701; 12832492; 12839990; 12852856; 12853968; 12881709; 12884029; 12912980; 14499622; 14551205; 14635192; 14645578; 14654553; 14697231; 14993212; 15014043; 15016823; 15024056; 15030318; 15050687; 15070733; 15073847; 15082718; 15125835; 15142377; 15145941; 15147269; 15175024; 15181148; 15215233; 15265780; 15276183; 15311285; 15317660; 15345747; 15367677; 15368451; 15474478; 15489334; 15489336; 15525513; 15525677; 15531913; 15541388; 15578977; 15582998; 15591787; 15592455; 15604258; 15635413; 15662526; 15674323; 15678101; 15725353; 15735702; 15735705; 15767402; 15780175; 15782160; 15790566; 15800651; 15817944; 15888452; 15951569; 15989971; 16009130; 16036217; 16109376; 16118207; 16142332; 16159883; 16192727; 16196087; 16198290; 16205633; 16226712; 16237118; 16247472; 16258277; 16344560; 16354571; 16371510; 16377132; 16381901; 16385451; 16407259; 16427064; 16458891; 16462731; 16465393; 16474839; 16478538; 16519687; 16533053; 16565220; 16629900; 16682949; 16760428; 16784539; 16807237; 16880735; 16880739; 16888198; 16998479; 17011204; 17012222; 17013563; 17043241; 17098733; 17159347; 17171635; 17172867; 17192257; 17200138; 17242184; 17274640; 17327911; 17349584; 17351640; 17359356; 17373700; 17386261; 17419986; 17431037; 17433108; 17466630; 17472438; 17474786; 17488622; 17498878; 17525531; 17540176; 17586317; 17636382; 17679094; 17681274; 17725712; 17906618; 17960875; 18003885; 18025303; 18029348; 18056802; 18069625; 18195732; 18201571; 18230152; 18245089; 18247328; 18271526; 18272572; 18272575; 18329369; 18337751; 18347064; 18356527; 18372919; 18408765; 18434602; 18445273; 18450493; 18457437; 18471975; 18477460; 18480403; 18490441; 18514189; 18550795; 18560763; 18568422; 18593881; 18615582; 18635963; 18655026; 18781797; 18799590; 18950845; 19048596; 19056867; 19061641; 19066288; 19134343; 19158392; 19162005; 19223178; 19275580; 19275583; 19275586; 19275588; 19303298; 19344781; 19364923; 19369249; 19375851; 19454010; 19458171; 19471022; 19473963; 19483727; 19509060; 19615732; 19664338; 19683496; 19687009; 19723060; 19725879; 19737929; 19738201; 19786724; 19789190; 19815027; 19837665; 19879842; 19884882; 19917720; 20062077; 20068230; 20068231; 20126263; 20169205; 20171170; 20181698; 20228808; 20360007; 20360068; 20367638; 20368335; 20368358; 20379221; 20395957; 20404109; 20412769; 20439461; 20444701; 20508983; 20526282; 20581839; 20711190; 20733055; 20739936; 20808790; 20810654; 20890132; 20935635; 20937773; 20956543; 20974803; 20974812; 21041660; 21059642; 21081492; 21081666; 21120602; 21123648; 21131960; 21135039; 21139048; 21148318; 21262764; 21308745; 21319273; 21325631; 21379580; 21406398; 21454540; 21488187; 21489275; 21498573; 21504622; 21522128; 21525341; 21569376; 21659531; 21693764; 21712819; 21743465; 21767532; 21813648; 21840486; 21871177; 21871181; 21875946; 21878504; 21878640; 21887332; 21890473; 21900237; 21900495; 21906983; 21907836; 21918813; 21924351; 21925791; 21951856; 21952639; 21963094; 21987572; 21987589; 21988832; 21998300; 22024133; 22053931; 22071694; 22101338; 22137483; 22158041; 22163316; 22266860; 22268729; 22407595; 22482362; 22496227; 22505724; 22552942; 22580043; 22623428; 22689984; 22718829; 22726437; 22768111; 22784093; 22814604; 22848730; 22863883; 22871736; 22907750; 22939629; 22949227; 22962268; 22965228; 23000965; 23045552; 23264621; 23330000; 23355470; 23383273; 23455152; 23471882; 23518499; 23525902; 23532886; 23543736; 23602568; 23619525; 23667531; 23720738; 23738518; 23775624; 23776131; 23814058; 23824909; 23901111; 23908594; 23921553; 23933584; 23956138; 23958962; 23966160; 23990466; 24101154; 24137814; 24248602; 24250222; 24457600 cyclin-dependent kinase 1 Ensembl:ENSG00000170312 HGNC:1722 HPRD:00302 MIM:116940 Vega:OTTHUMG00000018290 Other designations: cell cycle controller CDC2|cell division control protein 2 homolog|cell division cycle 2, G1 to S and G2 to M|cell division protein kinase 1|p34 protein kinase CDK1 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene CDH9 cadherin 9, type 2 (T1-cadherin) 1007 5p14 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0003674 (EC: ND); GO_0005509 (EC: IEA); GO_0005886 (EC: TAS); GO_0007156 (EC: IEA); GO_0016021 (EC: IEA); GO_0016337 (EC: NAS, PMID: 10861224); GO_0034329 (EC: TAS); GO_0034332 (EC: TAS); GO_0045216 (EC: TAS) PMID: 2059658; 7806582; 9219219; 10835267; 10861224; 12477932; 15489334; 16344560; 17668045; 19322201; 19404256; 21079607; 22589738; 22846907; 22872573; 23279374; 23870195 cadherin 9, type 2 (T1-cadherin) Other designations: T1-cadherin|cadherin-9 CDH9 Bin Zhao, Yue Liu, Oliver He ASRT7 CGP-39 GP-39 GP39 HC-gp39 HCGP-3P YKL-40 YKL40 YYL-40 hCGP-39 WEB: http://www.ncbi.nlm.nih.gov/gene CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) 1116 1q32.1 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0004568 (EC: IDA, Qualifier: NOT, PMID: 8245017); GO_0005201 (EC: NAS, PMID: 8245017); GO_0005578 (EC: NAS, PMID: 8245017); GO_0005615 (EC: IDA, PMID: 8245017); GO_0005737 (EC: ISS); GO_0005783 (EC: ISS); GO_0005975 (EC: IEA); GO_0006032 (EC: IEA); GO_0006954 (EC: IEP, PMID: 16234240); GO_0007250 (EC: ISS); GO_0008061 (EC: IDA, PMID: 12775711); GO_0009612 (EC: IEP); GO_0010800 (EC: ISS); GO_0030324 (EC: IMP, PMID: 18403759); GO_0034612 (EC: IEP, PMID: 16234240); GO_0045766 (EC: IMP); GO_0051216 (EC: NAS, PMID: 8245017); GO_0051897 (EC: IMP); GO_0070374 (EC: IMP); GO_0070555 (EC: IEP, PMID: 16234240); GO_0070741 (EC: IEP); GO_0071356 (EC: ISS); GO_0072606 (EC: ISS) PMID: 2375755; 8125298; 8245017; 9244440; 9417865; 9492324; 10461474; 10515841; 10772238; 11986266; 12069012; 12071845; 12124825; 12435396; 12477932; 12759455; 12775711; 12799184; 12851408; 12933821; 12957359; 14555515; 14702039; 15489334; 15569925; 15788675; 15829322; 15867231; 16234240; 16344560; 16818690; 16955240; 16960935; 17020973; 17160890; 17236752; 17543889; 17545529; 17565739; 17599744; 17631744; 17712177; 17957792; 18054022; 18092325; 18157633; 18182077; 18190830; 18217402; 18280741; 18281018; 18403759; 18480670; 18490894; 18570155; 18615353; 18650368; 18708058; 18723551; 18767121; 18802121; 18957531; 19003601; 19070929; 19089918; 19106306; 19197227; 19200605; 19255724; 19264973; 19308408; 19421404; 19536175; 19550125; 19568425; 19644363; 19666003; 19694834; 19701838; 19765801; 19767768; 19961288; 20012147; 20047081; 20051317; 20056225; 20099501; 20174854; 20224722; 20226308; 20237129; 20300754; 20347092; 20356987; 20424473; 20499402; 20506295; 20538957; 20540736; 20640910; 20650887; 20656949; 20674561; 20800603; 20840668; 20926018; 20943784; 20961744; 20972697; 21029458; 21143859; 21159401; 21159721; 21257319; 21258804; 21272568; 21385870; 21391238; 21478032; 21496058; 21530869; 21642896; 21714862; 21715039; 21782391; 21820815; 21831900; 21858537; 21934681; 21949714; 21953450; 21968467; 21978279; 22036069; 22056877; 22074331; 22095223; 22103814; 22140133; 22146624; 22183936; 22209020; 22209156; 22211103; 22281830; 22351690; 22366530; 22433444; 22480951; 22534532; 22554524; 22572101; 22583189; 22628227; 22642467; 22647735; 22655594; 22809439; 22937056; 22955689; 22986489; 22989351; 23071724; 23149946; 23170831; 23190377; 23197259; 23226395; 23227243; 23272150; 23279705; 23291472; 23294528; 23364142; 23397672; 23490418; 23525579; 23551676; 23562456; 23573226; 23591413; 23613996; 23628340; 23671604; 23706599; 23792508; 23918300; 24324091 chitinase 3-like 1 (cartilage glycoprotein-39) Ensembl:ENSG00000133048 HGNC:1932 HPRD:03314 MIM:601525 Vega:OTTHUMG00000042122 Other designations: 39 kDa synovial protein|cartilage glycoprotein 39|chitinase-3-like protein 1 CHI3L1 Bin Zhao, Yue Liu, Oliver He BACTS2 CIS CIS-1 G18 SOCS WEB: http://www.ncbi.nlm.nih.gov/gene CISH cytokine inducible SH2-containing protein 1154 3p21.3 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0001558 (EC: NAS, PMID: 9465889); GO_0003674 (EC: ND); GO_0005515 (EC: IPI, PMID: 16273093); GO_0005575 (EC: ND); GO_0005829 (EC: TAS); GO_0005886 (EC: IEA); GO_0007205 (EC: IEA); GO_0009968 (EC: IEA); GO_0016567 (EC: IEA); GO_0035556 (EC: NAS, PMID: 10902923); GO_0060397 (EC: TAS) PMID: 7796808; 9465889; 9774439; 10514520; 10517496; 10585430; 10902923; 10969179; 11032736; 11713228; 12076535; 12077274; 12477932; 12586763; 12618484; 12648219; 14630083; 14707129; 15231748; 15470047; 15489334; 15644415; 16273093; 16344560; 16684815; 16961462; 17666591; 18420585; 18508766; 18647318; 18820827; 19592657; 19595407; 19622774; 19807022; 19913121; 20484391; 20628086; 21234523; 21383382; 21988832; 22033525; 22213096; 22817871; 23426819 cytokine inducible SH2-containing protein Ensembl:ENSG00000114737 HGNC:1984 HPRD:03897 MIM:602441 Vega:OTTHUMG00000156853 Other designations: cytokine-inducible SH2-containing protein|cytokine-inducible inhibitor of signaling type 1B|suppressor of cytokine signaling CISH Bin Zhao, Yue Liu, Oliver He CKSHS2 WEB: http://www.ncbi.nlm.nih.gov/gene CKS2 CDC28 protein kinase regulatory subunit 2 1164 RP11-8C21.2 9q22 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0000079 (EC: TAS, PMID: 2227411); GO_0007049 (EC: NAS, PMID: 15504738); GO_0007051 (EC: NAS, PMID: 15504738); GO_0007127 (EC: IEA); GO_0008283 (EC: TAS, PMID: 8211159); GO_0016538 (EC: IEA); GO_0048015 (EC: NAS, PMID: 15504738) PMID: 2227411; 8211159; 8697818; 12477932; 14622140; 15489334; 15504738; 15900300; 15989971; 16169070; 16189514; 17336302; 17388661; 18471975; 18498131; 18625720; 19034516; 19483727; 19786724; 19845855; 20360068; 20920335; 21139048; 21617860; 21672358; 21697511; 21906983; 21948653; 21988832; 22505724; 23000965; 23121546; 23455922; 23602568; 23861775; 24250222 CDC28 protein kinase regulatory subunit 2 Ensembl:ENSG00000123975 HGNC:2000 HPRD:00300 MIM:116901 Vega:OTTHUMG00000020180 Other designations: CDC28 protein kinase 2|CKS-2|CKS1(S. cerevisiae Cdc28/Cdc2 kinase subunit) homolog-2|cyclin-dependent kinases regulatory subunit 2 CKS2 Bin Zhao, Yue Liu, Oliver He CLCK1 ClC-K1 hClC-Ka WEB: http://www.ncbi.nlm.nih.gov/gene CLCNKA chloride channel, voltage-sensitive Ka 1187 RP11-5P18.7 1p36 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005247 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 8041726); GO_0006810 (EC: TAS, PMID: 8041726); GO_0007588 (EC: TAS, PMID: 8041726); GO_0030554 (EC: IEA); GO_0034220 (EC: TAS); GO_0034707 (EC: IEA); GO_0044070 (EC: TAS, PMID: 8041726); GO_0055085 (EC: TAS) PMID: 8041726; 8125298; 8544406; 8812470; 9046241; 11734858; 12477932; 15044642; 15489334; 16849430; 17081983; 17510212; 17562318; 17652939; 18094726; 18648499; 19913121; 20628086; 20805576; 21248228; 23850580 chloride channel, voltage-sensitive Ka Ensembl:ENSG00000186510 HGNC:2026 HPRD:03608 MIM:602024 Vega:OTTHUMG00000009529 Other designations: chloride channel Ka|chloride channel protein ClC-Ka|chloride channel, kidney, A CLCNKA Bin Zhao, Yue Liu, Oliver He APO-J APOJ CLI CLU1 CLU2 KUB1 NA1/NA2 SGP-2 SGP2 SP-40 TRPM-2 TRPM2 WEB: http://www.ncbi.nlm.nih.gov/gene CLU clusterin 1191 AAG4 8p21-p12 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0001836 (EC: IC, PMID: 16113678); GO_0002576 (EC: TAS); GO_0005515 (EC: IPI, PMID: 16113678); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 11123922); GO_0005634 (EC: IEA); GO_0005739 (EC: IDA, PMID: 16113678); GO_0005783 (EC: IEA); GO_0005829 (EC: IEA); GO_0006629 (EC: NAS, PMID: 2387851); GO_0006956 (EC: TAS, PMID: 1585460); GO_0006958 (EC: IEA); GO_0007596 (EC: TAS); GO_0009615 (EC: IEP, PMID: 16548883); GO_0016887 (EC: IDA, Qualifier: NOT, PMID: 11123922); GO_0030168 (EC: TAS); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0031093 (EC: TAS); GO_0031625 (EC: IDA); GO_0031966 (EC: IEA); GO_0032436 (EC: IMP); GO_0032463 (EC: IMP, PMID: 16113678); GO_0034366 (EC: IDA, PMID: 16682745); GO_0042583 (EC: IEA); GO_0043065 (EC: IMP); GO_0043691 (EC: TAS, PMID: 16682745); GO_0045087 (EC: IEA); GO_0048471 (EC: IDA); GO_0050821 (EC: IDA, PMID: 11123922); GO_0051092 (EC: IMP); GO_0051787 (EC: IDA, PMID: 11123922); GO_0051787 (EC: IPI, PMID: 19996109); GO_0051788 (EC: IDA, PMID: 19996109); GO_0061077 (EC: IDA, PMID: 11123922); GO_0070062 (EC: IDA, PMID: 19056867); GO_0072562 (EC: IDA); GO_0097193 (EC: IDA); GO_1902230 (EC: IMP, PMID: 16113678); GO_2000060 (EC: IMP); GO_2001244 (EC: IMP) PMID: 1424805; 1491011; 1551440; 1585460; 1903064; 1924317; 1974459; 2185274; 2387851; 2454950; 2601725; 2721499; 2780565; 2780570; 3154963; 3167096; 7615015; 7626703; 7768901; 8181474; 8292612; 8314591; 8328966; 8345200; 8387101; 8555189; 8634259; 8752142; 8759347; 8843912; 8889548; 9228033; 9336835; 9537999; 10066740; 10219089; 10329371; 10694874; 11123922; 11186422; 11570883; 11714447; 11795992; 11813210; 11892985; 11904161; 11906815; 12082621; 12172907; 12176985; 12200037; 12393179; 12427144; 12429802; 12470829; 12477932; 12551933; 12679903; 12754519; 12824284; 12860995; 12867999; 12882985; 14618611; 14630798; 14702039; 14718574; 14760718; 15033782; 15133840; 15146195; 15158456; 15174051; 15247015; 15252304; 15304052; 15342556; 15389725; 15480429; 15489334; 15492264; 15499376; 15538973; 15591223; 15649646; 15689620; 15791650; 15809754; 15883054; 15925890; 15929184; 15955107; 16113678; 16179938; 16263699; 16331665; 16335952; 16421571; 16464517; 16490286; 16548883; 16675913; 16682745; 16709604; 16709934; 16740002; 16775601; 16806233; 16955214; 17043677; 17048076; 17056579; 17080454; 17148459; 17170699; 17203891; 17224269; 17260971; 17322305; 17407782; 17412999; 17420006; 17451556; 17512083; 17534116; 17535098; 17689225; 17855704; 17872975; 17974975; 18079682; 18082619; 18097679; 18239862; 18378577; 18458059; 18514801; 18542050; 18612545; 18624398; 18649357; 18709641; 18712185; 18714397; 18786636; 18806885; 18813793; 18842294; 19056867; 19118032; 19137541; 19165232; 19166932; 19177010; 19182256; 19220628; 19264665; 19289586; 19344414; 19353783; 19357365; 19391138; 19413638; 19446882; 19535339; 19542874; 19651157; 19664600; 19734902; 19734903; 19757199; 19793084; 19814590; 19878569; 19878770; 19878774; 19879420; 19879421; 19879422; 19879423; 19903339; 19903745; 19935703; 19940549; 19996109; 20000738; 20007348; 20009887; 20019877; 20028970; 20057494; 20058210; 20068069; 20096688; 20195357; 20209083; 20353268; 20360068; 20410100; 20460622; 20497247; 20534741; 20554627; 20570404; 20599866; 20603455; 20614220; 20674675; 20697030; 20738160; 20739100; 20842452; 20847305; 20850846; 20855565; 20873220; 20930273; 21042904; 21043527; 21059989; 21135756; 21163940; 21224044; 21240462; 21242307; 21280673; 21300948; 21347408; 21379329; 21397462; 21422520; 21447104; 21460841; 21460853; 21467232; 21467285; 21505792; 21508640; 21525168; 21527247; 21543606; 21567405; 21573492; 21627779; 21630085; 21633299; 21732348; 21761117; 21824521; 21892414; 21899841; 21900379; 21912625; 21953030; 21953454; 21980627; 21987172; 21988832; 21998749; 22012253; 22013110; 22015308; 22016805; 22068036; 22082661; 22122982; 22130675; 22145905; 22159129; 22166956; 22179788; 22232000; 22234156; 22236192; 22248099; 22258514; 22266332; 22268729; 22274961; 22296908; 22391565; 22402018; 22465014; 22506010; 22532874; 22539578; 22545109; 22569264; 22613415; 22617144; 22647452; 22689054; 22701550; 22795969; 22832520; 22863883; 22889670; 22896337; 22902018; 22906254; 22952074; 22975582; 22981431; 22990118; 23010347; 23051594; 23099883; 23174100; 23201481; 23208459; 23209684; 23276503; 23279642; 23411014; 23416242; 23455922; 23457489; 23538443; 23573206; 23589125; 23602568; 23621580; 23650005; 23673647; 23702390; 23769013; 23770713; 23786771; 23956692; 24073260 clusterin Ensembl:ENSG00000120885 HGNC:2095 HPRD:01706 MIM:185430 Vega:OTTHUMG00000102114 Other designations: aging-associated protein 4|apolipoprotein J|complement cytolysis inhibitor|complement lysis inhibitor|complement-associated protein SP-40,40|ku70-binding protein 1|sulfated glycoprotein 2|testosterone-repressed prostate message 2 CLU Bin Zhao, Yue Liu, Oliver He CD191 CKR-1 CKR1 CMKBR1 HM145 MIP1aR SCYAR1 WEB: http://www.ncbi.nlm.nih.gov/gene CCR1 chemokine (C-C motif) receptor 1 1230 3p21 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0002407 (EC: TAS, PMID: 16621978); GO_0004435 (EC: IDA, PMID: 10734056); GO_0004950 (EC: IDA, PMID: 10660125); GO_0005515 (EC: IPI, PMID: 15001559); GO_0005886 (EC: IDA, PMID: 10660125); GO_0005886 (EC: IMP, PMID: 15001559); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 7505609); GO_0006816 (EC: IDA, PMID: 10734056); GO_0006874 (EC: IDA, PMID: 10734056); GO_0006887 (EC: IDA, PMID: 10734056); GO_0006935 (EC: NAS, PMID: 15474493); GO_0006954 (EC: IEA); GO_0006955 (EC: IDA, PMID: 10734056); GO_0007155 (EC: TAS, PMID: 10910894); GO_0007166 (EC: TAS, PMID: 10770925); GO_0007187 (EC: TAS, PMID: 7505609); GO_0007204 (EC: IDA, PMID: 10734056); GO_0007267 (EC: IDA, PMID: 10734056); GO_0008152 (EC: IDA, PMID: 10734056); GO_0009611 (EC: TAS, PMID: 7505609); GO_0009897 (EC: IDA, PMID: 10706735); GO_0010629 (EC: IMP); GO_0016493 (EC: IDA, PMID: 10734056); GO_0019221 (EC: NAS, PMID: 15474493); GO_0019957 (EC: IPI, PMID: 10660125); GO_0030502 (EC: IMP); GO_0035717 (EC: IPI, PMID: 10660125); GO_0045672 (EC: IMP); GO_0051928 (EC: IDA, PMID: 15764707); GO_0070098 (EC: IDA); GO_0070374 (EC: IMP); GO_0071791 (EC: IPI, PMID: 10660125); GO_0090026 (EC: IDA, PMID: 18587271) PMID: 2834384; 7505609; 7545673; 7594543; 7679328; 7683036; 8011297; 8530354; 8626727; 8631787; 8699119; 9115216; 9143512; 9289016; 9346309; 9558365; 9886417; 10094132; 10202040; 10583963; 10660125; 10702689; 10706735; 10734056; 10770925; 10910894; 11085751; 11110672; 11116158; 11449371; 11470772; 11804551; 11832479; 11920567; 12070001; 12085329; 12270118; 12477932; 12651617; 12763925; 12794150; 14530297; 14595653; 14637022; 14674010; 15001559; 15039444; 15053339; 15103513; 15265234; 15337751; 15474493; 15489334; 15548526; 15764707; 15927850; 15950672; 16182378; 16226254; 16323127; 16621978; 16837468; 16969502; 17135764; 17192849; 17298994; 17336272; 17389578; 17464174; 17558413; 17914560; 18178867; 18240029; 18311140; 18559339; 18577758; 18587271; 18972130; 19017998; 19423540; 19553544; 19603542; 19664396; 19687291; 19693089; 19913121; 20015385; 20056178; 20086017; 20154287; 20190752; 20406964; 20429924; 20438785; 20628086; 20634891; 20802378; 20921899; 21148810; 21942940; 22007486; 22104149; 22650026; 22727097; 22829007; 22842622; 23054685; 23125416; 23217400; 23219091; 23233369; 23276697; 23291587; 24056371 chemokine (C-C motif) receptor 1 Ensembl:ENSG00000163823 HGNC:1602 HPRD:03101 MIM:601159 Vega:OTTHUMG00000133451 Other designations: C-C CKR-1|C-C chemokine receptor type 1|CC-CKR-1|CCR-1|LD78 receptor|MIP-1alpha-R|RANTES receptor|RANTES-R|macrophage inflammatory protein 1-alpha receptor CCR1 Bin Zhao, Yue Liu, Oliver He CB-2 CB2 CX5 WEB: http://www.ncbi.nlm.nih.gov/gene CNR2 cannabinoid receptor 2 (macrophage) 1269 RP11-4M23.1 1p36.11 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001975 (EC: IEA); GO_0004949 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 8679694); GO_0006954 (EC: IEA); GO_0006955 (EC: TAS, PMID: 7556170); GO_0007187 (EC: TAS, PMID: 8679694); GO_0007610 (EC: TAS, PMID: 7556170); GO_0019233 (EC: IEA); GO_0030425 (EC: IEA); GO_0031234 (EC: IEA); GO_0032229 (EC: IEA); GO_0032496 (EC: IEA); GO_0033004 (EC: IEA); GO_0043204 (EC: IEA); GO_0045759 (EC: IEA); GO_0050728 (EC: IEA); GO_0051001 (EC: IEA) PMID: 7556170; 7689702; 8679694; 10051546; 11727770; 12095632; 12153574; 12417328; 12477932; 12511587; 12663043; 12711605; 12799277; 14657172; 14764676; 14966196; 15039279; 15266552; 15456404; 15472222; 15728830; 15765409; 15845647; 15927811; 16139274; 16204352; 16406364; 16503355; 16513651; 16547349; 16563625; 16624285; 17015679; 17068343; 17074588; 17189959; 17223358; 17327359; 17334644; 17390085; 17613768; 17660390; 17678969; 17923791; 18068305; 18092149; 18221003; 18240029; 18286196; 18334483; 18419603; 18483286; 18577758; 18599552; 18614816; 18636169; 18799087; 18991891; 19027245; 19053233; 19058789; 19071106; 19328464; 19397896; 19442614; 19477951; 19480992; 19496827; 19505450; 19547718; 19565271; 19596672; 19730968; 19757078; 19768813; 19858202; 19913121; 19931541; 19931854; 20041802; 20089805; 20090845; 20124950; 20133454; 20307616; 20335147; 20369362; 20468064; 20494466; 20602678; 20607655; 20621164; 20628086; 20854251; 21251115; 21450051; 21457344; 21467997; 21472688; 21537344; 21539938; 21626285; 21640764; 21649637; 21658778; 21670103; 21735070; 21828121; 21861534; 22130134; 22134924; 22256945; 22465144; 22532560; 22534181; 22578958; 22763024; 22814029; 22826533; 22927922; 23296125; 23299999; 23361273; 23406660; 23463725; 23471521; 23537664; 23611779; 23620805; 23667597; 23706402 cannabinoid receptor 2 (macrophage) Ensembl:ENSG00000188822 HGNC:2160 HPRD:05444 MIM:605051 Other designations: cannabinoid receptor 2|testis-dominant CNR2 isoform CB2 CNR2 Bin Zhao, Yue Liu, Oliver He OI4 WEB: http://www.ncbi.nlm.nih.gov/gene COL1A1 collagen, type I, alpha 1 1277 17q21.33 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0001501 (EC: IMP, PMID: 14976317); GO_0001568 (EC: IMP, PMID: 17211858); GO_0001649 (EC: IEA); GO_0001957 (EC: IEA); GO_0001958 (EC: IEA); GO_0005201 (EC: IEA); GO_0005515 (EC: IPI, PMID: 14749390); GO_0005576 (EC: TAS); GO_0005584 (EC: IMP, PMID: 14976317); GO_0005615 (EC: IDA); GO_0005788 (EC: TAS); GO_0007584 (EC: IEA); GO_0007596 (EC: TAS); GO_0007601 (EC: IMP, PMID: 17557158); GO_0007605 (EC: IMP, PMID: 17489845); GO_0010718 (EC: IDA); GO_0010812 (EC: IEA); GO_0015031 (EC: IEA); GO_0022617 (EC: TAS); GO_0030168 (EC: TAS); GO_0030198 (EC: TAS); GO_0030199 (EC: IMP, PMID: 14976317); GO_0030335 (EC: IDA); GO_0030574 (EC: TAS); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0031012 (EC: ISS, Qualifier: colocalizes_with); GO_0031960 (EC: IEA); GO_0032355 (EC: IEA); GO_0032964 (EC: IMP, PMID: 15095409); GO_0034504 (EC: IDA); GO_0034505 (EC: IMP, PMID: 17118335); GO_0042542 (EC: IEA); GO_0042802 (EC: IDA, PMID: 17211858); GO_0043434 (EC: IEA); GO_0043589 (EC: IMP, PMID: 17211858); GO_0045893 (EC: IDA); GO_0046872 (EC: IEA); GO_0048407 (EC: IDA, PMID: 8900172); GO_0048706 (EC: IMP, PMID: 18553566); GO_0050900 (EC: TAS); GO_0051591 (EC: IEA); GO_0060325 (EC: IEA); GO_0060346 (EC: IEA); GO_0060351 (EC: IEA); GO_0070208 (EC: IEA); GO_0071230 (EC: IEA); GO_0071260 (EC: IEA); GO_0071300 (EC: IEA); GO_0071560 (EC: IEA); GO_0090263 (EC: IDA) PMID: 1303238; 1339453; 1377218; 1409674; 1460047; 1468447; 1511982; 1613761; 1634225; 1693626; 1715582; 1718984; 1730778; 1737847; 1770532; 1787829; 1870989; 1874719; 1895312; 1939261; 1939645; 1953667; 1988452; 1995349; 2010058; 2035536; 2036375; 2037280; 2116413; 2156854; 2169412; 2211725; 2295701; 2318855; 2339700; 2374517; 2446864; 2468670; 2470760; 2511192; 2745420; 2745554; 2767050; 2777764; 2794057; 2822714; 2843432; 2857713; 2913053; 2981843; 3016737; 3082886; 3108247; 3170557; 3178743; 3244312; 3264153; 3340531; 3403550; 3480516; 3490481; 3571333; 3667599; 3722186; 3857213; 3857621; 3872140; 4319110; 5529814; 6183642; 6292910; 6320112; 6462220; 6689127; 7034958; 7499207; 7520724; 7679635; 7691343; 7852349; 7881420; 7945553; 7961597; 7982948; 8019571; 8094076; 8097422; 8100209; 8223589; 8339541; 8349697; 8349698; 8364588; 8456808; 8456809; 8468356; 8552450; 8669434; 8723681; 8786074; 8841196; 8900172; 8988177; 9016532; 9028946; 9067755; 9101290; 9101304; 9143923; 9169408; 9239397; 9280292; 9295288; 9443882; 9600458; 9639571; 9659899; 9675033; 9733643; 9878537; 10408781; 10446987; 10627137; 10739762; 10772928; 10778855; 11085801; 11090261; 11122085; 11136533; 11143996; 11173011; 11204438; 11230734; 11283002; 11303720; 11311202; 11316004; 11359786; 11368514; 11383910; 11420783; 11432962; 11508783; 11547828; 11547832; 11566920; 11668615; 11683425; 11685422; 11716195; 11731270; 11752017; 11792589; 11847210; 11856343; 11867580; 11874231; 11907712; 11973338; 12016463; 12016466; 12034531; 12034705; 12069607; 12072442; 12073153; 12096841; 12099690; 12101112; 12107666; 12127408; 12138160; 12149247; 12164934; 12180907; 12185380; 12200454; 12211646; 12232678; 12358155; 12393937; 12477932; 12491092; 12524166; 12575457; 12584032; 12590186; 12660034; 12735930; 12753258; 12787275; 12803121; 12810179; 12868700; 12879219; 14506618; 14528100; 14562991; 14595528; 14613485; 14633859; 14643521; 14672895; 14722584; 14734826; 14749390; 14976317; 15049048; 15081423; 15085313; 15095409; 15101818; 15106082; 15133851; 15211650; 15227656; 15241219; 15241796; 15256976; 15365990; 15466008; 15489334; 15514164; 15514891; 15552843; 15570400; 15581348; 15592793; 15638371; 15728585; 15781005; 15788405; 15794927; 15805113; 15880349; 15950180; 15952128; 15965952; 15966503; 15994869; 16001263; 16009674; 16102727; 16159929; 16171977; 16173077; 16263577; 16272059; 16278217; 16407265; 16410344; 16458627; 16475872; 16498072; 16521042; 16540720; 16580273; 16622736; 16705691; 16713399; 16723701; 16804049; 16815299; 16831952; 16835341; 16864092; 16869454; 16911569; 16934803; 16988190; 17019952; 17021946; 17028262; 17100549; 17118335; 17135298; 17140440; 17179726; 17187960; 17201588; 17211858; 17252541; 17273809; 17276428; 17303000; 17331078; 17332715; 17392686; 17460886; 17489845; 17551768; 17554369; 17557158; 17576241; 17698844; 17766609; 17875077; 17876648; 17889845; 17903305; 17950782; 17991736; 18024269; 18028452; 18069662; 18089612; 18226133; 18298657; 18306915; 18311573; 18323784; 18353721; 18361931; 18375391; 18379465; 18380967; 18401458; 18412368; 18536987; 18550494; 18551240; 18553566; 18580957; 18619040; 18634290; 18644377; 18669583; 18669982; 18670065; 18681778; 18682895; 18694864; 18703872; 18704262; 18709850; 18787532; 18818748; 18836165; 18925325; 18996919; 19016596; 19019335; 19031824; 19071236; 19082910; 19110771; 19143970; 19145934; 19172220; 19180518; 19193663; 19193665; 19206162; 19255718; 19259350; 19260140; 19299182; 19306436; 19322201; 19341834; 19358256; 19387081; 19418583; 19429913; 19453261; 19465003; 19491628; 19506792; 19527514; 19558215; 19595020; 19635106; 19655227; 19675556; 19714363; 19718407; 19734317; 19751715; 19789904; 19813243; 19861282; 19890351; 19893454; 19913121; 19913496; 19929435; 19932771; 20015871; 20045402; 20061935; 20063990; 20087402; 20133221; 20140262; 20146006; 20146870; 20181574; 20191437; 20235194; 20237151; 20301422; 20301472; 20359090; 20369485; 20379614; 20406730; 20435445; 20444423; 20452482; 20463013; 20489157; 20509788; 20532479; 20543003; 20571774; 20628086; 20651840; 20673868; 20693403; 20704113; 20721936; 20724381; 20730440; 20736093; 20798928; 20961463; 21029365; 21033393; 21042785; 21085489; 21095332; 21111450; 21113976; 21134900; 21139048; 21163673; 21178584; 21215393; 21302452; 21311138; 21336691; 21341209; 21343850; 21344539; 21405976; 21462477; 21535073; 21558934; 21564311; 21602843; 21647970; 21667357; 21702901; 21713451; 21746880; 21764694; 21777208; 21834035; 21935919; 21963094; 21970315; 22054507; 22057139; 22130917; 22139845; 22174012; 22190259; 22210296; 22219633; 22249249; 22297492; 22337942; 22367096; 22379029; 22422640; 22434650; 22479424; 22489040; 22565191; 22576977; 22645275; 22679784; 22694915; 22829018; 22855962; 22871215; 22939629; 22987783; 22990118; 23006423; 23013730; 23040566; 23068445; 23079818; 23137636; 23159876; 23199263; 23207290; 23276824; 23314748; 23338998; 23341452; 23344861; 23418565; 23418792; 23529829; 23546968; 23548228; 23592926; 23624467; 23639859; 23653354; 23692737; 23731614; 23763354; 23800666; 23906792; 23918805; 24170657; 24227918 collagen, type I, alpha 1 Ensembl:ENSG00000108821 HGNC:2197 HPRD:00362 MIM:120150 Vega:OTTHUMG00000148674 Other designations: alpha-1 type I collagen|collagen alpha 1 chain type I|collagen alpha-1(I) chain|collagen alpha-1(I) chain preproprotein|collagen of skin, tendon and bone, alpha-1 chain|pro-alpha-1 collagen type 1 COL1A1 Bin Zhao, Yue Liu, Oliver He OI4 WEB: http://www.ncbi.nlm.nih.gov/gene COL1A2 collagen, type I, alpha 2 1278 7q22.1 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0001501 (EC: IMP, PMID: 17955022); GO_0001568 (EC: IMP, PMID: 17211858); GO_0005201 (EC: NAS, PMID: 8982144); GO_0005515 (EC: IPI, PMID: 18375391); GO_0005576 (EC: TAS); GO_0005584 (EC: IDA, PMID: 18375391); GO_0005584 (EC: IMP, PMID: 17955022); GO_0005584 (EC: TAS, PMID: 6267597); GO_0005615 (EC: IDA, PMID: 18375391); GO_0005788 (EC: TAS); GO_0007179 (EC: IDA, PMID: 17217948); GO_0007266 (EC: IDA, PMID: 17217948); GO_0007596 (EC: TAS); GO_0008217 (EC: IMP, PMID: 17334644); GO_0022617 (EC: TAS); GO_0030168 (EC: TAS); GO_0030198 (EC: TAS); GO_0030199 (EC: IMP, PMID: 17211858); GO_0030574 (EC: TAS); GO_0030674 (EC: IMP, PMID: 18375391); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0042476 (EC: NAS, PMID: 1740554); GO_0042802 (EC: IDA, PMID: 17211858); GO_0043589 (EC: IMP, PMID: 17211858); GO_0046332 (EC: IEA); GO_0046872 (EC: IEA); GO_0048407 (EC: IDA, PMID: 8900172); GO_0050900 (EC: TAS); GO_0070062 (EC: IDA); GO_0070208 (EC: IEA); GO_0071230 (EC: IEA) PMID: 1284475; 1303238; 1339453; 1358799; 1362870; 1377218; 1385413; 1409674; 1468447; 1577745; 1642148; 1693626; 1711048; 1715582; 1730778; 1740554; 1874719; 1895312; 1939645; 1990009; 2010058; 2052622; 2064612; 2129528; 2156854; 2364107; 2375748; 2394758; 2454224; 2777764; 2824475; 2839839; 2897363; 2914942; 3372533; 3403536; 3421913; 3490481; 3680255; 3857213; 3872140; 4011429; 4412529; 5529814; 6087329; 6092353; 6267597; 6309769; 6321602; 6501291; 6687691; 7034958; 7346227; 7520724; 7688497; 7693712; 7720740; 7749416; 7852349; 7860070; 7881420; 7891382; 7906591; 7945553; 7959683; 8081394; 8094076; 8125298; 8182080; 8401517; 8444468; 8456807; 8456808; 8468356; 8552450; 8723681; 8800927; 8829649; 8829655; 8841196; 8889548; 8900172; 8982144; 9016532; 9028946; 9101290; 9239397; 9280292; 9295288; 9443882; 9675033; 9878537; 10329688; 10408781; 10627137; 10722718; 10734230; 10772928; 10778855; 11143996; 11311202; 11359786; 11668615; 11836364; 11867580; 11986307; 12034705; 12101112; 12160476; 12200454; 12393755; 12424255; 12477932; 12702564; 12759229; 12813128; 12879219; 12968017; 14555266; 14739420; 15077201; 15085313; 15149860; 15211650; 15241796; 15345715; 15365990; 15389632; 15489334; 15514164; 15516691; 15581348; 15599596; 15609325; 15741186; 15788405; 15818662; 15862967; 15917161; 15982862; 15983038; 16036621; 16091368; 16192463; 16278217; 16285730; 16289162; 16316921; 16463783; 16564026; 16702209; 16705691; 16816023; 16849317; 16864092; 17072841; 17142024; 17146610; 17211858; 17217948; 17334644; 17407139; 17459242; 17620151; 17653508; 17875077; 17884818; 17903307; 17955022; 18093617; 18284430; 18298657; 18323784; 18375391; 18434090; 18570923; 18644377; 18664619; 18791848; 18818748; 18996919; 19015742; 19035720; 19180518; 19208385; 19282863; 19289304; 19395477; 19424577; 19426706; 19491193; 19527514; 19559927; 19565505; 19578796; 19594296; 19679847; 19705750; 19714363; 19790048; 19913121; 19929435; 19932771; 20087402; 20102701; 20140262; 20301472; 20452482; 20463013; 20466318; 20628086; 20673868; 20721936; 20736093; 20837772; 20961463; 21044367; 21139048; 21163673; 21341209; 21344539; 21405976; 21443102; 21530898; 21602843; 21665180; 21667357; 21746880; 22028813; 22049076; 22130917; 22131293; 22379029; 22449649; 22610502; 22674299; 22773346; 22796342; 22815632; 22990118; 23036172; 23079621; 23227268; 23398456; 23546968; 23548243; 23692737; 23849651; 23918805 collagen, type I, alpha 2 Ensembl:ENSG00000164692 HGNC:2198 HPRD:00363 MIM:120160 Vega:OTTHUMG00000148675 Other designations: alpha 2(I)-collagen|alpha-2 type I collagen|collagen I, alpha-2 polypeptide|collagen alpha-2(I) chain|collagen of skin, tendon and bone, alpha-2 chain|type I procollagen COL1A2 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 1285 2q36-q37 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0005178 (EC: IDA, PMID: 12682293); GO_0005178 (EC: TAS, PMID: 10766752); GO_0005198 (EC: NAS, PMID: 3025878); GO_0005201 (EC: IEA); GO_0005515 (EC: IPI, PMID: 10212244); GO_0005576 (EC: TAS); GO_0005587 (EC: IDA, PMID: 10766752); GO_0005604 (EC: IDA, PMID: 10766752); GO_0005788 (EC: TAS); GO_0006919 (EC: IDA, PMID: 10766752); GO_0007155 (EC: IEA); GO_0007166 (EC: NAS, PMID: 10766752); GO_0007411 (EC: TAS); GO_0007605 (EC: TAS, PMID: 7987396); GO_0008015 (EC: TAS, PMID: 10766752); GO_0008191 (EC: NAS, PMID: 10766752); GO_0008283 (EC: IDA, PMID: 10766752); GO_0008285 (EC: TAS, PMID: 10837460); GO_0009749 (EC: IEA); GO_0010951 (EC: NAS, PMID: 10766752); GO_0016525 (EC: IDA, PMID: 10766752); GO_0022617 (EC: TAS); GO_0030198 (EC: TAS); GO_0030574 (EC: TAS); GO_0032836 (EC: ISS); GO_0072577 (EC: IDA, PMID: 10766752) PMID: 1377218; 1400291; 1724753; 1737849; 1882840; 2426947; 3025878; 3089234; 3997552; 6389236; 6811420; 6988303; 7495302; 7500359; 7758473; 7827955; 7987301; 7987396; 8006028; 8006044; 8016138; 8083201; 8294492; 8505332; 8889548; 8995276; 9136074; 9278443; 9409248; 9506531; 9537506; 9673377; 9878537; 10212244; 10382266; 10416788; 10766752; 10837460; 11134255; 11337467; 11683410; 11711546; 11867580; 11961012; 12028435; 12107413; 12180907; 12193605; 12225806; 12682293; 12768082; 12878203; 14507670; 14633133; 14676276; 14871398; 15199166; 15280517; 15492988; 15815621; 15880327; 15954103; 16235097; 16877525; 16895672; 16940319; 16953426; 17216251; 17294221; 17339318; 17370265; 17396119; 17426256; 17726307; 17942953; 18385178; 18436078; 18439107; 18499662; 18661361; 18772132; 18930919; 18941198; 19357112; 19688274; 19786737; 20029656; 20177710; 20201926; 20237496; 20301386; 20452482; 20664914; 20673868; 21143337; 21854504; 21942715; 22082156; 22118674; 22461538; 22473740; 22939955; 23085731; 23108892; 23291589; 23297803; 23319000; 23371956; 23515049; 23620401; 24052634 collagen, type IV, alpha 3 (Goodpasture antigen) Other designations: collagen IV, alpha-3 polypeptide|collagen alpha-3(IV) chain|tumstatin COL4A3 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene COL5A1 collagen, type V, alpha 1 1289 RP11-263F14.1 9q34.2-q34.3 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0001568 (EC: IEA); GO_0003007 (EC: IEA); GO_0005178 (EC: NAS, PMID: 14970208); GO_0005201 (EC: IEA); GO_0005576 (EC: TAS); GO_0005588 (EC: IMP, PMID: 9683580); GO_0005604 (EC: IEA); GO_0005788 (EC: TAS); GO_0007155 (EC: IMP, PMID: 18305566); GO_0007411 (EC: TAS); GO_0008201 (EC: IDA, PMID: 2203476); GO_0016477 (EC: IMP, PMID: 18305566); GO_0022617 (EC: TAS); GO_0030198 (EC: TAS); GO_0030199 (EC: IMP, PMID: 11278977); GO_0030199 (EC: NAS, PMID: 16430677); GO_0030574 (EC: TAS); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0031012 (EC: IMP, PMID: 14970208); GO_0032964 (EC: IMP, PMID: 11278977); GO_0035313 (EC: IMP, PMID: 18305566); GO_0035989 (EC: IEA); GO_0043206 (EC: IMP, PMID: 14970208); GO_0043394 (EC: IPI, PMID: 9099729); GO_0043588 (EC: IMP, PMID: 9683580); GO_0045112 (EC: IMP, PMID: 18305566); GO_0046872 (EC: IEA); GO_0048407 (EC: IDA, PMID: 8900172); GO_0048592 (EC: IMP, PMID: 16431952); GO_0051128 (EC: IEA) PMID: 1571108; 1572660; 1722213; 1937076; 2071595; 2203476; 2446864; 2496661; 2745554; 3571333; 6501291; 6693501; 7346227; 7646438; 8181482; 8440685; 8575750; 8900172; 9042913; 9099729; 9501082; 9582436; 9683580; 9840442; 10602121; 10722718; 10796876; 11278977; 11741999; 11751872; 12145749; 12477932; 12847218; 14504037; 14702039; 14970208; 15095409; 15136578; 15146197; 15164053; 16430677; 16431952; 16712791; 17407447; 17965778; 18305566; 18353721; 18443036; 18487259; 18818748; 18854154; 18972565; 19019335; 19042922; 19180518; 19422640; 19426620; 19527514; 19632402; 19654427; 19696512; 19913121; 19956930; 20140262; 20301422; 20359947; 20452482; 20456365; 20543949; 20625483; 20628086; 20635400; 20673868; 20719862; 20798666; 20834067; 20847697; 20979576; 21098505; 21139048; 21215393; 21328072; 21362053; 21467034; 21541907; 21609763; 21611149; 21697718; 21906983; 21934170; 22132895; 22149965; 22208904; 22437311; 22586326; 22696272; 22762739; 22814818; 23060441; 23291589; 23347277; 23493294; 23513063; 23587214; 23624467; 23665963 collagen, type V, alpha 1 Other designations: collagen alpha-1(V) chain COL5A1 Bin Zhao, Yue Liu, Oliver He OPLL WEB: http://www.ncbi.nlm.nih.gov/gene COL6A1 collagen, type VI, alpha 1 1291 21q22.3 20140408 9606 21 protein-coding Official from a nomenclature committee GO_0005576 (EC: IDA, PMID: 18400749); GO_0005576 (EC: TAS); GO_0005589 (EC: NAS, PMID: 2551668); GO_0005765 (EC: IDA, PMID: 17897319); GO_0005788 (EC: TAS); GO_0007155 (EC: IEA); GO_0007411 (EC: TAS); GO_0022617 (EC: TAS); GO_0030198 (EC: TAS); GO_0030574 (EC: TAS); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0031012 (EC: ISS, Qualifier: colocalizes_with); GO_0042383 (EC: IEA); GO_0043234 (EC: IPI, PMID: 18400749); GO_0048407 (EC: IDA, PMID: 8900172); GO_0070062 (EC: IDA, PMID: 19056867); GO_0070208 (EC: IPI, PMID: 18400749); GO_0071230 (EC: IEA) PMID: 1544908; 1765372; 2446864; 2551668; 3198591; 3348212; 3665927; 6852033; 8168508; 8536701; 8618682; 8782832; 8889548; 8900172; 9107679; 9334230; 9501082; 9580662; 10407855; 10830953; 11337467; 11865138; 11932968; 11973338; 12011280; 12374585; 12477932; 12736748; 12840783; 12958705; 14981181; 15146197; 15489334; 15563506; 16130093; 16141002; 16227896; 16434404; 17170699; 17334655; 17537636; 17602442; 17897319; 18246005; 18366090; 18378883; 18400749; 18551403; 18634150; 18825676; 19056867; 19204726; 19309692; 20301468; 20301676; 20721706; 20976770; 21037586; 21139048; 21900206; 21906983; 21942715; 22012643; 22268729; 22583932; 23013106; 23221806; 24271325 collagen, type VI, alpha 1 Ensembl:ENSG00000142156 HGNC:2211 HPRD:00370 MIM:120220 Vega:OTTHUMG00000090440 Other designations: alpha 1 (VI) chain (61 AA)|collagen VI, alpha-1 polypeptide|collagen alpha-1(VI) chain COL6A1 Bin Zhao, Yue Liu, Oliver He 447AA WEB: http://www.ncbi.nlm.nih.gov/gene COL16A1 collagen, type XVI, alpha 1 1307 FP1572 1p35-p34 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005178 (EC: IDA, PMID: 16754661); GO_0005515 (EC: IPI, PMID: 15165854); GO_0005576 (EC: TAS); GO_0005597 (EC: TAS, PMID: 1284248); GO_0005788 (EC: TAS); GO_0007155 (EC: IDA, PMID: 16754661); GO_0007229 (EC: TAS, PMID: 16754661); GO_0007565 (EC: TAS, PMID: 1284248); GO_0022617 (EC: TAS); GO_0030198 (EC: TAS); GO_0030574 (EC: TAS); GO_0071230 (EC: IEA) PMID: 1284248; 1631157; 7836360; 7882999; 9022684; 12477932; 12782140; 15165854; 16710414; 16754661; 17549794; 18804107; 19913121; 19931388; 20628086; 21251976; 22716248; 23149016 collagen, type XVI, alpha 1 Ensembl:ENSG00000084636 HGNC:2193 HPRD:00381 MIM:120326 Vega:OTTHUMG00000003883 Other designations: alpha 1 type XVI collagen|collagen XVI, alpha-1 polypeptide|collagen alpha-1(XVI) chain COL16A1 Bin Zhao, Yue Liu, Oliver He MC-CPA WEB: http://www.ncbi.nlm.nih.gov/gene CPA3 carboxypeptidase A3 (mast cell) 1359 3q24 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0002003 (EC: TAS); GO_0004181 (EC: NAS, PMID: 2594780); GO_0004181 (EC: TAS, PMID: 1629626); GO_0005576 (EC: TAS); GO_0006508 (EC: TAS, PMID: 2708524); GO_0008270 (EC: IEA); GO_0030133 (EC: IEA); GO_0030141 (EC: NAS, PMID: 2594780); GO_0044267 (EC: TAS) PMID: 1629626; 1729276; 2443571; 2594780; 2708524; 2920728; 7929294; 10383164; 12477932; 14760754; 15489334; 18029348; 19643669 carboxypeptidase A3 (mast cell) Ensembl:ENSG00000163751 HGNC:2298 HPRD:00270 MIM:114851 Vega:OTTHUMG00000159526 Other designations: mast cell carboxypeptidase A|tissue carboxypeptidase A CPA3 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene CPE carboxypeptidase E 1363 4q32.3 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0003214 (EC: IMP, PMID: 19593212); GO_0004180 (EC: TAS, PMID: 9019408); GO_0004181 (EC: IEA); GO_0005576 (EC: IEA); GO_0005634 (EC: IEA); GO_0005794 (EC: IDA, PMID: 19166515); GO_0005886 (EC: TAS, PMID: 9019408); GO_0006464 (EC: NAS, PMID: 2334405); GO_0007218 (EC: NAS, PMID: 2334405); GO_0008152 (EC: TAS, PMID: 7663508); GO_0008270 (EC: IEA); GO_0030070 (EC: IEA); GO_0030658 (EC: IEA); GO_0030667 (EC: TAS); GO_0042043 (EC: IPI, PMID: 19166515); GO_0044267 (EC: TAS); GO_0050839 (EC: IPI, PMID: 19166515); GO_0072657 (EC: IDA, PMID: 19166515) PMID: 2334405; 6808517; 7477119; 7663508; 7790890; 8449522; 8674818; 8770919; 8864828; 9019408; 9197538; 9275097; 9369230; 9662053; 9815277; 10966857; 11373325; 11375130; 11462236; 12270926; 12417617; 12477932; 12479974; 12530526; 14690244; 14702039; 15489334; 15492986; 15664176; 16169070; 17957445; 18080843; 18501121; 18550819; 19077438; 19120309; 19166515; 19491387; 19593212; 19913121; 20201924; 20368287; 20379614; 20468064; 20628086; 21061162; 21285511; 21628999; 21906983; 22824791; 22998035; 23852859 carboxypeptidase E Other designations: CPH|carboxypeptidase H|cobalt-stimulated chromaffin granule carboxypeptidase|enkephalin convertase|insulin granule-associated carboxypeptidase|prohormone-processing carboxypeptidase CPE Bin Zhao, Yue Liu, Oliver He C7orf1 CPE-R2 CPETR2 HRVP1 RVP1 WEB: http://www.ncbi.nlm.nih.gov/gene CLDN3 claudin 3 1365 7q11.23 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0001666 (EC: IEP, PMID: 15174142); GO_0004888 (EC: TAS, PMID: 9334247); GO_0005198 (EC: IEA); GO_0005887 (EC: TAS, PMID: 9334247); GO_0005923 (EC: IEA); GO_0007165 (EC: TAS, PMID: 9334247); GO_0016021 (EC: TAS, PMID: 9441748); GO_0016338 (EC: IEA); GO_0042802 (EC: IEA) PMID: 9334247; 9441748; 9892664; 10562289; 10601346; 10690502; 11247307; 11283726; 11382769; 11691807; 12231346; 12475568; 12477932; 12736707; 12853948; 12909588; 15070779; 15174142; 15240533; 15489334; 15743508; 15905176; 16169070; 16253248; 16287068; 16341674; 16627685; 17103306; 17326053; 17418912; 17459057; 17545541; 17647191; 17986852; 18036336; 18251778; 18313739; 18329007; 18384777; 18439941; 18477216; 18538010; 18550469; 18774778; 18817843; 19082451; 19137073; 19184060; 19208807; 19231096; 19429681; 19460752; 19525861; 19706201; 19924644; 20053926; 20143085; 20204275; 20466674; 20478039; 20655293; 21139048; 21184237; 21519794; 21832049; 22087225; 22128179; 22290341; 23053666; 23075682; 23097631; 23909989 claudin 3 Ensembl:ENSG00000165215 HGNC:2045 HPRD:04219 MIM:602910 Vega:OTTHUMG00000023424 Other designations: CPE-R 2|CPE-receptor 2|Clostridium perfringens enterotoxin receptor 2|claudin-3|ventral prostate.1 protein homolog|ventral prostate.1-like protein CLDN3 Bin Zhao, Yue Liu, Oliver He C3DR CD21 CR CVID7 SLEB9 WEB: http://www.ncbi.nlm.nih.gov/gene CR2 complement component (3d/Epstein Barr virus) receptor 2 1380 RP11-78B10.1 1q32 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001848 (EC: IDA, PMID: 11034390); GO_0003677 (EC: IDA); GO_0004875 (EC: NAS, PMID: 2827171); GO_0004888 (EC: NAS, PMID: 2827171); GO_0005886 (EC: NAS, PMID: 2563370); GO_0006955 (EC: NAS, PMID: 2827171); GO_0006958 (EC: IEA); GO_0009897 (EC: IEA); GO_0016021 (EC: NAS, PMID: 2827171); GO_0030183 (EC: IDA, PMID: 2995485); GO_0042100 (EC: IDA, PMID: 2995485); GO_0042803 (EC: IDA, PMID: 11728339); GO_0043235 (EC: IDA); GO_0045087 (EC: IEA); GO_0070062 (EC: IDA) PMID: 181330; 1323059; 1383329; 1424280; 1702139; 1708808; 1830068; 1831222; 1849076; 2161885; 2528587; 2563370; 2565927; 2827171; 2832506; 2995485; 3016712; 3782802; 7515913; 7690834; 7753047; 7780154; 8125298; 8390533; 8474169; 8766552; 8996252; 9796912; 9804823; 10068037; 11034390; 11387479; 11466369; 11684127; 11698449; 11728339; 11739509; 11813981; 11981823; 12122212; 12149502; 12444129; 12477932; 12546713; 12713795; 12813023; 14607925; 14635039; 15138285; 15187133; 15603708; 15713467; 15713468; 15795251; 15905540; 16289966; 16344560; 16375923; 16740600; 16785534; 16803874; 16806233; 16920989; 16987062; 17118449; 17301948; 17360460; 17881405; 18174230; 18500464; 18568448; 18713965; 18804116; 18842294; 18976975; 19017934; 19164292; 19187965; 19193442; 19344414; 19359041; 19360456; 19387458; 19487031; 19524299; 19666505; 19740327; 20083651; 20091675; 20237496; 20301476; 20558730; 20951140; 21052675; 21106852; 21161615; 21269698; 21328056; 21490949; 21527715; 21889131; 22084433; 22137275; 22673213; 22678901; 22885687; 22899340; 23002439; 23279883; 23384704; 23612877 complement component (3d/Epstein Barr virus) receptor 2 Ensembl:ENSG00000117322 HGNC:2336 HPRD:00399 MIM:120650 Vega:OTTHUMG00000036307 Other designations: EBV receptor|complement C3d receptor|complement receptor type 2|epstein-Barr virus receptor CR2 Bin Zhao, Yue Liu, Oliver He CMD1II CRYA2 CTPP2 CTRCT16 HEL-S-101 HSPB5 MFM2 WEB: http://www.ncbi.nlm.nih.gov/gene CRYAB crystallin, alpha B 1410 11q22.3-q23.1 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0001666 (EC: IEA); GO_0002088 (EC: IEA); GO_0005212 (EC: IEA); GO_0005515 (EC: IPI, PMID: 11700327); GO_0005634 (EC: IDA, PMID: 19464326); GO_0005737 (EC: IDA); GO_0005739 (EC: IEA); GO_0005794 (EC: IEA); GO_0005829 (EC: IEA); GO_0005886 (EC: IEA); GO_0006006 (EC: IEA); GO_0006457 (EC: IEA); GO_0006936 (EC: TAS, PMID: 9731540); GO_0007021 (EC: IEA); GO_0007517 (EC: IEA); GO_0007568 (EC: IEA); GO_0008017 (EC: IEA); GO_0009986 (EC: IEA); GO_0010629 (EC: IEA); GO_0010941 (EC: IMP); GO_0015630 (EC: IEA); GO_0030018 (EC: IEA); GO_0030308 (EC: IEA); GO_0031109 (EC: IEA); GO_0032355 (EC: IEA); GO_0032387 (EC: IDA, PMID: 14752512); GO_0032432 (EC: IEA); GO_0042542 (EC: IEA); GO_0042802 (EC: IPI, PMID: 12601044); GO_0042803 (EC: IPI, PMID: 19646995); GO_0043066 (EC: IDA, PMID: 14752512); GO_0043154 (EC: IEA); GO_0046872 (EC: IEA); GO_0051082 (EC: IPI, PMID: 16303126); GO_0051260 (EC: IDA, PMID: 16303126); GO_0051403 (EC: IEA); GO_0060561 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867); GO_0071480 (EC: IMP); GO_2000378 (EC: IEA) PMID: 838078; 1407707; 1525182; 1560006; 2294148; 2387586; 2539261; 2591958; 7498159; 8142454; 8175657; 8431633; 8619474; 8639509; 8999933; 9110174; 9731540; 10217480; 10508479; 10625651; 10751411; 10930324; 10995559; 11024455; 11076863; 11158243; 11256614; 11341940; 11369851; 11377425; 11577372; 11700327; 11771659; 11926998; 12060738; 12095619; 12140279; 12468532; 12477932; 12501218; 12600716; 12601044; 12601813; 12646227; 12812987; 12837281; 12940843; 12965253; 14523008; 14532291; 14610128; 14676215; 14681890; 14743435; 14752512; 15004872; 15117944; 15168732; 15188402; 15236975; 15247152; 15284238; 15308659; 15339919; 15382236; 15388868; 15489334; 15489336; 15511225; 15609325; 15639800; 15653686; 15817465; 15952936; 16049941; 16053447; 16142923; 16225851; 16274233; 16303126; 16368544; 16381901; 16395408; 16480679; 16483541; 16505043; 16581320; 16751613; 16760894; 16764341; 16817325; 16877416; 16893188; 17010329; 17022999; 17046756; 17056255; 17075130; 17081987; 17105203; 17258947; 17260942; 17387692; 17487982; 17551579; 17568699; 17590381; 17601350; 17655279; 17662998; 17693254; 17723105; 17909943; 17916631; 17940610; 17968656; 18004741; 18005258; 18061943; 18063749; 18095658; 18162431; 18164413; 18230612; 18334940; 18343237; 18343407; 18401461; 18543331; 18552382; 18604737; 18639655; 18669646; 18685083; 18692065; 18712293; 18810322; 18854154; 18941542; 18974385; 18977241; 18992912; 19041879; 19056867; 19116904; 19140694; 19205872; 19238749; 19272359; 19282282; 19343786; 19401464; 19451620; 19461931; 19464326; 19498098; 19558454; 19597569; 19616115; 19646995; 19651604; 19680556; 19777343; 19799611; 20067552; 20104255; 20141356; 20197038; 20301672; 20378664; 20381070; 20535031; 20587334; 20668689; 20802487; 20804537; 20841355; 20863832; 21087083; 21139048; 21152271; 21173272; 21224997; 21357544; 21423662; 21423869; 21464278; 21768101; 21866213; 21884203; 21905118; 21915251; 21920752; 21961594; 21980040; 21984182; 21988832; 22090033; 22096479; 22143763; 22158051; 22210387; 22272318; 22427585; 22463677; 22537749; 22655036; 22815750; 22877753; 22972503; 22982407; 22993064; 23000965; 23005341; 23049853; 23055712; 23074197; 23077034; 23159935; 23188086; 23194663; 23225306; 23231769; 23316005; 23340341; 23508955; 23532854; 23645685; 23818860; 24023305; 24072698; 24275510; 24307592 crystallin, alpha B Ensembl:ENSG00000109846 HGNC:2389 HPRD:00428 MIM:123590 Vega:OTTHUMG00000166885 Other designations: alpha-crystallin B chain|epididymis secretory protein Li 101|heat shock protein beta-5|heat-shock 20 kD like-protein|renal carcinoma antigen NY-REN-27|rosenthal fiber component CRYAB Bin Zhao, Yue Liu, Oliver He CSF-1 MCSF WEB: http://www.ncbi.nlm.nih.gov/gene CSF1 colony stimulating factor 1 (macrophage) 1435 RP11-195M16.2 1p13.3 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001503 (EC: IEA); GO_0001954 (EC: ISS, PMID: 18566389); GO_0002158 (EC: IEA); GO_0003006 (EC: ISS, PMID: 19017797); GO_0005125 (EC: IDA, PMID: 10652277); GO_0005157 (EC: ISS, PMID: 19017797); GO_0005157 (EC: TAS, PMID: 2460758); GO_0005615 (EC: IDA, PMID: 2460758); GO_0005886 (EC: IEA); GO_0006954 (EC: IEA); GO_0008083 (EC: IDA, PMID: 2460758); GO_0008083 (EC: NAS, PMID: 1791839); GO_0008283 (EC: NAS, PMID: 1791839); GO_0008284 (EC: IDA, PMID: 10652277); GO_0008284 (EC: TAS, PMID: 2460758); GO_0010628 (EC: IDA, PMID: 10666185); GO_0010743 (EC: NAS, PMID: 18566389); GO_0010744 (EC: IDA, PMID: 17244792); GO_0016020 (EC: NAS, PMID: 2460758); GO_0016021 (EC: IEA); GO_0030097 (EC: NAS, PMID: 1791839); GO_0030154 (EC: NAS, PMID: 1791839); GO_0030225 (EC: TAS, PMID: 2460758); GO_0030278 (EC: IEA); GO_0030316 (EC: IDA, PMID: 18606301); GO_0030335 (EC: ISS, PMID: 18566389); GO_0032270 (EC: IDA, PMID: 1739124); GO_0032946 (EC: IDA, PMID: 2460758); GO_0040018 (EC: IEA); GO_0042117 (EC: NAS, PMID: 18566389); GO_0042476 (EC: IEA); GO_0042488 (EC: IEA); GO_0042803 (EC: IDA, PMID: 3264878); GO_0043235 (EC: ISS, PMID: 19017797); GO_0045087 (EC: IEA); GO_0045651 (EC: IDA, PMID: 2460758); GO_0045657 (EC: ISS, PMID: 18566389); GO_0045672 (EC: IDA, PMID: 15304486); GO_0045860 (EC: ISS, PMID: 18566389); GO_0046579 (EC: IEA); GO_0048471 (EC: IDA, PMID: 1739124); GO_0048873 (EC: IEA); GO_0060444 (EC: IEA); GO_0060611 (EC: IEA); GO_0060763 (EC: IEA) PMID: 1334406; 1455231; 1531650; 1540160; 1571567; 1733926; 1739124; 1791839; 2145044; 2408759; 2460758; 2660794; 2996129; 3039346; 3259875; 3264877; 3264878; 3493529; 3498652; 3500041; 7696959; 8086034; 8262907; 8336080; 8355686; 8422357; 8804363; 8981357; 9131001; 9147389; 9632647; 10652277; 10666185; 10857771; 11248655; 11297560; 11369790; 11387343; 11739737; 11792569; 11843897; 12032835; 12372416; 12393446; 12411027; 12456016; 12477932; 12501178; 12548211; 12684699; 12749918; 12790839; 12865350; 12890905; 12894871; 12928417; 12929928; 14605992; 14634568; 14654075; 15001836; 15116247; 15256272; 15261158; 15304486; 15358207; 15489334; 15494511; 15576295; 15624698; 15640942; 15728521; 15780937; 15820145; 15866728; 15919699; 15944252; 16204228; 16267391; 16318581; 16320327; 16344560; 16407111; 16673212; 16844084; 16859503; 16951369; 17108334; 17192722; 17243911; 17244792; 17353186; 17355643; 17368603; 17420255; 17431224; 17443671; 17516513; 17532041; 17589498; 17907802; 17916748; 17918257; 17922812; 17967422; 18219369; 18322228; 18435789; 18467591; 18510570; 18566389; 18606301; 18619508; 18632616; 18668547; 18676750; 18708368; 18718581; 18724005; 18751872; 18852899; 18996518; 19004987; 19008293; 19017797; 19196448; 19432671; 19443701; 19453261; 19561083; 19641137; 19711348; 19913121; 19926892; 19950360; 20237496; 20436471; 20452482; 20455868; 20485444; 20504948; 20628086; 20628624; 20673868; 20839008; 20839921; 20869948; 20925194; 21239715; 21481374; 21623375; 21717212; 21791433; 21854753; 21895511; 21938481; 21945122; 22028782; 22052465; 22082370; 22186992; 22365076; 22678116; 23061794; 23233531; 23251661; 23260168; 23285029; 23471483; 23520016; 23684409; 23688065; 23834954; 23924854; 24157873 colony stimulating factor 1 (macrophage) Ensembl:ENSG00000184371 HGNC:2432 HPRD:00388 MIM:120420 Vega:OTTHUMG00000011646 Other designations: lanimostim|macrophage colony-stimulating factor 1 CSF1 Bin Zhao, Yue Liu, Oliver He C-FMS CD115 CSF-1R CSFR FIM2 FMS HDLS M-CSF-R WEB: http://www.ncbi.nlm.nih.gov/gene CSF1R colony stimulating factor 1 receptor 1436 5q32 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0001934 (EC: IMP); GO_0005011 (EC: IMP); GO_0005524 (EC: IEA); GO_0005886 (EC: TAS, PMID: 2421165); GO_0005887 (EC: TAS, PMID: 2421165); GO_0006954 (EC: TAS, PMID: 19132917); GO_0007165 (EC: TAS, PMID: 8981357); GO_0007169 (EC: ISS); GO_0007275 (EC: TAS, PMID: 8981357); GO_0008283 (EC: IMP, PMID: 7683918); GO_0008284 (EC: IMP, PMID: 15117969); GO_0008360 (EC: IMP, PMID: 15117969); GO_0009986 (EC: ISS); GO_0018108 (EC: IDA); GO_0019221 (EC: IMP); GO_0019903 (EC: IEA); GO_0019955 (EC: IDA); GO_0019955 (EC: ISS, PMID: 19017797); GO_0030097 (EC: IMP, PMID: 7683918); GO_0030224 (EC: TAS, PMID: 19132917); GO_0030225 (EC: TAS, PMID: 19132917); GO_0030316 (EC: ISS); GO_0030335 (EC: ISS); GO_0031529 (EC: ISS); GO_0036006 (EC: IMP); GO_0038145 (EC: IMP); GO_0038145 (EC: TAS, PMID: 8981357); GO_0042517 (EC: ISS); GO_0042803 (EC: ISS, PMID: 19017797); GO_0043235 (EC: ISS, PMID: 19017797); GO_0045087 (EC: IEA); GO_0045124 (EC: ISS); GO_0045217 (EC: IMP, PMID: 15117969); GO_0046488 (EC: ISS); GO_0046777 (EC: IDA); GO_0048015 (EC: ISS); GO_0060603 (EC: TAS, PMID: 15117969); GO_0061098 (EC: IMP, PMID: 7681396); GO_0070374 (EC: ISS); GO_0071345 (EC: ISS); GO_0071902 (EC: ISS); GO_0090197 (EC: IMP); GO_2000147 (EC: IMP, PMID: 15117969); GO_2000249 (EC: ISS) PMID: 1334406; 1611909; 1829836; 1833648; 2172781; 2406720; 2408759; 2421165; 2524025; 2524648; 2846185; 2978516; 2986142; 3022923; 3484837; 3525854; 3532121; 3974576; 4028159; 7520523; 7636265; 7681396; 7683918; 7782294; 8001978; 8262059; 8355686; 8786123; 8922060; 8947469; 8981357; 9027509; 9178909; 9191055; 9380408; 9616179; 9624537; 9857184; 10022833; 10025673; 10499626; 10597251; 10648820; 11297560; 11847211; 11850825; 11852791; 11891846; 12031912; 12130514; 12133942; 12372416; 12381783; 12477932; 12485477; 12529666; 12773394; 14654075; 14738146; 15117969; 15144560; 15203218; 15297464; 15626739; 15735664; 16034075; 16170366; 16335952; 16341674; 16344560; 16600665; 16631474; 16648572; 16708222; 16823860; 17292918; 17360941; 17420255; 17512498; 17675037; 17880962; 17893228; 17960171; 17981568; 18294963; 18510570; 18565574; 18593464; 18676680; 18788612; 18814279; 18971950; 18997822; 19017797; 19132917; 19151756; 19170196; 19321746; 19351817; 19375163; 19377443; 19453261; 19585521; 19625176; 19692168; 19762488; 20098615; 20181277; 20379614; 20504948; 20574656; 20974809; 21041311; 21049007; 21063905; 21466808; 21567396; 21880693; 21890473; 22052465; 22084313; 22096574; 22153499; 22186992; 22197934; 22365076; 22375015; 22407921; 22934315; 22939624; 22955918; 23038421; 23052599; 23116709; 23392676; 23398456; 23408870; 23418320; 23649896; 23744080; 23816250; 24120500; 24336230 colony stimulating factor 1 receptor Ensembl:ENSG00000182578 HGNC:2433 HPRD:01269 MIM:164770 Vega:OTTHUMG00000130050 Other designations: CD115 antigen|CSF-1 receptor|FMS proto-oncogene|McDonough feline sarcoma viral (v-fms) oncogene homolog|macrophage colony stimulating factor I receptor|macrophage colony-stimulating factor 1 receptor|proto-oncogene c-Fms CSF1R Bin Zhao, Yue Liu, Oliver He CD116 CDw116 CSF2R CSF2RAX CSF2RAY CSF2RX CSF2RY GM-CSF-R-alpha GMCSFR GMR SMDP4 WEB: http://www.ncbi.nlm.nih.gov/gene CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 1438 Xp22.32 and Yp11.3 20140408 9606 X|Y protein-coding Official from a nomenclature committee GO_0004872 (EC: TAS, PMID: 1358805); GO_0004896 (EC: IEA); GO_0005576 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 2555171) PMID: 1358805; 1702217; 1715577; 1832774; 1972780; 2148207; 2555171; 2828352; 7945472; 7957082; 7994031; 8086503; 8144676; 8547489; 8910448; 8943427; 9028317; 9211889; 9446667; 9625584; 9685210; 9723668; 10477722; 10572088; 10584986; 10734053; 11169747; 11238105; 12384414; 12393492; 12421947; 12477932; 12504125; 12538575; 12604332; 12637324; 12670335; 12759409; 14504109; 14614142; 15489334; 16760463; 17474147; 17522711; 17681666; 18236400; 18547720; 18678938; 18692472; 18955567; 18955570; 19099633; 19281803; 20078425; 21056082; 21557945; 22430742; 22935703; 23933508 colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) Ensembl:ENSG00000198223 HGNC:2435 HPRD:02381 MIM:306250 MIM:425000 Vega:OTTHUMG00000012533 Other designations: CD116 antigen|GM-CSF receptor alpha subunit|GMCSFR-alpha|GMR-alpha|colony stimulating factor 2 receptor alpha subunit|granulocyte-macrophage colony-stimulating factor receptor alpha chain|granulocyte-macrophage colony-stimulating factor receptor subunit alpha CSF2RA Bin Zhao, Yue Liu, Oliver He CD114 GCSFR WEB: http://www.ncbi.nlm.nih.gov/gene CSF3R colony stimulating factor 3 receptor (granulocyte) 1441 1p35-p34.3 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0004872 (EC: TAS, PMID: 7542747); GO_0004896 (EC: IEA); GO_0005515 (EC: IPI, PMID: 17363902); GO_0005576 (EC: IEA); GO_0005887 (EC: TAS, PMID: 7542747); GO_0006952 (EC: TAS, PMID: 7542747); GO_0007155 (EC: IEA); GO_0007165 (EC: NAS, PMID: 1371413); GO_0030593 (EC: IEA); GO_0042475 (EC: IEA) PMID: 1371413; 1530796; 1701053; 1717255; 1833306; 2147944; 2480598; 7512720; 7514305; 7542747; 7682568; 7775438; 8197119; 8554326; 8664280; 8708536; 8855939; 8889548; 9187659; 9368043; 9790917; 9824671; 9864141; 10364174; 10729720; 10837195; 11468284; 11714811; 11911419; 11920194; 12012328; 12100165; 12133942; 12422946; 12477932; 12586631; 12660437; 14557262; 14587040; 14737106; 14751388; 14992583; 15123426; 15370243; 15470047; 15489334; 15644419; 16033816; 16344560; 16492764; 16493051; 16985178; 17001306; 17024119; 17047971; 17187068; 17363902; 17494858; 17572226; 17703412; 18536571; 18923646; 19099633; 19258923; 19453261; 19453968; 19620628; 19794089; 19833857; 20237318; 20471446; 20503287; 20557950; 20654748; 20696205; 20819538; 21129254; 21155715; 21641233; 22146088; 22796466; 23159284; 23508011; 23656643; 23687340; 23774674; 23820376; 23897249; 24081659 colony stimulating factor 3 receptor (granulocyte) Ensembl:ENSG00000119535 HGNC:2439 HPRD:00737 MIM:138971 Vega:OTTHUMG00000008010 Other designations: CD114 antigen|G-CSF receptor|G-CSF-R|granulocyte colony-stimulating factor receptor CSF3R Bin Zhao, Yue Liu, Oliver He CSPG2 ERVR GHAP PG-M WGN WGN1 WEB: http://www.ncbi.nlm.nih.gov/gene VCAN versican 1462 5q14.3 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0005509 (EC: IEA); GO_0005515 (EC: IPI); GO_0005539 (EC: TAS, PMID: 7528742); GO_0005540 (EC: IEA); GO_0005576 (EC: TAS); GO_0005578 (EC: IEA); GO_0005615 (EC: IDA); GO_0005796 (EC: TAS); GO_0005975 (EC: TAS); GO_0007155 (EC: IEA); GO_0007275 (EC: TAS, PMID: 2583089); GO_0007507 (EC: IEA); GO_0008037 (EC: TAS, PMID: 2583089); GO_0008347 (EC: IDA, PMID: 18431253); GO_0030198 (EC: TAS); GO_0030203 (EC: TAS); GO_0030204 (EC: TAS); GO_0030206 (EC: TAS); GO_0030207 (EC: TAS); GO_0030208 (EC: TAS); GO_0030246 (EC: IEA); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0031012 (EC: ISS, Qualifier: colocalizes_with); GO_0043202 (EC: TAS); GO_0043231 (EC: IDA); GO_0044281 (EC: TAS) PMID: 1429726; 1478664; 2466833; 2469524; 2583089; 2820964; 7528742; 7566098; 7748141; 7806529; 7876137; 7921538; 8601689; 8627343; 8824283; 9294172; 9848887; 10198161; 10397680; 10400671; 10571340; 10950950; 11038354; 11083865; 11278559; 11566024; 11726670; 11805102; 11839575; 11932252; 12221092; 12438652; 12477932; 12553048; 12888576; 12907688; 12972299; 14558097; 14724283; 15073129; 15142969; 15146197; 15336555; 15342556; 15522894; 15590670; 15599946; 15712181; 15748997; 15871917; 16043844; 16110303; 16311904; 16344560; 16431924; 16493581; 16636652; 16648628; 16839865; 16877430; 16917090; 17065588; 17097211; 17213182; 17363913; 17453002; 17728259; 18431253; 18484070; 18621549; 18704747; 18819099; 19073385; 19160015; 19269971; 19506372; 19655167; 19662655; 19669783; 19700613; 19717812; 19901218; 20053631; 20201926; 20204274; 20301747; 20379614; 20452482; 20489207; 20516156; 20619446; 20673868; 20729814; 21063030; 21078678; 21136024; 21185131; 21185747; 21244575; 21505857; 21546273; 21596823; 21738396; 21791066; 21828051; 21906983; 22096483; 22155153; 22318369; 22360420; 22393310; 22406535; 22493503; 22739342; 22951719; 23002209; 23024773; 23099107; 23180826; 23201264; 23424670; 23568740; 23571384; 23963449; 24174867 versican Ensembl:ENSG00000038427 HGNC:2464 HPRD:00340 MIM:118661 Vega:OTTHUMG00000131321 Other designations: chondroitin sulfate proteoglycan 2|chondroitin sulfate proteoglycan core protein 2|glial hyaluronate-binding protein|large fibroblast proteoglycan|versican core protein|versican proteoglycan VCAN Bin Zhao, Yue Liu, Oliver He ARMD11 WEB: http://www.ncbi.nlm.nih.gov/gene CST3 cystatin C 1471 20p11.21 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0001540 (EC: IPI, PMID: 18026102); GO_0002020 (EC: IPI, PMID: 6203523); GO_0004866 (EC: IDA, PMID: 15127951); GO_0004869 (EC: IDA, PMID: 6203523); GO_0005515 (EC: IPI, PMID: 15127951); GO_0005576 (EC: IMP, PMID: 18026102); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 18613859); GO_0006952 (EC: IDA, PMID: 6203523); GO_0010466 (EC: IDA, PMID: 6203523); GO_0010703 (EC: IC, PMID: 7890620); GO_0010711 (EC: IEP, PMID: 10545518); GO_0010716 (EC: IEP, PMID: 10545518); GO_0010951 (EC: IDA, PMID: 15127951); GO_0034103 (EC: IEP, PMID: 10545518); GO_0043206 (EC: IGI, PMID: 18026102); GO_0060311 (EC: IMP, PMID: 10545518); GO_0060313 (EC: IEP, PMID: 10545518); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 1352269; 1731767; 1996959; 2013314; 2304899; 2363674; 2541223; 2567273; 2689007; 2764935; 2900981; 3495457; 3517880; 6203523; 6283552; 6365094; 6662498; 7890620; 8083219; 8179826; 8486384; 10428479; 10545518; 10993992; 11074789; 11115496; 11276250; 11468325; 11681790; 11711204; 11750287; 11780052; 11815350; 11865157; 12038606; 12101112; 12477932; 12479412; 12483523; 12589965; 12663624; 12670666; 12738401; 12758063; 12787072; 12938144; 14503883; 14672279; 14714581; 14726415; 15013312; 15034766; 15037657; 15086483; 15122877; 15127951; 15174051; 15212828; 15223845; 15336605; 15340161; 15350470; 15479453; 15489334; 15603510; 15719405; 15728313; 15829557; 15832773; 15860739; 15882666; 16005452; 16049933; 16131730; 16170782; 16188386; 16213753; 16386559; 16437581; 16443201; 16446102; 16481598; 16608402; 16612982; 16612983; 16640527; 16713569; 16838182; 16979980; 17130480; 17192785; 17210589; 17310123; 17353786; 17394021; 17470433; 17537416; 17552057; 17636214; 17660266; 17668246; 17718592; 17728092; 17822797; 17826782; 17852800; 17852801; 17901710; 17903292; 17947596; 17963746; 17998865; 18026100; 18026102; 18044340; 18089366; 18187137; 18216060; 18280806; 18307033; 18314113; 18317874; 18319326; 18356552; 18373213; 18376131; 18408364; 18418694; 18454664; 18461289; 18496846; 18508448; 18511756; 18566660; 18594189; 18613859; 18667743; 18674527; 18703370; 18713542; 18804033; 18815241; 18824671; 18830724; 18949742; 18953178; 19056867; 19119287; 19137579; 19151417; 19252175; 19293566; 19357259; 19359536; 19394726; 19403428; 19419268; 19436062; 19446036; 19517296; 19523634; 19585181; 19597297; 19597298; 19601795; 19636441; 19674067; 19741512; 19765773; 19774637; 19808324; 19816197; 19819453; 19861863; 19915865; 19929276; 19938052; 20052346; 20132026; 20157249; 20175878; 20353367; 20383146; 20399428; 20413850; 20447660; 20450259; 20468060; 20482807; 20489688; 20502295; 20534741; 20538834; 20574650; 20576828; 20692472; 20699092; 20802417; 20806899; 20809110; 20849835; 20858959; 20879967; 20880607; 20882990; 20885369; 20921817; 20923994; 20926009; 20980977; 21051748; 21069389; 21094842; 21112096; 21115625; 21143385; 21151566; 21187262; 21198422; 21274315; 21286018; 21315176; 21388623; 21415918; 21470355; 21494031; 21518160; 21577020; 21617716; 21619490; 21697790; 21700821; 21710343; 21723753; 21740322; 21757984; 21782177; 21784814; 21795086; 21852668; 21861242; 21927796; 21928225; 22008011; 22057131; 22057374; 22072023; 22117908; 22139178; 22207347; 22209964; 22228436; 22267378; 22278599; 22287159; 22305809; 22307441; 22315498; 22315970; 22322818; 22349874; 22426688; 22467317; 22474211; 22515481; 22547045; 22622496; 22663994; 22669102; 22674847; 22705926; 22710694; 22809763; 22818840; 22837540; 22844527; 22898924; 22899766; 22947524; 22978689; 23008697; 23026591; 23026592; 23070277; 23089714; 23093662; 23095576; 23111743; 23142864; 23179198; 23194995; 23258794; 23300153; 23306163; 23335043; 23347458; 23383156; 23392363; 23396290; 23414098; 23414447; 23423253; 23429977; 23479071; 23518194; 23519666; 23530579; 23574755; 23594833; 23629649; 23629651; 23698027; 23698074; 23701892; 23706287; 23835667; 23836469; 23849305; 23852792; 24295505 cystatin C Ensembl:ENSG00000101439 HGNC:2475 HPRD:05056 MIM:604312 Vega:OTTHUMG00000032080 Other designations: bA218C14.4 (cystatin C)|cystatin 3|cystatin-3|cystatin-C|gamma-trace|neuroendocrine basic polypeptide|post-gamma-globulin CST3 Bin Zhao, Yue Liu, Oliver He AREI STF1 STFA WEB: http://www.ncbi.nlm.nih.gov/gene CSTA cystatin A (stefin A) 1475 3q21 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0001533 (EC: IDA, PMID: 10908733); GO_0002020 (EC: IPI, PMID: 6203523); GO_0004869 (EC: IDA, PMID: 6203523); GO_0005198 (EC: IDA, PMID: 10908733); GO_0005634 (EC: IDA); GO_0005737 (EC: IDA); GO_0010466 (EC: IDA, PMID: 6203523); GO_0010951 (EC: IDA, PMID: 6203523); GO_0016337 (EC: IMP); GO_0018149 (EC: IDA, PMID: 10908733); GO_0030216 (EC: IDA, PMID: 10908733); GO_0030674 (EC: IDA, PMID: 10908733) PMID: 107702; 107703; 1286667; 1940442; 2004763; 2424340; 2768224; 3067731; 3122506; 6203523; 6429090; 6689312; 7541394; 7578072; 7869384; 8999895; 9007972; 9219725; 9522124; 9585570; 9651321; 9769367; 10353845; 10908733; 11329013; 11451947; 11532941; 12477932; 12581647; 12682854; 12890214; 12921779; 14503883; 14747998; 15048832; 15175029; 15489334; 16169070; 16342276; 16969475; 17412564; 17441792; 17985332; 18029348; 18364739; 19615732; 19933866; 20461718; 20558539; 20705733; 21038029; 21139048; 21145461; 21319273; 21325429; 21412248; 21800051; 21890473; 21944047; 22118674; 22145905; 22354994; 22615763; 22787201; 23349634; 23546957; 23656633 cystatin A (stefin A) Ensembl:ENSG00000121552 HGNC:2481 HPRD:01697 MIM:184600 Vega:OTTHUMG00000159488 Other designations: cystatin AS|cystatin-A CSTA Bin Zhao, Yue Liu, Oliver He CCN2 HCS24 IGFBP8 NOV2 WEB: http://www.ncbi.nlm.nih.gov/gene CTGF connective tissue growth factor 1490 6q23.1 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0001502 (EC: IEA); GO_0001503 (EC: IEA); GO_0001525 (EC: IEA); GO_0001558 (EC: IEA); GO_0001934 (EC: IEA); GO_0001968 (EC: IEA); GO_0005178 (EC: IEA); GO_0005515 (EC: IPI, PMID: 16457822); GO_0005520 (EC: IEA); GO_0005576 (EC: TAS); GO_0005578 (EC: IEA); GO_0005615 (EC: IEA); GO_0005794 (EC: IDA); GO_0005801 (EC: IEA); GO_0005829 (EC: IEA); GO_0005886 (EC: TAS, PMID: 10809757); GO_0005938 (EC: IEA); GO_0006260 (EC: IEA); GO_0006367 (EC: TAS); GO_0007160 (EC: IEA); GO_0007229 (EC: IEA); GO_0008083 (EC: IEA); GO_0008201 (EC: IEA); GO_0008284 (EC: IEA); GO_0008543 (EC: IEA); GO_0008544 (EC: TAS, PMID: 10809757); GO_0009611 (EC: TAS, PMID: 10809757); GO_0009749 (EC: IEA); GO_0010260 (EC: IEA); GO_0010467 (EC: TAS); GO_0010628 (EC: IEA); GO_0010629 (EC: IEA); GO_0010942 (EC: IEA); GO_0016477 (EC: IEA); GO_0030154 (EC: IEA); GO_0030324 (EC: IEA); GO_0032330 (EC: IEA); GO_0032355 (EC: IEA); GO_0032967 (EC: IEA); GO_0034059 (EC: IEA); GO_0035556 (EC: IEA); GO_0035988 (EC: IEA); GO_0043200 (EC: IEA); GO_0043231 (EC: IDA); GO_0043280 (EC: IEA); GO_0043434 (EC: IEA); GO_0044255 (EC: TAS); GO_0044281 (EC: TAS); GO_0045597 (EC: IDA); GO_0046330 (EC: IDA); GO_0048471 (EC: IEA); GO_0050867 (EC: IEA); GO_0051385 (EC: IEA); GO_0051496 (EC: IDA); GO_0060401 (EC: IEA); GO_0060452 (EC: IEA); GO_0060548 (EC: IEA); GO_0070278 (EC: IEA); GO_0070318 (EC: IEA); GO_0070374 (EC: IDA); GO_0070542 (EC: IEA); GO_0072593 (EC: IEA) PMID: 1293144; 1334251; 1654338; 1925598; 9054739; 9242708; 9371786; 9927660; 10204117; 10350062; 10457363; 10614647; 10809757; 11101692; 11502477; 11532378; 11697887; 11744618; 11751417; 11818516; 11855859; 11897682; 11967989; 12016149; 12036876; 12114504; 12150969; 12217862; 12218048; 12239232; 12297288; 12398938; 12470643; 12477932; 12496395; 12535930; 12553878; 12571253; 12595495; 12668285; 12760970; 12787426; 12811819; 12831056; 12888575; 12941731; 12951326; 14512169; 14574404; 14585398; 14633859; 14684735; 14702039; 14758550; 14988298; 14996858; 15003992; 15039132; 15041728; 15045137; 15053922; 15090860; 15111539; 15113833; 15135656; 15247510; 15298857; 15345671; 15377500; 15459777; 15526358; 15536170; 15598883; 15703175; 15761189; 15761249; 15820145; 15857887; 15940639; 15941869; 15950619; 15956925; 16044512; 16186174; 16204411; 16247469; 16255854; 16270194; 16291159; 16344560; 16373901; 16457822; 16482098; 16501850; 16528248; 16543635; 16571622; 16684954; 16731742; 16790529; 16813525; 16820572; 16858645; 16877704; 16889607; 16899928; 17093396; 17116388; 17119035; 17170128; 17192487; 17215322; 17224075; 17239539; 17239853; 17375628; 17393107; 17399683; 17399955; 17437852; 17441427; 17498677; 17550972; 17579708; 17580150; 17602195; 17622321; 17657819; 17671176; 17673559; 17681742; 17765657; 17786299; 17876891; 17881752; 17908800; 17915216; 17922682; 17944991; 17951630; 17951996; 17996907; 18029348; 18080105; 18172013; 18212329; 18245529; 18264937; 18266973; 18287089; 18292194; 18319604; 18344285; 18358427; 18395916; 18400984; 18451226; 18481257; 18596209; 18622762; 18628999; 18639630; 18648180; 18676875; 18683703; 18783549; 18787533; 18805993; 18835464; 18836231; 18846327; 18922143; 18922980; 18936953; 19016368; 19054816; 19054818; 19069651; 19096030; 19153601; 19179545; 19208517; 19210343; 19218111; 19233176; 19243500; 19247157; 19253834; 19277979; 19298220; 19301259; 19322201; 19333718; 19378419; 19382180; 19409809; 19429239; 19453261; 19485899; 19494553; 19549692; 19565505; 19589256; 19625611; 19641518; 19657322; 19670427; 19673024; 19724859; 19730442; 19762080; 19764552; 19764567; 19789190; 19822645; 19850743; 19861250; 19863391; 19890996; 19893244; 19895313; 19922639; 19955828; 20004937; 20015945; 20018872; 20032097; 20032117; 20050020; 20053285; 20056838; 20117462; 20162579; 20180416; 20201953; 20222112; 20237235; 20237496; 20238043; 20305691; 20453000; 20522428; 20522536; 20576680; 20613589; 20628624; 20660557; 20685720; 20689330; 20697347; 20731800; 20814177; 20840672; 20966418; 20971063; 21054221; 21071938; 21081514; 21098624; 21166920; 21209863; 21236242; 21245951; 21245987; 21265091; 21349946; 21352962; 21424084; 21455569; 21484860; 21501375; 21503841; 21548990; 21558398; 21569762; 21576830; 21609573; 21609598; 21611193; 21629692; 21654839; 21659659; 21673687; 21747166; 21760921; 21771732; 21784839; 21800344; 21864521; 21907704; 21927029; 21928342; 21946149; 21955589; 22045431; 22099397; 22134873; 22205539; 22328559; 22335903; 22340243; 22350758; 22363806; 22395513; 22416876; 22422617; 22438586; 22454511; 22466886; 22516997; 22532143; 22533709; 22539964; 22576977; 22586581; 22611323; 22684333; 22699679; 22795353; 22814105; 22846210; 22906474; 22918238; 22964303; 23029004; 23044205; 23055574; 23056332; 23061738; 23073116; 23108098; 23142580; 23175185; 23227240; 23274856; 23284892; 23307318; 23323010; 23368866; 23383241; 23390502; 23414795; 23454256; 23494140; 23501329; 23530034; 23564449; 23567513; 23582094; 23593935; 23631855; 23648563; 23681229; 23687336; 23727026; 23741006; 23772794; 23824844; 23847295; 23988606; 24005672; 24014274; 24079812; 24090133; 24121259; 24597264 connective tissue growth factor Ensembl:ENSG00000118523 HGNC:2500 HPRD:00412 MIM:121009 Vega:OTTHUMG00000015573 Other designations: CCN family member 2|IBP-8|IGF-binding protein 8|IGFBP-8|hypertrophic chondrocyte-specific protein 24|insulin-like growth factor-binding protein 8 CTGF Bin Zhao, Yue Liu, Oliver He CTSX WEB: http://www.ncbi.nlm.nih.gov/gene CTSZ cathepsin Z 1522 20q13.32 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0002003 (EC: TAS); GO_0005615 (EC: IDA); GO_0005764 (EC: IEA); GO_0005783 (EC: IDA); GO_0005886 (EC: TAS); GO_0006508 (EC: TAS, PMID: 9642240); GO_0008234 (EC: IEA); GO_0043231 (EC: IDA); GO_0044267 (EC: TAS); GO_0060441 (EC: IEA) PMID: 9642240; 9738465; 10653162; 10653163; 10656802; 10745011; 10760573; 11030415; 11076863; 11256614; 11780052; 12477932; 15489334; 15489336; 15680921; 16381901; 17065156; 17601350; 18420963; 18976975; 18977241; 21139048; 21310951; 21354459; 21368909; 21454358; 21616554; 21963094; 21966391; 22139419; 22268729; 22451661; 22632162; 23128233; 23827504; 24026423 cathepsin Z Ensembl:ENSG00000101160 HGNC:2547 HPRD:04410 MIM:603169 Vega:OTTHUMG00000032858 Other designations: carboxypeptidase LB|cathepsin B2|cathepsin IV|cathepsin P|cathepsin X|cathepsin Y|cathepsin Z1|cysteine-type carboxypeptidase|lysosomal carboxypeptidase B|preprocathepsin P CTSZ Bin Zhao, Yue Liu, Oliver He AMCBX2 CGD GP91-1 GP91-PHOX GP91PHOX NOX2 p91-PHOX WEB: http://www.ncbi.nlm.nih.gov/gene CYBB cytochrome b-245, beta polypeptide 1536 Xp21.1 20140408 9606 X protein-coding Official from a nomenclature committee GO_0002474 (EC: TAS); GO_0002479 (EC: TAS); GO_0005244 (EC: IEA); GO_0005515 (EC: IPI, PMID: 3305576); GO_0005739 (EC: IEA); GO_0005791 (EC: IEA); GO_0005794 (EC: IEA); GO_0005887 (EC: IDA, PMID: 15233623); GO_0006801 (EC: IDA, PMID: 12042318); GO_0006801 (EC: TAS, PMID: 12716910); GO_0006954 (EC: TAS, PMID: 7719350); GO_0007584 (EC: IEA); GO_0009055 (EC: IDA, Qualifier: contributes_to, PMID: 12042318); GO_0016175 (EC: IDA, Qualifier: contributes_to, PMID: 12042318); GO_0016175 (EC: TAS, PMID: 12716910); GO_0020037 (EC: IMP, PMID: 9774399); GO_0030425 (EC: IEA); GO_0030670 (EC: TAS); GO_0042493 (EC: IEA); GO_0042554 (EC: IDA, PMID: 12042318); GO_0042554 (EC: TAS, PMID: 12716910); GO_0042590 (EC: TAS); GO_0043020 (EC: IDA, PMID: 3305576); GO_0043020 (EC: TAS, PMID: 12716910); GO_0043025 (EC: IEA); GO_0045087 (EC: IMP, PMID: 9774399); GO_0045087 (EC: TAS, PMID: 12716910); GO_0045730 (EC: IMP, PMID: 9774399); GO_0045730 (EC: TAS, PMID: 12716910); GO_0046872 (EC: IEA); GO_0046982 (EC: IPI, PMID: 12042318); GO_0050660 (EC: IMP, PMID: 9774399); GO_0050665 (EC: IEA); GO_0051701 (EC: TAS); GO_0055114 (EC: IDA, PMID: 12042318); GO_0055114 (EC: TAS, PMID: 12716910); GO_0090382 (EC: TAS) PMID: 1710153; 1905983; 2243141; 2425263; 2556453; 3305576; 3600768; 3600769; 7694872; 7719350; 7927345; 7938008; 8101486; 8182143; 8634708; 9083043; 9083071; 9111587; 9585602; 9667376; 9774399; 9790760; 9856476; 9888386; 10578014; 10914676; 10974555; 11248021; 11258927; 11462241; 11511930; 11893732; 11917128; 11926990; 11997083; 12042318; 12139950; 12477932; 12482831; 12589359; 12716910; 12768347; 12772776; 14605447; 15102091; 15181570; 15233623; 15249506; 15256399; 15308575; 15322037; 15377283; 15454837; 15479231; 15489334; 15569826; 15681849; 15684431; 15706079; 15777347; 15883163; 16179592; 16260066; 16344560; 16354686; 16516412; 16608528; 16839887; 16895900; 16987004; 17015440; 17060362; 17089090; 17363703; 17848987; 17940286; 18089853; 18202172; 18278805; 18321306; 18397177; 18402298; 18402299; 18453612; 18467643; 18473264; 18523147; 18546332; 18676680; 18682599; 18774749; 18783311; 18854154; 19116138; 19118104; 19170196; 19217269; 19265148; 19307214; 19337723; 19390057; 19401454; 19410294; 19536508; 19625176; 19692168; 19708127; 19717732; 19801678; 19805647; 19839755; 19843513; 19895673; 19929442; 19965781; 19995913; 20036216; 20043988; 20056178; 20080418; 20219570; 20346360; 20375611; 20407811; 20495074; 20630999; 20708598; 20724480; 20729109; 20803017; 20813210; 20832062; 20849923; 20861446; 21029719; 21042717; 21071703; 21124855; 21172429; 21278346; 21278736; 21444627; 21524749; 21604087; 21636808; 21659519; 21683690; 21742780; 21796650; 21901141; 21906983; 21956105; 22125116; 22191478; 22272860; 22277655; 22287576; 22336250; 22354003; 22382877; 22383943; 22399808; 22493499; 22528837; 22550344; 22562447; 22690528; 22727869; 22746273; 22808130; 22865553; 22869144; 22876374; 22933115; 22938164; 23095975; 23118986; 23216310; 23237808; 23288160; 23333803; 23349115; 23476056; 23503476; 23955717; 24374334 cytochrome b-245, beta polypeptide Ensembl:ENSG00000165168 HGNC:2578 HPRD:02382 MIM:300481 Vega:OTTHUMG00000033175 Other designations: CGD91-phox|NADPH oxidase 2|cytochrome b(558) subunit beta|cytochrome b-245 heavy chain|cytochrome b558 subunit beta|heme-binding membrane glycoprotein gp91phox|neutrophil cytochrome b 91 kDa polypeptide|p22 phagocyte B-cytochrome|superoxide-generating NADPH oxidase heavy chain subunit CYBB Bin Zhao, Yue Liu, Oliver He CYPIVB1 P-450HP WEB: http://www.ncbi.nlm.nih.gov/gene CYP4B1 cytochrome P450, family 4, subfamily B, polypeptide 1 1580 RP4-732G19.1 1p33 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005506 (EC: IEA); GO_0005789 (EC: TAS); GO_0006805 (EC: TAS); GO_0008144 (EC: IEA); GO_0018585 (EC: IEA); GO_0018879 (EC: IEA); GO_0018917 (EC: IEA); GO_0019825 (EC: TAS, PMID: 2574990); GO_0020037 (EC: IEA); GO_0042738 (EC: IEA); GO_0044281 (EC: TAS); GO_0070330 (EC: IEA) PMID: 2298205; 2574990; 7894498; 8125298; 8313365; 8694864; 8889548; 9202751; 9364212; 9493761; 9498238; 10768437; 11062028; 11669629; 11737226; 11767004; 12142726; 12477932; 12837283; 15006160; 15128046; 15499177; 16344560; 18660489; 18713828; 19040121; 19074885; 19343046; 19898482; 19913121; 20379614; 20628086; 22675492 cytochrome P450, family 4, subfamily B, polypeptide 1 Ensembl:ENSG00000142973 HGNC:2644 HPRD:00491 MIM:124075 Vega:OTTHUMG00000007984 Other designations: cytochrome P450 4B1|cytochrome P450, subfamily IVB, polypeptide 1|cytochrome P450-HP|microsomal monooxygenase CYP4B1 Bin Zhao, Yue Liu, Oliver He CSCD DSPG2 PG40 PGII PGS2 SLRR1B WEB: http://www.ncbi.nlm.nih.gov/gene DCN decorin 1634 12q21.33 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0001822 (EC: IEA); GO_0001890 (EC: IEA); GO_0005518 (EC: IEA); GO_0005539 (EC: IEA); GO_0005576 (EC: TAS); GO_0005589 (EC: IEA); GO_0005615 (EC: IDA); GO_0005796 (EC: TAS); GO_0005975 (EC: TAS); GO_0007519 (EC: IEA); GO_0007568 (EC: IEA); GO_0009612 (EC: IEA); GO_0009887 (EC: TAS, PMID: 7961765); GO_0019800 (EC: IEA); GO_0022617 (EC: TAS); GO_0030198 (EC: TAS); GO_0030203 (EC: TAS); GO_0030204 (EC: TAS); GO_0030206 (EC: TAS); GO_0030207 (EC: TAS); GO_0030208 (EC: TAS); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0031012 (EC: ISS, Qualifier: colocalizes_with); GO_0032496 (EC: IEA); GO_0042060 (EC: IEA); GO_0043202 (EC: TAS); GO_0044281 (EC: TAS); GO_0044822 (EC: IDA); GO_0047485 (EC: IEA); GO_0050840 (EC: IEA) PMID: 1431141; 1468447; 1544908; 1550960; 1611907; 1968422; 2059554; 2211661; 2374594; 2375748; 2590169; 2647739; 3194009; 3484330; 3597437; 7638106; 7798269; 7961765; 8093006; 8432526; 8432527; 8440685; 8889548; 9148753; 9252349; 9328841; 9435313; 9675033; 9895299; 9988678; 10382266; 10747008; 10793130; 11185075; 11598131; 11723132; 11879191; 11979972; 12071714; 12105206; 12106908; 12176891; 12187087; 12372409; 12387878; 12477932; 12482864; 12601001; 12730206; 12853035; 14633702; 14660661; 15016081; 15016829; 15147736; 15147741; 15209389; 15291816; 15336555; 15489334; 15652541; 15671264; 15785240; 15811857; 15923192; 15949467; 15994311; 16258169; 16434404; 16467781; 16583246; 16835231; 16844696; 16902402; 16935612; 16938379; 16989735; 17046817; 17067743; 17097211; 17146610; 17286067; 17335953; 17396208; 17516017; 17558846; 17651433; 17952560; 18029348; 18373940; 18413316; 18413650; 18436739; 18505923; 18514055; 18620607; 18621549; 18638554; 18830193; 19036156; 19212830; 19433454; 19453261; 19589127; 19590249; 19590686; 19616852; 19678923; 19684189; 19737460; 19834535; 19864245; 19913121; 20026052; 20301741; 20357198; 20360993; 20398359; 20484579; 20546727; 20591329; 20628086; 20628624; 20644730; 20707770; 20974860; 21185747; 21205989; 21360479; 21658281; 21702857; 21723264; 21791066; 21791437; 21809347; 21840990; 21958730; 21993463; 22104218; 22159220; 22329809; 22363530; 22479366; 22490077; 22512703; 22678721; 22870031; 22871215; 22880013; 22888166; 22990118; 22992875; 23007289; 23029096; 23193185; 23431957; 23685109; 23747391; 23798385; 23939413; 24152495 decorin Ensembl:ENSG00000011465 HGNC:2705 HPRD:00501 MIM:125255 Vega:OTTHUMG00000169998 Other designations: PG-S2|bone proteoglycan II|decorin proteoglycan|dermatan sulphate proteoglycans II|proteoglycan core protein|small leucine-rich protein 1B DCN Bin Zhao, Yue Liu, Oliver He CEBPZ CHOP CHOP-10 CHOP10 GADD153 WEB: http://www.ncbi.nlm.nih.gov/gene DDIT3 DNA-damage-inducible transcript 3 1649 12q13.1-q13.2 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0001955 (EC: IEA); GO_0003677 (EC: IDA, PMID: 14667815); GO_0003700 (EC: IEA); GO_0003714 (EC: TAS, PMID: 7503811); GO_0005515 (EC: IPI, PMID: 15775988); GO_0005634 (EC: IDA); GO_0005654 (EC: TAS); GO_0005770 (EC: IEA); GO_0006355 (EC: IMP, PMID: 17872950); GO_0006974 (EC: TAS, PMID: 1339368); GO_0006983 (EC: IEA); GO_0006986 (EC: IDA, PMID: 18940792); GO_0006987 (EC: TAS); GO_0007050 (EC: IEA); GO_0008134 (EC: IPI, PMID: 16434966); GO_0016055 (EC: IEA); GO_0030968 (EC: TAS); GO_0032757 (EC: IMP); GO_0034976 (EC: IDA, PMID: 18940792); GO_0042594 (EC: IEA); GO_0042789 (EC: IDA, PMID: 14667815); GO_0043161 (EC: IDA, PMID: 17872950); GO_0043433 (EC: IDA, PMID: 16434966); GO_0043525 (EC: IEA); GO_0043565 (EC: IEA); GO_0043620 (EC: TAS, PMID: 19816510); GO_0044267 (EC: TAS); GO_0044324 (EC: ISS, PMID: 16434966); GO_0045454 (EC: IDA, PMID: 14667815); GO_0045662 (EC: IEA); GO_0045892 (EC: IDA, PMID: 18940792); GO_0045893 (EC: IDA, PMID: 15322075); GO_0045944 (EC: IMP); GO_0051209 (EC: IEA); GO_0070059 (EC: IDA, PMID: 18940792); GO_0070059 (EC: IMP, PMID: 15322075); GO_0090090 (EC: ISS, PMID: 16434966); GO_2000016 (EC: IDA, PMID: 16434966) PMID: 1283316; 1339368; 1547942; 1990262; 2372777; 7503811; 8510758; 8622660; 8637704; 8650547; 8662954; 8889549; 10523647; 10713066; 11691921; 11805088; 11948400; 12006103; 12069855; 12082616; 12097650; 12138118; 12168790; 12297725; 12477932; 12618752; 12706815; 12805554; 12876286; 12939601; 14630918; 14635187; 14667815; 14669326; 14685163; 15001576; 15053923; 15271854; 15277326; 15286712; 15308577; 15316935; 15322075; 15327748; 15489334; 15588942; 15659384; 15688424; 15775988; 15870698; 15917187; 16005964; 16098044; 16189514; 16434966; 16463383; 16511829; 16651630; 16942595; 16958678; 17171638; 17273769; 17276738; 17468515; 17513780; 17601350; 17616685; 17620318; 17647282; 17652152; 17686866; 17709599; 17872950; 17968315; 18278507; 18394432; 18396163; 18534616; 18541659; 18593935; 18679584; 18680108; 18772138; 18850010; 18940792; 18977241; 19037087; 19061639; 19107326; 19116245; 19470730; 19558691; 19672300; 19722195; 19723703; 19733664; 19744850; 19816510; 19855386; 19934253; 20017906; 20032083; 20116099; 20122151; 20211142; 20398657; 20424162; 20430872; 20492726; 20554776; 20562859; 20829347; 20876114; 20889551; 21044953; 21179554; 21189163; 21285359; 21365646; 21402790; 21471847; 21479362; 21693764; 21697087; 21697995; 21700680; 21732477; 21741997; 21801305; 21873270; 21966512; 21988832; 22094256; 22096849; 22146569; 22157935; 22242125; 22246806; 22261448; 22289049; 22496840; 22570737; 22609407; 22669460; 22691366; 22753273; 22800509; 22815481; 22995304; 23053497; 23065795; 23213463; 23339468; 23412101; 23546223; 23661758; 24060278; 24078627; 24250222 DNA-damage-inducible transcript 3 Ensembl:ENSG00000175197 HGNC:2726 HPRD:00529 MIM:126337 Vega:OTTHUMG00000170046 Other designations: C/EBP zeta|CCAAT/enhancer-binding protein homologous protein|DDIT-3|DNA damage-inducible transcript 3 protein|c/EBP-homologous protein 10|growth arrest and DNA damage-inducible protein GADD153 DDIT3 Bin Zhao, Yue Liu, Oliver He DNL1 DRNI WEB: http://www.ncbi.nlm.nih.gov/gene DNASE1 deoxyribonuclease I 1773 16p13.3 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0003779 (EC: IEA); GO_0004530 (EC: IEA); GO_0005515 (EC: IPI, PMID: 12849983); GO_0005576 (EC: IEA); GO_0005635 (EC: IEA); GO_0006915 (EC: IEA) PMID: 2251263; 2277032; 2349940; 2395459; 2921043; 3263467; 7625762; 7762978; 7789176; 7867802; 8586059; 8792814; 9420147; 10381379; 11241278; 11332641; 11474115; 11479590; 11707283; 12005024; 12477932; 12708782; 12849983; 14613299; 14688237; 14702039; 15188364; 15333586; 15363449; 15489334; 15616553; 15711563; 16352456; 16382368; 16449364; 16751776; 16771825; 16877481; 17032129; 17320453; 17360785; 17405189; 17588132; 18174230; 18311594; 19022625; 19055475; 19181929; 19318394; 19360410; 19362700; 19844716; 19863681; 19913121; 20417303; 20439745; 20628086; 20800603; 20856893; 21233855; 21235399; 21282512; 22094313; 22479529; 23215638; 23225239; 23273922; 24206041 deoxyribonuclease I HGNC:2956 HPRD:00509 MIM:125505 Other designations: DNase I, lysosomal|Dornase alfa|deoxyribonuclease-1|human urine deoxyribonuclease I DNASE1 Bin Zhao, Yue Liu, Oliver He DHP2 DNAS1L3 LSD SLEB16 WEB: http://www.ncbi.nlm.nih.gov/gene DNASE1L3 deoxyribonuclease I-like 3 1776 3p14.3 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0003677 (EC: IEA); GO_0004536 (EC: TAS, PMID: 9070308); GO_0005509 (EC: TAS, PMID: 9205125); GO_0005634 (EC: IEA); GO_0006259 (EC: TAS, PMID: 9070308); GO_0006309 (EC: IEA); GO_0010623 (EC: IEA); GO_0016888 (EC: IEA) PMID: 9070308; 9205125; 9714828; 11141064; 12095301; 12154052; 12477932; 12943533; 14646506; 14702039; 14725611; 15489334; 15629432; 16344560; 16427601; 19559017; 19574717; 20379614; 20800603; 21692081; 22019780; 23229555; 23568457; 23666765; 24206041 deoxyribonuclease I-like 3 Ensembl:ENSG00000163687 HGNC:2959 HPRD:03764 MIM:602244 Vega:OTTHUMG00000159153 Other designations: DNase I homolog protein 2|DNase I homolog protein DHP2|DNase I-like 3|DNase gamma|LS-DNase|Liver and spleen DNase|deoxyribonuclease I-like III|deoxyribonuclease gamma DNASE1L3 Bin Zhao, Yue Liu, Oliver He DTR DTS DTSF HEGFL WEB: http://www.ncbi.nlm.nih.gov/gene HBEGF heparin-binding EGF-like growth factor 1839 5q23 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0005154 (EC: IEA); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 12743035); GO_0005615 (EC: ISS); GO_0005615 (EC: TAS, PMID: 15389565); GO_0005887 (EC: ISS); GO_0005887 (EC: TAS, PMID: 15389565); GO_0007165 (EC: TAS, PMID: 1840698); GO_0007173 (EC: IMP, PMID: 17655843); GO_0007173 (EC: TAS); GO_0007517 (EC: TAS, PMID: 8347598); GO_0008016 (EC: IEA); GO_0008083 (EC: IDA, PMID: 12070119); GO_0008201 (EC: IMP, PMID: 8300582); GO_0008543 (EC: TAS); GO_0009986 (EC: IDA, PMID: 12743035); GO_0009986 (EC: NAS, PMID: 15289334); GO_0030307 (EC: IEA); GO_0030335 (EC: IMP, PMID: 17655843); GO_0035313 (EC: IEA); GO_0038095 (EC: TAS); GO_0045087 (EC: TAS); GO_0048011 (EC: TAS); GO_0048015 (EC: TAS); GO_0048661 (EC: IEA); GO_0051545 (EC: IEA); GO_0051549 (EC: IEA); GO_0051897 (EC: IMP, PMID: 17655843); GO_0090303 (EC: IMP, PMID: 17655843) PMID: 1556128; 1577791; 1840698; 1939101; 3436221; 7532176; 7590736; 7836353; 8051092; 8060360; 8125298; 8194524; 8300582; 8347598; 9135143; 9659904; 10576204; 10749879; 11125426; 11340068; 11432822; 11735113; 11761337; 11769972; 11825873; 11846885; 11920609; 11922634; 11943653; 11983897; 12070119; 12095415; 12099696; 12112577; 12149405; 12163414; 12230876; 12466384; 12477932; 12568494; 12612909; 12725245; 12743035; 12768307; 12835543; 12882762; 12952982; 12958167; 14573593; 14597771; 14634113; 14738873; 14764442; 15062539; 15169883; 15219838; 15274392; 15289334; 15331606; 15372022; 15389565; 15489334; 15509542; 15562026; 15755902; 15827558; 15979989; 15988409; 16034135; 16407398; 16470170; 16557002; 16687414; 16837648; 16901467; 16923819; 16996055; 17001310; 17392284; 17472728; 17525275; 17548351; 17637826; 17654528; 17655843; 17668298; 17717322; 17855771; 17928891; 17960400; 17962208; 18093224; 18463770; 18686008; 18691754; 18725202; 18852147; 18925469; 18929421; 19064678; 19127210; 19218109; 19337254; 19389413; 19559571; 19609315; 19671876; 19682489; 19913121; 19919524; 19961362; 19996587; 20130271; 20131286; 20332144; 20351696; 20424473; 20586269; 20628086; 20739660; 20847549; 20856931; 20889674; 20946474; 21386996; 21413023; 21640162; 21788507; 22009535; 22110740; 22136955; 22209887; 22291012; 22319602; 22402363; 22592159; 22646534; 22718294; 23146907; 23277101; 23349913; 23589494; 23598347; 23787814; 23907942; 24043629 heparin-binding EGF-like growth factor Ensembl:ENSG00000113070 HGNC:3059 HPRD:00526 MIM:126150 Vega:OTTHUMG00000129496 Other designations: diphtheria toxin receptor (heparin-binding EGF-like growth factor)|diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)|heparin-binding epidermal growth factor|proheparin-binding EGF-like growth factor HBEGF Bin Zhao, Yue Liu, Oliver He CL100 HVH1 MKP-1 MKP1 PTPN10 WEB: http://www.ncbi.nlm.nih.gov/gene DUSP1 dual specificity phosphatase 1 1843 5q34 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0000188 (EC: IBA); GO_0000188 (EC: ISS); GO_0001706 (EC: IBA); GO_0004726 (EC: TAS, PMID: 1406996); GO_0005515 (EC: IPI, PMID: 10617468); GO_0005634 (EC: IDA, PMID: 7593328); GO_0005654 (EC: IBA); GO_0005737 (EC: IDA, PMID: 7593328); GO_0006470 (EC: IBA); GO_0006979 (EC: TAS, PMID: 1406996); GO_0008330 (EC: IEA); GO_0009416 (EC: IEA); GO_0017017 (EC: IBA); GO_0017017 (EC: ISS); GO_0032355 (EC: IEA); GO_0032526 (EC: IEA); GO_0032870 (EC: IEA); GO_0033574 (EC: IEA); GO_0035335 (EC: ISS); GO_0035556 (EC: IEA); GO_0035970 (EC: ISS); GO_0042542 (EC: IEA); GO_0042981 (EC: IBA); GO_0043065 (EC: IEA); GO_0043066 (EC: IEA); GO_0043407 (EC: IDA, PMID: 7593328); GO_0043409 (EC: ISS); GO_0051384 (EC: IEA); GO_0051447 (EC: ISS); GO_0051591 (EC: IEA); GO_0051592 (EC: IEA); GO_0071850 (EC: ISS); GO_0090266 (EC: ISS) PMID: 1406996; 7535770; 7593328; 7806236; 8106404; 8168826; 8221888; 8389479; 8390041; 9571625; 9599409; 10022904; 10617468; 11062068; 11278799; 11359773; 12080474; 12356755; 12391149; 12432554; 12477932; 12506119; 12676937; 12765304; 12890671; 12947325; 12960255; 14551204; 14680833; 14702039; 14724291; 15059515; 15173070; 15247770; 15339908; 15448190; 15489334; 15569826; 15590693; 15614136; 15677475; 16044158; 16081065; 16224818; 16286470; 16289033; 16293973; 16387640; 16951204; 17073741; 17131384; 17489738; 17638884; 17681939; 17690186; 17761948; 17848570; 18003751; 18089824; 18095520; 18178562; 18314542; 18367666; 18403641; 18434324; 18441094; 18477563; 18490444; 18519678; 18723442; 18726921; 18782768; 19020052; 19032224; 19117950; 19262425; 19411256; 19417026; 19553005; 19604093; 19648110; 19697705; 19724859; 19755862; 19793766; 19797979; 19913121; 19940143; 20043958; 20089808; 20100830; 20145951; 20228065; 20353815; 20375469; 20555314; 20628086; 20673984; 20689807; 20708668; 20803086; 20805296; 20829434; 20868379; 20890299; 20936779; 20953200; 21060794; 21454676; 21507959; 21547253; 21610072; 21715333; 21733716; 21803700; 21840882; 21906983; 21959016; 21960346; 21963094; 21987572; 21988832; 22014408; 22020934; 22200679; 22301548; 22505724; 22610099; 22743041; 22797925; 22924482; 22991462; 23030431; 23097457; 23149933; 23169297; 23625220; 23825193 dual specificity phosphatase 1 Ensembl:ENSG00000120129 HGNC:3064 HPRD:02835 MIM:600714 Vega:OTTHUMG00000130523 Other designations: MAP kinase phosphatase 1|dual specificity protein phosphatase 1|dual specificity protein phosphatase hVH1|mitogen-activated protein kinase phosphatase 1|protein-tyrosine phosphatase CL100|serine/threonine specific protein phosphatase DUSP1 Bin Zhao, Yue Liu, Oliver He PAC-1 PAC1 WEB: http://www.ncbi.nlm.nih.gov/gene DUSP2 dual specificity phosphatase 2 1844 2q11 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0000188 (EC: IBA); GO_0001706 (EC: IBA); GO_0004725 (EC: IEA); GO_0005515 (EC: IPI); GO_0005634 (EC: TAS, PMID: 8107850); GO_0005654 (EC: IBA); GO_0006470 (EC: IBA); GO_0008330 (EC: TAS, PMID: 8107850); GO_0017017 (EC: IBA); GO_0035335 (EC: TAS, PMID: 7681221); GO_0042981 (EC: IBA); GO_0051019 (EC: IEA) PMID: 7535770; 7590752; 7681221; 7806236; 8107850; 12477932; 12575935; 12673251; 12826159; 14680939; 15489334; 16288922; 17471234; 17827388; 18178562; 18600034; 19797078; 19913121; 20628086; 20723301; 21490398; 21906983; 21963094; 21984126; 21987572; 22505724 dual specificity phosphatase 2 Ensembl:ENSG00000158050 HGNC:3068 HPRD:04348 MIM:603068 Vega:OTTHUMG00000130456 Other designations: dual specificity protein phosphatase 2|dual specificity protein phosphatase PAC-1|dual-specificity phosphatase 2|serine/threonine specific protein phosphatase DUSP2 Bin Zhao, Yue Liu, Oliver He ARCND3 ET1 HDLCQ7 PPET1 QME WEB: http://www.ncbi.nlm.nih.gov/gene EDN1 endothelin 1 1906 6p24.1 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0000122 (EC: IDA, PMID: 19767294); GO_0001516 (EC: IDA, PMID: 9492062); GO_0001569 (EC: IEA); GO_0001666 (EC: IEA); GO_0001701 (EC: IEA); GO_0001821 (EC: IEA); GO_0003100 (EC: IDA, PMID: 2649896); GO_0005125 (EC: IDA, PMID: 19767294); GO_0005179 (EC: IDA, PMID: 10770212); GO_0005515 (EC: IPI); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 10770212); GO_0005737 (EC: IDA, PMID: 12379507); GO_0006885 (EC: IEA); GO_0007166 (EC: IDA, PMID: 1713452); GO_0007186 (EC: IDA, PMID: 17078114); GO_0007204 (EC: IDA, PMID: 1917960); GO_0007205 (EC: IEA); GO_0007267 (EC: IDA, PMID: 12379507); GO_0007507 (EC: IEA); GO_0007585 (EC: IEA); GO_0007589 (EC: IEA); GO_0008284 (EC: IDA, PMID: 17078114); GO_0009953 (EC: IEA); GO_0010259 (EC: IEA); GO_0010460 (EC: IDA, PMID: 2649896); GO_0010595 (EC: TAS, PMID: 8999856); GO_0010613 (EC: IDA, PMID: 12847114); GO_0010870 (EC: IDA, PMID: 17178876); GO_0014032 (EC: IEA); GO_0014065 (EC: IDA, PMID: 17078114); GO_0014824 (EC: IDA, PMID: 8982507); GO_0014824 (EC: TAS, PMID: 1725334); GO_0014826 (EC: IDA, PMID: 9422810); GO_0015758 (EC: IEA); GO_0016049 (EC: IEA); GO_0019229 (EC: IEA); GO_0019233 (EC: IEA); GO_0019722 (EC: IDA, PMID: 10770212); GO_0030072 (EC: IDA, PMID: 10770212); GO_0030185 (EC: IDA, PMID: 16820593); GO_0030195 (EC: TAS, PMID: 16820593); GO_0030335 (EC: IDA, PMID: 9696419); GO_0030593 (EC: IDA, Qualifier: NOT, PMID: 9696419); GO_0030818 (EC: IEA); GO_0031583 (EC: IEA); GO_0031707 (EC: IDA, PMID: 10770212); GO_0031708 (EC: IDA, PMID: 10770212); GO_0032269 (EC: IDA, PMID: 19767294); GO_0032496 (EC: IEA); GO_0033574 (EC: IEA); GO_0034392 (EC: IEA); GO_0035094 (EC: IEA); GO_0035810 (EC: IEA); GO_0035815 (EC: IEA); GO_0042045 (EC: IEA); GO_0042310 (EC: IDA, PMID: 11410113); GO_0042313 (EC: IDA, PMID: 16820593); GO_0042474 (EC: IEA); GO_0042482 (EC: IEA); GO_0042554 (EC: IEA); GO_0043179 (EC: IEA); GO_0043200 (EC: IEA); GO_0043406 (EC: IDA, PMID: 10770212); GO_0043507 (EC: IDA, PMID: 12847114); GO_0045321 (EC: TAS, PMID: 16820593); GO_0045429 (EC: TAS, PMID: 8999856); GO_0045793 (EC: IDA, PMID: 12847114); GO_0045840 (EC: IDA, PMID: 10770212); GO_0045987 (EC: IEA); GO_0046887 (EC: IDA, PMID: 10770212); GO_0046888 (EC: IEA); GO_0048016 (EC: IDA, PMID: 1917960); GO_0048661 (EC: IDA, PMID: 10393673); GO_0051216 (EC: IEA); GO_0051482 (EC: IEA); GO_0051771 (EC: IDA, PMID: 16820593); GO_0051899 (EC: IEA); GO_0051930 (EC: IEA); GO_0060137 (EC: IEA); GO_0060298 (EC: IMP, PMID: 12847114); GO_0060585 (EC: IMP, PMID: 9492062); GO_0070101 (EC: IC, PMID: 17178876); GO_0071347 (EC: IEA); GO_0071356 (EC: IEA); GO_0090023 (EC: IEA) PMID: 1280264; 1422154; 1515112; 1713452; 1725334; 1736987; 1859417; 1864385; 1917960; 2005113; 2018043; 2201681; 2649896; 2659594; 2670930; 2678110; 3282927; 7509919; 7664037; 7773179; 8125160; 8144511; 8450044; 8482849; 8889548; 8982507; 8999856; 9257865; 9284755; 9324057; 9422810; 9453574; 9492062; 9595387; 9696419; 10220569; 10231710; 10334806; 10391210; 10393673; 10438732; 10620363; 10770212; 11179511; 11210078; 11399938; 11410113; 11448123; 11593097; 11601839; 11693192; 11742499; 11751711; 11795667; 11831453; 11858185; 11866544; 11932487; 11934840; 11991554; 11991733; 12009599; 12011762; 12013496; 12068797; 12077518; 12082592; 12087564; 12107733; 12117726; 12137974; 12144123; 12151765; 12189238; 12230494; 12379507; 12446192; 12459174; 12477932; 12508654; 12511547; 12529269; 12557940; 12565798; 12588850; 12620701; 12629276; 12657945; 12695528; 12721154; 12746758; 12750312; 12847114; 12855940; 12861161; 12887757; 12907686; 12941866; 12963677; 12972292; 13680553; 14514737; 14519635; 14523636; 14558091; 14574404; 14578413; 14587645; 14602502; 14634722; 14636060; 14639018; 14660616; 14685288; 14692644; 14733410; 14735061; 14736087; 14763917; 14769714; 15009217; 15041798; 15044479; 15047866; 15073116; 15093707; 15126915; 15139053; 15161426; 15188945; 15194301; 15198485; 15213100; 15224360; 15240857; 15269821; 15319532; 15347673; 15369130; 15466627; 15481145; 15489334; 15505112; 15518541; 15558022; 15568807; 15610525; 15621731; 15623376; 15643502; 15646831; 15652492; 15691296; 15699938; 15702240; 15743480; 15817494; 15818445; 15838269; 15838299; 15838323; 15838328; 15838333; 15838334; 15838336; 15838337; 15838340; 15838344; 15838351; 15838357; 15838368; 15838369; 15838370; 15864745; 15946241; 15946919; 15979050; 15988412; 16002759; 16021085; 16026642; 16076689; 16095497; 16097909; 16098041; 16169070; 16217751; 16234608; 16291872; 16320159; 16336267; 16357176; 16452160; 16466695; 16521405; 16526196; 16531800; 16582543; 16597412; 16648553; 16713569; 16720059; 16754659; 16769575; 16778329; 16809784; 16815566; 16820593; 16864942; 16931893; 16943682; 16947775; 16956834; 16971893; 16982943; 16986361; 17016610; 17016617; 17020466; 17078114; 17122448; 17123690; 17148661; 17178876; 17197385; 17203161; 17221318; 17222082; 17264805; 17274718; 17291632; 17328840; 17335511; 17340622; 17345061; 17353514; 17357073; 17357519; 17395629; 17404040; 17438153; 17444275; 17460393; 17470272; 17497038; 17497041; 17497362; 17505299; 17525706; 17535295; 17549358; 17556493; 17569300; 17575543; 17576235; 17664075; 17664854; 17681742; 17693542; 17701914; 17703412; 17850909; 17855483; 17875064; 17884295; 17893002; 17913962; 17938376; 17960156; 17967707; 17969585; 17996929; 18005077; 18023202; 18025413; 18031458; 18050250; 18063846; 18080871; 18212505; 18260253; 18288492; 18326921; 18346810; 18378042; 18379872; 18390205; 18395679; 18398338; 18401297; 18411415; 18436890; 18441204; 18442814; 18447854; 18463805; 18484695; 18489822; 18550016; 18568290; 18579320; 18579652; 18580062; 18603063; 18623111; 18660489; 18663623; 18676680; 18752143; 18764935; 18772174; 18794727; 18806884; 18809573; 18814847; 18822124; 18923236; 18945274; 18945538; 18953265; 18974277; 18991099; 18991188; 19012521; 19014602; 19046960; 19056482; 19057845; 19073831; 19074885; 19077312; 19086031; 19086263; 19087492; 19103606; 19116719; 19150882; 19170196; 19171135; 19188658; 19188660; 19212702; 19217622; 19225824; 19247692; 19254215; 19258923; 19264973; 19336370; 19358249; 19367425; 19369451; 19371341; 19391127; 19415232; 19416273; 19420105; 19446279; 19460784; 19475602; 19479828; 19520685; 19520754; 19526396; 19527488; 19536618; 19543207; 19558538; 19564455; 19578796; 19592490; 19625176; 19626996; 19634784; 19640695; 19661472; 19672034; 19687345; 19692168; 19717811; 19729965; 19730395; 19764340; 19767294; 19808370; 19862540; 19887561; 19899414; 19907721; 19913121; 19927348; 19948975; 19996987; 20015663; 20016521; 20028935; 20031624; 20051644; 20055532; 20055806; 20082271; 20083228; 20083432; 20091488; 20150570; 20188614; 20204072; 20217138; 20308035; 20339975; 20346360; 20368210; 20370579; 20416077; 20437399; 20452482; 20452970; 20485444; 20495015; 20497976; 20503287; 20537417; 20538124; 20538960; 20559285; 20562228; 20565774; 20572854; 20587610; 20588001; 20594474; 20594999; 20602615; 20608808; 20628086; 20628425; 20628428; 20634595; 20634796; 20634891; 20652766; 20663522; 20664700; 20670842; 20672350; 20673868; 20678167; 20685405; 20707291; 20725135; 20725137; 20725140; 20725141; 20725143; 20728421; 20837776; 20837906; 20873151; 20952631; 20952681; 20971496; 20974279; 21045115; 21059990; 21087804; 21129745; 21169360; 21174590; 21183790; 21208707; 21214096; 21217075; 21219832; 21251377; 21334758; 21356562; 21406182; 21418087; 21445967; 21490504; 21498707; 21498912; 21499502; 21515378; 21531894; 21557930; 21601190; 21637825; 21638248; 21656314; 21659661; 21666117; 21673044; 21677436; 21681744; 21701170; 21701423; 21712053; 21730058; 21741393; 21767690; 21773759; 21777246; 21786569; 21801587; 21801592; 21813388; 21826669; 21851036; 21896842; 21908890; 21932697; 21952518; 21959927; 22006997; 22045428; 22082020; 22113444; 22165675; 22175913; 22232246; 22265324; 22299030; 22321643; 22330820; 22341591; 22377253; 22406080; 22412088; 22415226; 22483689; 22483692; 22503784; 22504006; 22520393; 22525370; 22527528; 22545467; 22552325; 22553998; 22569256; 22580289; 22666926; 22675930; 22727793; 22759779; 22770822; 22796455; 22856221; 22856224; 22869459; 22907118; 22960172; 22965194; 22971991; 22994522; 23002189; 23018104; 23103494; 23142694; 23163519; 23208497; 23227981; 23233754; 23255664; 23273644; 23290569; 23329136; 23344160; 23372172; 23381795; 23401650; 23436272; 23436727; 23457411; 23523690; 23565184; 23643051; 23683481; 23713736; 23720837; 23815989; 23828677; 23832707; 23887640; 23902937; 24015303; 24056654; 24088894; 24184161; 24196534; 24268655 endothelin 1 Ensembl:ENSG00000078401 HGNC:3176 HPRD:07030 MIM:131240 Vega:OTTHUMG00000014266 Other designations: endothelin-1|preproendothelin-1 EDN1 Bin Zhao, Yue Liu, Oliver He HOMG4 URG WEB: http://www.ncbi.nlm.nih.gov/gene EGF epidermal growth factor 1950 4q25 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0000186 (EC: IEA); GO_0001525 (EC: IDA, PMID: 15611079); GO_0002576 (EC: TAS); GO_0005154 (EC: TAS, PMID: 15611079); GO_0005509 (EC: IEA); GO_0005515 (EC: IPI, PMID: 12297050); GO_0005576 (EC: IC, PMID: 9712850); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0005765 (EC: IDA, PMID: 17897319); GO_0005886 (EC: IEA); GO_0006260 (EC: TAS, PMID: 9482941); GO_0007165 (EC: TAS); GO_0007171 (EC: TAS, PMID: 9712850); GO_0007173 (EC: TAS); GO_0007262 (EC: ISS); GO_0007596 (EC: TAS); GO_0008083 (EC: IDA, PMID: 15611079); GO_0008284 (EC: IDA, PMID: 15611079); GO_0008543 (EC: TAS); GO_0010800 (EC: IDA, PMID: 16314496); GO_0016021 (EC: IEA); GO_0018108 (EC: IEA); GO_0021940 (EC: IEA); GO_0030168 (EC: TAS); GO_0030297 (EC: TAS, PMID: 9712850); GO_0031093 (EC: TAS); GO_0035413 (EC: IDA); GO_0038095 (EC: TAS); GO_0042059 (EC: TAS); GO_0042327 (EC: IDA, PMID: 15611079); GO_0043388 (EC: ISS); GO_0043406 (EC: IDA, PMID: 15611079); GO_0045087 (EC: TAS); GO_0045741 (EC: IDA, PMID: 15611079); GO_0045741 (EC: TAS, PMID: 9712850); GO_0045840 (EC: IDA, PMID: 15611079); GO_0045893 (EC: IDA, PMID: 16314496); GO_0048011 (EC: TAS); GO_0048015 (EC: TAS); GO_0048754 (EC: IEA); GO_0051048 (EC: IDA, PMID: 10559227); GO_0060749 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867); GO_0070371 (EC: IDA, PMID: 16314496); GO_0090279 (EC: IDA, PMID: 19996314); GO_0090370 (EC: IEA); GO_1900127 (EC: IDA, PMID: 17324121); GO_2000008 (EC: IDA, PMID: 19996314); GO_2000060 (EC: IEA) PMID: 300079; 1281549; 1334406; 1501243; 1522591; 1639032; 2789514; 2790960; 3486749; 3491360; 6290982; 6382023; 6603475; 7540053; 7558411; 7615511; 7640657; 7730382; 7736574; 8077234; 8123596; 8413296; 8419140; 8639530; 8796265; 8845374; 9188692; 9356464; 9482941; 9544989; 9661876; 9687510; 9712850; 9925763; 10085134; 10199559; 10436156; 10559227; 10567358; 10579352; 10648629; 10734310; 10748174; 10788520; 10913131; 10973965; 11438527; 11751923; 11786904; 11796824; 11823423; 11844511; 11894095; 11896055; 11903419; 11914075; 11925427; 11950840; 11971908; 11994282; 12009575; 12093292; 12138086; 12141529; 12163055; 12163506; 12192610; 12202942; 12218189; 12297050; 12368284; 12388817; 12397374; 12425525; 12477932; 12508124; 12531699; 12540376; 12593796; 12620237; 12637502; 12643788; 12667326; 12672817; 12722480; 12768436; 12788694; 12795334; 12879019; 12954631; 12960147; 14507446; 14520709; 14523024; 14560030; 14614718; 14651960; 14662770; 14665621; 14676838; 15003992; 15063762; 15081423; 15087376; 15129177; 15175028; 15180992; 15183666; 15192046; 15194442; 15252009; 15256384; 15260478; 15272014; 15329330; 15373781; 15373782; 15373802; 15475003; 15481560; 15485655; 15485674; 15488707; 15489334; 15491342; 15509542; 15536154; 15574420; 15611079; 15613483; 15620700; 15622242; 15659382; 15663953; 15675968; 15729146; 15735691; 15748906; 15798095; 15802268; 15837620; 15860930; 15886816; 15901830; 15913871; 15950078; 15950906; 15962011; 15982634; 16019439; 16033767; 16115648; 16134968; 16210470; 16214932; 16248985; 16274239; 16274250; 16282324; 16314496; 16316319; 16332692; 16344560; 16407418; 16407834; 16413767; 16428382; 16436184; 16584205; 16636672; 16691190; 16728406; 16762922; 16788380; 16820871; 16837648; 16847055; 16872636; 16885506; 16939220; 16946702; 16969495; 16979250; 17123472; 17175377; 17204151; 17223314; 17227756; 17311928; 17316357; 17324121; 17334773; 17392355; 17397984; 17433039; 17453000; 17473192; 17479438; 17545148; 17562024; 17567965; 17573555; 17578349; 17612563; 17617058; 17626784; 17634901; 17661145; 17673689; 17762162; 17851837; 17852426; 17897319; 17898861; 17912028; 17940864; 17943082; 17950068; 17962208; 17968796; 17986122; 17991726; 17991733; 18006148; 18036246; 18080773; 18088275; 18094008; 18096367; 18156174; 18167406; 18187620; 18212060; 18271526; 18271972; 18276761; 18292095; 18325497; 18349392; 18365874; 18382118; 18398039; 18434322; 18441095; 18463167; 18467441; 18483390; 18485152; 18487214; 18490463; 18511414; 18519765; 18543351; 18571008; 18583979; 18632979; 18676680; 18722874; 18757521; 18773861; 18813355; 18831963; 18844210; 18990689; 19010984; 19011936; 19014905; 19020743; 19032382; 19056867; 19064572; 19073827; 19074885; 19081071; 19086053; 19087984; 19110611; 19124506; 19127217; 19141999; 19144868; 19167371; 19170196; 19172394; 19179548; 19203995; 19236842; 19319135; 19336395; 19380191; 19388850; 19403524; 19415484; 19453261; 19460345; 19470771; 19484147; 19488063; 19491269; 19492417; 19520791; 19531499; 19544388; 19549686; 19549816; 19592671; 19604397; 19608641; 19619867; 19624835; 19625176; 19634110; 19670348; 19692168; 19708171; 19727227; 19749156; 19817957; 19823871; 19834535; 19840254; 19840943; 19853299; 19880507; 19887603; 19895983; 19896111; 19900104; 19913121; 19920151; 19921131; 19951549; 19953086; 19996314; 20033794; 20036812; 20092031; 20101173; 20108217; 20126978; 20127414; 20157331; 20158379; 20164030; 20169434; 20197289; 20201065; 20201926; 20203692; 20207214; 20303009; 20332099; 20351270; 20362419; 20364107; 20375273; 20379614; 20398806; 20412119; 20418097; 20423485; 20424473; 20429940; 20430735; 20444693; 20453000; 20466569; 20472833; 20482449; 20487573; 20498653; 20514023; 20564212; 20587610; 20598233; 20606012; 20621058; 20628086; 20628624; 20631636; 20634891; 20644561; 20674545; 20690902; 20714325; 20727496; 20727996; 20800603; 20818748; 20819124; 20830310; 20832399; 20851879; 20854793; 20889718; 20963824; 20969541; 21029725; 21048224; 21062739; 21087604; 21099256; 21123997; 21186997; 21187523; 21209099; 21212517; 21224998; 21236296; 21247755; 21273531; 21274378; 21309478; 21358296; 21376205; 21436680; 21439278; 21533003; 21567271; 21678081; 21752154; 21868386; 21872446; 21971700; 21982438; 22022452; 22033246; 22070650; 22087246; 22106858; 22122913; 22129558; 22236006; 22279551; 22293333; 22308022; 22401280; 22403631; 22404757; 22413835; 22416276; 22433566; 22457050; 22479527; 22479638; 22481252; 22493503; 22503865; 22504456; 22505024; 22532606; 22534548; 22574813; 22578596; 22621366; 22668508; 22677173; 22701712; 22721997; 22727668; 22745586; 22773267; 22782629; 22797360; 22829589; 22829952; 22852842; 22914212; 22925500; 22951723; 22990108; 23007402; 23090954; 23188118; 23201894; 23219876; 23229345; 23382691; 23403233; 23419149; 23457387; 23466131; 23542467; 23577098; 23608378; 23631828; 23645212; 23689072; 23711349; 23731208; 23790025; 23843455; 23869217; 23869762; 23899513; 23902938; 23936413; 23963773; 24036907; 24043306; 24045955 epidermal growth factor Ensembl:ENSG00000138798 HGNC:3229 HPRD:00578 MIM:131530 Vega:OTTHUMG00000132044 Other designations: beta-urogastrone|pro-epidermal growth factor EGF Bin Zhao, Yue Liu, Oliver He AT225 G0S30 KROX-24 NGFI-A TIS8 ZIF-268 ZNF225 WEB: http://www.ncbi.nlm.nih.gov/gene EGR1 early growth response 1 1958 5q31.1 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0000122 (EC: IEA); GO_0000976 (EC: IDA, PMID: 18718911); GO_0000979 (EC: IEA); GO_0001077 (EC: IEA); GO_0001975 (EC: IEA); GO_0003677 (EC: IDA, PMID: 12560508); GO_0003690 (EC: IEA); GO_0003700 (EC: IDA, PMID: 12560508); GO_0005515 (EC: IPI, PMID: 14979875); GO_0005634 (EC: IDA); GO_0005634 (EC: ISS); GO_0005654 (EC: TAS); GO_0005730 (EC: IDA, Qualifier: NOT); GO_0005737 (EC: IDA, PMID: 19057511); GO_0005737 (EC: ISS); GO_0006366 (EC: IDA, PMID: 19057511); GO_0007611 (EC: IEA); GO_0007623 (EC: IEA); GO_0008134 (EC: IEA); GO_0009749 (EC: IEA); GO_0019221 (EC: TAS); GO_0030217 (EC: IEA); GO_0030509 (EC: IEA); GO_0031667 (EC: IEA); GO_0032869 (EC: IEA); GO_0033233 (EC: IDA, PMID: 19057511); GO_0034465 (EC: IEA); GO_0035035 (EC: IPI); GO_0035690 (EC: IEA); GO_0035914 (EC: IBA); GO_0042220 (EC: IEA); GO_0043066 (EC: IBA); GO_0043525 (EC: IEA); GO_0043565 (EC: IDA, PMID: 1662794); GO_0045471 (EC: IEA); GO_0045893 (EC: IDA, PMID: 12560508); GO_0045944 (EC: IDA, PMID: 19057511); GO_0045944 (EC: IMP); GO_0046872 (EC: IEA); GO_0048169 (EC: IBA); GO_0048709 (EC: IEA); GO_0051602 (EC: IEA); GO_0060291 (EC: IEA); GO_0060337 (EC: TAS); GO_0070498 (EC: IMP); GO_0071236 (EC: IEA); GO_0071260 (EC: IEA); GO_0071317 (EC: IEA); GO_0071320 (EC: IBA); GO_0071363 (EC: IEA); GO_0071371 (EC: IBA); GO_0071372 (EC: IEA); GO_0071383 (EC: IEA); GO_0071455 (EC: IEA); GO_0071456 (EC: IEA); GO_0071480 (EC: IEA); GO_0071504 (EC: ISS); GO_0071506 (EC: ISS); GO_0071873 (EC: IEA); GO_0072110 (EC: ISS); GO_0072303 (EC: ISS); GO_0090090 (EC: IEA) PMID: 1090709; 1383501; 1411083; 1569051; 1662794; 1702972; 2109185; 2110381; 2377485; 3127059; 3839394; 7624335; 8662759; 8668170; 9806899; 10049687; 10051405; 10079243; 10082522; 10409428; 10575214; 10671503; 10806043; 10849212; 11124866; 11251186; 11278640; 11795984; 11819815; 11830539; 11909874; 11925592; 11956220; 11978801; 12011097; 12065847; 12165491; 12235180; 12379479; 12384223; 12393577; 12433834; 12439908; 12456801; 12457461; 12470865; 12477932; 12507899; 12517959; 12543866; 12553019; 12553721; 12560487; 12560508; 12566441; 12569082; 12571843; 12618431; 12637574; 12690110; 12706485; 12729460; 12840049; 12872165; 12890669; 12947119; 12958075; 14522979; 14662774; 14722058; 14744935; 14966901; 14979875; 14985468; 15003938; 15023995; 15155664; 15211096; 15225550; 15231681; 15449318; 15486985; 15489334; 15517593; 15523672; 15545275; 15548700; 15611055; 15616591; 15640148; 15689620; 15709168; 15875316; 15910736; 15923644; 15999367; 16007175; 16079301; 16091742; 16093249; 16260776; 16382041; 16393964; 16464174; 16552541; 16702209; 16741963; 16831524; 16858414; 16995904; 17099140; 17257596; 17420284; 17448597; 17494953; 17502875; 17516844; 17559061; 17581316; 17599039; 17631285; 17631291; 17671831; 17932312; 17967787; 17975260; 17986608; 18027854; 18067864; 18068676; 18088351; 18171299; 18174470; 18204200; 18215136; 18247371; 18281035; 18281687; 18303024; 18316600; 18324520; 18434015; 18434089; 18435749; 18460021; 18469860; 18489490; 18507785; 18515748; 18525291; 18583706; 18604866; 18636116; 18675783; 18682391; 18704310; 18711316; 18718911; 18772333; 18780286; 18830406; 18842581; 18989526; 19032775; 19050264; 19057511; 19067769; 19074480; 19074849; 19112164; 19115247; 19131339; 19152168; 19245972; 19261809; 19276347; 19307156; 19307576; 19374776; 19426596; 19432968; 19435811; 19446747; 19467232; 19526316; 19724854; 19747485; 19765320; 19781349; 19786090; 19822898; 19833116; 19837667; 19837979; 19878561; 19885607; 19888474; 19913601; 19915002; 19940138; 20009530; 20016208; 20018936; 20053757; 20087343; 20121949; 20144677; 20190820; 20204305; 20348948; 20363028; 20372793; 20398657; 20403028; 20414733; 20448047; 20489156; 20506119; 20507991; 20578042; 20585888; 20621662; 20690147; 20811575; 20862322; 20864524; 20936779; 20945384; 21118966; 21160498; 21189327; 21212994; 21224049; 21297666; 21321112; 21325822; 21336263; 21354100; 21354147; 21365018; 21368226; 21419860; 21436631; 21479245; 21489990; 21506108; 21551235; 21596316; 21617851; 21688838; 21725089; 21743491; 21743958; 21791614; 21931594; 21968973; 21995436; 21998680; 22053691; 22095683; 22115966; 22127986; 22140445; 22198386; 22260630; 22316125; 22344601; 22354777; 22428032; 22431919; 22433566; 22455954; 22508482; 22531302; 22634339; 22659570; 22713211; 22721276; 22832523; 22878149; 22912725; 22918686; 23029358; 23103837; 23121767; 23127556; 23142458; 23152075; 23178451; 23363221; 23409769; 23416169; 23433111; 23468057; 23478574; 23592216; 23632636; 23696025; 23715767; 23718776; 23755764; 23857582; 23874821; 24076422; 24098051; 24106272 early growth response 1 Ensembl:ENSG00000120738 HGNC:3238 HPRD:00549 MIM:128990 Vega:OTTHUMG00000129197 Other designations: EGR-1|early growth response protein 1|nerve growth factor-induced protein A|transcription factor ETR103|transcription factor Zif268|zinc finger protein 225|zinc finger protein Krox-24 EGR1 Bin Zhao, Yue Liu, Oliver He FABPL L-FABP WEB: http://www.ncbi.nlm.nih.gov/gene FABP1 fatty acid binding protein 1, liver 2168 2p11 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0003682 (EC: IEA); GO_0005324 (EC: IEA); GO_0005504 (EC: IEA); GO_0005543 (EC: IEA); GO_0005654 (EC: TAS); GO_0005782 (EC: ISS); GO_0005829 (EC: IEA); GO_0008144 (EC: IEA); GO_0008284 (EC: IEA); GO_0016209 (EC: IDA, PMID: 16175609); GO_0032000 (EC: IEA); GO_0032052 (EC: IEA); GO_0043066 (EC: IDA, PMID: 16175609); GO_0043154 (EC: IDA, PMID: 16175609); GO_0044255 (EC: TAS); GO_0044281 (EC: TAS); GO_0045179 (EC: IEA); GO_0050892 (EC: IEA); GO_0051345 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867); GO_0070301 (EC: IDA, PMID: 16175609); GO_0071456 (EC: IDA, PMID: 16175609) PMID: 1699834; 2824476; 3012800; 3838309; 3838313; 7566098; 7784447; 8232272; 9070383; 9250612; 9688651; 10684629; 11226238; 11354243; 11461829; 12121132; 12477932; 12646418; 14563446; 15123239; 15249972; 15308127; 15342556; 15489334; 15547295; 16175609; 16249547; 16772708; 16945373; 17003471; 17428383; 17485234; 17526850; 17605029; 17698986; 17826730; 18094680; 18506375; 18624398; 18660489; 18838948; 18854154; 19019918; 19056867; 19217864; 19330863; 19435794; 19441025; 19499240; 19622156; 19913121; 20185732; 20416077; 20550918; 20575163; 20628086; 20721681; 21153750; 21356355; 21504508; 21757748; 21767383; 21856370; 21996226; 22396741; 22465531; 22515481; 22525507; 22640736; 23144966; 23167703; 23223350; 23291381; 23349979; 23599408; 23893635; 24299557 fatty acid binding protein 1, liver Ensembl:ENSG00000163586 HGNC:3555 HPRD:00612 MIM:134650 Vega:OTTHUMG00000130312 Other designations: fatty acid-binding protein 1|fatty acid-binding protein, liver|liver-type fatty acid-binding protein FABP1 Bin Zhao, Yue Liu, Oliver He FCE1A FcERI WEB: http://www.ncbi.nlm.nih.gov/gene FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 2205 RP11-550P17.3 1q23 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001812 (EC: IEA); GO_0001820 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: IEA); GO_0007257 (EC: IEA); GO_0009897 (EC: IEA); GO_0009986 (EC: IDA, PMID: 1535625); GO_0019370 (EC: IEA); GO_0019767 (EC: IEA); GO_0019863 (EC: IEA); GO_0038095 (EC: TAS); GO_0043306 (EC: IEA); GO_0045087 (EC: TAS); GO_0045401 (EC: IEA); GO_0045425 (EC: IEA); GO_0050731 (EC: IEA); GO_0050850 (EC: IEA) PMID: 1472946; 1533243; 1535625; 2146219; 2964640; 2967464; 8125119; 8245459; 8613143; 8752908; 8900182; 9103201; 10917520; 11409901; 11531339; 11776381; 12070183; 12200378; 12217383; 12270716; 12477932; 12646639; 12671054; 12855579; 12897750; 12902495; 13129935; 14655898; 14746805; 15140034; 15217825; 15373772; 15489334; 15562891; 15696081; 15743766; 16081836; 16237063; 16339523; 16459334; 16563391; 16581830; 16709862; 17125826; 17165285; 17192395; 17267694; 17430357; 17521040; 17541278; 17686114; 17703412; 17883736; 17903293; 17965580; 17993265; 18036650; 18179824; 18187193; 18321309; 18356810; 18382690; 18394141; 18523286; 18595682; 18680511; 18726713; 18846228; 19082920; 19141351; 19150851; 19164348; 19245427; 19258923; 19359220; 19372141; 19385959; 19423540; 19494509; 19514647; 19555572; 19685047; 19697153; 19748979; 20028371; 20117843; 20126404; 20141544; 20163202; 20237496; 20406964; 20410486; 20438785; 20503287; 20523060; 20603037; 20664273; 20691829; 21209833; 21216468; 21516097; 21622859; 21725845; 21738338; 21903095; 21958156; 21988832; 22075330; 22173243; 22222815; 22384272; 22800345; 22939635; 23251661; 23621092; 23725541; 23980848; 24361879 Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide Ensembl:ENSG00000179639 HGNC:3609 HPRD:00917 MIM:147140 Vega:OTTHUMG00000037176 Other designations: Fc IgE receptor, alpha polypeptide|Fc epsilon RI alpha-chain|Fc-epsilon RI-alpha|high affinity immunoglobulin epsilon receptor alpha-subunit|high affinity immunoglobulin epsilon receptor subunit alpha|igE Fc receptor subunit alpha|immunoglobulin E receptor, high-affinity, of mast cells, alpha polypeptide FCER1A Bin Zhao, Yue Liu, Oliver He APY ATOPY FCER1B FCERI IGEL IGER IGHER MS4A1 WEB: http://www.ncbi.nlm.nih.gov/gene MS4A2 membrane-spanning 4-domains, subfamily A, member 2 2206 11q12-q13 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0005768 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: NAS, PMID: 1535625); GO_0006954 (EC: IEA); GO_0006955 (EC: IMP, PMID: 7920628); GO_0007202 (EC: IEA); GO_0007205 (EC: IEA); GO_0009897 (EC: IEA); GO_0019863 (EC: IEA); GO_0019901 (EC: IEA); GO_0032998 (EC: IEA); GO_0038095 (EC: TAS); GO_0042169 (EC: IEA); GO_0043306 (EC: IEA); GO_0045087 (EC: TAS); GO_0045121 (EC: IEA); GO_0050663 (EC: IEA); GO_0051219 (EC: IEA); GO_0051279 (EC: IEA) PMID: 1386024; 1533242; 1535625; 2146219; 2448768; 7528770; 7612892; 7920628; 8071371; 8094113; 8188278; 8805698; 8817330; 8842731; 8968765; 8995445; 9169438; 9341761; 9379041; 11134951; 11142503; 11150000; 11245344; 11368631; 11447385; 11702205; 11758232; 12047428; 12082592; 12217393; 12393595; 12422339; 12477932; 12697656; 12753743; 12903039; 12919239; 14687477; 15087090; 15316148; 15453830; 15479187; 15489334; 15528387; 15953854; 16002993; 16344560; 16750991; 16839401; 16839402; 16867043; 17014622; 17088130; 17121586; 17178032; 17430357; 17686114; 17703412; 18269668; 18379861; 18534082; 18579528; 18691306; 18931892; 18949059; 18974840; 19028820; 19131662; 19218813; 19247692; 19258923; 19264973; 19288130; 19356729; 19416867; 19479237; 19514647; 19559392; 19796196; 19824886; 19862939; 19913121; 19948975; 20028371; 20085599; 20358027; 20395963; 20503287; 20536507; 20554927; 20628086; 20703737; 20716621; 21061265; 21832049; 22150093; 22845063; 23643722 membrane-spanning 4-domains, subfamily A, member 2 HGNC:7316 HPRD:00915 MIM:147138 Other designations: Fc fragment of IgE, high affinity I, receptor for; beta polypeptide|High affinity immunoglobulin epsilon receptor beta-subunit (FcERI) (IgE Fc receptor, beta-subunit) (Fc epsilon receptor I beta-chain)|high affinity IgE receptor beta subunit|high affinity immunoglobulin epsilon receptor subunit beta|igE Fc receptor subunit beta|immunoglobulin E receptor, high affinity, beta polypeptide MS4A2 Bin Zhao, Yue Liu, Oliver He CD16 CD16A FCG3 FCGR3 FCGRIII FCR-10 FCRIII FCRIIIA IGFR3 IMD20 WEB: http://www.ncbi.nlm.nih.gov/gene FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 2214 RP11-5K23.1 1q23 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005576 (EC: IEA); GO_0005886 (EC: TAS); GO_0006955 (EC: TAS, PMID: 2138330); GO_0009897 (EC: IDA, PMID: 10706735); GO_0016021 (EC: IEA); GO_0019864 (EC: IEA); GO_0038096 (EC: TAS); GO_0045087 (EC: TAS); GO_0050776 (EC: TAS) PMID: 2138330; 2139735; 2146219; 2478590; 2521732; 2525780; 2526846; 2967436; 7516890; 7543538; 7700021; 7819147; 7836402; 8125298; 8157290; 8189062; 8258691; 8405050; 8503991; 8609432; 8940055; 8945479; 9242542; 9276722; 9378963; 9743356; 10706735; 10961879; 11022771; 11027634; 11034564; 11037893; 11145038; 11229467; 11263776; 11359830; 11528518; 11696221; 11699473; 11722422; 11740730; 11756173; 11806974; 11808760; 11835346; 11850593; 11884455; 11895784; 11955599; 11986321; 12027254; 12036208; 12064825; 12121275; 12176802; 12379528; 12393699; 12445195; 12447772; 12477932; 12486608; 12492589; 12501257; 12618859; 12626795; 12631364; 12649399; 12710759; 12734884; 12756162; 12830330; 12834496; 12847896; 12858454; 12864991; 14526422; 14563637; 14597109; 14651519; 14740435; 14987319; 15037082; 15144186; 15152814; 15153543; 15188374; 15191947; 15194589; 15217834; 15269840; 15299021; 15457442; 15483014; 15526004; 15535834; 15659493; 15767342; 15778339; 15833371; 15910853; 15946259; 15998631; 16110781; 16133986; 16142749; 16160618; 16181633; 16221721; 16277670; 16310791; 16330541; 16344560; 16356189; 16542359; 16550341; 16609067; 16682723; 16709862; 16716162; 16846526; 16934243; 16981896; 17108815; 17202140; 17207965; 17265480; 17324336; 17335370; 17457599; 17475889; 17475906; 17523948; 17594928; 17596285; 17600378; 17606457; 17650444; 17652100; 17704420; 17710620; 17878347; 17899539; 17922423; 18050249; 18052703; 18174382; 18199088; 18347005; 18349392; 18372357; 18452102; 18475309; 18556407; 18565259; 18625651; 18636124; 18664531; 18715866; 18768831; 18768879; 18787406; 18804983; 18843786; 18930989; 18979096; 19005160; 19018870; 19019892; 19026120; 19100392; 19140833; 19164213; 19180470; 19221562; 19283441; 19309690; 19320901; 19333136; 19342628; 19493236; 19640933; 19672774; 19700393; 19758217; 19843059; 19892918; 19913121; 19933905; 19946017; 20018222; 20047592; 20059375; 20102624; 20137370; 20138184; 20149216; 20185670; 20207982; 20333387; 20379614; 20400988; 20418097; 20423913; 20439102; 20439936; 20508037; 20542180; 20550522; 20551103; 20553754; 20560817; 20628086; 20636398; 20644561; 20664961; 20697800; 20705761; 20707220; 20723308; 20730791; 20848524; 20884651; 20935224; 20980704; 21036743; 21042730; 21091537; 21091999; 21094802; 21129274; 21187939; 21191073; 21208440; 21270398; 21303362; 21339041; 21361908; 21541219; 21561106; 21657954; 21667346; 21760529; 21768335; 21785957; 21830210; 21832049; 21832933; 21883784; 21900198; 21924179; 21988832; 21999172; 22059994; 22123287; 22167032; 22180442; 22271896; 22290871; 22366323; 22366371; 22438420; 22496218; 22565545; 22613847; 22634259; 22885164; 22906996; 22914441; 22915639; 22955924; 22961048; 23006327; 23023090; 23024279; 23045477; 23046723; 23075294; 23114687; 23128233; 23171437; 23179144; 23249566; 23294992; 23316106; 23334594; 23376083; 23460612; 23480226; 23487023; 23509345; 23649770; 23680410; 23780683; 23851692; 23917248; 24008160; 24039173 Fc fragment of IgG, low affinity IIIa, receptor (CD16a) Ensembl:ENSG00000203747 HGNC:3619 HPRD:00903 MIM:146740 Vega:OTTHUMG00000034466 Other designations: CD16a antigen|Fc fragment of IgG, low affinity III, receptor for (CD16)|Fc gamma receptor III-A|Fc-gamma RIII-alpha|Fc-gamma RIIIa|Fc-gamma receptor III-2 (CD 16)|Fc-gamma receptor IIIb (CD16)|FcgammaRIIIA|fc-gamma RIII|igG Fc receptor III-2|immunoglobulin G Fc receptor III|low affinity immunoglobulin gamma Fc region receptor III-A|neutrophil-specific antigen NA FCGR3A Bin Zhao, Yue Liu, Oliver He CD16 CD16b FCG3 FCGR3 FCR-10 FCRIII FCRIIIb WEB: http://www.ncbi.nlm.nih.gov/gene FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 2215 RP11-25K21.3 1q23 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005576 (EC: IEA); GO_0005886 (EC: IEA); GO_0006955 (EC: TAS, PMID: 2139735); GO_0019864 (EC: IEA); GO_0031225 (EC: IEA) PMID: 2139735; 2521732; 2525780; 2526846; 2967436; 7836402; 8940055; 9028335; 9743356; 10917521; 11021536; 11034564; 11099670; 11359830; 11379895; 11528518; 11699473; 11740730; 11835346; 11897993; 12027254; 12064825; 12076295; 12115243; 12121275; 12176802; 12393699; 12421634; 12445195; 12447772; 12477932; 12486608; 12501257; 12710759; 12753656; 12830330; 12834496; 12839649; 12858454; 12864991; 12867584; 12898191; 14597109; 14634123; 14651519; 14740435; 14761117; 15152814; 15194589; 15245367; 15369725; 15457442; 15500735; 15526004; 15688433; 15713217; 15783303; 15833371; 15889368; 15910853; 15934433; 15946259; 15974849; 16110781; 16133986; 16155708; 16160618; 16171455; 16344560; 16356189; 16467081; 16482158; 16542359; 16550341; 16598772; 16805673; 16889631; 16899095; 17335370; 17523948; 17529978; 17584599; 17596285; 17710620; 17847104; 18052703; 18156711; 18372357; 18408222; 18452102; 18559452; 18843786; 19026120; 19100392; 19201911; 19218011; 19309690; 19317341; 19320901; 19342628; 19497711; 19502269; 19640933; 19720214; 19741716; 19892918; 19913121; 19946017; 19946035; 20041976; 20133350; 20149216; 20300756; 20356573; 20364047; 20367096; 20379614; 20439936; 20442749; 20472591; 20508037; 20536598; 20628086; 20664961; 20707220; 20720565; 20924590; 20957197; 20980704; 21109729; 21123174; 21227406; 21296850; 21818580; 21832933; 21895673; 21937707; 22167032; 22290871; 22309893; 22512913; 22551723; 22565545; 22770404; 22837109; 22942264; 22999728; 23049979; 23128233; 23261299; 23281059; 23398146; 23649770; 23778324; 23917248; 23935200 Fc fragment of IgG, low affinity IIIb, receptor (CD16b) Ensembl:ENSG00000162747 HGNC:3620 HPRD:09951 MIM:610665 Vega:OTTHUMG00000074099 Other designations: Fc-gamma receptor IIIb (CD 16)|fc-gamma RIII-beta|fc-gamma RIIIb|igG Fc receptor III-1|low affinity immunoglobulin gamma Fc region receptor III-B FCGR3B Bin Zhao, Yue Liu, Oliver He FCNM WEB: http://www.ncbi.nlm.nih.gov/gene FCN1 ficolin (collagen/fibrinogen domain containing) 1 2219 RP11-447M12.1 9q34 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0001867 (EC: TAS); GO_0003823 (EC: TAS, PMID: 8576206); GO_0005509 (EC: TAS, PMID: 8576206); GO_0005515 (EC: IPI, PMID: 17581635); GO_0005576 (EC: TAS); GO_0005581 (EC: IEA); GO_0006956 (EC: TAS); GO_0008228 (EC: TAS, PMID: 8576206); GO_0030246 (EC: TAS, PMID: 8576206); GO_0045087 (EC: TAS) PMID: 7686157; 8573080; 8576206; 8884275; 8947836; 9202708; 9777405; 10679061; 12477932; 12624729; 15117939; 15340161; 15489334; 16305643; 17148457; 17581635; 17928056; 17938215; 18029348; 18032536; 18343499; 19539995; 19741154; 19853918; 20032467; 20237496; 20375634; 20400674; 21037097; 21112665; 21490156; 21689722; 21974696; 22236007; 22391637; 22673311; 22941510; 23182717; 23184524; 23209787; 23817411; 24022747; 24161415 ficolin (collagen/fibrinogen domain containing) 1 Ensembl:ENSG00000085265 HGNC:3623 HPRD:03153 MIM:601252 Vega:OTTHUMG00000020895 Other designations: M-ficolin|collagen/fibrinogen domain-containing protein 1|ficolin (collagen/fibrinogen domain-containing) 1|ficolin-1|ficolin-A|ficolin-alpha FCN1 Bin Zhao, Yue Liu, Oliver He ACDMPV FKHL5 FREAC1 WEB: http://www.ncbi.nlm.nih.gov/gene FOXF1 forkhead box F1 2294 16q24 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0000122 (EC: IBA); GO_0001568 (EC: IMP, PMID: 19500772); GO_0001570 (EC: IEA); GO_0001701 (EC: IMP, PMID: 19500772); GO_0001756 (EC: IEA); GO_0001763 (EC: IMP, PMID: 19500772); GO_0002053 (EC: IEA); GO_0003197 (EC: IMP, PMID: 19500772); GO_0003214 (EC: IMP, PMID: 19500772); GO_0003677 (EC: IDA, PMID: 9769171); GO_0003690 (EC: IBA); GO_0003705 (EC: IBA); GO_0005634 (EC: IC, PMID: 9769171); GO_0005667 (EC: IBA); GO_0006366 (EC: IBA); GO_0007224 (EC: IEA); GO_0007368 (EC: IEA); GO_0007389 (EC: IBA); GO_0007494 (EC: IMP, PMID: 19500772); GO_0007507 (EC: IMP, PMID: 19500772); GO_0008134 (EC: IBA); GO_0008301 (EC: IBA); GO_0010811 (EC: IEA); GO_0014822 (EC: IEA); GO_0016337 (EC: IEA); GO_0030198 (EC: IEA); GO_0030323 (EC: IMP, PMID: 19500772); GO_0030324 (EC: IMP, PMID: 19500772); GO_0030335 (EC: IEA); GO_0031016 (EC: IMP, PMID: 19500772); GO_0043305 (EC: IEA); GO_0043565 (EC: ISS, PMID: 7957066); GO_0044212 (EC: IEA); GO_0045198 (EC: IEA); GO_0045893 (EC: IDA, PMID: 8626802); GO_0045944 (EC: IBA); GO_0048286 (EC: IEA); GO_0048371 (EC: IEA); GO_0048557 (EC: IMP, PMID: 19500772); GO_0048565 (EC: IMP, PMID: 19500772); GO_0048613 (EC: IMP, PMID: 19500772); GO_0048617 (EC: IEA); GO_0050728 (EC: IEA); GO_0051090 (EC: IBA); GO_0051145 (EC: IEA); GO_0051150 (EC: IEA); GO_0060426 (EC: IMP, PMID: 19500772); GO_0060438 (EC: IEA); GO_0060441 (EC: IEA); GO_0060446 (EC: IMP, PMID: 19500772); GO_0060461 (EC: IEA); GO_0060463 (EC: IEA); GO_0060841 (EC: IMP, PMID: 19500772); GO_0061030 (EC: IEA); GO_0071345 (EC: IEA); GO_0071407 (EC: IEA); GO_0072001 (EC: IMP, PMID: 19500772); GO_0072189 (EC: IMP, PMID: 19500772); GO_0090131 (EC: IEA); GO_0097070 (EC: IMP, PMID: 19500772) PMID: 7957066; 7959731; 8626802; 8825632; 9722567; 9769171; 12477932; 15489334; 16344560; 16448649; 16772323; 18564921; 19500772; 19822228; 19851296; 20145151; 20198315; 20233876; 20549505; 21271214; 21315191; 21964066; 22961001; 23034409; 23103611; 23322567; 23407133; 23504527; 23505205; 23563609 forkhead box F1 Ensembl:ENSG00000103241 HGNC:3809 HPRD:03053 MIM:601089 Vega:OTTHUMG00000137651 Other designations: FREAC-1|Forkhead, drosophila, homolog-like 5|forkhead box protein F1|forkhead-related activator 1|forkhead-related protein FKHL5|forkhead-related transcription factor 1 FOXF1 Bin Zhao, Yue Liu, Oliver He FKHL8 FREAC-4 FREAC4 WEB: http://www.ncbi.nlm.nih.gov/gene FOXD1 forkhead box D1 2297 5q12-q13 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0003677 (EC: IDA, PMID: 7957066); GO_0003700 (EC: IEA); GO_0005634 (EC: IC, PMID: 7957066); GO_0006351 (EC: IEA); GO_0008301 (EC: IDA, PMID: 7957066); GO_0010628 (EC: ISS); GO_0030513 (EC: ISS); GO_0043565 (EC: IDA, PMID: 7957066); GO_0045892 (EC: ISS); GO_0060678 (EC: ISS); GO_0072213 (EC: ISS); GO_0072267 (EC: ISS); GO_0090184 (EC: ISS) PMID: 7957066; 8702877; 8825632; 15492844; 15716278; 16585573; 19626042; 24099863 forkhead box D1 Ensembl:ENSG00000251493 HGNC:3802 HPRD:03055 MIM:601091 Vega:OTTHUMG00000162495 Other designations: Forkhead, drosophila, homolog-like 8|forkhead box protein D1|forkhead-like 8|forkhead-related activator 4|forkhead-related protein FKHL8|forkhead-related transcription factor 4 FOXD1 Bin Zhao, Yue Liu, Oliver He FKH10 FKHL10 FREAC-6 FREAC6 HFH-3 HFH3 WEB: http://www.ncbi.nlm.nih.gov/gene FOXI1 forkhead box I1 2299 5q34 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0003700 (EC: IDA, PMID: 19214237); GO_0005634 (EC: IC, PMID: 19214237); GO_0006351 (EC: IEA); GO_0008301 (EC: NAS, PMID: 7957066); GO_0009790 (EC: NAS, PMID: 7957066); GO_0042472 (EC: IEA); GO_0043565 (EC: ISS); GO_0044212 (EC: ISS); GO_0045944 (EC: IDA, PMID: 19214237) PMID: 7683413; 7957066; 8825632; 9153225; 12477932; 12695546; 15489334; 18564921; 19214237; 20301607; 20301640; 20621367; 20809947; 21145461; 21832049; 22412181; 23648065; 23965030 forkhead box I1 Ensembl:ENSG00000168269 HGNC:3815 HPRD:03057 MIM:601093 Vega:OTTHUMG00000130436 Other designations: HNF-3/fork-head homolog 3|HNF-3/fork-head homolog-3|forkhead box protein I1|forkhead-like 10|forkhead-related activator 6|forkhead-related protein FKHL10|forkhead-related transcription factor 6|hepatocyte nuclear factor 3 forkhead homolog 3 FOXI1 Bin Zhao, Yue Liu, Oliver He FLT FLT-1 VEGFR-1 VEGFR1 WEB: http://www.ncbi.nlm.nih.gov/gene FLT1 fms-related tyrosine kinase 1 2321 13q12 20140408 9606 13 protein-coding Official from a nomenclature committee GO_0001569 (EC: IEA); GO_0002040 (EC: IEA); GO_0002548 (EC: IDA, PMID: 18079407); GO_0004714 (EC: TAS, PMID: 8248162); GO_0005021 (EC: IDA, PMID: 1312256); GO_0005021 (EC: IMP, PMID: 11312102); GO_0005515 (EC: IPI, PMID: 10543948); GO_0005524 (EC: IEA); GO_0005615 (EC: TAS, PMID: 8248162); GO_0005768 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: IDA, PMID: 11513746); GO_0007169 (EC: TAS, PMID: 2158038); GO_0008284 (EC: TAS, PMID: 10748050); GO_0010863 (EC: IMP, PMID: 11312102); GO_0014068 (EC: IMP, PMID: 14633857); GO_0016477 (EC: IMP, PMID: 8605350); GO_0018108 (EC: IDA, PMID: 11513746); GO_0019838 (EC: IPI, PMID: 10471394); GO_0030154 (EC: IEA); GO_0030335 (EC: IDA, PMID: 8605350); GO_0030949 (EC: IDA, PMID: 1312256); GO_0035924 (EC: IDA, PMID: 8605350); GO_0036323 (EC: IDA, PMID: 15952180); GO_0036326 (EC: IDA, PMID: 8605350); GO_0036327 (EC: IDA, PMID: 15952180); GO_0036332 (EC: IDA, PMID: 12796773); GO_0042802 (EC: IEA); GO_0043235 (EC: IDA); GO_0043406 (EC: IDA, PMID: 9299537); GO_0043410 (EC: IDA, PMID: 9299537); GO_0043552 (EC: IMP, PMID: 11312102); GO_0045766 (EC: IMP, PMID: 14633857); GO_0046777 (EC: IDA, PMID: 11513746); GO_0048010 (EC: IDA, PMID: 9299537); GO_0048010 (EC: IMP, PMID: 11312102); GO_0048010 (EC: TAS); GO_0048514 (EC: ISS); GO_0048598 (EC: ISS) PMID: 1312256; 2158038; 3040650; 3115921; 7657594; 7707437; 8111406; 8126087; 8248162; 8605350; 8621427; 9256359; 9269752; 9299537; 9393862; 9398617; 9452434; 9472937; 9600074; 9722576; 9751730; 9931493; 9973224; 10194760; 10409677; 10471394; 10543948; 10579917; 10585578; 10642585; 10737800; 10738243; 10748050; 10749680; 10842181; 10865839; 11056124; 11134362; 11157498; 11278319; 11289156; 11312102; 11513746; 11693202; 11741094; 11751905; 11806246; 11807987; 11811792; 11824379; 11839635; 11852061; 11862609; 11877075; 11908876; 11953105; 11986954; 12023386; 12091880; 12107410; 12133473; 12366396; 12406876; 12426207; 12439912; 12477932; 12509223; 12543719; 12607599; 12651930; 12670505; 12727995; 12796773; 12810700; 12824880; 12865438; 12920240; 12949011; 14512169; 14585871; 14600159; 14602804; 14607815; 14633857; 14654077; 14674128; 14684734; 14687619; 14702039; 14760936; 14967383; 14996703; 15135240; 15160911; 15166498; 15183893; 15272021; 15284201; 15329326; 15472115; 15489334; 15492987; 15503825; 15589171; 15610240; 15610528; 15649874; 15665766; 15705187; 15711751; 15735759; 15817508; 15817662; 15886253; 15952180; 16005848; 16021053; 16021077; 16095053; 16109918; 16169405; 16248895; 16249383; 16251410; 16286478; 16341007; 16344560; 16375118; 16432214; 16488907; 16496302; 16530326; 16616080; 16671089; 16685275; 16786116; 16835828; 16959214; 16968555; 17013089; 17051153; 17071533; 17088944; 17109193; 17118734; 17189520; 17197602; 17210583; 17242190; 17259514; 17287067; 17336974; 17379761; 17409768; 17486129; 17507435; 17550303; 17562275; 17570036; 17599955; 17615362; 17633783; 17661207; 17696935; 17722983; 17891484; 17956952; 17956955; 17964871; 17975225; 17982238; 18006819; 18029348; 18037256; 18053608; 18079407; 18097592; 18175241; 18175242; 18264952; 18284215; 18287964; 18295763; 18304425; 18315732; 18317954; 18330824; 18332870; 18343373; 18356031; 18374411; 18379030; 18421240; 18443354; 18451223; 18515749; 18566400; 18566591; 18593464; 18598002; 18604718; 18609713; 18625704; 18627789; 18631405; 18636124; 18639520; 18656381; 18665074; 18691902; 18694994; 18771978; 18779584; 18789115; 18829111; 18931684; 18936439; 18974372; 18975312; 18992679; 18996083; 19003637; 19020728; 19039203; 19064815; 19066962; 19068081; 19082506; 19103251; 19135290; 19147226; 19162007; 19165674; 19180491; 19200976; 19261502; 19269632; 19287991; 19302266; 19324337; 19330612; 19336504; 19350449; 19351908; 19352513; 19385972; 19409555; 19412349; 19452502; 19453261; 19501525; 19528353; 19564559; 19608702; 19631980; 19633424; 19658040; 19701853; 19707156; 19716155; 19718025; 19720604; 19734545; 19741061; 19811263; 19816083; 19816604; 19834490; 19850021; 19860625; 19883397; 19895348; 19913121; 19919522; 19936766; 19948974; 19953087; 20007583; 20015944; 20026801; 20030917; 20103598; 20103604; 20124108; 20149032; 20158393; 20164029; 20169144; 20179233; 20199197; 20222950; 20223440; 20350647; 20395257; 20422012; 20428821; 20452482; 20453000; 20484670; 20488538; 20491879; 20501651; 20512933; 20515481; 20571438; 20602615; 20615131; 20628086; 20635108; 20661303; 20666936; 20673868; 20674013; 20695190; 20706192; 20805333; 20828367; 20842453; 20854187; 20873967; 20948996; 21050477; 21062661; 21097568; 21115742; 21139021; 21168388; 21209384; 21212275; 21212411; 21219538; 21286681; 21300889; 21334711; 21336717; 21343372; 21345006; 21349629; 21371321; 21376261; 21381877; 21382012; 21389678; 21389833; 21415391; 21447646; 21448460; 21487788; 21496870; 21518965; 21524919; 21532145; 21534854; 21544626; 21555675; 21568945; 21585639; 21612582; 21642504; 21652578; 21709213; 21715541; 21751212; 21827221; 21867402; 21939291; 21939755; 21962138; 21978169; 22000672; 22003089; 22016416; 22034638; 22082645; 22095559; 22147121; 22153185; 22173504; 22177802; 22178822; 22203927; 22203933; 22230112; 22246525; 22264588; 22294840; 22315135; 22348624; 22357551; 22385323; 22386962; 22427682; 22438952; 22484977; 22487430; 22528855; 22541785; 22555639; 22558992; 22581286; 22609636; 22690749; 22718299; 22729710; 22734007; 22819145; 22828632; 22836649; 22902831; 22955733; 22962618; 23030842; 23038639; 23059888; 23113309; 23140147; 23172303; 23190621; 23195033; 23239021; 23250775; 23339636; 23364394; 23400753; 23415672; 23420665; 23437230; 23475388; 23503608; 23580180; 23602568; 23620752; 23645683; 23645757; 23704979; 23711375; 23716179; 23725155; 23737988; 23748230; 23749886; 23774235; 23799140; 23799978; 23831629; 23902770; 23912175; 24166749; 24340742; 24341227; 24400721 fms-related tyrosine kinase 1 Ensembl:ENSG00000102755 HGNC:3763 HPRD:01297 MIM:165070 Vega:OTTHUMG00000016648 Other designations: fms-like tyrosine kinase 1|fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)|tyrosine-protein kinase FRT|tyrosine-protein kinase receptor FLT|vascular endothelial growth factor receptor 1|vascular permeability factor receptor FLT1 Bin Zhao, Yue Liu, Oliver He CD135 FLK-2 FLK2 STK1 WEB: http://www.ncbi.nlm.nih.gov/gene FLT3 fms-related tyrosine kinase 3 2322 RP11-153M24.3 13q12 20140408 9606 13 protein-coding Official from a nomenclature committee GO_0001776 (EC: ISS); GO_0002318 (EC: ISS); GO_0002328 (EC: ISS); GO_0002572 (EC: IEA); GO_0004714 (EC: TAS, PMID: 19549778); GO_0004896 (EC: ISS); GO_0005021 (EC: TAS, PMID: 8394751); GO_0005515 (EC: IPI, PMID: 16982329); GO_0005524 (EC: IEA); GO_0005788 (EC: IEA); GO_0005887 (EC: TAS, PMID: 8394751); GO_0007169 (EC: TAS, PMID: 7507245); GO_0008284 (EC: TAS, PMID: 19549778); GO_0008285 (EC: IEA); GO_0009986 (EC: IEA); GO_0014068 (EC: TAS, PMID: 12951584); GO_0018108 (EC: TAS, PMID: 19549778); GO_0019221 (EC: ISS); GO_0030097 (EC: IDA, PMID: 7507245); GO_0030183 (EC: ISS); GO_0035726 (EC: ISS); GO_0038084 (EC: TAS, PMID: 8394751); GO_0042531 (EC: TAS, PMID: 19549778); GO_0042803 (EC: TAS, PMID: 19549778); GO_0042981 (EC: TAS, PMID: 19549778); GO_0043406 (EC: TAS, PMID: 19549778); GO_0043410 (EC: TAS, PMID: 19549778); GO_0043548 (EC: IEA); GO_0043552 (EC: TAS, PMID: 12951584); GO_0045578 (EC: IEA); GO_0046651 (EC: ISS); GO_0046777 (EC: TAS, PMID: 19549778); GO_0071345 (EC: ISS); GO_0071345 (EC: TAS, PMID: 19549778); GO_0097028 (EC: ISS) PMID: 2004790; 7505204; 7507245; 7692230; 7789184; 8394751; 8946930; 9614102; 9651358; 9918857; 10022833; 10080542; 10409713; 10482988; 10698507; 11027663; 11091200; 11133746; 11290608; 11442493; 11535508; 11971190; 11983110; 12036858; 12060771; 12070009; 12239146; 12239147; 12384447; 12393674; 12468433; 12468438; 12477932; 12481903; 12676789; 12681969; 12691136; 12816873; 12842996; 12854887; 12926083; 12935959; 12951584; 12969963; 14504097; 14562119; 14604974; 14630076; 14654525; 14670924; 14737077; 14759363; 14977832; 14981546; 14982881; 15044257; 15054042; 15059064; 15061200; 15150124; 15166029; 15167911; 15178581; 15242879; 15253381; 15289019; 15345593; 15352981; 15363457; 15574429; 15583855; 15604885; 15604894; 15645287; 15650056; 15674343; 15710585; 15769897; 15770067; 15778081; 15781338; 15797998; 15831474; 15863200; 15902284; 15921740; 15959528; 15973451; 15978940; 15996732; 16015387; 16029447; 16046528; 16076867; 16116483; 16185475; 16213360; 16234090; 16263569; 16263793; 16320249; 16326981; 16368883; 16410383; 16410449; 16502586; 16517725; 16533526; 16598313; 16642044; 16684964; 16809615; 16861351; 16949153; 16982329; 16990784; 16990788; 17036374; 17056111; 17064989; 17105820; 17128418; 17222369; 17229632; 17230226; 17268528; 17312001; 17387224; 17442779; 17446348; 17456725; 17485549; 17498302; 17550846; 17579862; 17584026; 17598835; 17606455; 17620055; 17650443; 17668209; 17690703; 17708786; 17708787; 17708788; 17763464; 17851551; 17851558; 17881645; 17881646; 17910045; 17936561; 17939400; 17940205; 17943971; 17957027; 17965322; 17972951; 17983653; 18024405; 18024407; 18067018; 18067020; 18068628; 18071308; 18081718; 18096476; 18156731; 18184863; 18192111; 18192505; 18261272; 18270328; 18303245; 18305215; 18309032; 18336585; 18343790; 18394702; 18450602; 18464120; 18473998; 18483393; 18490735; 18503825; 18559874; 18605083; 18641025; 18670883; 18755984; 18797870; 18925699; 18955790; 18977345; 19016763; 19052976; 19052993; 19059939; 19085113; 19141860; 19144660; 19151774; 19176010; 19176014; 19181379; 19181784; 19204327; 19221039; 19236740; 19279329; 19296110; 19309322; 19330068; 19345670; 19351817; 19395028; 19411632; 19438505; 19464057; 19466291; 19529981; 19536888; 19540337; 19540590; 19549778; 19557552; 19562748; 19602710; 19603346; 19635202; 19637342; 19665070; 19672946; 19684517; 19698218; 19700852; 19765320; 19773259; 19775300; 19808698; 19824900; 19840437; 19853583; 19865112; 19878996; 19913121; 19915372; 19921191; 19934300; 19956635; 19965647; 19968062; 19995225; 20001230; 20018615; 20023256; 20031210; 20035824; 20039765; 20066533; 20096459; 20098747; 20119833; 20133893; 20137111; 20159992; 20172040; 20182906; 20201926; 20212254; 20237506; 20302766; 20354824; 20368469; 20368538; 20376086; 20379614; 20439648; 20504356; 20508617; 20513120; 20514303; 20515557; 20520634; 20525753; 20546020; 20548095; 20571062; 20592250; 20628086; 20651067; 20656931; 20670134; 20678218; 20693296; 20740398; 20800603; 20803351; 20807885; 20815269; 20861915; 20872983; 20875128; 20875872; 20880116; 20959405; 20966504; 20981678; 21048955; 21067377; 21067588; 21114537; 21114781; 21129033; 21133602; 21148331; 21173125; 21176335; 21180092; 21233836; 21242187; 21245599; 21245757; 21262971; 21269566; 21332708; 21338238; 21357706; 21387358; 21389326; 21453545; 21487043; 21516120; 21516736; 21520003; 21523727; 21523728; 21527514; 21537333; 21552520; 21589872; 21606167; 21621842; 21674859; 21685470; 21696826; 21744003; 21767516; 21768087; 21789382; 21820407; 21859732; 21860418; 21890473; 21907407; 21967978; 22044003; 22050655; 22084166; 22096027; 22099191; 22104247; 22126574; 22126602; 22129478; 22132874; 22208491; 22210879; 22261446; 22291086; 22343664; 22354205; 22368270; 22374696; 22378655; 22421058; 22422053; 22438257; 22454318; 22458420; 22481022; 22487825; 22494415; 22514634; 22532519; 22562027; 22591177; 22605576; 22674490; 22684224; 22705992; 22721497; 22733614; 22736495; 22751451; 22807997; 22858906; 22858909; 22875611; 22911473; 22914610; 22952242; 22972921; 22996295; 23009217; 23017497; 23040356; 23082484; 23086275; 23115106; 23124877; 23127761; 23135354; 23154527; 23167317; 23167384; 23190472; 23238897; 23246379; 23276395; 23300935; 23321254; 23335073; 23340802; 23359050; 23377000; 23377436; 23430109; 23431389; 23479570; 23480665; 23508117; 23511494; 23548639; 23567961; 23584564; 23590662; 23603912; 23613521; 23650535; 23666693; 23722894; 23774633; 23783394; 23840454; 23878140; 23906301; 23907410; 23929599; 23982978; 24268349; 24282218 fms-related tyrosine kinase 3 Ensembl:ENSG00000122025 HGNC:3765 HPRD:00635 MIM:136351 Vega:OTTHUMG00000016646 Other designations: CD135 antigen|FL cytokine receptor|STK-1|fetal liver kinase 2|fms-like tyrosine kinase 3|growth factor receptor tyrosine kinase type III|receptor-type tyrosine-protein kinase FLT3|stem cell tyrosine kinase 1 FLT3 Bin Zhao, Yue Liu, Oliver He CIG ED-B FINC FN FNZ GFND GFND2 LETS MSF WEB: http://www.ncbi.nlm.nih.gov/gene FN1 fibronectin 1 2335 2q34 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0001525 (EC: IEA); GO_0002020 (EC: IPI); GO_0002576 (EC: TAS); GO_0005178 (EC: IDA, PMID: 19738201); GO_0005515 (EC: IPI, PMID: 10627046); GO_0005518 (EC: NAS, PMID: 3024962); GO_0005576 (EC: NAS, PMID: 14718574); GO_0005576 (EC: TAS); GO_0005577 (EC: IDA, PMID: 3997886); GO_0005604 (EC: IEA); GO_0005615 (EC: IDA); GO_0005793 (EC: IDA, PMID: 15308636); GO_0006953 (EC: IEA); GO_0007044 (EC: IEA); GO_0007155 (EC: NAS, PMID: 1423622); GO_0007161 (EC: IEA); GO_0007596 (EC: TAS); GO_0008201 (EC: NAS, PMID: 10075919); GO_0008360 (EC: IEA); GO_0009611 (EC: NAS, PMID: 7989369); GO_0016324 (EC: IEA); GO_0016504 (EC: IEA); GO_0018149 (EC: IDA, PMID: 3997886); GO_0022617 (EC: TAS); GO_0030168 (EC: TAS); GO_0030198 (EC: TAS); GO_0031012 (EC: IDA, PMID: 16157329); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0031012 (EC: ISS, Qualifier: colocalizes_with); GO_0031093 (EC: TAS); GO_0034446 (EC: IDA, PMID: 16236823); GO_0050900 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867); GO_0072562 (EC: IDA) PMID: 444675; 1311202; 1372909; 1400330; 1409674; 1423622; 1468447; 1532572; 1632457; 1694173; 1730778; 1875953; 1959621; 2012601; 2138612; 2229073; 2414772; 2531657; 2745554; 2822387; 2867902; 2989004; 2992573; 2992939; 3003095; 3021206; 3024962; 3031656; 3375063; 3478690; 3593230; 3770189; 3770201; 3900070; 3943369; 3988746; 3997552; 3997886; 4019516; 6092370; 6200322; 6304699; 6462919; 6630202; 6688418; 6693419; 6981115; 7050098; 7493623; 7499434; 7500359; 7519849; 7559467; 7583666; 7690138; 7963647; 7989369; 8063866; 8120056; 8120888; 8168508; 8173552; 8308892; 8360181; 8449034; 8468356; 8548820; 8599839; 8663002; 8756760; 8798654; 8905624; 8952048; 8997243; 8997639; 9016396; 9117345; 9169408; 9211865; 9334230; 9339851; 9361795; 9443108; 9501082; 9514732; 9626063; 9636140; 9651579; 9733622; 9751722; 9837825; 10075919; 10196121; 10451539; 10464263; 10470078; 10470109; 10627046; 10647176; 10706716; 10772816; 10783396; 10823831; 10848816; 11010812; 11023498; 11024059; 11134254; 11149921; 11157741; 11180285; 11276204; 11285119; 11285216; 11311202; 11342427; 11344214; 11419941; 11423128; 11423542; 11493006; 11500098; 11605051; 11686302; 11737888; 11751853; 11752017; 11768240; 11773026; 11775745; 11795204; 11801638; 11801679; 11829448; 11832485; 11847210; 11864705; 11867580; 11867643; 11891225; 11928812; 11937267; 11956183; 11960984; 11981027; 11997396; 12034705; 12069579; 12091360; 12100475; 12105189; 12119020; 12119179; 12127832; 12127836; 12149247; 12180907; 12225805; 12225811; 12270980; 12388756; 12401883; 12468382; 12477932; 12486316; 12497612; 12527107; 12535082; 12538453; 12538576; 12621118; 12631068; 12736686; 12761244; 12802498; 12810082; 12902636; 12917446; 14558920; 14602715; 14645245; 14662883; 14695199; 14702039; 14709558; 14718574; 14737076; 14760718; 15060148; 15161923; 15165854; 15174051; 15213410; 15231748; 15247227; 15265957; 15308636; 15331608; 15331737; 15384859; 15456495; 15456743; 15467744; 15485890; 15609325; 15645125; 15652337; 15699160; 15717924; 15721303; 15799029; 15806100; 15835821; 15855153; 15890670; 15912204; 15961545; 16005629; 16055535; 16083879; 16091757; 16106752; 16150826; 16157329; 16159961; 16236823; 16277979; 16322219; 16335952; 16336961; 16375583; 16378831; 16463680; 16495290; 16498633; 16581250; 16621928; 16757476; 16839338; 16928957; 16933105; 16978691; 16982604; 16984808; 16986166; 17003032; 17015452; 17027088; 17081983; 17136547; 17187346; 17266699; 17273763; 17416372; 17425334; 17459242; 17468934; 17490871; 17512904; 17526550; 17554369; 17596138; 17636193; 17704536; 17879163; 17929131; 17949711; 18006840; 18042364; 18064631; 18083324; 18268355; 18276110; 18313373; 18323857; 18332212; 18334936; 18340378; 18343220; 18348696; 18451110; 18451144; 18474427; 18499669; 18577581; 18624398; 18633626; 18690341; 18713862; 18716775; 18776591; 18801363; 18810851; 18824166; 18829569; 18957516; 18958156; 19020673; 19031824; 19037100; 19056867; 19094228; 19160003; 19161998; 19212764; 19224684; 19251642; 19342448; 19345424; 19391127; 19404402; 19417080; 19460753; 19471022; 19541353; 19542224; 19553700; 19564406; 19581300; 19616291; 19617627; 19701604; 19701759; 19730683; 19738201; 19760097; 19821053; 19834535; 19847669; 19880379; 19893244; 19893454; 19903114; 19913121; 19914350; 19935699; 20007695; 20012564; 20029029; 20043904; 20097172; 20097751; 20145126; 20161770; 20201928; 20210243; 20232238; 20357207; 20359090; 20364278; 20403349; 20419094; 20452482; 20463177; 20470202; 20484935; 20489157; 20495339; 20505078; 20506163; 20530259; 20552237; 20600851; 20628086; 20628340; 20628624; 20638438; 20643357; 20670094; 20671107; 20672308; 20672350; 20673868; 20686611; 20708078; 20725648; 20811396; 20814177; 20819642; 20851879; 20860816; 20939933; 21036168; 21036738; 21078624; 21098633; 21131589; 21138686; 21139048; 21148425; 21150319; 21160032; 21178109; 21190414; 21224775; 21311138; 21325030; 21330459; 21347378; 21429937; 21472136; 21508391; 21573010; 21630266; 21691075; 21768108; 21824169; 21840989; 21861843; 21876142; 21890473; 21924268; 21942715; 21961600; 21969082; 21980357; 21988832; 22009740; 22048274; 22219202; 22241990; 22319020; 22339947; 22351755; 22378065; 22496919; 22514602; 22523280; 22531343; 22586326; 22641031; 22674303; 22699679; 22705941; 22716248; 22782528; 22837202; 22848537; 22896658; 22918248; 22919069; 22936677; 23029023; 23056244; 23098431; 23116545; 23142796; 23170788; 23201264; 23201304; 23217101; 23238252; 23251222; 23288153; 23315067; 23341464; 23485472; 23509360; 23593224; 23612019; 23622001; 23643164; 23653350; 23653354; 23684510; 23740248; 23750785; 23763354; 23765377; 23791940; 23811340; 23872359; 23884219; 23908593; 23921871; 24030464; 24070235 fibronectin 1 Ensembl:ENSG00000115414 HGNC:3778 HPRD:00626 MIM:135600 Vega:OTTHUMG00000133054 Other designations: cold-insoluble globulin|fibronectin|migration-stimulating factor FN1 Bin Zhao, Yue Liu, Oliver He AP-1 C-FOS p55 WEB: http://www.ncbi.nlm.nih.gov/gene FOS FBJ murine osteosarcoma viral oncogene homolog 2353 14q24.3 20140408 9606 14 protein-coding Official from a nomenclature committee GO_0001661 (EC: IEA); GO_0002224 (EC: TAS); GO_0002755 (EC: TAS); GO_0002756 (EC: TAS); GO_0003690 (EC: IEA); GO_0003700 (EC: IDA, PMID: 9732876); GO_0005515 (EC: IPI, PMID: 16511568); GO_0005634 (EC: IDA); GO_0005654 (EC: TAS); GO_0005667 (EC: IEA); GO_0005730 (EC: IDA, Qualifier: NOT); GO_0005783 (EC: IEA); GO_0005829 (EC: IEA); GO_0006306 (EC: TAS, PMID: 9888853); GO_0006357 (EC: TAS, PMID: 10918580); GO_0006366 (EC: IEA); GO_0006954 (EC: TAS, PMID: 9443941); GO_0007179 (EC: IDA, PMID: 9732876); GO_0007399 (EC: IEA); GO_0007565 (EC: IEA); GO_0007568 (EC: IEA); GO_0008134 (EC: IEA); GO_0009409 (EC: IEA); GO_0009416 (EC: IEA); GO_0009612 (EC: IEA); GO_0009629 (EC: IEA); GO_0009636 (EC: IEA); GO_0016020 (EC: IEA); GO_0030431 (EC: IEA); GO_0031668 (EC: IEA); GO_0032496 (EC: IEA); GO_0032570 (EC: IEA); GO_0032870 (EC: IEA); GO_0034097 (EC: IEA); GO_0034134 (EC: TAS); GO_0034138 (EC: TAS); GO_0034142 (EC: TAS); GO_0034146 (EC: TAS); GO_0034162 (EC: TAS); GO_0034166 (EC: TAS); GO_0034614 (EC: IDA, PMID: 17217916); GO_0035666 (EC: TAS); GO_0035914 (EC: IEA); GO_0038095 (EC: TAS); GO_0038123 (EC: TAS); GO_0038124 (EC: TAS); GO_0042493 (EC: IEA); GO_0043005 (EC: IEA); GO_0043565 (EC: IEA); GO_0044212 (EC: IDA, PMID: 9732876); GO_0045087 (EC: TAS); GO_0045672 (EC: IEA); GO_0045893 (EC: IDA, PMID: 9732876); GO_0045944 (EC: IEA); GO_0051090 (EC: TAS); GO_0051403 (EC: TAS); GO_0051412 (EC: IEA); GO_0051591 (EC: IEA); GO_0060395 (EC: IDA, PMID: 9732876); GO_0070412 (EC: IPI, PMID: 9732876); GO_0071277 (EC: IEA) PMID: 1406655; 1545828; 1589769; 1631061; 1658710; 1827203; 1828107; 1903538; 2414012; 2511004; 2516827; 3027573; 3555978; 3817017; 6574479; 7540136; 7623830; 7642615; 7665092; 7685215; 7713192; 7816143; 7816602; 7957556; 7962462; 7994752; 8065335; 8108109; 8151786; 8248197; 8380166; 8397339; 8440710; 8475068; 8480425; 8524278; 8557686; 8570175; 8621941; 8628277; 8710853; 8737385; 8763994; 8816797; 8816798; 8904195; 8971979; 9057648; 9121455; 9129988; 9130707; 9160889; 9207128; 9334186; 9346889; 9443941; 9468519; 9488446; 9510247; 9545246; 9642216; 9671405; 9681824; 9685505; 9732876; 9792677; 9872330; 9888853; 9918847; 10027715; 10330159; 10388555; 10488148; 10497212; 10523647; 10567391; 10581001; 10764760; 10777532; 10799874; 10847592; 10918580; 11053448; 11090181; 11134330; 11260070; 11274169; 11278640; 11397794; 11397816; 11431474; 11641401; 11782371; 11846562; 11891317; 11909859; 11983170; 12052862; 12082260; 12127989; 12147741; 12183893; 12193410; 12419805; 12445807; 12446585; 12477932; 12508121; 12547826; 12592382; 12600988; 12687275; 12692226; 12705898; 12788789; 12949493; 12972619; 14511403; 14517309; 14522952; 14629301; 14702039; 14727154; 14741347; 14966901; 15175153; 15188457; 15258149; 15262961; 15276183; 15319445; 15489334; 15507668; 15530430; 15548518; 15588513; 15610731; 15654976; 15708845; 15718494; 15767669; 15835820; 15844599; 15867431; 15921770; 15926923; 15950906; 15994313; 16001969; 16023595; 16038047; 16049073; 16055710; 16123044; 16219292; 16236267; 16243842; 16452503; 16511568; 16552729; 16637060; 16690925; 16714286; 16828227; 16928824; 17018293; 17080554; 17160021; 17182779; 17203973; 17209045; 17217916; 17226766; 17235455; 17317669; 17440114; 17495958; 17549045; 17606925; 17636030; 17639289; 17681951; 17703412; 17709345; 17888430; 17915561; 17926144; 18029348; 18032824; 18042260; 18097055; 18158562; 18206243; 18252863; 18283312; 18305042; 18309110; 18316037; 18368600; 18405916; 18422165; 18425349; 18467434; 18500346; 18511550; 18597608; 18599327; 18621151; 18641127; 18644870; 18653705; 18676680; 18725194; 18802113; 18826606; 18838675; 18854825; 18923650; 18957410; 18986987; 19009649; 19013323; 19015316; 19022561; 19028685; 19064921; 19105933; 19135542; 19151755; 19170196; 19199093; 19215067; 19258923; 19269029; 19299513; 19329434; 19384981; 19453261; 19471022; 19495976; 19513521; 19557575; 19581295; 19597476; 19625176; 19692168; 19714312; 19795350; 19859790; 19874574; 19913121; 19921846; 19937979; 19959471; 20012528; 20042607; 20089855; 20195357; 20203690; 20209053; 20336670; 20398657; 20410304; 20459032; 20463008; 20468064; 20493519; 20503287; 20531301; 20619839; 20628086; 20628624; 20682178; 20726226; 20869948; 20936779; 20976196; 21034562; 21106746; 21163924; 21303932; 21340718; 21385848; 21423810; 21496113; 21496208; 21607373; 21655091; 21675959; 21693764; 21732357; 21757709; 21822357; 21829441; 21900206; 21920361; 21937452; 21975339; 21978922; 21988832; 22076613; 22077140; 22105363; 22108803; 22308434; 22354777; 22474330; 22528769; 22534624; 22537850; 22546605; 22699663; 22719067; 22772468; 23001723; 23121125; 23128233; 23135283; 23209736; 23301044; 23331079; 23400877; 23418787; 23494858; 23562910; 23593403; 23595228; 23602568; 23614275; 23625009; 23625206; 23661758; 23667255; 23744317; 23844083; 23919306; 24220339 FBJ murine osteosarcoma viral oncogene homolog Ensembl:ENSG00000170345 HGNC:3796 HPRD:01275 MIM:164810 Vega:OTTHUMG00000171774 Other designations: FBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS)|G0/G1 switch regulatory protein 7|activator protein 1|cellular oncogene c-fos|proto-oncogene c-Fos FOS Bin Zhao, Yue Liu, Oliver He FMLP FPR WEB: http://www.ncbi.nlm.nih.gov/gene FPR1 formyl peptide receptor 1 2357 19q13.4 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0000187 (EC: TAS, PMID: 10857861); GO_0004872 (EC: TAS, PMID: 10857861); GO_0004982 (EC: IDA, PMID: 12218158); GO_0005515 (EC: IPI); GO_0005768 (EC: TAS, PMID: 10823817); GO_0005886 (EC: TAS); GO_0006928 (EC: TAS, PMID: 10882119); GO_0006935 (EC: IEA); GO_0007165 (EC: TAS, PMID: 10820279); GO_0007186 (EC: TAS, PMID: 10823817); GO_0007188 (EC: TAS, PMID: 10889468); GO_0007200 (EC: IDA); GO_0007263 (EC: TAS, PMID: 10861041); GO_0016021 (EC: IEA); GO_0050786 (EC: IEA) PMID: 1322204; 1373134; 1445895; 1612600; 1712023; 2161213; 2176894; 2541200; 2834384; 6129903; 7836371; 7945424; 7947984; 8224916; 8228254; 8663057; 10514456; 10753626; 10820279; 10823817; 10857861; 10861041; 10882119; 10889468; 11023526; 11559706; 11860029; 12218158; 12410796; 12424254; 12477932; 12565836; 12595898; 12902510; 15057824; 15187149; 15195697; 15258259; 15489334; 15625007; 15661400; 15866865; 15928303; 16002663; 16038804; 16114510; 16253958; 16530386; 16675446; 16953235; 17234990; 17267694; 17442310; 17452560; 17692291; 17927965; 18056353; 18060741; 18253729; 18577758; 18952127; 19037090; 19167353; 19254133; 19414538; 19530962; 19722801; 19843937; 19892918; 20019777; 20056178; 20197768; 20237496; 20930115; 21144844; 21216225; 21254404; 21372136; 21921027; 22005393; 22094028; 22174875; 22768936; 23012360; 23147350; 23185575; 23238745; 23373827; 23562731; 23873933 formyl peptide receptor 1 HGNC:3826 HPRD:00646 MIM:136537 Other designations: N-formylpeptide chemoattractant receptor|fMLP receptor|fMet-Leu-Phe receptor FPR1 Bin Zhao, Yue Liu, Oliver He LFTD NBIA3 WEB: http://www.ncbi.nlm.nih.gov/gene FTL ferritin, light polypeptide 2512 19q13.33 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0005506 (EC: IDA, PMID: 19923220); GO_0005515 (EC: IPI, PMID: 16169070); GO_0005829 (EC: TAS); GO_0006826 (EC: IEA); GO_0006879 (EC: TAS); GO_0006892 (EC: TAS); GO_0008043 (EC: IDA, PMID: 19923220); GO_0008199 (EC: IEA); GO_0008219 (EC: IEA); GO_0042802 (EC: IPI, PMID: 16169070); GO_0055072 (EC: TAS, PMID: 19923220); GO_0055085 (EC: TAS); GO_0061024 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 659425; 2821803; 3000916; 3023856; 3291676; 3754330; 3840162; 3857215; 3858810; 6572903; 6653779; 7492760; 7493028; 7575610; 8041631; 8554925; 8630420; 8636399; 8706699; 8781450; 8864140; 9119260; 9169099; 9196065; 9226182; 9292547; 9414300; 9414313; 9457670; 9526618; 10491119; 10753629; 10759702; 10828006; 11031247; 11252894; 11438811; 11591653; 11783942; 11849230; 12071855; 12199804; 12200611; 12387819; 12401807; 12459518; 12477932; 12646258; 12746423; 14615048; 15099026; 15231747; 15231748; 15390032; 15489334; 15727900; 15835264; 16116125; 16169070; 16189514; 16217041; 16222695; 16252260; 16289162; 16790936; 16822677; 16858508; 17116749; 17459943; 17601350; 17660802; 17761032; 17970701; 18061976; 18160403; 18413574; 18486613; 18586377; 18621011; 18624398; 18665827; 18755684; 18977241; 19056867; 19176363; 19254706; 19318681; 19519778; 19781644; 19787796; 19910193; 19923220; 20088381; 20159981; 20301320; 20345975; 20381070; 20471030; 20689807; 21029774; 21103663; 21139048; 21139976; 21541272; 21555518; 21696736; 21800051; 21906983; 21907119; 22020773; 22117997; 22248276; 22348978; 22359459; 22535864; 22760008; 22863883; 22939629; 23029420; 23080069; 23119080; 23275563; 23300545; 23381919; 23421845; 23463506; 23592921; 23685131; 23699174 ferritin, light polypeptide Ensembl:ENSG00000087086 HGNC:3999 HPRD:00616 MIM:134790 Vega:OTTHUMG00000183332 Other designations: ferritin L subunit|ferritin L-chain|ferritin light chain|ferritin light polypeptide-like 3 FTL Bin Zhao, Yue Liu, Oliver He 6-16 FAM14C G1P3 IFI-6-16 IFI616 WEB: http://www.ncbi.nlm.nih.gov/gene IFI6 interferon, alpha-inducible protein 6 2537 RP11-288L9.2 1p35 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001836 (EC: IMP, PMID: 15685448); GO_0005515 (EC: IPI, PMID: 15685448); GO_0005739 (EC: IDA, PMID: 15685448); GO_0005886 (EC: TAS); GO_0006955 (EC: TAS, PMID: 3017706); GO_0016021 (EC: IEA); GO_0019221 (EC: TAS); GO_0043154 (EC: IMP, PMID: 15685448); GO_0051902 (EC: IMP, PMID: 15685448); GO_0060337 (EC: TAS); GO_2001240 (EC: IMP, PMID: 15685448) PMID: 1303280; 1695131; 1713665; 3017706; 3359997; 6548414; 7596809; 12477932; 14728724; 15489334; 15502823; 15685448; 17823654; 18029348; 18838000; 19322201; 20237496; 20377629; 20628624; 21832049; 21996729 interferon, alpha-inducible protein 6 Ensembl:ENSG00000126709 HGNC:4054 HPRD:00959 MIM:147572 Vega:OTTHUMG00000003518 Other designations: interferon alpha-inducible protein 6|interferon, alpha-inducible protein clone IFI-6-16|interferon-induced protein 6-16 IFI6 Bin Zhao, Yue Liu, Oliver He HDR HDRS WEB: http://www.ncbi.nlm.nih.gov/gene GATA3 GATA binding protein 3 2625 10p15 20140408 9606 10 protein-coding Official from a nomenclature committee GO_0000790 (EC: IDA); GO_0000976 (EC: IDA, PMID: 19723756); GO_0000979 (EC: IEA); GO_0000987 (EC: IDA, PMID: 19232384); GO_0001046 (EC: IDA, PMID: 19674970); GO_0001071 (EC: IDA, PMID: 19232384); GO_0001071 (EC: IMP, PMID: 19674970); GO_0001077 (EC: IEA); GO_0001078 (EC: IMP, PMID: 19674970); GO_0001158 (EC: IEA); GO_0001701 (EC: IEA); GO_0001709 (EC: ISS); GO_0001764 (EC: IEA); GO_0001806 (EC: IEA); GO_0001822 (EC: IMP, PMID: 19248180); GO_0001823 (EC: ISS); GO_0002088 (EC: IEA); GO_0002572 (EC: IEA); GO_0003180 (EC: ISS); GO_0003215 (EC: ISS); GO_0003281 (EC: ISS); GO_0003677 (EC: TAS, PMID: 1871134); GO_0003700 (EC: TAS, PMID: 2050118); GO_0003713 (EC: IDA); GO_0005134 (EC: IEA); GO_0005515 (EC: IPI, PMID: 19674970); GO_0005634 (EC: IDA); GO_0005654 (EC: TAS); GO_0005730 (EC: IDA); GO_0006366 (EC: TAS, PMID: 1871134); GO_0006952 (EC: TAS, PMID: 7592673); GO_0006959 (EC: IEA); GO_0007165 (EC: ISS); GO_0007411 (EC: IEA); GO_0007596 (EC: TAS); GO_0008134 (EC: IPI, PMID: 15016828); GO_0008270 (EC: IEA); GO_0008285 (EC: ISS); GO_0008584 (EC: ISS); GO_0009615 (EC: IEP); GO_0009653 (EC: TAS, PMID: 10935639); GO_0009791 (EC: IEA); GO_0009967 (EC: IMP, PMID: 19674970); GO_0010332 (EC: IEA); GO_0010595 (EC: IMP, PMID: 19674970); GO_0014065 (EC: ISS); GO_0030218 (EC: IEA); GO_0031929 (EC: ISS); GO_0032689 (EC: IEA); GO_0032703 (EC: IEA); GO_0032736 (EC: IEA); GO_0032753 (EC: ISS); GO_0032754 (EC: IEA); GO_0033600 (EC: IDA, PMID: 19483726); GO_0035162 (EC: IEA); GO_0035457 (EC: IEP); GO_0035799 (EC: IEA); GO_0035898 (EC: IEA); GO_0042035 (EC: ISS); GO_0042421 (EC: ISS); GO_0042472 (EC: IEA); GO_0042493 (EC: IEA); GO_0043370 (EC: IEA); GO_0043523 (EC: IEA); GO_0043583 (EC: IMP, PMID: 19248180); GO_0043627 (EC: IEP, PMID: 10037815); GO_0044212 (EC: IDA, PMID: 19735555); GO_0045061 (EC: IEA); GO_0045064 (EC: IEA); GO_0045471 (EC: IEA); GO_0045582 (EC: ISS); GO_0045599 (EC: IMP); GO_0045786 (EC: IMP); GO_0045892 (EC: IMP, PMID: 19674970); GO_0045893 (EC: IDA, PMID: 19723756); GO_0045893 (EC: IMP, PMID: 19674970); GO_0045893 (EC: ISS); GO_0045944 (EC: IDA, PMID: 19232384); GO_0045944 (EC: IMP); GO_0045944 (EC: ISS); GO_0046983 (EC: IEA); GO_0048469 (EC: IEA); GO_0048485 (EC: ISS); GO_0048538 (EC: IEA); GO_0048589 (EC: IEA); GO_0048646 (EC: ISS); GO_0050728 (EC: IMP, PMID: 19674970); GO_0050852 (EC: ISS); GO_0051569 (EC: IEA); GO_0051897 (EC: IMP, PMID: 19674970); GO_0060017 (EC: IEA); GO_0060037 (EC: ISS); GO_0060065 (EC: ISS); GO_0060231 (EC: IDA); GO_0060374 (EC: IEA); GO_0060676 (EC: ISS); GO_0061085 (EC: IEA); GO_0061290 (EC: ISS); GO_0070888 (EC: IDA); GO_0071353 (EC: IEP); GO_0071356 (EC: IEP, PMID: 19674970); GO_0071599 (EC: IEA); GO_0071773 (EC: IEA); GO_0071837 (EC: IPI, PMID: 18445004); GO_0072107 (EC: ISS); GO_0072178 (EC: ISS); GO_0072179 (EC: ISS); GO_0072182 (EC: ISS); GO_0072602 (EC: IEA); GO_0072643 (EC: IEA); GO_0072676 (EC: IDA, PMID: 19805038); GO_2000114 (EC: IEA); GO_2000146 (EC: IMP); GO_2000352 (EC: IMP, PMID: 19674970); GO_2000607 (EC: ISS); GO_2000611 (EC: IMP, PMID: 19248180); GO_2000664 (EC: IDA); GO_2000667 (EC: IDA); GO_2000667 (EC: IMP); GO_2000679 (EC: IMP); GO_2000683 (EC: IMP, PMID: 19735555); GO_2000703 (EC: ISS); GO_2000734 (EC: ISS) PMID: 1827068; 1871134; 2017177; 2050118; 7592673; 8088776; 9020185; 9819382; 10037815; 10212281; 10364157; 10935639; 11076863; 11256614; 11389161; 11724781; 11937547; 11970965; 12057898; 12087127; 12217316; 12477932; 12767938; 12960249; 14757746; 14985365; 15016828; 15087456; 15251440; 15328158; 15361840; 15489334; 15489336; 15563083; 15632006; 15637551; 15699146; 15826950; 15947486; 15975924; 16087702; 16317090; 16357129; 16381901; 16498264; 16509533; 16912130; 16922677; 17057718; 17074191; 17075044; 17078870; 17111354; 17114435; 17114920; 17117487; 17210674; 17234745; 17272506; 17277157; 17357106; 17381824; 17390031; 17445472; 17445473; 17616709; 17628972; 17654061; 17658279; 17703412; 17845581; 18006915; 18029348; 18037162; 18079734; 18154704; 18212358; 18260379; 18268121; 18338249; 18410415; 18445004; 18533032; 18607915; 18619618; 18676680; 18701459; 18772129; 18826115; 18849568; 19043799; 19057839; 19059610; 19082709; 19084267; 19092634; 19094228; 19170196; 19189213; 19232384; 19247692; 19248112; 19248180; 19253381; 19258923; 19261198; 19336263; 19342088; 19346497; 19411068; 19452711; 19473628; 19483726; 19549328; 19559773; 19615257; 19625176; 19639723; 19659764; 19674970; 19692168; 19719829; 19723756; 19728080; 19735555; 19798694; 19805038; 19861286; 19946260; 20130088; 20154722; 20189993; 20211142; 20237292; 20237496; 20333526; 20368097; 20503287; 20660789; 20696860; 20716621; 21037568; 21048031; 21114556; 21120445; 21157112; 21242646; 21289214; 21329183; 21334719; 21399899; 21468546; 21611195; 21638273; 21682737; 21743959; 21761347; 21878914; 21892208; 21930782; 22019771; 22039304; 22120723; 22336257; 22391183; 22607700; 22706858; 22909160; 22951069; 22951729; 22982890; 22985730; 23063330; 23172872; 23203342; 23266442; 23291697; 23308012; 23354167; 23375642; 23395819; 23413906; 23428429; 23430443; 23435732; 23446338; 23453625; 23549873; 23577196; 23715162; 23817569; 23939152; 23996088; 24061521; 24068962; 24121175; 24134931; 24141364; 24145643; 24235142; 24315206 GATA binding protein 3 Ensembl:ENSG00000107485 HGNC:4172 HPRD:00572 MIM:131320 Vega:OTTHUMG00000017640 Other designations: GATA-binding factor 3|trans-acting T-cell-specific transcription factor GATA-3 GATA3 Bin Zhao, Yue Liu, Oliver He AGAT AT CCDS3 WEB: http://www.ncbi.nlm.nih.gov/gene GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) 2628 15q21.1 20140408 9606 15 protein-coding Official from a nomenclature committee GO_0005743 (EC: IEA); GO_0005758 (EC: IDA, PMID: 9218780); GO_0005758 (EC: TAS); GO_0006600 (EC: TAS); GO_0006601 (EC: IDA, PMID: 9218780); GO_0006601 (EC: IEA); GO_0006979 (EC: IEA); GO_0007584 (EC: IEA); GO_0009790 (EC: IEA); GO_0015068 (EC: IDA, PMID: 9218780); GO_0015068 (EC: TAS); GO_0016813 (EC: IEA); GO_0034641 (EC: TAS); GO_0042246 (EC: IEA); GO_0043434 (EC: IEA); GO_0044281 (EC: TAS); GO_0046689 (EC: IEA) PMID: 3800397; 8125298; 8313955; 9148748; 9165070; 9218780; 9266688; 9915841; 10893433; 11555793; 12324495; 12468279; 12477932; 12701824; 12709373; 14702039; 15489334; 15978539; 16614068; 16769397; 16820567; 17101918; 19430482; 20301745; 20360068; 20383146; 20682460; 20877624; 21988832; 23010440; 24004504; 24047826 glycine amidinotransferase (L-arginine:glycine amidinotransferase) Ensembl:ENSG00000171766 HGNC:4175 HPRD:03838 MIM:602360 Vega:OTTHUMG00000131427 Other designations: L-arginine:glycine amidinotransferase|glycine amidinotransferase, mitochondrial|transamidinase GATM Bin Zhao, Yue Liu, Oliver He ATFB11 CX40 WEB: http://www.ncbi.nlm.nih.gov/gene GJA5 gap junction protein, alpha 5, 40kDa 2702 1q21.1 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001501 (EC: IEA); GO_0001525 (EC: IEP, PMID: 11866539); GO_0003105 (EC: IEA); GO_0003151 (EC: IMP); GO_0003158 (EC: IEA); GO_0003161 (EC: IEA); GO_0003174 (EC: IMP); GO_0003193 (EC: IMP); GO_0003281 (EC: IMP); GO_0003283 (EC: IMP); GO_0003284 (EC: IEA); GO_0003294 (EC: IEA); GO_0005887 (EC: IDA); GO_0005921 (EC: IDA); GO_0005922 (EC: IDA); GO_0006813 (EC: IEA); GO_0010643 (EC: IEA); GO_0010652 (EC: IEA); GO_0014704 (EC: IDA, PMID: 16790700); GO_0014704 (EC: TAS); GO_0016264 (EC: IDA); GO_0016264 (EC: IMP, PMID: 16790700); GO_0030326 (EC: IEA); GO_0035050 (EC: IEA); GO_0035922 (EC: IEA); GO_0042995 (EC: IEA); GO_0045776 (EC: IEA); GO_0045907 (EC: IEA); GO_0045909 (EC: IEA); GO_0048844 (EC: ISS); GO_0051259 (EC: IEA); GO_0055077 (EC: IDA); GO_0055085 (EC: IDA); GO_0055117 (EC: IMP, PMID: 16790700); GO_0060307 (EC: IEA); GO_0060371 (EC: IMP); GO_0060373 (EC: IEA); GO_0060412 (EC: IEA); GO_0060413 (EC: IEA); GO_0071253 (EC: IEA); GO_0086005 (EC: IEA); GO_0086014 (EC: IMP); GO_0086015 (EC: IEA); GO_0086053 (EC: IMP); GO_0086064 (EC: IDA, PMID: 16790700); GO_0086069 (EC: IMP); GO_0086075 (EC: IDA); GO_0086075 (EC: IMP, PMID: 16790700); GO_0086077 (EC: IDA); GO_0086091 (EC: IEA); GO_1900133 (EC: IEA); GO_1900825 (EC: IEA); GO_1990029 (EC: IEA) PMID: 1310450; 1964417; 7877871; 7966354; 8561862; 8889548; 9119381; 9523149; 9617570; 10336839; 10581143; 10728420; 10792506; 10873295; 11557558; 11866539; 12064615; 12397213; 12435353; 12477932; 12594044; 14766937; 15094345; 15117819; 15193866; 15297374; 15489334; 16188595; 16189514; 16361362; 16508580; 16545451; 16600287; 16646598; 16710414; 16790700; 16814413; 17189315; 17546509; 17922338; 19490996; 19494781; 19808665; 19913121; 20125193; 20530971; 20628086; 20650941; 20818502; 20831043; 21076161; 21424225; 21649591; 21988832; 22021330; 22199024; 22247482; 22405441; 22422398; 22423256; 22713807; 23040431; 23134779; 23292621; 23348765; 23579271 gap junction protein, alpha 5, 40kDa Ensembl:ENSG00000143140 HGNC:4279 HPRD:08699 MIM:121013 Other designations: connexin 40|gap junction alpha-5 protein GJA5 Bin Zhao, Yue Liu, Oliver He DGSX GTR2-2 MXR7 OCI-5 SDYS SGB SGBS SGBS1 WEB: http://www.ncbi.nlm.nih.gov/gene GPC3 glypican 3 2719 AC002420.1 Xq26.1 20140408 9606 X protein-coding Official from a nomenclature committee GO_0001523 (EC: TAS); GO_0001658 (EC: IEA); GO_0005515 (EC: IPI, PMID: 17549790); GO_0005578 (EC: IEA); GO_0005615 (EC: IEA); GO_0005796 (EC: TAS); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 7657705); GO_0005975 (EC: TAS); GO_0006024 (EC: TAS); GO_0006027 (EC: TAS); GO_0007603 (EC: TAS); GO_0009653 (EC: TAS, PMID: 8589713); GO_0009948 (EC: IEA); GO_0010171 (EC: IEA); GO_0030203 (EC: TAS); GO_0030204 (EC: TAS); GO_0030282 (EC: IEA); GO_0030316 (EC: IEA); GO_0030324 (EC: IEA); GO_0030513 (EC: IEA); GO_0035116 (EC: IEA); GO_0043202 (EC: TAS); GO_0043395 (EC: IEA); GO_0044281 (EC: TAS); GO_0045732 (EC: IEA); GO_0045807 (EC: IEA); GO_0045879 (EC: IEA); GO_0045880 (EC: IEA); GO_0045926 (EC: IEA); GO_0046326 (EC: IEA); GO_0046658 (EC: IEA); GO_0050680 (EC: IEA); GO_0060422 (EC: IDA, PMID: 17549790); GO_0060976 (EC: IEA); GO_0072138 (EC: ISS); GO_0072180 (EC: IEA); GO_0072203 (EC: IEA); GO_0090090 (EC: IEA); GO_2000096 (EC: IEA) PMID: 7657705; 7909248; 8125298; 8589713; 9021160; 9133586; 9339360; 9371521; 9630066; 9787072; 9853964; 9931407; 9950367; 10814714; 11193214; 11320054; 11893651; 12085187; 12477932; 12478660; 12816733; 12824919; 14661052; 15083193; 15475451; 15772651; 16227623; 16299239; 16344560; 16675560; 16682817; 17087938; 17549790; 17581422; 17603795; 17949778; 17949790; 18029348; 18264086; 18277882; 18413366; 18462363; 18469798; 18511877; 18785116; 18813128; 18813403; 18976006; 19141032; 19215053; 19231003; 19243386; 19329941; 19405109; 19496787; 19513517; 19574883; 19793164; 19816934; 19838081; 20301398; 20301471; 20301534; 20546340; 20653060; 20701957; 20725905; 20803547; 20845507; 20868507; 20950395; 20964802; 21187490; 21303616; 21371925; 21410073; 21429352; 21438004; 21493758; 21556932; 21586223; 21617840; 21655958; 21822558; 21847365; 21890473; 21906983; 21919070; 21937079; 22026458; 22119409; 22298472; 22382024; 22448662; 22449976; 22706665; 22865282; 23060277; 23079207; 23084579; 23114924; 23192642; 23327927; 23348905; 23471984; 23526389; 23530909; 23558072; 23598528; 23606591; 23624389; 23643963; 23743582; 24068947; 24225756 glypican 3 Ensembl:ENSG00000147257 HGNC:4451 HPRD:02074 MIM:300037 Vega:OTTHUMG00000022448 Other designations: glypican proteoglycan 3|glypican-3|heparan sulphate proteoglycan|intestinal protein OCI-5|secreted glypican-3 GPC3 Bin Zhao, Yue Liu, Oliver He GLI WEB: http://www.ncbi.nlm.nih.gov/gene GLI1 GLI family zinc finger 1 2735 12q13.2-q13.3 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0001649 (EC: IDA, PMID: 12165851); GO_0003677 (EC: IDA, PMID: 9118802); GO_0003682 (EC: IEA); GO_0003705 (EC: IEA); GO_0005515 (EC: IPI, PMID: 10564661); GO_0005634 (EC: IDA); GO_0005730 (EC: IDA, Qualifier: NOT); GO_0005737 (EC: IDA, PMID: 10504446); GO_0005829 (EC: IDA, PMID: 18559511); GO_0007224 (EC: IDA, PMID: 19878745); GO_0007224 (EC: TAS, PMID: 11001584); GO_0007283 (EC: IEA); GO_0007418 (EC: IEA); GO_0008017 (EC: IEA); GO_0008284 (EC: IMP, PMID: 12165851); GO_0008589 (EC: TAS, PMID: 11238441); GO_0009913 (EC: IDA, PMID: 12165851); GO_0009953 (EC: IEA); GO_0009954 (EC: IEA); GO_0021696 (EC: IEA); GO_0021938 (EC: IEA); GO_0021983 (EC: IEA); GO_0030324 (EC: IEA); GO_0043231 (EC: IDA); GO_0044212 (EC: IDA, PMID: 17035233); GO_0045740 (EC: IDA, PMID: 12165851); GO_0045880 (EC: IDA, PMID: 17035233); GO_0045893 (EC: IDA, PMID: 11238441); GO_0045944 (EC: IDA, PMID: 10693759); GO_0046872 (EC: IEA); GO_0048546 (EC: TAS, PMID: 11001584); GO_0060032 (EC: IEA); GO_0072372 (EC: IEA); GO_0090090 (EC: IMP, PMID: 17035233) PMID: 1320124; 2497059; 2832761; 2850480; 3563490; 8378770; 9118802; 9524201; 9731531; 10504446; 10559945; 10564661; 10693759; 10806483; 10951255; 11001584; 11032829; 11238441; 11717126; 11948912; 11960000; 12138125; 12165851; 12221011; 12426310; 12477932; 12907651; 14555646; 14611647; 15024701; 15111311; 15175043; 15314219; 15489334; 15555571; 15606671; 15905200; 16003737; 16229683; 16293631; 16434164; 16537020; 16701100; 16786128; 16880536; 16887337; 17007023; 17018598; 17035233; 17054904; 17102592; 17115028; 17179732; 17196391; 17392427; 17461467; 17628016; 17638910; 18203291; 18281251; 18378682; 18410405; 18425375; 18475300; 18524848; 18559511; 18754037; 18829525; 18924150; 19015273; 19071955; 19189974; 19191023; 19203449; 19214186; 19219074; 19329935; 19432668; 19473442; 19556240; 19593328; 19706168; 19706761; 19859563; 19878745; 19887615; 19902354; 19948058; 19996099; 20049737; 20050020; 20081843; 20083481; 20175750; 20211142; 20333644; 20445566; 20561215; 20581802; 20603613; 20647328; 20711444; 20799336; 20818436; 20857406; 20941789; 20972463; 21059263; 21127038; 21129534; 21169257; 21172305; 21209912; 21357786; 21424326; 21442356; 21494603; 21543335; 21577203; 21618411; 21630164; 21633508; 21661123; 21666711; 21720384; 21726936; 21757753; 21861243; 21921029; 21940310; 22040957; 22086851; 22094256; 22110720; 22114142; 22114144; 22266871; 22295843; 22365972; 22374725; 22398221; 22407314; 22486854; 22558994; 22623531; 22730244; 22745574; 22768056; 22797820; 22868198; 22901214; 22911366; 22949014; 23146903; 23178452; 23185371; 23324600; 23336661; 23337877; 23395608; 23436775; 23446420; 23493353; 23520544; 23555905; 23580656; 23645762; 23667589; 23757299; 23788111; 23791879; 23860225; 23936094; 24045042; 24072710; 24076122 GLI family zinc finger 1 Ensembl:ENSG00000111087 HGNC:4317 HPRD:01311 MIM:165220 Vega:OTTHUMG00000167332 Other designations: GLI-Kruppel family member GLI1|glioma-associated oncogene 1|glioma-associated oncogene homolog 1 (zinc finger protein)|oncogene GLI|zinc finger protein GLI1 GLI1 Bin Zhao, Yue Liu, Oliver He GPM6 M6A WEB: http://www.ncbi.nlm.nih.gov/gene GPM6A glycoprotein M6A 2823 4q34 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0001764 (EC: IDA, PMID: 19298174); GO_0003407 (EC: ISS); GO_0005262 (EC: IEA); GO_0005886 (EC: ISS); GO_0007416 (EC: ISS); GO_0016021 (EC: IEA); GO_0030175 (EC: ISS); GO_0043005 (EC: ISS); GO_0043025 (EC: ISS); GO_0043197 (EC: IEA); GO_0044295 (EC: ISS); GO_0048812 (EC: ISS); GO_0048863 (EC: IDA, PMID: 19298174); GO_0051491 (EC: ISS); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 8661015; 8807448; 8893821; 12359212; 12477932; 12493773; 15489334; 15822905; 16344560; 17500595; 18163405; 18574501; 19056867; 19298174; 20379614; 20400778; 21041608; 21900206; 22365631; 23284715; 23382691; 23632458; 23722424 glycoprotein M6A Ensembl:ENSG00000150625 HGNC:4460 HPRD:03174 MIM:601275 Vega:OTTHUMG00000160760 Other designations: neuronal membrane glycoprotein M6-a GPM6A Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene GPR18 G protein-coupled receptor 18 2841 RP11-461N23.8 13q32 20140408 9606 13 protein-coding Official from a nomenclature committee GO_0004930 (EC: NAS, PMID: 9205118); GO_0005886 (EC: TAS); GO_0007186 (EC: NAS, PMID: 9205118); GO_0016021 (EC: NAS, PMID: 9205118) PMID: 9205118; 11991713; 12477932; 15057823; 15489334; 16844083; 18577758; 20880198; 21261596; 23128233 G protein-coupled receptor 18 Other designations: N-arachidonyl glycine receptor|NAGly receptor GPR18 Bin Zhao, Yue Liu, Oliver He GI-GPx GPRP GPRP-2 GPx-2 GPx-GI GSHPX-GI GSHPx-2 WEB: http://www.ncbi.nlm.nih.gov/gene GPX2 glutathione peroxidase 2 (gastrointestinal) 2877 14q24.1 20140408 9606 14 protein-coding Official from a nomenclature committee GO_0001659 (EC: IEA); GO_0002862 (EC: IEA); GO_0004602 (EC: TAS); GO_0005737 (EC: TAS, PMID: 8428933); GO_0005829 (EC: TAS); GO_0006979 (EC: IEA); GO_0009055 (EC: TAS, PMID: 8428933); GO_0009609 (EC: IEA); GO_0051702 (EC: IEA) PMID: 2388849; 8125298; 8287691; 8428933; 8833155; 9501919; 10652368; 10806356; 11368344; 11373322; 11811519; 12477932; 12674495; 12751789; 15489334; 15910762; 15923610; 16446369; 16794261; 17277236; 17937616; 18029348; 18056462; 18479189; 18483336; 18676680; 19047153; 19161995; 19170196; 19573080; 19625176; 19692168; 19773279; 19884766; 19913121; 20200426; 20628086; 20813000; 21988832; 22683372; 22758632 glutathione peroxidase 2 (gastrointestinal) Ensembl:ENSG00000176153 HGNC:4554 HPRD:11818 MIM:138319 Vega:OTTHUMG00000171677 Other designations: gastrointestinal glutathione peroxidase|glutathione peroxidase 2|glutathione peroxidase-related protein 2 GPX2 Bin Zhao, Yue Liu, Oliver He GPx-P GSHPx-3 GSHPx-P WEB: http://www.ncbi.nlm.nih.gov/gene GPX3 glutathione peroxidase 3 (plasma) 2878 5q23 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0004602 (EC: EXP); GO_0004602 (EC: IDA, PMID: 1897960); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 1897960); GO_0006982 (EC: TAS, PMID: 2491950); GO_0008134 (EC: TAS, PMID: 8056346); GO_0008430 (EC: IDA, PMID: 2491950); GO_0042744 (EC: TAS, PMID: 2491950); GO_0051289 (EC: IDA, PMID: 3693360); GO_0070062 (EC: IDA, PMID: 19199708) PMID: 1339300; 1897960; 2229017; 2491950; 3619451; 3693360; 8056346; 8262911; 8287691; 9501919; 10652368; 10970826; 11149894; 11368344; 11934214; 11983108; 12477932; 12553559; 12674495; 12732844; 15096516; 15375613; 15489334; 15910762; 16229808; 16937131; 17122425; 17804715; 17937619; 18096833; 18483336; 18676680; 18936159; 19020706; 19161995; 19170196; 19199708; 19375609; 19573080; 19625176; 19692168; 19766714; 19773279; 19913121; 20043075; 20200426; 20303587; 20485444; 20576521; 20628086; 20712757; 20725785; 20730571; 20813000; 20946167; 21684681; 21933611; 22461624; 22508837; 22981671; 23071548; 23132926; 23436019; 23837478; 24186266 glutathione peroxidase 3 (plasma) Ensembl:ENSG00000211445 HGNC:4555 HPRD:11750 MIM:138321 Vega:OTTHUMG00000163693 Other designations: GPx-3|extracellular glutathione peroxidase|glutathione peroxidase 3|plasma glutathione peroxidase GPX3 Bin Zhao, Yue Liu, Oliver He CINC-2a GRO2 GROb MGSA-b MIP-2a MIP2 MIP2A SCYB2 WEB: http://www.ncbi.nlm.nih.gov/gene CXCL2 chemokine (C-X-C motif) ligand 2 2920 4q21 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0002237 (EC: IDA, PMID: 19912257); GO_0005515 (EC: IPI, PMID: 18275857); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0006935 (EC: TAS, PMID: 2643119); GO_0006954 (EC: IEA); GO_0006955 (EC: IEA); GO_0008009 (EC: IEA); GO_0060326 (EC: TAS, PMID: 9873037) PMID: 1906501; 2078213; 2129556; 2201751; 2217207; 2341726; 2643119; 2834384; 7864661; 8702798; 9260277; 9277410; 9843467; 9873037; 10600366; 10725737; 10928473; 11134351; 11559650; 12419803; 12477932; 12508094; 12556377; 12892904; 15489334; 15614130; 16421598; 16697212; 17466952; 17703412; 17944017; 17999991; 18191274; 18240029; 18275857; 18322244; 18577758; 18624398; 18835392; 19258923; 19369450; 19435811; 19912257; 20056178; 20162422; 20185584; 20237496; 21145461; 21220697; 21630055; 21677836; 21738478; 21738479; 21988832; 22056994; 22615136; 22770218; 22771802; 23021568; 23128233; 23225384; 23372021; 23554905; 23904157 chemokine (C-X-C motif) ligand 2 Ensembl:ENSG00000081041 HGNC:4603 HPRD:00741 MIM:139110 Vega:OTTHUMG00000160865 Other designations: C-X-C motif chemokine 2|GRO2 oncogene|MGSA beta|MIP2-alpha|gro-beta|growth-regulated protein beta|macrophage inflammatory protein 2-alpha|melanoma growth stimulatory activity beta CXCL2 Bin Zhao, Yue Liu, Oliver He CTLA3 HFSP WEB: http://www.ncbi.nlm.nih.gov/gene GZMA granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 3001 5q11-q12 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0001772 (EC: TAS, PMID: 12524539); GO_0004252 (EC: IDA, PMID: 11331782); GO_0005515 (EC: IPI, PMID: 12524539); GO_0005576 (EC: IEA); GO_0005634 (EC: TAS, PMID: 11909973); GO_0006915 (EC: TAS, PMID: 12524539); GO_0006955 (EC: TAS, PMID: 12524539); GO_0019835 (EC: IEA); GO_0032078 (EC: IDA, PMID: 12524539); GO_0042803 (EC: IDA, PMID: 12819770); GO_0043065 (EC: IDA, PMID: 12524539); GO_0043392 (EC: IDA, PMID: 12524539); GO_0051354 (EC: IDA, PMID: 12524539); GO_0051603 (EC: IDA, PMID: 12524539) PMID: 1860869; 3047119; 3237717; 3257574; 3262682; 3263427; 3533635; 7751653; 7912927; 8288245; 9256474; 9531325; 11060286; 11331782; 11555662; 11909973; 12477932; 12524539; 12555094; 12721789; 12819769; 12819770; 15238416; 15342556; 15489334; 15911377; 15998831; 16440001; 17008916; 17116752; 17138956; 17308307; 17703412; 18317234; 18485875; 18776661; 18951048; 19014932; 19059912; 19258923; 19343046; 19506301; 19875524; 20503287; 20536382; 21068403; 21349256; 21709155; 22476618 granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) Ensembl:ENSG00000145649 HGNC:4708 HPRD:00771 MIM:140050 Vega:OTTHUMG00000097011 Other designations: CTL tryptase|Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)|HF|cytotoxic T-lymphocyte proteinase 1|fragmentin-1|granzyme A|h factor GZMA Bin Zhao, Yue Liu, Oliver He CCPI CGL-1 CGL1 CSP-B CSPB CTLA1 CTSGL1 HLP SECT WEB: http://www.ncbi.nlm.nih.gov/gene GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 3002 14q11.2 20140408 9606 14 protein-coding Official from a nomenclature committee GO_0001772 (EC: TAS, PMID: 12524539); GO_0004252 (EC: IDA, PMID: 11331782); GO_0004252 (EC: TAS, PMID: 12524539); GO_0005515 (EC: IPI, PMID: 11911826); GO_0005634 (EC: TAS, PMID: 11909973); GO_0005737 (EC: IDA); GO_0005829 (EC: TAS); GO_0006508 (EC: IBA); GO_0006915 (EC: TAS, PMID: 12524539); GO_0007219 (EC: TAS); GO_0008236 (EC: TAS, PMID: 2402757); GO_0008626 (EC: IBA); GO_0019835 (EC: IEA); GO_0030141 (EC: IBA); GO_0043231 (EC: IDA); GO_0097193 (EC: TAS); GO_1900740 (EC: TAS) PMID: 1067155; 1985927; 2049336; 2193684; 2300587; 2323780; 2332171; 2365998; 2402757; 2788607; 2953813; 3258865; 3261871; 3262682; 3263427; 8156655; 8631895; 8760815; 8770355; 8900201; 8910377; 9233763; 9337844; 9464839; 9586635; 9642276; 9651578; 9694885; 9727491; 9852092; 10228010; 11050075; 11081635; 11085743; 11114298; 11160179; 11209755; 11266473; 11325591; 11331782; 11406587; 11665980; 11802788; 11909973; 11911826; 12009596; 12135665; 12200377; 12218164; 12384430; 12388539; 12477932; 12483306; 12524539; 12645627; 12648450; 12648453; 12721789; 12874291; 12913938; 12919092; 14499262; 14512315; 14635036; 14696402; 14697980; 14739229; 14752093; 14967307; 14996347; 15014070; 15069086; 15238416; 15302935; 15340161; 15489334; 15494398; 15528317; 15569669; 15641052; 15650747; 15673968; 15699075; 15788411; 15818305; 15843372; 15880044; 15911377; 15998831; 16107729; 16166746; 16336214; 16415351; 16524880; 16547231; 16547254; 16611405; 16794249; 16798735; 16908262; 16952444; 17008916; 17015688; 17055354; 17077322; 17116752; 17198275; 17202328; 17224449; 17258890; 17283187; 17437484; 17485116; 17493234; 17568588; 17620340; 17703412; 17785818; 17825804; 17869012; 17976318; 17996944; 18024321; 18029348; 18275349; 18311812; 18317234; 18523274; 18568772; 18580471; 18675462; 18772390; 18785318; 18814951; 18836177; 19079360; 19141320; 19141860; 19145036; 19157637; 19175398; 19258923; 19343046; 19446661; 19458908; 19543056; 19592644; 19759420; 19796544; 19801510; 19956856; 20027633; 20035050; 20038786; 20087581; 20194725; 20371822; 20388708; 20394077; 20410501; 20449762; 20497195; 20503287; 20536562; 20618609; 20633650; 20800603; 20825413; 20959405; 21042704; 21156847; 21203542; 21301799; 21326808; 21349256; 21458778; 21548883; 21709155; 21884199; 21886827; 21919028; 21948366; 21960590; 21964027; 22050094; 22084442; 22089193; 22142046; 22172867; 22194691; 22387007; 22430249; 22438997; 22476618; 22479366; 22547705; 22759804; 23172556; 23228447; 23321919; 23321921; 23326234; 23377437; 23382885; 23407551; 23440692; 23528102; 23555267; 23598339; 23607435; 23892923; 24101526; 24113190; 24114594 granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) Ensembl:ENSG00000100453 HGNC:4709 HPRD:00476 MIM:123910 Vega:OTTHUMG00000029369 Other designations: C11|CTLA-1|T-cell serine protease 1-3E|cathepsin G-like 1|cytotoxic T-lymphocyte proteinase 2|cytotoxic serine protease B|fragmentin 2|fragmentin-2|granzyme B|human lymphocyte protein GZMB Bin Zhao, Yue Liu, Oliver He TRYP2 WEB: http://www.ncbi.nlm.nih.gov/gene GZMK granzyme K (granzyme 3; tryptase II) 3003 5q11.2 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0004252 (EC: IEA); GO_0005576 (EC: IEA); GO_0008236 (EC: TAS, PMID: 8656064) PMID: 1460416; 3262682; 7758581; 8039831; 8656064; 8929545; 12384499; 12387726; 12477932; 15489334; 17008916; 17308307; 17438453; 19059912; 19201868; 20377743; 20876349; 21666061; 21988832 granzyme K (granzyme 3; tryptase II) HGNC:4711 HPRD:02872 MIM:600784 Other designations: NK-Tryp-2|NK-tryptase-2|fragmentin-3|granzyme 3|granzyme K|granzyme K (serine protease, granzyme 3; tryptase II)|granzyme-3|tryptase II GZMK Bin Zhao, Yue Liu, Oliver He JTK9 p59Hck p61Hck WEB: http://www.ncbi.nlm.nih.gov/gene HCK hemopoietic cell kinase 3055 RP5-836N17.3 20q11-q12 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0002522 (EC: TAS, PMID: 18538446); GO_0002758 (EC: TAS, PMID: 18538446); GO_0004713 (EC: IMP, PMID: 10092522); GO_0004715 (EC: IEA); GO_0005515 (EC: IPI, PMID: 11278465); GO_0005524 (EC: IEA); GO_0005634 (EC: IEA); GO_0005764 (EC: IDA, PMID: 15998323); GO_0005794 (EC: IEA); GO_0005829 (EC: TAS); GO_0005884 (EC: IDA, Qualifier: colocalizes_with, PMID: 15998323); GO_0005901 (EC: IDA, PMID: 7791757); GO_0005925 (EC: IMP, PMID: 11904303); GO_0006468 (EC: TAS, PMID: 3496523); GO_0006954 (EC: IEA); GO_0007155 (EC: TAS, PMID: 18538446); GO_0007229 (EC: TAS, PMID: 18538446); GO_0007498 (EC: TAS, PMID: 3453117); GO_0008284 (EC: IMP, PMID: 10092522); GO_0008360 (EC: IMP, PMID: 10092522); GO_0016032 (EC: TAS); GO_0018108 (EC: IMP, PMID: 10092522); GO_0019221 (EC: TAS, PMID: 18538446); GO_0030133 (EC: IEA); GO_0030838 (EC: TAS, PMID: 18538446); GO_0031234 (EC: IMP, PMID: 11904303); GO_0031663 (EC: TAS, PMID: 18538446); GO_0038096 (EC: TAS); GO_0042995 (EC: IEA); GO_0043066 (EC: IMP, PMID: 17535448); GO_0043299 (EC: TAS, PMID: 18538446); GO_0045087 (EC: TAS); GO_0045728 (EC: TAS, PMID: 18538446); GO_0046777 (EC: IMP, PMID: 10092522); GO_0050690 (EC: TAS); GO_0050727 (EC: TAS, PMID: 18538446); GO_0050764 (EC: IMP, PMID: 11904303); GO_0051090 (EC: IMP, PMID: 17535448); GO_0060333 (EC: TAS, PMID: 18538446); GO_0071801 (EC: IDA, PMID: 15998323); GO_2000251 (EC: IDA, PMID: 15998323); GO_2000251 (EC: IMP, PMID: 11904303) PMID: 1373873; 1572549; 1689310; 1720539; 1875927; 3453117; 3496523; 7588629; 7682059; 7782336; 7791757; 7859737; 8058772; 8064233; 8125298; 8599760; 8626374; 8657103; 8885868; 8955135; 8995358; 9020138; 9024658; 9109402; 9178913; 9195918; 9218412; 9268059; 9400828; 9407116; 9571048; 9656992; 9705913; 9742969; 9778343; 9790917; 9837776; 9890970; 10068673; 10092522; 10318861; 10364375; 10388555; 10428862; 10527858; 10544125; 10547288; 10574946; 10586033; 10642173; 10749872; 10799548; 10849448; 10858437; 10918587; 10934191; 10967098; 10973280; 11071635; 11097855; 11239464; 11278465; 11294897; 11328823; 11350938; 11448168; 11463741; 11500821; 11533201; 11689697; 11741929; 11780052; 11896602; 11904303; 11940572; 11976726; 11994282; 12029088; 12033791; 12076760; 12138090; 12181444; 12235133; 12244095; 12477932; 12496276; 12522270; 12538589; 12576423; 12592324; 12600646; 12626508; 12734187; 12734410; 12748290; 12769846; 12900520; 14506255; 14551197; 14551213; 14702039; 14969582; 14993658; 15010462; 15078178; 15144186; 15263807; 15489334; 15491611; 15595833; 15626739; 15638726; 15707590; 15784897; 15952790; 15998323; 16169070; 16210316; 16271895; 16273093; 16344560; 16374509; 16454711; 16849330; 16964398; 17024369; 17081983; 17141806; 17535448; 17668209; 17868192; 17893228; 18005690; 18042718; 18067320; 18538446; 18794796; 19149577; 19211505; 19234535; 19585521; 19807124; 19807924; 20056178; 20181660; 20488787; 20670214; 20702582; 20798061; 20810664; 20936779; 21309750; 21365684; 21477083; 21567396; 21625496; 21696586; 21738584; 21763503; 21832049; 21878628; 21886773; 21890473; 21988832; 21993313; 22021612; 22110726; 22185326; 22345475; 22364282; 22393415; 22537596; 22623531; 22641034; 22651890; 22745667; 22939624; 22974441; 23128233; 23439650; 23896410; 24051604 hemopoietic cell kinase Ensembl:ENSG00000101336 HGNC:4840 HPRD:00796 MIM:142370 Vega:OTTHUMG00000032204 Other designations: hematopoietic cell kinase|p59-HCK/p60-HCK|tyrosine-protein kinase HCK HCK Bin Zhao, Yue Liu, Oliver He AHUS1 AMBP1 ARMD4 ARMS1 CFHL3 FH FHL1 HF HF1 HF2 HUS WEB: http://www.ncbi.nlm.nih.gov/gene CFH complement factor H 3075 RP1-177P10.1 1q32 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 16612335); GO_0005576 (EC: TAS); GO_0005615 (EC: TAS, PMID: 9312129); GO_0006956 (EC: TAS, PMID: 9312129); GO_0006957 (EC: IEA); GO_0008201 (EC: IDA); GO_0030449 (EC: TAS); GO_0043395 (EC: IDA); GO_0045087 (EC: TAS); GO_0072562 (EC: IDA) PMID: 1401896; 1533152; 1826264; 1826708; 1828229; 1829116; 2445583; 2527799; 2529127; 2889480; 2937845; 2946589; 2952588; 2963625; 2968404; 2968949; 2977721; 3782802; 6215918; 7492444; 7535292; 7576914; 7590866; 7893437; 8125298; 8172644; 8331663; 8663389; 9291131; 9312129; 9551389; 9558116; 9988761; 10377245; 10380701; 10490997; 10577907; 10762557; 10781834; 10803850; 11116141; 11158219; 11170895; 11170896; 11367528; 11367530; 11367533; 11446651; 11446652; 11644971; 11825898; 11851332; 11921353; 12020532; 12391176; 12424708; 12471127; 12477932; 12630812; 12960213; 14583443; 14638802; 14702039; 14760718; 14974950; 15163532; 15174051; 15331938; 15342556; 15489334; 15557185; 15634279; 15749837; 15754282; 15761120; 15761121; 15761122; 15784724; 15870199; 15895326; 16170519; 16174643; 16192651; 16229850; 16263173; 16267773; 16299065; 16300415; 16310045; 16335952; 16341674; 16379025; 16386793; 16431947; 16470555; 16519819; 16528247; 16533809; 16541016; 16612335; 16621965; 16630992; 16642439; 16710414; 16710702; 16723442; 16730735; 16751403; 16754848; 16774956; 16785547; 16787919; 16816528; 16828512; 16849663; 16865697; 16877387; 16885922; 16889549; 16905558; 16909242; 16919753; 16936080; 16936129; 16936732; 16936733; 16954704; 17000705; 17003406; 17022693; 17056561; 17076561; 17079491; 17132743; 17137217; 17151483; 17157600; 17167412; 17198853; 17208302; 17210851; 17210852; 17210858; 17229916; 17241667; 17266113; 17285240; 17293598; 17306880; 17314151; 17339482; 17352366; 17360715; 17362990; 17396242; 17398321; 17399790; 17426452; 17438519; 17438673; 17442969; 17456821; 17464302; 17472578; 17483111; 17548524; 17558024; 17562771; 17580967; 17591618; 17591627; 17591866; 17599974; 17631852; 17679948; 17697822; 17699195; 17724217; 17767156; 17846368; 17846371; 17869048; 17877809; 17915330; 17959597; 17962488; 17973958; 17995985; 17999207; 18005991; 18006700; 18039838; 18050121; 18054635; 18067970; 18070148; 18081690; 18081691; 18093091; 18161619; 18162041; 18163432; 18164066; 18183578; 18190458; 18203751; 18211923; 18223247; 18235016; 18235085; 18248681; 18263814; 18268093; 18292569; 18292760; 18292785; 18316707; 18325906; 18336910; 18340363; 18362109; 18378209; 18406463; 18413232; 18421087; 18422436; 18423869; 18433936; 18436811; 18452766; 18461138; 18493315; 18502988; 18515590; 18538409; 18541031; 18566420; 18596911; 18604638; 18624398; 18627285; 18627465; 18658028; 18676680; 18682806; 18682812; 18704199; 18718667; 18762075; 18766990; 18784628; 18786923; 18787502; 18824548; 18852870; 18855541; 18936151; 18939352; 18976665; 18979363; 18996904; 19000922; 19001225; 19003634; 19005013; 19009024; 19015224; 19019939; 19025119; 19029036; 19047406; 19048105; 19050261; 19074778; 19076828; 19091853; 19092117; 19098018; 19112495; 19117936; 19124749; 19144569; 19162324; 19166692; 19168221; 19169230; 19169232; 19170196; 19187590; 19187823; 19197355; 19202148; 19204088; 19242507; 19259132; 19299737; 19306911; 19308255; 19336370; 19336475; 19344414; 19351878; 19388158; 19399715; 19428307; 19454698; 19503104; 19505474; 19505476; 19508377; 19531976; 19540598; 19541934; 19549636; 19567623; 19568762; 19625176; 19646183; 19680263; 19680273; 19692124; 19692168; 19703145; 19704120; 19796758; 19797206; 19822851; 19822855; 19823576; 19825847; 19833879; 19835885; 19845562; 19850343; 19850835; 19850925; 19861685; 19878322; 19899988; 19913121; 19948975; 19951950; 20007824; 20008295; 20038862; 20042647; 20042653; 20059470; 20106822; 20127520; 20132989; 20157618; 20161521; 20163251; 20181037; 20237496; 20238042; 20299368; 20301541; 20301598; 20304497; 20346514; 20351616; 20378178; 20378180; 20381870; 20385334; 20385819; 20385826; 20394361; 20504767; 20513133; 20513355; 20523265; 20534299; 20538655; 20574013; 20576771; 20580090; 20581873; 20588308; 20595690; 20605213; 20606025; 20622116; 20626361; 20628086; 20646335; 20658973; 20660596; 20664795; 20678803; 20688737; 20694013; 20703214; 20708732; 20711705; 20730046; 20734203; 20736788; 20801516; 20823202; 20841369; 20843825; 20854881; 20855886; 20861866; 20863311; 20865640; 20865641; 20869121; 20878164; 20881291; 20888482; 21106043; 21111031; 21146613; 21153520; 21158586; 21163532; 21167605; 21232084; 21270465; 21282580; 21325619; 21339361; 21396937; 21397333; 21399633; 21402993; 21435440; 21503575; 21531728; 21555552; 21558292; 21574022; 21618592; 21640790; 21642625; 21649859; 21659506; 21665990; 21677636; 21695352; 21697597; 21717289; 21743006; 21790300; 21793561; 21816153; 21817962; 21825189; 21856016; 21868097; 21871809; 21881555; 21882633; 21896867; 21930971; 21936007; 21979047; 21988832; 22019782; 22022419; 22035603; 22059990; 22065918; 22065928; 22088229; 22104107; 22133792; 22136554; 22140259; 22153652; 22171659; 22182977; 22197220; 22253316; 22259222; 22293892; 22300950; 22302353; 22320225; 22355348; 22426290; 22471560; 22486323; 22487577; 22491393; 22514678; 22526676; 22570352; 22628306; 22669321; 22694956; 22705344; 22786770; 22815489; 22840423; 22848687; 22875704; 22876110; 22905135; 22922817; 22933840; 22936692; 22956584; 22965593; 22969267; 22977134; 23017427; 23028341; 23070659; 23071278; 23098369; 23110143; 23111182; 23112567; 23195022; 23209669; 23233260; 23235567; 23243267; 23289807; 23289808; 23296223; 23306536; 23326517; 23332154; 23337555; 23356914; 23365078; 23365660; 23376722; 23381943; 23385359; 23390291; 23423485; 23441108; 23455636; 23494043; 23497844; 23562165; 23577725; 23596508; 23620142; 23637600; 23637608; 23658013; 23660864; 23661701; 23662819; 23687431; 23701234; 23702979; 23747994; 23844226; 23863906; 23864767; 23867343; 23938460; 23966370; 23972322; 24008159; 24014239; 24083687; 24113783 complement factor H Ensembl:ENSG00000000971 HGNC:4883 HPRD:00601 MIM:134370 Vega:OTTHUMG00000035607 Other designations: H factor 1 (complement)|H factor 2 (complement)|adrenomedullin binding protein|age-related maculopathy susceptibility 1|beta-1-H-globulin|beta-1H|factor H|factor H-like 1 CFH Bin Zhao, Yue Liu, Oliver He DFNB39 F-TCF HGFB HPTA SF WEB: http://www.ncbi.nlm.nih.gov/gene HGF hepatocyte growth factor (hepapoietin A; scatter factor) 3082 7q21.1 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0000187 (EC: IEA); GO_0001837 (EC: TAS, PMID: 14679171); GO_0001889 (EC: IEA); GO_0002576 (EC: TAS); GO_0004252 (EC: NAS, Qualifier: NOT, PMID: 2531289); GO_0005515 (EC: IPI, PMID: 12694198); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0006508 (EC: NAS, Qualifier: NOT, PMID: 2531289); GO_0007067 (EC: NAS, PMID: 2531289); GO_0007596 (EC: TAS); GO_0008083 (EC: NAS, PMID: 2531289); GO_0014068 (EC: IDA); GO_0030168 (EC: TAS); GO_0030212 (EC: IEA); GO_0030335 (EC: IDA); GO_0031093 (EC: TAS); GO_0031100 (EC: IEA); GO_0035729 (EC: IDA); GO_0042056 (EC: IDA); GO_0042802 (EC: IPI); GO_0043066 (EC: IEA); GO_0043154 (EC: IDA); GO_0045669 (EC: NAS); GO_0045944 (EC: NAS); GO_0046982 (EC: IEA); GO_0048012 (EC: IDA); GO_0050731 (EC: IDA); GO_0050918 (EC: IDA); GO_0051450 (EC: IEA); GO_0060326 (EC: IDA); GO_0060665 (EC: IDA, PMID: 14517989); GO_0090201 (EC: IDA); GO_1901299 (EC: IDA); GO_1902042 (EC: IEA); GO_2000573 (EC: IDA, PMID: 2531289) PMID: 1280830; 1321034; 1328193; 1334458; 1386343; 1482348; 1531136; 1535333; 1655405; 1720571; 1824873; 1826653; 1826837; 1831266; 1831432; 1832556; 1835383; 1837206; 1837534; 1838014; 2145836; 2524251; 2528952; 2531289; 3276728; 7487981; 7489981; 7593211; 7608139; 7822318; 8041760; 8157651; 8175137; 8288571; 8380735; 8603858; 8631970; 8662798; 8889548; 8898205; 8994391; 9314600; 9352114; 9493272; 9817840; 9886295; 10421795; 10725250; 10848592; 10871856; 10962009; 11342433; 11597998; 11781826; 11799124; 11821397; 11830493; 11836782; 11839685; 11867177; 11909963; 11928807; 11929792; 11943656; 11994287; 11999653; 12051906; 12124772; 12151078; 12151314; 12163032; 12168776; 12209727; 12233882; 12244174; 12368906; 12372819; 12374695; 12379223; 12393863; 12413766; 12419930; 12456016; 12477932; 12482615; 12493396; 12524084; 12619035; 12645668; 12682635; 12690205; 12694198; 12695295; 12707786; 12713878; 12732844; 12757411; 12792760; 12812389; 12817761; 12821940; 12837287; 12837293; 12847110; 12853948; 12865405; 12875981; 12879228; 12883672; 12918110; 12932865; 14500721; 14512973; 14517989; 14519655; 14524531; 14555767; 14626426; 14647442; 14672920; 14679171; 14688531; 14694016; 14697967; 14699503; 14704632; 14764801; 14983012; 14989981; 15019814; 15059978; 15064106; 15087580; 15112327; 15120936; 15127882; 15153617; 15156160; 15160305; 15161915; 15167892; 15172968; 15191880; 15192042; 15203188; 15226629; 15229174; 15239259; 15240510; 15241561; 15250830; 15287857; 15292253; 15334679; 15359093; 15474099; 15489334; 15492846; 15502712; 15504551; 15504940; 15505094; 15525877; 15528455; 15537870; 15550554; 15590419; 15602080; 15608673; 15613483; 15637066; 15659325; 15678502; 15695515; 15717924; 15760460; 15770726; 15777839; 15781227; 15792801; 15824471; 15875782; 15880501; 15913806; 16000876; 16006475; 16014626; 16019534; 16039997; 16052207; 16083876; 16102116; 16136515; 16144920; 16216128; 16246197; 16278380; 16279944; 16303761; 16338307; 16403414; 16469801; 16498238; 16505200; 16554660; 16621453; 16627020; 16648972; 16651617; 16677802; 16684952; 16709175; 16709855; 16723436; 16728464; 16740060; 16790083; 16807517; 16849525; 16859527; 16861928; 16885407; 16902162; 16951184; 17062664; 17099727; 17143015; 17154373; 17178341; 17203235; 17215249; 17244893; 17262819; 17307814; 17322284; 17372204; 17384084; 17435158; 17452892; 17464544; 17518673; 17520376; 17593080; 17597814; 17599773; 17625116; 17625596; 17626784; 17702746; 17765959; 17872495; 17876341; 17901400; 17907155; 17911637; 17921114; 17942284; 17967179; 17971014; 17973092; 17981115; 17981731; 17992475; 18003605; 18004740; 18021988; 18024311; 18053801; 18059365; 18063891; 18065658; 18091351; 18096875; 18164961; 18234969; 18251163; 18264938; 18274928; 18291418; 18319552; 18326526; 18422749; 18424072; 18491380; 18495663; 18501120; 18504429; 18539758; 18564920; 18569024; 18585357; 18628208; 18691255; 18774952; 18787186; 18789327; 18812567; 18813782; 18844210; 18956268; 18973760; 18979225; 18992144; 19010854; 19020551; 19020737; 19021063; 19021204; 19023030; 19047046; 19050584; 19060265; 19114710; 19118941; 19127344; 19154948; 19184985; 19188684; 19223201; 19223316; 19230022; 19249525; 19281086; 19281453; 19318497; 19321255; 19386985; 19389925; 19416273; 19423096; 19423540; 19426716; 19433454; 19452723; 19468262; 19470725; 19471602; 19478261; 19508152; 19515220; 19521120; 19525225; 19526316; 19533745; 19542190; 19553700; 19563076; 19576567; 19615360; 19625133; 19628037; 19661216; 19661350; 19692652; 19713535; 19720831; 19749787; 19797611; 19817696; 19858036; 19888551; 19913121; 19939200; 19956874; 19959938; 19961885; 20005573; 20007454; 20015050; 20019837; 20021260; 20061986; 20066125; 20122738; 20129249; 20131016; 20150826; 20177149; 20178463; 20185166; 20200025; 20200161; 20203323; 20301607; 20372801; 20406964; 20424473; 20438785; 20483455; 20519660; 20533298; 20534479; 20558345; 20568106; 20580899; 20584902; 20628086; 20661229; 20670691; 20699604; 20728428; 20819464; 20819770; 20852387; 20930612; 20937841; 20977675; 20980460; 21042281; 21082280; 21131364; 21131996; 21168200; 21183732; 21187969; 21226996; 21234230; 21249190; 21342325; 21360495; 21362320; 21376809; 21395178; 21396819; 21411099; 21423210; 21427651; 21440951; 21447729; 21459729; 21486864; 21520010; 21561997; 21572126; 21643812; 21658389; 21703533; 21723061; 21750433; 21777671; 21779929; 21782801; 21784852; 21796631; 21872356; 21897747; 21899661; 21920521; 21922134; 21932108; 22003120; 22040972; 22127603; 22136730; 22172411; 22178588; 22203985; 22242160; 22252121; 22276607; 22286923; 22318499; 22354962; 22392903; 22413835; 22426494; 22435662; 22436613; 22441736; 22447520; 22495710; 22509107; 22629140; 22641068; 22675553; 22689693; 22722904; 22730814; 22741575; 22744972; 22749438; 22763439; 22771249; 22788978; 22802291; 22843899; 22848710; 22850551; 22854048; 22876972; 22892737; 22915589; 22936342; 22953646; 22989111; 22996389; 23045285; 23047829; 23049908; 23053181; 23081981; 23094709; 23123275; 23134111; 23154434; 23212923; 23273597; 23288153; 23314853; 23320110; 23327866; 23333382; 23359207; 23386689; 23402812; 23431957; 23484149; 23498810; 23499762; 23532910; 23536720; 23549785; 23585864; 23657814; 23667593; 23737134; 23773083; 23882082; 23898085; 23924923; 24018067; 24055447; 24099107; 24118504; 24126105 hepatocyte growth factor (hepapoietin A; scatter factor) Ensembl:ENSG00000019991 HGNC:4893 HPRD:00799 MIM:142409 Vega:OTTHUMG00000023804 Other designations: fibroblast-derived tumor cytotoxic factor|hepatocyte growth factor|hepatopoeitin-A|hepatopoietin-A|lung fibroblast-derived mitogen HGF Bin Zhao, Yue Liu, Oliver He ARIA GGF GGF2 HGL HRG HRG1 HRGA MST131 NDF SMDF WEB: http://www.ncbi.nlm.nih.gov/gene NRG1 neuregulin 1 3084 8p12 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0000165 (EC: IEA); GO_0000902 (EC: IEA); GO_0003161 (EC: IEA); GO_0003222 (EC: IDA, PMID: 17336907); GO_0003712 (EC: IDA, PMID: 15073182); GO_0005102 (EC: IPI, PMID: 7514177); GO_0005125 (EC: TAS, PMID: 10372964); GO_0005176 (EC: IEA); GO_0005515 (EC: IPI, PMID: 7592681); GO_0005576 (EC: NAS, PMID: 1348215); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 11389077); GO_0005634 (EC: IEA); GO_0005737 (EC: IEA); GO_0005887 (EC: IEA); GO_0007154 (EC: TAS, PMID: 17432114); GO_0007169 (EC: IDA, PMID: 7514177); GO_0007171 (EC: IDA, PMID: 9553078); GO_0007171 (EC: NAS, PMID: 1348215); GO_0007173 (EC: TAS); GO_0007399 (EC: TAS, PMID: 17432114); GO_0007416 (EC: IEA); GO_0007422 (EC: IEA); GO_0007626 (EC: IEA); GO_0008083 (EC: IDA, PMID: 11389077); GO_0008083 (EC: NAS, PMID: 8096067); GO_0008283 (EC: IDA, PMID: 11389077); GO_0008543 (EC: TAS); GO_0009790 (EC: IEA); GO_0010667 (EC: IDA, PMID: 9553078); GO_0014032 (EC: TAS, PMID: 17432114); GO_0016020 (EC: NAS, PMID: 8096067); GO_0016324 (EC: IDA, PMID: 12646923); GO_0016477 (EC: IEA); GO_0021781 (EC: IEA); GO_0030296 (EC: IDA, PMID: 7556068); GO_0030297 (EC: IC, PMID: 9553078); GO_0030297 (EC: NAS, PMID: 1348215); GO_0030307 (EC: IDA, PMID: 9553078); GO_0030424 (EC: IEA); GO_0030879 (EC: TAS, PMID: 17432114); GO_0030971 (EC: NAS, PMID: 1348215); GO_0031594 (EC: IEA); GO_0038095 (EC: TAS); GO_0038127 (EC: IDA, PMID: 11389077); GO_0042060 (EC: IDA, PMID: 12646923); GO_0042060 (EC: TAS, PMID: 16412517); GO_0042177 (EC: IEA); GO_0043125 (EC: IDA, PMID: 7556068); GO_0043125 (EC: IPI, PMID: 11389077); GO_0043496 (EC: TAS, PMID: 16412517); GO_0043497 (EC: IDA, PMID: 10559227); GO_0043624 (EC: IGI, PMID: 15155732); GO_0045087 (EC: TAS); GO_0045213 (EC: IEA); GO_0045785 (EC: IDA, PMID: 7556068); GO_0045892 (EC: IDA, PMID: 15073182); GO_0046579 (EC: IEA); GO_0048011 (EC: TAS); GO_0048015 (EC: TAS); GO_0048663 (EC: IEA); GO_0051048 (EC: IDA, PMID: 10559227); GO_0051155 (EC: ISS); GO_0051897 (EC: IEA); GO_0055007 (EC: ISS); GO_0055012 (EC: IDA, PMID: 9553078); GO_0060045 (EC: IDA, PMID: 9553078); GO_0060379 (EC: IDA, PMID: 17336907); GO_0060956 (EC: IDA, PMID: 17336907); GO_0061098 (EC: IDA, PMID: 7556068); GO_2001240 (EC: IDA, PMID: 9553078) PMID: 1348215; 1350381; 7509448; 7514177; 7556068; 7592681; 7689552; 7721889; 7730382; 7782315; 7876250; 7903175; 8062828; 8095334; 8096067; 8125298; 8325659; 8702572; 9168114; 9168115; 9333014; 9342050; 9553078; 9565587; 9685409; 10372964; 10523851; 10537356; 10559227; 10585499; 10597312; 11116142; 11389077; 11555649; 11896060; 12082616; 12145742; 12204892; 12471041; 12477932; 12478479; 12509456; 12528817; 12556556; 12600989; 12646923; 12768307; 12800145; 12808428; 12874607; 14569272; 14632199; 14647391; 14699424; 14702039; 14729827; 14966480; 15007393; 15073182; 15155732; 15159416; 15162166; 15197397; 15219675; 15248869; 15276238; 15303101; 15326116; 15466169; 15489334; 15494726; 15498868; 15527969; 15538186; 15545978; 15584912; 15609326; 15645137; 15703820; 15897877; 15939841; 16082692; 16155362; 16158055; 16189508; 16219117; 16219118; 16249994; 16287046; 16326006; 16344560; 16412517; 16428439; 16442083; 16446404; 16470843; 16483744; 16520822; 16526041; 16618933; 16638076; 16687441; 16690615; 16730337; 16767099; 16825199; 16867224; 16868568; 16891421; 16940976; 17033632; 17072305; 17214955; 17275115; 17300918; 17336907; 17336946; 17366345; 17405926; 17408693; 17432114; 17447867; 17499242; 17503451; 17519028; 17562386; 17565985; 17598910; 17602072; 17631867; 17652086; 17884806; 17901998; 17903296; 17925794; 17941827; 17962208; 18032396; 18159252; 18180429; 18193072; 18198266; 18234478; 18255317; 18282690; 18286587; 18291420; 18395550; 18455303; 18455369; 18466879; 18466881; 18470533; 18494263; 18494554; 18497096; 18516516; 18543275; 18571900; 18583979; 18584117; 18585932; 18606232; 18668031; 18704261; 18714568; 18728681; 18798975; 18799465; 18806920; 19054571; 19058791; 19086053; 19127563; 19148499; 19150438; 19156152; 19184335; 19196962; 19199244; 19229203; 19269083; 19306381; 19328558; 19339916; 19350564; 19367581; 19367584; 19394386; 19439994; 19448847; 19449332; 19497323; 19521112; 19545856; 19556605; 19569180; 19573260; 19575259; 19594860; 19597049; 19626024; 19644050; 19652122; 19659570; 19733651; 19736351; 19782967; 19797898; 19801490; 19802002; 19913121; 19913623; 19937977; 19965935; 19967439; 20036336; 20061032; 20102668; 20182055; 20215529; 20218976; 20227043; 20371257; 20374152; 20379614; 20427670; 20435087; 20472376; 20497232; 20520724; 20526724; 20580130; 20582876; 20625696; 20628086; 20638435; 20671236; 20682778; 20736300; 20800603; 20921115; 20926259; 20927045; 20978455; 21035784; 21041608; 21057508; 21127983; 21234898; 21239627; 21246584; 21247898; 21283760; 21368034; 21371516; 21437657; 21467033; 21512575; 21546767; 21555713; 21576249; 21653853; 21706185; 21716252; 21745728; 21792199; 21840482; 21858616; 21865659; 21965611; 22019858; 22027878; 22042562; 22052506; 22158511; 22183611; 22200588; 22209534; 22216327; 22226049; 22226548; 22249266; 22249457; 22267200; 22350758; 22377709; 22378022; 22378872; 22414959; 22425775; 22467496; 22494484; 22504067; 22520967; 22563075; 22574178; 22590542; 22613991; 22739235; 22790889; 22832904; 22886427; 22891299; 22944276; 22968213; 22974608; 22999558; 23032943; 23035098; 23104879; 23148218; 23213231; 23247143; 23253390; 23301017; 23308187; 23328545; 23360725; 23399902; 23400839; 23408906; 23468880; 23480537; 23489597; 23524320; 23572145; 23590603; 23625463; 23632455; 23739962; 23870195; 23934736; 23937725; 24097984; 24112719 neuregulin 1 Ensembl:ENSG00000157168 HGNC:7997 HPRD:00802 MIM:142445 Vega:OTTHUMG00000163918 Other designations: MSTP131|glial growth factor|heregulin, alpha (45kD, ERBB2 p185-activator)|neu differentiation factor|neuregulin 1 type IV beta 1a|neuregulin 1 type IV beta 3|pro-NRG1|pro-neuregulin-1, membrane-bound isoform|sensory and motor neuron derived factor NRG1 Bin Zhao, Yue Liu, Oliver He CD CELIAC1 DQ-A1 GSE HLA-DQA WEB: http://www.ncbi.nlm.nih.gov/gene HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 3117 DAQB-109B10.1 6p21.3 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0000139 (EC: TAS); GO_0005765 (EC: TAS); GO_0005886 (EC: TAS); GO_0005887 (EC: NAS, PMID: 3584986); GO_0006955 (EC: NAS, PMID: 3584986); GO_0010008 (EC: IEA); GO_0012507 (EC: TAS); GO_0019221 (EC: TAS); GO_0019886 (EC: TAS); GO_0030658 (EC: TAS); GO_0030666 (EC: TAS); GO_0030669 (EC: TAS); GO_0031295 (EC: TAS); GO_0032395 (EC: NAS, PMID: 3584986); GO_0032395 (EC: TAS, PMID: 2300572); GO_0032588 (EC: TAS); GO_0042613 (EC: IEA); GO_0050852 (EC: TAS); GO_0060333 (EC: TAS); GO_0071556 (EC: TAS) PMID: 1362295; 1869305; 1967269; 1978941; 2212675; 2300572; 2493052; 2513578; 2543930; 2777341; 2846691; 2888727; 2892884; 3036828; 3129499; 3259543; 3372263; 3489470; 3584986; 3610256; 3879967; 6415485; 6576979; 6584734; 6585297; 6815651; 7512597; 7541827; 7602119; 7974465; 8084338; 8168144; 8376762; 8896565; 8929711; 9079699; 9271631; 9349615; 9497251; 10395113; 10661406; 10729169; 11014350; 11024583; 11034591; 11048639; 11082515; 11082516; 11082517; 11097225; 11098934; 11115839; 11118029; 11118314; 11146462; 11157139; 11165718; 11168337; 11169241; 11171832; 11179016; 11181188; 11182227; 11195230; 11218373; 11222331; 11246532; 11257148; 11260506; 11261221; 11263477; 11272094; 11289148; 11294566; 11294926; 11318984; 11334677; 11424637; 11428493; 11454644; 11476905; 11477477; 11482129; 11495087; 11502807; 11532022; 11543892; 11543893; 11555411; 11556984; 11580849; 11593029; 11672906; 11678027; 11678832; 11704283; 11704285; 11716174; 11718025; 11724418; 11776098; 11776160; 11780465; 11782273; 11783381; 11798899; 11802952; 11819534; 11827988; 11836687; 11836690; 11839711; 11841488; 11845225; 11862400; 11891937; 11895223; 11900275; 11903620; 11904677; 11914753; 11916167; 11916169; 11920855; 11929589; 11929590; 11929591; 11935333; 11950806; 11953202; 11972875; 11972877; 11972882; 11994765; 11997714; 12021129; 12021131; 12021137; 12021139; 12021143; 12021150; 12021152; 12027934; 12039527; 12050583; 12063795; 12070003; 12074713; 12100571; 12121676; 12125959; 12137324; 12139680; 12144622; 12144633; 12149602; 12151439; 12165956; 12189808; 12209609; 12212201; 12242463; 12242468; 12358854; 12364641; 12370403; 12421937; 12427289; 12443029; 12445319; 12453977; 12464650; 12477932; 12485471; 12493453; 12507821; 12594107; 12639765; 12648281; 12651073; 12651074; 12665009; 12665010; 12665014; 12666382; 12667357; 12687342; 12734793; 12753657; 12765483; 12771724; 12778461; 12786999; 12823770; 12836198; 12890388; 12911285; 12921878; 12941547; 12941548; 12944708; 12948297; 12956878; 12970439; 12974555; 12974796; 13130476; 14522093; 14527201; 14550622; 14562382; 14574404; 14581805; 14592217; 14602216; 14607903; 14623754; 14641517; 14651525; 14651526; 14700595; 14700596; 14734754; 14740435; 14752708; 14964841; 14990915; 15003812; 15009181; 15009387; 15016191; 15019597; 15027205; 15030582; 15041165; 15049049; 15055351; 15059369; 15070884; 15077289; 15078178; 15083289; 15089901; 15107633; 15109436; 15112906; 15120190; 15120193; 15121303; 15164528; 15174785; 15191519; 15191952; 15192842; 15194762; 15219382; 15227724; 15231205; 15237447; 15243926; 15245541; 15250035; 15257408; 15259342; 15298337; 15300424; 15301863; 15303984; 15305487; 15307871; 15309343; 15310011; 15323271; 15336779; 15346196; 15347442; 15361135; 15448101; 15471368; 15476152; 15479890; 15489334; 15489916; 15496201; 15498363; 15522921; 15529361; 15530631; 15535834; 15548263; 15565951; 15572392; 15602651; 15603874; 15613143; 15622476; 15642902; 15643010; 15652424; 15660729; 15688398; 15691311; 15699500; 15699508; 15699512; 15703957; 15713222; 15725578; 15735807; 15750822; 15756536; 15780746; 15789899; 15826953; 15834022; 15842729; 15853899; 15853900; 15853903; 15863864; 15871822; 15900489; 15908298; 15935893; 15993714; 15996167; 16042197; 16049290; 16091223; 16096857; 16101833; 16112029; 16142706; 16169070; 16225776; 16231148; 16234023; 16242130; 16254435; 16267409; 16276008; 16277897; 16331578; 16343061; 16354571; 16386646; 16390391; 16409268; 16430717; 16433795; 16451208; 16454711; 16464953; 16484124; 16507114; 16540751; 16567828; 16579847; 16609350; 16629714; 16690412; 16691379; 16698430; 16709874; 16712649; 16720211; 16720217; 16731854; 16733891; 16792673; 16803690; 16829307; 16831288; 16836882; 16849401; 16865785; 16866887; 16875346; 16878175; 16879749; 16883532; 16883543; 16890076; 16890179; 16891216; 16911023; 16916661; 16922942; 16941709; 16964961; 17016821; 17021767; 17029208; 17062033; 17133612; 17182961; 17203524; 17234427; 17257319; 17305280; 17306585; 17329717; 17344279; 17350686; 17387388; 17406854; 17445172; 17445173; 17460569; 17484621; 17489940; 17498269; 17505501; 17541908; 17554300; 17558408; 17559688; 17578052; 17584581; 17604825; 17641683; 17652306; 17652848; 17661909; 17662590; 17673320; 17678725; 17714036; 17714903; 17722299; 17785583; 17845309; 17869653; 17893434; 17900288; 17906106; 17911430; 17919266; 17919990; 17959659; 17997607; 18003662; 18007983; 18028350; 18036312; 18038917; 18039812; 18057383; 18073310; 18084828; 18177450; 18198357; 18200971; 18204098; 18211635; 18236804; 18240225; 18241227; 18252895; 18257894; 18273032; 18273034; 18279642; 18282752; 18292551; 18292987; 18316396; 18331414; 18339073; 18347100; 18356750; 18381784; 18401547; 18427198; 18449200; 18504544; 18509540; 18523354; 18535809; 18562179; 18565729; 18569076; 18585974; 18592918; 18593440; 18668548; 18694972; 18721466; 18726686; 18728522; 18756979; 18758464; 18769865; 18774995; 18780165; 18852273; 18930994; 18932050; 18945465; 18978792; 18987644; 18987854; 19052350; 19052351; 19055605; 19116923; 19120276; 19120278; 19122664; 19124916; 19143810; 19143811; 19143812; 19143818; 19143820; 19143821; 19149577; 19154326; 19159415; 19167759; 19196481; 19200828; 19200845; 19207936; 19210322; 19251712; 19254248; 19254257; 19255754; 19286445; 19295542; 19299434; 19332095; 19349081; 19380721; 19401421; 19407364; 19410617; 19429597; 19449444; 19474744; 19478349; 19479859; 19493426; 19500688; 19539001; 19543113; 19544559; 19561379; 19565552; 19571809; 19571811; 19585166; 19587357; 19589487; 19596691; 19597844; 19620308; 19654877; 19698125; 19722042; 19769302; 19770068; 19811310; 19833889; 19837788; 19845915; 19851445; 19858318; 19884265; 19890026; 19895409; 19896518; 19906105; 19913121; 19956635; 19961590; 20012522; 20014019; 20018961; 20031464; 20061363; 20073143; 20075704; 20138312; 20169624; 20190752; 20210919; 20301720; 20337975; 20380523; 20410501; 20443243; 20445565; 20462039; 20472930; 20492597; 20492599; 20522202; 20559009; 20561992; 20569042; 20587610; 20595243; 20608062; 20617178; 20628086; 20639878; 20668555; 20694011; 20718347; 20725783; 20739684; 20798335; 20800921; 20843162; 20849903; 20966625; 21049023; 21059899; 21059907; 21067613; 21072187; 21118624; 21131588; 21198394; 21245432; 21257290; 21270202; 21297633; 21323541; 21399633; 21408207; 21418452; 21485073; 21502966; 21623257; 21653640; 21694611; 21720852; 21741664; 21744463; 21775680; 21778700; 21779181; 21906983; 21917268; 21922073; 21943816; 21988832; 22103833; 22103834; 22105689; 22106694; 22117902; 22175768; 22184118; 22289814; 22357454; 22362761; 22371247; 22455414; 22493691; 22503410; 22658931; 22662777; 22781038; 22787139; 22799313; 22807686; 22860026; 22892251; 23036492; 23085892; 23128233; 23181788; 23194743; 23212062; 23257407; 23266558; 23291585; 23303446; 23317308; 23321320; 23349640; 23376458; 23378606; 23380142; 23414771; 23428460; 23441825; 23454623; 23472185; 23482656; 23511034; 23535732; 23596045; 23628390; 23813219; 23817569; 23817571; 23850713; 23911394; 23918589; 24097066; 24510573 major histocompatibility complex, class II, DQ alpha 1 Ensembl:ENSG00000196735 HGNC:4942 HPRD:06765 MIM:146880 Vega:OTTHUMG00000031106 Other designations: DC-1 alpha chain|DC-alpha|HLA class II histocompatibility antigen, DQ alpha 1 chain|HLA class II histocompatibility antigen, DQ(W3) alpha chain|HLA-DCA|MHC HLA-DQ alpha|MHC class II DQA1|MHC class II HLA-D alpha glycoprotein|MHC class II HLA-DQ-alpha-1|MHC class II antigen|MHC class II surface glycoprotein|leucocyte antigen DQA1|leukocyte antigen alpha chain HLA-DQA1 Bin Zhao, Yue Liu, Oliver He CELIAC1 HLA-DQB IDDM1 WEB: http://www.ncbi.nlm.nih.gov/gene HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 3119 DADB-249P12.2 6p21.3 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0000139 (EC: TAS); GO_0002381 (EC: IDA, PMID: 17050030); GO_0002455 (EC: IDA, PMID: 17050030); GO_0005765 (EC: TAS); GO_0005886 (EC: TAS); GO_0006955 (EC: NAS, PMID: 2998758); GO_0010008 (EC: IEA); GO_0012507 (EC: TAS); GO_0016020 (EC: NAS, PMID: 2998758); GO_0019221 (EC: TAS); GO_0019886 (EC: TAS); GO_0030658 (EC: TAS); GO_0030666 (EC: TAS); GO_0030669 (EC: TAS); GO_0031295 (EC: TAS); GO_0032395 (EC: NAS, PMID: 2998758); GO_0032588 (EC: TAS); GO_0042613 (EC: IEA); GO_0050852 (EC: TAS); GO_0060333 (EC: TAS); GO_0071556 (EC: TAS) PMID: 1412415; 1490342; 1978941; 2010218; 2022497; 2050393; 2187469; 2212675; 2308943; 2464826; 2494138; 2543930; 2777341; 2846691; 2881947; 2886427; 2888727; 2890689; 2892884; 2894075; 2895927; 2897347; 2925231; 2998758; 3020127; 3036828; 3117885; 3129499; 3259543; 3371836; 3458223; 3489470; 3494674; 3494717; 3584986; 6206493; 6316358; 6415003; 6422542; 6576979; 6585297; 6952222; 6952552; 6954511; 7541827; 7547576; 7602119; 8072542; 8084338; 8146865; 8376762; 8525485; 8929711; 8988541; 8988543; 9036956; 9079699; 9271631; 9296067; 9458130; 9802612; 10323344; 10661406; 10729169; 10998087; 11024583; 11027344; 11034591; 11045836; 11048639; 11053637; 11064106; 11082515; 11082516; 11082517; 11097225; 11098934; 11098940; 11115839; 11118029; 11118314; 11120931; 11124840; 11157139; 11158011; 11165717; 11165718; 11169240; 11169241; 11169242; 11169248; 11171832; 11179016; 11181188; 11182227; 11195230; 11218373; 11229460; 11233253; 11239517; 11246532; 11250044; 11250046; 11257148; 11260508; 11285127; 11285131; 11288988; 11291046; 11294566; 11296153; 11317658; 11318984; 11327387; 11334427; 11334675; 11334677; 11345587; 11347740; 11376336; 11393660; 11423176; 11423178; 11423179; 11424637; 11454644; 11469465; 11474874; 11476905; 11476906; 11477477; 11484084; 11495087; 11502807; 11532022; 11535811; 11543893; 11555411; 11556984; 11580849; 11588129; 11592043; 11593029; 11600541; 11672906; 11678027; 11678832; 11679920; 11683403; 11704285; 11723075; 11724418; 11724419; 11736906; 11752507; 11756990; 11776098; 11776160; 11780465; 11782272; 11782273; 11783381; 11802942; 11802952; 11804200; 11812768; 11827988; 11839711; 11841366; 11841486; 11845225; 11862400; 11864433; 11872237; 11872662; 11881821; 11888582; 11894970; 11895223; 11900275; 11903620; 11904677; 11914751; 11914753; 11916167; 11916169; 11920855; 11923913; 11929589; 11929590; 11929591; 11934390; 11935333; 11950806; 11953202; 11972875; 11972877; 11972882; 11978563; 11984513; 11985790; 11994765; 11997714; 12010826; 12021129; 12021131; 12021132; 12021137; 12021139; 12021143; 12021150; 12021152; 12027934; 12028537; 12039527; 12050583; 12070003; 12071546; 12072047; 12074713; 12077712; 12083823; 12089669; 12090587; 12100571; 12107223; 12109964; 12121676; 12124873; 12125959; 12134251; 12137324; 12139680; 12144621; 12144622; 12144623; 12144625; 12144632; 12145745; 12149602; 12150008; 12151439; 12170471; 12196893; 12209103; 12209609; 12233873; 12235085; 12235090; 12270547; 12296785; 12356573; 12358854; 12358858; 12362498; 12364437; 12364641; 12366783; 12366785; 12366792; 12370403; 12373032; 12392858; 12405606; 12405608; 12410803; 12443029; 12445309; 12445315; 12445316; 12447731; 12453977; 12455817; 12464650; 12472657; 12477932; 12493453; 12507821; 12507826; 12513847; 12515291; 12542740; 12543794; 12556916; 12574360; 12579512; 12590979; 12594107; 12605834; 12618908; 12622778; 12639765; 12648278; 12648281; 12651073; 12651074; 12656131; 12665835; 12666382; 12687342; 12694584; 12694585; 12694588; 12721173; 12721936; 12734793; 12753657; 12753667; 12757179; 12765483; 12770797; 12771724; 12774051; 12778461; 12786999; 12787001; 12788886; 12793199; 12794545; 12820696; 12823769; 12825172; 12835080; 12836198; 12878355; 12878360; 12878363; 12887819; 12890388; 12911285; 12911663; 12917799; 12921878; 12941076; 12948297; 12956878; 12970439; 12974555; 12974796; 14504973; 14508706; 14510801; 14514946; 14551034; 14562382; 14567462; 14581805; 14592217; 14602216; 14617034; 14623754; 14648147; 14655281; 14662898; 14669136; 14675393; 14677183; 14679080; 14680508; 14686115; 14693734; 14694619; 14700595; 14700596; 14702039; 14718045; 14740435; 14752708; 14762600; 14769912; 14964841; 14967485; 14988284; 14990915; 14995006; 15003812; 15009181; 15009387; 15009808; 15013978; 15014429; 15016191; 15019597; 15030582; 15037989; 15041165; 15049049; 15055351; 15057902; 15059369; 15061705; 15070884; 15078178; 15083289; 15089899; 15089901; 15095040; 15096192; 15104683; 15107633; 15109436; 15112906; 15116308; 15120190; 15120191; 15120192; 15122136; 15128924; 15144462; 15144476; 15149287; 15157381; 15164528; 15174785; 15185301; 15191519; 15191529; 15194283; 15194331; 15194762; 15199166; 15202948; 15203870; 15219382; 15231205; 15237447; 15239092; 15242955; 15245369; 15245541; 15248208; 15250035; 15257408; 15259342; 15298337; 15300424; 15300636; 15301861; 15301863; 15301976; 15302166; 15304010; 15305234; 15305487; 15309343; 15310011; 15334474; 15336778; 15336779; 15336786; 15350494; 15357778; 15361135; 15373622; 15388265; 15448101; 15449022; 15452304; 15462607; 15471368; 15471889; 15476152; 15476187; 15479890; 15489334; 15489916; 15496200; 15496201; 15496208; 15507397; 15522921; 15529553; 15530631; 15531903; 15536412; 15546341; 15548263; 15556690; 15561961; 15565951; 15572392; 15577839; 15602651; 15603874; 15603876; 15613143; 15617864; 15640608; 15645749; 15652424; 15655774; 15660729; 15661220; 15663743; 15664787; 15666025; 15691311; 15696102; 15699400; 15699500; 15699508; 15699512; 15703453; 15703957; 15708894; 15712014; 15713222; 15725578; 15734871; 15735807; 15747244; 15750822; 15756536; 15784113; 15785242; 15786423; 15789899; 15825968; 15826953; 15833172; 15842729; 15846589; 15851575; 15853898; 15853900; 15853903; 15853909; 15854524; 15858601; 15871822; 15885635; 15902698; 15906352; 15908298; 15935893; 15941540; 15958261; 15969672; 15982255; 15985473; 15991024; 15993714; 15993720; 15996167; 16005098; 16005527; 16011982; 16019679; 16025255; 16029431; 16042135; 16042197; 16043129; 16049290; 16053028; 16078082; 16091223; 16096810; 16096857; 16101833; 16107511; 16107953; 16109069; 16112029; 16112030; 16122986; 16125818; 16133177; 16142706; 16148166; 16157380; 16158194; 16180280; 16188098; 16201295; 16208405; 16225776; 16231148; 16234023; 16237774; 16242130; 16245224; 16254435; 16261886; 16267776; 16276008; 16277691; 16297186; 16303674; 16320082; 16337001; 16343061; 16352685; 16354571; 16358956; 16365741; 16386646; 16386650; 16390391; 16393997; 16405603; 16409268; 16420246; 16425277; 16426242; 16430717; 16433795; 16437632; 16441488; 16441489; 16451208; 16453260; 16454711; 16464953; 16473309; 16484124; 16507114; 16509868; 16540751; 16567828; 16573562; 16579847; 16604509; 16614815; 16629714; 16640876; 16691379; 16698430; 16709874; 16712649; 16720210; 16720217; 16731854; 16769963; 16781300; 16783473; 16792673; 16796128; 16799707; 16802776; 16803516; 16803690; 16829307; 16829309; 16836882; 16849401; 16857416; 16865785; 16866883; 16866885; 16875346; 16878175; 16879301; 16879749; 16883535; 16883536; 16883543; 16890076; 16890179; 16891216; 16893387; 16905561; 16911023; 16916661; 16916662; 16922942; 16939368; 16941709; 16948649; 16964961; 16966600; 16988007; 17002902; 17002906; 17016821; 17026464; 17047287; 17050030; 17062033; 17106278; 17119950; 17124999; 17126830; 17129633; 17130528; 17130566; 17130569; 17143607; 17144392; 17153701; 17162989; 17180363; 17190762; 17203517; 17203524; 17207713; 17212706; 17212715; 17234427; 17237562; 17256150; 17257313; 17257319; 17287608; 17297265; 17301827; 17305280; 17306585; 17310371; 17311339; 17318773; 17325942; 17329717; 17334650; 17344279; 17349874; 17350686; 17364902; 17370149; 17378697; 17379283; 17387388; 17388766; 17389012; 17389015; 17389030; 17392350; 17406641; 17406854; 17406941; 17407088; 17433060; 17437273; 17438108; 17445172; 17445173; 17460569; 17461431; 17484621; 17484883; 17489060; 17489940; 17498269; 17513705; 17531857; 17538887; 17541908; 17554059; 17554300; 17559577; 17559688; 17573956; 17576097; 17578051; 17578052; 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19210322; 19223392; 19227412; 19230186; 19246116; 19251712; 19254248; 19254255; 19254257; 19255754; 19272325; 19286445; 19290000; 19295542; 19295543; 19299434; 19317743; 19332095; 19342211; 19347328; 19349081; 19350523; 19364514; 19380721; 19390203; 19401421; 19404393; 19409091; 19410617; 19429597; 19439981; 19449444; 19458352; 19474744; 19478349; 19479859; 19480851; 19486004; 19487887; 19490211; 19490212; 19493426; 19500688; 19506770; 19523767; 19539001; 19539218; 19543113; 19544559; 19551681; 19553558; 19561379; 19565552; 19571811; 19585166; 19587357; 19589487; 19592628; 19593686; 19596691; 19597844; 19616314; 19620308; 19625333; 19653987; 19654407; 19654877; 19655145; 19663932; 19664674; 19668019; 19683555; 19690132; 19698125; 19703234; 19714482; 19722042; 19750928; 19758197; 19761839; 19769302; 19770068; 19812988; 19817985; 19819281; 19819768; 19820007; 19820376; 19833889; 19834793; 19837788; 19845915; 19851445; 19858318; 19861144; 19884273; 19890026; 19895409; 19896518; 19896562; 19906105; 19915493; 19922436; 19924143; 19927159; 19927780; 19931565; 19937591; 19956635; 19961590; 20002609; 20003135; 20012522; 20016199; 20031464; 20035815; 20051322; 20062572; 20073143; 20073992; 20082482; 20090103; 20101097; 20110394; 20120618; 20138312; 20141578; 20159242; 20169624; 20170930; 20190752; 20191588; 20193456; 20214848; 20225292; 20230523; 20230525; 20237496; 20298583; 20300660; 20301407; 20301492; 20301720; 20305777; 20307907; 20335219; 20337975; 20345871; 20345872; 20352225; 20380523; 20383147; 20392899; 20395221; 20403137; 20405713; 20443243; 20445565; 20453840; 20455895; 20462405; 20462916; 20463743; 20466734; 20472930; 20486920; 20492596; 20492597; 20492599; 20507388; 20510319; 20522202; 20536993; 20547426; 20549830; 20550778; 20559009; 20561992; 20569042; 20586801; 20595243; 20595679; 20603341; 20606439; 20608062; 20614846; 20631027; 20639878; 20639880; 20639881; 20666704; 20668555; 20670354; 20684489; 20685690; 20691532; 20711174; 20719952; 20725783; 20739684; 20798335; 20805278; 20823837; 20825955; 20836749; 20843162; 20849903; 20851016; 20858521; 20861181; 20868635; 20923326; 20923327; 20937338; 20966625; 20970669; 20975052; 20977916; 21029659; 21029690; 21031025; 21049023; 21059899; 21067613; 21075156; 21091360; 21108609; 21118624; 21133715; 21251479; 21318258; 21325036; 21388362; 21395562; 21399633; 21417892; 21418452; 21422625; 21533074; 21535077; 21570397; 21606539; 21633537; 21652028; 21670772; 21692766; 21694611; 21712058; 21720852; 21732917; 21741664; 21744463; 21750111; 21762399; 21778700; 21779181; 21796887; 21804548; 21896673; 21906983; 21917268; 21922073; 21943816; 21946350; 21955839; 22013116; 22032123; 22036600; 22103833; 22103834; 22106694; 22155912; 22175768; 22184118; 22218223; 22234791; 22272574; 22281000; 22284614; 22285112; 22289814; 22308705; 22326585; 22362761; 22404765; 22434102; 22493691; 22494469; 22509268; 22511809; 22521184; 22588649; 22594481; 22662777; 22786832; 22799313; 22860026; 22862152; 22876559; 22898764; 22913598; 22938381; 23028341; 23065995; 23085892; 23128233; 23136848; 23146381; 23177929; 23184486; 23218978; 23243276; 23257407; 23266558; 23278608; 23278646; 23284291; 23317308; 23318129; 23326239; 23331206; 23349640; 23376458; 23380142; 23420232; 23421483; 23428460; 23472185; 23535732; 23593151; 23628390; 23628399; 23710940; 23793423; 23806156; 23817569; 23817571; 23918589; 24050898; 24067471 major histocompatibility complex, class II, DQ beta 1 Ensembl:ENSG00000179344 HGNC:4944 HPRD:05054 MIM:604305 Vega:OTTHUMG00000031124 Other designations: HLA class II histocompatibility antigen, DQ beta 1 chain|MHC DQ beta|MHC class II DQ beta chain|MHC class II HLA-DQ beta glycoprotein|MHC class II antigen DQB1|MHC class II antigen HLA-DQ-beta-1|MHC class2 antigen|lymphocyte antigen HLA-DQB1 Bin Zhao, Yue Liu, Oliver He HLA-DRA1 MLRW WEB: http://www.ncbi.nlm.nih.gov/gene HLA-DRA major histocompatibility complex, class II, DR alpha 3122 DASS-397D15.1 6p21.3 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0000139 (EC: TAS); GO_0005764 (EC: IDA, PMID: 8890155); GO_0005765 (EC: IDA, PMID: 18305173); GO_0005765 (EC: TAS); GO_0005886 (EC: IDA, PMID: 8890155); GO_0005886 (EC: TAS); GO_0005887 (EC: NAS, PMID: 6304715); GO_0006955 (EC: NAS, PMID: 6304715); GO_0012507 (EC: TAS); GO_0019221 (EC: TAS); GO_0019886 (EC: TAS); GO_0023026 (EC: IDA); GO_0030658 (EC: TAS); GO_0030666 (EC: TAS); GO_0030669 (EC: TAS); GO_0031295 (EC: TAS); GO_0031902 (EC: IDA, PMID: 18305173); GO_0032395 (EC: NAS, PMID: 6304715); GO_0032588 (EC: TAS); GO_0042613 (EC: IEA); GO_0050852 (EC: TAS); GO_0060333 (EC: TAS); GO_0070062 (EC: IDA, PMID: 11487543); GO_0071556 (EC: TAS) PMID: 1448091; 1512535; 1869305; 1905983; 1967269; 1970352; 1978941; 2212658; 2543930; 2846691; 3266023; 3489470; 6304715; 6324094; 6403940; 6416803; 6422542; 6811954; 6812963; 6817331; 6821129; 6952207; 6952234; 6955026; 6955253; 7477400; 7512597; 7519244; 7541827; 7602119; 7629508; 7645219; 7648393; 7734415; 7835916; 7912458; 8084338; 8145819; 8152483; 8168144; 8316295; 8376762; 8450224; 8454872; 8574855; 8649448; 8773319; 8890155; 8920889; 9079699; 9310842; 9354468; 9371817; 9700202; 9759843; 9782128; 10480952; 10661406; 10716924; 10729169; 11048639; 11070170; 11118314; 11168931; 11181188; 11239948; 11260509; 11294926; 11298540; 11320565; 11361223; 11464148; 11487543; 11593029; 11742191; 11751963; 11777970; 11827988; 11854199; 11927549; 12006557; 12073071; 12074713; 12117677; 12202216; 12230470; 12244309; 12370403; 12373032; 12427289; 12445311; 12477932; 12580031; 12707403; 12836198; 12932352; 12970439; 14574404; 14736971; 14976194; 15078178; 15105429; 15194762; 15301866; 15361126; 15467430; 15489334; 15489916; 15536412; 15688398; 15784911; 15836703; 16091223; 16242130; 16341674; 16354571; 16454711; 16973583; 17411376; 17431094; 17507489; 17652306; 17660530; 17662350; 17959659; 18215421; 18270567; 18305173; 18371160; 18672082; 18836448; 18846964; 18931722; 18932050; 18939942; 18945465; 18987644; 19046302; 19047245; 19116923; 19117940; 19120278; 19122664; 19143821; 19149577; 19188433; 19204726; 19247692; 19287509; 19430480; 19449444; 19525953; 19620308; 19648278; 19660582; 19770068; 19820697; 19834503; 19851445; 19861958; 19913121; 20012522; 20041166; 20118277; 20159113; 20202859; 20228798; 20232575; 20237496; 20362271; 20378664; 20410501; 20458337; 20497195; 20546939; 20584675; 20587610; 20628086; 20686565; 20711177; 21037568; 21059907; 21072187; 21085635; 21282653; 21297633; 21482477; 21602797; 21653640; 21778700; 21779181; 21791235; 21804548; 21804607; 21898163; 21906983; 21922073; 22096524; 22103833; 22103834; 22175768; 22243834; 22286212; 22391069; 22541561; 22808111; 22860026; 22889831; 22890421; 23028341; 23028483; 23128233; 23264739; 23349640; 23449627; 23472185; 23535732; 23579001; 23850713; 23878500 major histocompatibility complex, class II, DR alpha Ensembl:ENSG00000204287 HGNC:4947 HPRD:00833 MIM:142860 Vega:OTTHUMG00000031269 Other designations: HLA class II histocompatibility antigen, DR alpha chain|MHC cell surface glycoprotein|MHC class II antigen DRA|histocompatibility antigen HLA-DR alpha HLA-DRA Bin Zhao, Yue Liu, Oliver He DRB1 DRw10 HLA-DR1B HLA-DRB SS1 WEB: http://www.ncbi.nlm.nih.gov/gene HLA-DRB1 major histocompatibility complex, class II, DR beta 1 3123 XXbac-BPG161M6.1 6p21.3 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0000139 (EC: TAS); GO_0002381 (EC: IDA, PMID: 17050030); GO_0002381 (EC: ISS); GO_0002437 (EC: ISS); GO_0002455 (EC: IDA, PMID: 17050030); GO_0002455 (EC: ISS); GO_0005765 (EC: IDA, PMID: 18305173); GO_0005765 (EC: TAS); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 3456344); GO_0006955 (EC: ISS); GO_0006955 (EC: NAS, PMID: 3129499); GO_0009897 (EC: ISS); GO_0012507 (EC: TAS); GO_0016020 (EC: NAS, PMID: 3129499); GO_0016045 (EC: ISS); GO_0019221 (EC: TAS); GO_0019886 (EC: TAS); GO_0023026 (EC: IDA); GO_0030658 (EC: TAS); GO_0030666 (EC: TAS); GO_0030669 (EC: TAS); GO_0031295 (EC: TAS); GO_0031902 (EC: IDA, PMID: 18305173); GO_0032395 (EC: NAS, PMID: 3129499); GO_0032395 (EC: TAS, PMID: 3456344); GO_0032588 (EC: TAS); GO_0032673 (EC: ISS); GO_0032689 (EC: ISS); GO_0035774 (EC: ISS); GO_0042088 (EC: ISS); GO_0042130 (EC: ISS); GO_0042605 (EC: ISS); GO_0042613 (EC: IEA); GO_0050852 (EC: TAS); GO_0051262 (EC: ISS); GO_0060333 (EC: TAS); GO_0070062 (EC: IDA, PMID: 12519789); GO_0071556 (EC: TAS); GO_2001179 (EC: ISS) PMID: 1370621; 1399719; 1428007; 1481205; 1541486; 1602009; 1688595; 1869305; 1905983; 1967269; 1970352; 1975801; 1978941; 1979063; 2003917; 2010223; 2023919; 2311644; 2342492; 2450924; 2453563; 2466818; 2471740; 2493052; 2497068; 2511168; 2541120; 2543930; 2592019; 2846691; 2884201; 2885840; 2998758; 3020127; 3099214; 3129499; 3137159; 3174462; 3259543; 3372263; 3456344; 3458223; 3466180; 3476943; 3489470; 3571980; 3858829; 3860851; 3875800; 6415003; 6589154; 6600932; 6947956; 6955026; 7512597; 7519244; 7541827; 7602119; 7642208; 7645219; 7652736; 7734415; 7878660; 7940503; 8016840; 8023844; 8084338; 8086129; 8106268; 8119741; 8145819; 8152483; 8168144; 8300408; 8316295; 8376762; 8406622; 8436426; 8450224; 8462990; 8550105; 8560457; 8612229; 8838355; 8883301; 8889548; 9062971; 9062980; 9079699; 9174151; 9223324; 9234492; 9354468; 9371817; 9500545; 9777332; 9782128; 9802612; 10203026; 10321590; 10425186; 10609818; 10661406; 10716924; 10729169; 10958361; 11014350; 11019926; 11027344; 11034591; 11045836; 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11672906; 11678027; 11678832; 11679920; 11704283; 11704285; 11704803; 11724419; 11742191; 11744483; 11751963; 11751969; 11756990; 11776098; 11780465; 11782272; 11782273; 11782380; 11782575; 11791643; 11797339; 11799174; 11802942; 11802982; 11812768; 11819862; 11821160; 11824952; 11827988; 11836687; 11839711; 11841366; 11841481; 11841486; 11841488; 11841495; 11842822; 11857064; 11857065; 11860796; 11860824; 11865153; 11868921; 11870103; 11872237; 11872240; 11873625; 11877480; 11881821; 11886480; 11888582; 11894970; 11895223; 11903620; 11904677; 11911111; 11914753; 11916167; 11920855; 11923913; 11927549; 11929589; 11929590; 11935333; 11950806; 11953976; 11961170; 11972875; 11972877; 11972881; 11972886; 11978563; 11979305; 11984513; 11985790; 11994765; 11997714; 12008082; 12010826; 12021129; 12021131; 12021137; 12021139; 12021152; 12022354; 12022360; 12028537; 12028548; 12028549; 12030733; 12039413; 12047361; 12047362; 12048293; 12058255; 12070003; 12071546; 12072187; 12073071; 12075003; 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23090223; 23110937; 23119005; 23128233; 23130884; 23139797; 23171011; 23176610; 23177929; 23180817; 23183775; 23184486; 23186557; 23200758; 23212062; 23218978; 23225889; 23232601; 23243276; 23246582; 23253237; 23257407; 23260142; 23264739; 23266558; 23273568; 23278646; 23283466; 23291585; 23302880; 23303446; 23312038; 23317308; 23318129; 23321172; 23321320; 23326239; 23328091; 23331206; 23349640; 23376085; 23378606; 23380141; 23380142; 23391249; 23392276; 23398374; 23404077; 23407388; 23413297; 23421483; 23472185; 23477965; 23482656; 23485854; 23507476; 23511034; 23535732; 23543758; 23555757; 23555798; 23556450; 23577190; 23588515; 23590002; 23593151; 23628399; 23636221; 23637323; 23638805; 23674880; 23737967; 23739956; 23742216; 23791106; 23793098; 23793423; 23834030; 23837503; 23850713; 23951151; 23992015; 24046013; 24097066; 24190431; 24295149; 24449572 major histocompatibility complex, class II, DR beta 1 Ensembl:ENSG00000196126 HGNC:4948 HPRD:08349 MIM:142857 Vega:OTTHUMG00000031196 Other designations: DW2.2/DR2.2|HLA class II histocompatibility antigen, DR-1 beta chain|MHC class II HLA-DR beta 1 chain|MHC class II HLA-DR-beta cell surface glycoprotein|MHC class II HLA-DRw10-beta|MHC class II antigen|human leucocyte antigen DRB1|lymphocyte antigen DRB1 HLA-DRB1 Bin Zhao, Yue Liu, Oliver He HMOX1D HO-1 HSP32 bK286B10 WEB: http://www.ncbi.nlm.nih.gov/gene HMOX1 heme oxygenase (decycling) 1 3162 CTA-286B10.6 22q13.1 20140408 9606 22 protein-coding Official from a nomenclature committee GO_0001525 (EC: TAS, PMID: 12239590); GO_0001935 (EC: TAS, PMID: 12239590); GO_0002246 (EC: IMP, PMID: 9884342); GO_0002686 (EC: TAS, PMID: 14525760); GO_0004392 (EC: IDA, PMID: 17915953); GO_0004392 (EC: IMP, PMID: 19556236); GO_0004630 (EC: IEA); GO_0004871 (EC: IMP, PMID: 12761501); GO_0005615 (EC: TAS, PMID: 18307065); GO_0005634 (EC: ISS); GO_0005730 (EC: IEA); GO_0005783 (EC: IDA, PMID: 19556236); GO_0005783 (EC: ISS); GO_0005789 (EC: TAS); GO_0005829 (EC: IEA); GO_0005901 (EC: IEA); GO_0006778 (EC: TAS); GO_0006788 (EC: IDA, PMID: 17915953); GO_0006879 (EC: TAS); GO_0006979 (EC: IMP, PMID: 9884342); GO_0007264 (EC: IEA); GO_0007588 (EC: IC, PMID: 17915953); GO_0008217 (EC: IEA); GO_0008219 (EC: ISS); GO_0008630 (EC: IEA); GO_0010656 (EC: IEA); GO_0014806 (EC: TAS, PMID: 18289072); GO_0016020 (EC: TAS, PMID: 3345742); GO_0019899 (EC: ISS, PMID: 15516695); GO_0020037 (EC: IDA, PMID: 17915953); GO_0031670 (EC: IEA); GO_0032764 (EC: IEA); GO_0034101 (EC: IMP, PMID: 9884342); GO_0034383 (EC: TAS, PMID: 9884342); GO_0035094 (EC: IDA, PMID: 18205746); GO_0035556 (EC: TAS, PMID: 17652371); GO_0042167 (EC: IDA, PMID: 17915953); GO_0042167 (EC: TAS); GO_0042542 (EC: ISS); GO_0042803 (EC: IDA, PMID: 19556236); GO_0043123 (EC: IMP, PMID: 12761501); GO_0043305 (EC: IEA); GO_0043392 (EC: IEA); GO_0043433 (EC: IEA); GO_0043524 (EC: IEA); GO_0043619 (EC: ISS); GO_0043627 (EC: IEA); GO_0044281 (EC: TAS); GO_0045080 (EC: TAS, PMID: 17652371); GO_0045765 (EC: TAS, PMID: 17652371); GO_0045766 (EC: IEA); GO_0045909 (EC: IC, PMID: 17915953); GO_0046872 (EC: IEA); GO_0048661 (EC: IDA, PMID: 17600318); GO_0048662 (EC: IDA, PMID: 17600318); GO_0051090 (EC: ISS); GO_0051260 (EC: IDA, PMID: 19556236); GO_0055072 (EC: IDA, PMID: 17915953); GO_0055072 (EC: IMP, PMID: 9884342); GO_0055085 (EC: TAS); GO_0071243 (EC: IEA); GO_0071276 (EC: IEA); GO_0071456 (EC: IEP, PMID: 12511571); GO_1902042 (EC: IMP, PMID: 18202225) PMID: 2537723; 2911585; 3345742; 7778849; 8034330; 8146161; 8650873; 9884342; 9890653; 10082382; 10467099; 10591208; 10631150; 10952020; 11385506; 11718398; 11727267; 11786534; 11820797; 11829463; 11849436; 11986386; 12086318; 12091240; 12099373; 12117910; 12118938; 12130498; 12133007; 12136229; 12151344; 12153964; 12182912; 12202863; 12207883; 12222997; 12239590; 12376298; 12376363; 12376366; 12377749; 12379283; 12396617; 12397597; 12431619; 12433915; 12469218; 12477932; 12480749; 12493432; 12500973; 12511571; 12566526; 12579334; 12585963; 12626517; 12649161; 12679469; 12690112; 12709566; 12709568; 12709569; 12709590; 12709592; 12716475; 12730098; 12736395; 12761501; 12777398; 12783778; 12805077; 12810075; 12832044; 12842469; 12865654; 12872043; 12891549; 12909459; 12927812; 12927819; 12933701; 12941774; 12947311; 12969148; 13678532; 14521259; 14523007; 14525760; 14529548; 14587309; 14615405; 14635185; 14647439; 14660632; 14683741; 14691581; 14715242; 14726403; 14733911; 14981149; 14988408; 14992466; 15004156; 15024026; 15028349; 15049686; 15064108; 15084931; 15140586; 15161530; 15166181; 15184199; 15233805; 15284058; 15285018; 15297453; 15316927; 15319861; 15336443; 15337692; 15342556; 15365571; 15451051; 15461802; 15465821; 15470195; 15474356; 15516695; 15519649; 15522396; 15525643; 15544924; 15547665; 15581622; 15611319; 15618017; 15629867; 15652505; 15661856; 15688187; 15690204; 15741166; 15763346; 15797262; 15797755; 15805230; 15817713; 15833736; 15834587; 15849554; 15875813; 15878918; 15885363; 15897578; 15899048; 15964514; 16020495; 16100019; 16117883; 16123320; 16154535; 16181102; 16189191; 16210136; 16232329; 16234431; 16249618; 16271489; 16309585; 16309586; 16309588; 16313248; 16319139; 16374439; 16387424; 16399210; 16455537; 16462769; 16474202; 16485041; 16495813; 16530877; 16540907; 16545694; 16582079; 16596642; 16609364; 16620829; 16697692; 16712795; 16724942; 16771696; 16772700; 16783602; 16804400; 16840713; 16849502; 16882737; 16887359; 16923960; 16945925; 16950787; 16951197; 16971418; 16999951; 17003650; 17018578; 17018862; 17020887; 17064313; 17065227; 17079780; 17081983; 17095719; 17203192; 17204476; 17211576; 17216339; 17219054; 17229906; 17244614; 17254481; 17277740; 17295091; 17389623; 17391133; 17400606; 17413033; 17452746; 17467999; 17511591; 17520317; 17526019; 17526500; 17531161; 17541213; 17558910; 17567933; 17600318; 17601350; 17603281; 17620093; 17652371; 17657593; 17667816; 17721824; 17726138; 17823375; 17853070; 17873285; 17883332; 17886034; 17896171; 17915953; 17919491; 17919492; 17927807; 17953374; 17964723; 17971338; 17991645; 18007994; 18042465; 18045827; 18048809; 18050210; 18077487; 18093274; 18174022; 18195184; 18200441; 18201862; 18202225; 18205746; 18216050; 18234118; 18261117; 18272347; 18274635; 18275848; 18289072; 18307065; 18312299; 18332044; 18344023; 18381758; 18390757; 18404535; 18443197; 18459998; 18460015; 18461097; 18483307; 18502573; 18508827; 18515325; 18524839; 18544348; 18550526; 18560362; 18566988; 18576916; 18582925; 18586007; 18587252; 18596041; 18597895; 18620357; 18640487; 18651163; 18665050; 18689604; 18692581; 18757839; 18769149; 18774956; 18786476; 18787101; 18799519; 18804049; 18811919; 18841019; 18845641; 18923065; 18930811; 18957281; 18975324; 18977241; 18981090; 18983509; 19056482; 19120903; 19122175; 19129475; 19133325; 19165391; 19194559; 19236506; 19238116; 19243019; 19243105; 19246912; 19250338; 19255063; 19255829; 19282863; 19289500; 19303319; 19322201; 19325051; 19336475; 19360326; 19371606; 19389234; 19399816; 19422386; 19428335; 19445907; 19457084; 19457866; 19475336; 19484149; 19487598; 19508729; 19522732; 19526221; 19526463; 19536150; 19548360; 19556236; 19578796; 19586801; 19587144; 19590927; 19604147; 19625608; 19669099; 19676145; 19696228; 19777608; 19785642; 19797297; 19808663; 19808972; 19822148; 19850937; 19853072; 19874887; 19879747; 19884647; 19886851; 19895178; 19903700; 19903769; 19910578; 19913121; 19924377; 19925812; 19965783; 20013271; 20020468; 20021945; 20039940; 20049130; 20064636; 20110814; 20121710; 20127796; 20155807; 20170613; 20175935; 20188821; 20190330; 20193368; 20194081; 20223113; 20229611; 20232486; 20299368; 20345481; 20345975; 20346360; 20351094; 20386498; 20395442; 20404253; 20416077; 20430037; 20446774; 20482362; 20485444; 20504881; 20508205; 20509889; 20518850; 20526373; 20580464; 20585394; 20587610; 20597111; 20599261; 20628086; 20633528; 20667089; 20682519; 20689807; 20705711; 20706680; 20708634; 20733275; 20796278; 20811623; 20832528; 20838751; 20846452; 20868356; 20869265; 20934533; 20938987; 21037234; 21044950; 21079975; 21080099; 21081499; 21091076; 21102410; 21113640; 21136273; 21144518; 21148661; 21157922; 21172416; 21174817; 21191307; 21198350; 21206978; 21211285; 21216973; 21233593; 21236443; 21275653; 21296438; 21307400; 21321939; 21354100; 21366594; 21389316; 21412259; 21425334; 21426408; 21454555; 21495030; 21497776; 21502755; 21506927; 21518986; 21525764; 21531452; 21545264; 21552291; 21555518; 21556890; 21576421; 21598088; 21620964; 21646819; 21647550; 21725851; 21729576; 21737788; 21741353; 21742584; 21756955; 21765894; 21781496; 21808062; 21827279; 21833623; 21861350; 21868703; 21889036; 21898994; 21902835; 21906983; 21911884; 21911919; 21945498; 21963094; 21982894; 21987660; 21988832; 21992109; 22048453; 22078849; 22088544; 22095074; 22123460; 22137262; 22138245; 22142473; 22147556; 22155307; 22158875; 22200625; 22203790; 22212955; 22264017; 22271370; 22276118; 22290142; 22302482; 22323644; 22330859; 22338608; 22418244; 22427825; 22438807; 22461696; 22490514; 22503972; 22541814; 22542718; 22545110; 22549002; 22559824; 22573121; 22578468; 22578957; 22579918; 22580187; 22583702; 22587389; 22594519; 22613607; 22630328; 22666428; 22670665; 22682876; 22689053; 22698995; 22750196; 22776971; 22842631; 22843690; 22849380; 22875919; 22879597; 22881289; 22901690; 22939811; 22945906; 22959128; 22966170; 22989377; 23010497; 23046979; 23051580; 23052192; 23055342; 23074199; 23087099; 23090292; 23092328; 23103292; 23114386; 23123430; 23139759; 23150184; 23158494; 23221079; 23226098; 23238643; 23251661; 23255485; 23288142; 23293173; 23324179; 23345623; 23403148; 23403272; 23406266; 23406650; 23412940; 23423194; 23430116; 23437133; 23454680; 23521418; 23526997; 23536693; 23569422; 23571756; 23580430; 23583371; 23602216; 23606537; 23615401; 23617628; 23660665; 23665328; 23671274; 23714423; 23720344; 23725037; 23737527; 23792437; 23840483; 24038461; 24053646; 24109237; 24211270; 24239896 heme oxygenase (decycling) 1 Ensembl:ENSG00000100292 HGNC:5013 HPRD:00782 MIM:141250 Vega:OTTHUMG00000150960 Other designations: heat shock protein, 32-kD|heme oxygenase 1 HMOX1 Bin Zhao, Yue Liu, Oliver He GFRP1 HMR N10 NAK-1 NGFIB NP10 NUR77 TR3 WEB: http://www.ncbi.nlm.nih.gov/gene NR4A1 nuclear receptor subfamily 4, group A, member 1 3164 12q13 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0001077 (EC: IEA); GO_0001938 (EC: IMP, PMID: 18059339); GO_0002042 (EC: IDA, PMID: 18059339); GO_0003677 (EC: ISS); GO_0003707 (EC: IEA); GO_0004879 (EC: IEA); GO_0005515 (EC: IPI, PMID: 17139261); GO_0005634 (EC: ISS); GO_0005654 (EC: TAS); GO_0005667 (EC: IEA); GO_0005737 (EC: IEA); GO_0006367 (EC: TAS); GO_0007165 (EC: TAS, PMID: 2626032); GO_0007173 (EC: TAS); GO_0008270 (EC: IEA); GO_0008543 (EC: TAS); GO_0010467 (EC: TAS); GO_0030522 (EC: TAS, PMID: 2626032); GO_0035767 (EC: IMP, PMID: 18059339); GO_0035914 (EC: IEA); GO_0035924 (EC: IMP, PMID: 18059339); GO_0038095 (EC: TAS); GO_0042803 (EC: IEA); GO_0043065 (EC: IEA); GO_0043154 (EC: IEA); GO_0043565 (EC: IEA); GO_0044344 (EC: IMP, PMID: 18059339); GO_0045087 (EC: TAS); GO_0046982 (EC: IEA); GO_0048011 (EC: TAS); GO_0048015 (EC: TAS) PMID: 1651101; 2283997; 2555161; 2626032; 7890657; 8227042; 10777386; 10947977; 11274386; 11559707; 11700033; 11883936; 11983153; 12032831; 12046067; 12082103; 12153396; 12376465; 12477932; 12506026; 12842839; 12947120; 14500374; 14525795; 14592536; 14612408; 14678255; 14702039; 14729605; 14751250; 14769794; 14980220; 15033715; 15159280; 15208301; 15292355; 15385570; 15459248; 15466594; 15486232; 15489334; 15494375; 15498889; 15509776; 15591535; 15625237; 15871945; 15964844; 16002533; 16082387; 16169070; 16223362; 16264271; 16434970; 16467267; 16480977; 16595694; 16713569; 16723716; 16847753; 16873729; 16904076; 17023523; 17139261; 17297306; 17434920; 17515897; 17543277; 17543302; 17709892; 17761950; 18059339; 18073527; 18079734; 18202854; 18248459; 18292087; 18305400; 18305892; 18654987; 18713840; 18835031; 18985028; 19148494; 19213954; 19321449; 19675165; 19751824; 19789410; 20010315; 20023005; 20059973; 20083153; 20195357; 20217038; 20411565; 20438716; 20525362; 20558821; 20642837; 20659174; 20668010; 20677014; 20809206; 20847229; 21146499; 21480782; 21621845; 21659476; 21693764; 21726557; 21752397; 21900206; 21906983; 21963094; 21986938; 21988832; 22049082; 22081070; 22143616; 22159226; 22301783; 22427340; 22470048; 22551568; 22628435; 22761936; 22789442; 22983157; 23043761; 23071566; 23088713; 23247046; 23315169; 23416839; 23660295; 23720056; 23831020; 24005216; 24060638; 24299210 nuclear receptor subfamily 4, group A, member 1 Ensembl:ENSG00000123358 HGNC:7980 HPRD:00744 MIM:139139 Vega:OTTHUMG00000150393 Other designations: ST-59|TR3 orphan receptor|early response protein NAK1|growth factor-inducible nuclear protein N10|hormone receptor|nerve growth factor IB nuclear receptor variant 1|nuclear hormone receptor NUR/77|nuclear receptor subfamily 4 group A member 1|orphan nuclear receptor HMR|orphan nuclear receptor TR3|steroid receptor TR3|testicular receptor 3 NR4A1 Bin Zhao, Yue Liu, Oliver He AME AME1 HSD11K HSD2 SDR9C3 WEB: http://www.ncbi.nlm.nih.gov/gene HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 3291 16q22 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0001666 (EC: IEA); GO_0002017 (EC: IEA); GO_0003845 (EC: IEA); GO_0005496 (EC: IEA); GO_0005783 (EC: IEA); GO_0006704 (EC: TAS, PMID: 7859916); GO_0007565 (EC: IEA); GO_0032094 (EC: IEA); GO_0032868 (EC: IEA); GO_0042493 (EC: IEA); GO_0051287 (EC: IEA); GO_0051384 (EC: IEA) PMID: 2845584; 2889032; 7593417; 7608290; 7656579; 7670488; 7859916; 8530071; 8547170; 8611140; 8611186; 9034789; 9398712; 9661590; 9683587; 9707624; 9851783; 10489390; 10523339; 10948076; 11238516; 11350956; 11711524; 11755176; 11787058; 11850421; 11916625; 11956655; 12015312; 12082639; 12109593; 12161498; 12364476; 12417987; 12477932; 12519895; 12574226; 12642869; 12788832; 12788846; 12860834; 12878208; 12911547; 14629298; 14681848; 14981055; 15167446; 15172126; 15305225; 15466942; 15489334; 15489962; 15591138; 15643119; 15643127; 15673310; 16061836; 16109323; 16144812; 16271275; 16272800; 16406280; 16778331; 16804865; 16872738; 16979406; 17028049; 17515840; 17519316; 17551100; 18032417; 18061258; 18178212; 18378698; 18388900; 18408592; 18421276; 18456686; 18573267; 18716005; 18837962; 19022342; 19027726; 19048413; 19150652; 19218882; 19292059; 19336370; 19535674; 19542242; 19811365; 19880179; 19909806; 20214802; 20486282; 20571110; 20597806; 20624455; 20800085; 21237268; 21767875; 21794917; 21825133; 21880714; 22001010; 22239940; 22359645; 22432047; 22632162; 22719058; 22796344; 22872687; 22959142; 22971074; 23303402; 23329753; 23333641; 23357976; 23362866; 23443726; 23446772; 23659736; 23714681; 24169559 hydroxysteroid (11-beta) dehydrogenase 2 Ensembl:ENSG00000176387 HGNC:5209 HPRD:01958 MIM:614232 Vega:OTTHUMG00000137507 Other designations: -HSD11 type II|11-DH2|11-beta-HSD2|11-beta-hydroxysteroid dehydrogenase type 2|11-beta-hydroxysteroid dehydrogenase type II|NAD-dependent 11-beta-hydroxysteroid dehydrogenase|corticosteroid 11-beta-dehydrogenase isozyme 2|short chain dehydrogenase/reductase family 9C member 3 HSD11B2 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene HSPA6 heat shock 70kDa protein 6 (HSP70B') 3310 1q23 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005524 (EC: IEA); GO_0006986 (EC: TAS, PMID: 2327978); GO_0008180 (EC: IDA, Qualifier: colocalizes_with, PMID: 18850735); GO_0070062 (EC: IDA, PMID: 19199708); GO_0072562 (EC: IDA) PMID: 1346391; 2327978; 3184191; 7545947; 7906708; 8125298; 10413683; 10617616; 10964507; 11932435; 12477932; 12832005; 14702039; 15489334; 16196087; 16335966; 16497536; 17110338; 17601350; 17620599; 17623298; 17643375; 18229458; 18347947; 18372927; 18579131; 18685789; 18781797; 18818748; 18850735; 18977241; 19019335; 19074885; 19199708; 19275587; 19287380; 19380743; 19423540; 19527514; 19773279; 19815544; 19875381; 20084477; 20140262; 20348092; 20391533; 20406964; 20438785; 20972266; 21044950; 21139048; 21145461; 21297633; 21565611; 21738476; 21763498; 21853274; 21890473; 21906983; 21963094; 21987572; 21988832; 22053931; 22178446; 22190034; 22505724; 22863883; 22939629; 23000965; 23128233; 23246001; 23438482; 23652523; 23703321; 24039173 heat shock 70kDa protein 6 (HSP70B') Other designations: heat shock 70 kDa protein 6|heat shock 70 kDa protein B'|heat shock 70kD protein 6 (HSP70B') HSPA6 Bin Zhao, Yue Liu, Oliver He HSPF1 Hdj1 Hsp40 RSPH16B Sis1 WEB: http://www.ncbi.nlm.nih.gov/gene DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1 3337 19p13.2 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 17024176); GO_0005730 (EC: IEA); GO_0005737 (EC: IEA); GO_0006986 (EC: TAS, PMID: 8975727); GO_0051082 (EC: IEA); GO_0051085 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867); GO_0070389 (EC: IDA, PMID: 18620420) PMID: 1586970; 1754405; 8250930; 8670798; 8764402; 8975727; 9499401; 9545528; 9727490; 9920933; 10075921; 10330192; 10593983; 10811660; 10816573; 11093761; 11147971; 11457725; 11500375; 11809754; 11821413; 12150907; 12417652; 12477932; 14499622; 14503850; 14702039; 14743183; 14752510; 15075330; 15194794; 15362566; 15489334; 16009940; 16179353; 16196087; 16842747; 16919237; 17012257; 17024176; 17601350; 18032501; 18187620; 18211704; 18457437; 18620420; 18624398; 18977241; 19056867; 19254810; 19615732; 19738201; 19779646; 19901540; 20026329; 20084477; 20360068; 20516149; 20562859; 20735358; 20801936; 20809635; 20811636; 20885985; 21044950; 21124777; 21139048; 21139202; 21145461; 21163940; 21249176; 21480956; 21639839; 21698289; 21763498; 21832049; 21890473; 21906983; 21987572; 22022600; 22075554; 22505724; 22779921; 22863883; 22990118; 23000965; 23395854; 23400395; 23482560; 24091676; 24196953; 24255178; 24318877; 24361594 DnaJ (Hsp40) homolog, subfamily B, member 1 Ensembl:ENSG00000132002 HGNC:5270 HPRD:05198 MIM:604572 Vega:OTTHUMG00000183289 Other designations: DnaJ (Hsp40) homolog, subfmaily B, member 1|dnaJ homolog subfamily B member 1|dnaJ protein homolog 1|hDj-1|heat shock 40 kDa protein 1|heat shock 40kD protein 1|heat shock protein 40|human DnaJ protein 1|radial spoke 16 homolog B DNAJB1 Bin Zhao, Yue Liu, Oliver He 150-225 DFNA56 GMEM GP HXB JI TN TN-C WEB: http://www.ncbi.nlm.nih.gov/gene TNC tenascin C 3371 9q33 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0005576 (EC: TAS); GO_0005604 (EC: IEA); GO_0005614 (EC: IEA); GO_0005615 (EC: IDA); GO_0007155 (EC: IEA); GO_0007162 (EC: IEA); GO_0007528 (EC: IEA); GO_0008284 (EC: IEA); GO_0009611 (EC: IEP, PMID: 16891397); GO_0009612 (EC: IEA); GO_0010628 (EC: IEA); GO_0014012 (EC: IEA); GO_0030198 (EC: TAS); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0031012 (EC: ISS, Qualifier: colocalizes_with); GO_0042060 (EC: IEA); GO_0042475 (EC: IEA); GO_0045471 (EC: IEA); GO_0045545 (EC: IPI, PMID: 8769660); GO_0060447 (EC: IEA); GO_0060739 (EC: IEA); GO_0060740 (EC: IEA); GO_0071300 (EC: IEA); GO_0071305 (EC: IEA); GO_0071774 (EC: IEA); GO_0071799 (EC: IEA) PMID: 1279805; 1385416; 1704365; 1707164; 1719530; 2466295; 7499434; 7523411; 7524681; 7531707; 7541634; 7559467; 7680113; 7693733; 7694284; 8548761; 8769660; 8798654; 8824254; 9314546; 9341124; 9565552; 10103110; 10953015; 11313993; 11470832; 11668187; 11714809; 11850444; 11920587; 11948127; 12168675; 12182416; 12209613; 12351514; 12388760; 12477932; 12557222; 12759243; 14618612; 14981900; 15001984; 15024713; 15059978; 15073129; 15178565; 15239346; 15342556; 15455729; 15469480; 15511229; 15530854; 15558324; 15816617; 15844597; 15892123; 15983124; 16091738; 16100012; 16115819; 16144346; 16157221; 16245312; 16259977; 16292494; 16335952; 16388320; 16461331; 16493581; 16782755; 16891397; 16926030; 16996565; 17013087; 17083689; 17181107; 17188181; 17188391; 17202312; 17311283; 17584833; 17616673; 17681310; 17901052; 17983425; 18029348; 18061975; 18062933; 18173448; 18177748; 18305139; 18353721; 18502153; 18504437; 18695899; 18751374; 18757408; 18794852; 18815154; 19070467; 19147558; 19287959; 19326143; 19405959; 19459858; 19484261; 19561617; 19581738; 19589197; 19688689; 19721293; 19748582; 19887451; 19944367; 20042668; 20083228; 20107185; 20232238; 20346360; 20379614; 20453000; 20583170; 20613589; 20622113; 20651280; 20653781; 20678196; 20708078; 20727496; 20729912; 21039988; 21091771; 21183183; 21281808; 21298289; 21350305; 21403679; 21496259; 21501293; 21512282; 21559807; 21762512; 21763295; 21839747; 21862932; 21885141; 21951663; 21997179; 22039306; 22110694; 22118674; 22219177; 22495383; 22511780; 22699754; 22760918; 22851489; 22951722; 23064399; 23128233; 23192621; 23269478; 23280617; 23454256; 23485472; 23637968; 23645740; 23656926; 23708783; 23882691; 23936043; 24145401 tenascin C Ensembl:ENSG00000041982 HGNC:5318 HPRD:01756 MIM:187380 Vega:OTTHUMG00000021010 Other designations: GP 150-225|cytotactin|deafness, autosomal dominant 56|glioma-associated-extracellular matrix antigen|hexabrachion (tenascin)|myotendinous antigen|neuronectin|tenascin|tenascin-C additional domain 1|tenascin-C isoform 14/AD1/16 TNC Bin Zhao, Yue Liu, Oliver He BB2 CD54 P3.58 WEB: http://www.ncbi.nlm.nih.gov/gene ICAM1 intercellular adhesion molecule 1 3383 19p13.3-p13.2 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0001541 (EC: IEA); GO_0001618 (EC: IEA); GO_0001772 (EC: IEA); GO_0001910 (EC: TAS, PMID: 16038038); GO_0001975 (EC: IEA); GO_0002291 (EC: IMP, PMID: 2477710); GO_0002457 (EC: IEA); GO_0002693 (EC: IMP, PMID: 12902516); GO_0004872 (EC: TAS, PMID: 2538243); GO_0004888 (EC: TAS, PMID: 2538243); GO_0005178 (EC: IPI, PMID: 1448173); GO_0005515 (EC: IPI, PMID: 12716892); GO_0005615 (EC: IDA, PMID: 9290466); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 2538243); GO_0007155 (EC: IDA, PMID: 16809613); GO_0007157 (EC: TAS, PMID: 2477710); GO_0007159 (EC: IMP, PMID: 2477710); GO_0007569 (EC: IEA); GO_0008360 (EC: IEA); GO_0009897 (EC: IEA); GO_0010212 (EC: IEA); GO_0010477 (EC: IEA); GO_0014070 (EC: IEA); GO_0019221 (EC: TAS); GO_0022614 (EC: IEP, PMID: 12082081); GO_0030155 (EC: IEA); GO_0030198 (EC: TAS); GO_0030838 (EC: IEA); GO_0031669 (EC: IEA); GO_0032321 (EC: IEA); GO_0033627 (EC: IEA); GO_0034698 (EC: IEA); GO_0042493 (EC: IEA); GO_0043200 (EC: IEA); GO_0045429 (EC: IEA); GO_0045471 (EC: IEA); GO_0045907 (EC: IEA); GO_0046688 (EC: IEA); GO_0046813 (EC: IDA, PMID: 2538243); GO_0050731 (EC: IEA); GO_0050776 (EC: TAS); GO_0050900 (EC: IEP, PMID: 12082081); GO_0051092 (EC: IEA); GO_0051856 (EC: IDA, PMID: 2538243); GO_0051926 (EC: IEA); GO_0060333 (EC: TAS); GO_0061028 (EC: IGI); GO_0070062 (EC: IDA, PMID: 19056867); GO_0071222 (EC: IEA); GO_0071312 (EC: IEA); GO_0071333 (EC: IEA); GO_0071347 (EC: IEA); GO_0071356 (EC: IEA); GO_0071456 (EC: IEA) PMID: 1361527; 1374132; 1448173; 1625472; 1677359; 1680025; 1680698; 1680919; 1683616; 1683685; 1705751; 1712819; 1722744; 1976256; 1983003; 2453850; 2477710; 2538243; 2544880; 2566624; 3257922; 3340213; 3349522; 3871395; 7525451; 7642561; 7794538; 7822297; 7904170; 7913356; 7917519; 8086129; 8095960; 8432525; 8450224; 8557254; 8558011; 8568270; 8821031; 9259284; 9269771; 9290466; 9488691; 9539702; 9539703; 9705328; 9792375; 9865497; 10198043; 10352278; 10391210; 10477700; 10493852; 10562537; 10602408; 10699175; 10985244; 11072593; 11073102; 11250042; 11279101; 11354638; 11361181; 11409120; 11441079; 11469468; 11508575; 11517385; 11716965; 11726228; 11751911; 11776680; 11786177; 11817671; 11831440; 11831864; 11837795; 11838958; 11847011; 11857637; 11877286; 11881155; 11882338; 11893710; 11896203; 11911111; 11914659; 11922836; 11922919; 11929876; 11935152; 11936473; 11953106; 11956618; 11963839; 11983194; 11983205; 12011765; 12020443; 12027924; 12039084; 12082081; 12082592; 12086338; 12095649; 12097408; 12097820; 12117984; 12127369; 12147222; 12172318; 12172576; 12175089; 12181421; 12192299; 12207164; 12208882; 12220988; 12368450; 12370391; 12391099; 12393699; 12402194; 12477764; 12477932; 12480084; 12496412; 12498973; 12506144; 12509902; 12524171; 12526797; 12529420; 12530121; 12533701; 12590979; 12595908; 12600815; 12624779; 12637697; 12645577; 12660163; 12660796; 12673844; 12714373; 12714566; 12715098; 12716892; 12745437; 12768436; 12775419; 12783117; 12783123; 12788528; 12798307; 12808331; 12829919; 12853962; 12871600; 12902516; 12915579; 12918698; 12939654; 12940514; 12946329; 12954625; 12958678; 14504278; 14533030; 14534081; 14550782; 14551606; 14557478; 14572449; 14572618; 14581566; 14605444; 14609725; 14634129; 14643123; 14691297; 14695458; 14714557; 14722298; 14734737; 14737745; 14741380; 14742996; 14763917; 14763979; 14975197; 14984317; 14993495; 15009098; 15013836; 15048650; 15057477; 15059493; 15080580; 15081401; 15094060; 15123348; 15140794; 15169768; 15183063; 15208262; 15210758; 15212674; 15221034; 15246972; 15272865; 15279951; 15290909; 15294853; 15304054; 15308783; 15313174; 15331359; 15331736; 15334673; 15334773; 15342556; 15353596; 15361125; 15379751; 15387368; 15389590; 15448102; 15479832; 15489334; 15545280; 15548573; 15550998; 15560890; 15572059; 15583842; 15593054; 15607204; 15611342; 15650392; 15654951; 15665526; 15666579; 15682683; 15696921; 15713910; 15724813; 15736117; 15756053; 15760456; 15774488; 15800027; 15817812; 15829968; 15831709; 15853902; 15854776; 15864742; 15866119; 15883744; 15886114; 15896355; 15914533; 15917409; 15919214; 15948767; 15952122; 15958080; 15958383; 16002039; 16004874; 16021473; 16023325; 16038038; 16041273; 16043164; 16097065; 16100282; 16122754; 16152588; 16158332; 16177300; 16177322; 16184405; 16248457; 16266408; 16270299; 16272310; 16288711; 16299052; 16313300; 16317091; 16320110; 16332693; 16335952; 16358956; 16426244; 16428725; 16429128; 16432463; 16434609; 16471223; 16482425; 16492228; 16497620; 16506060; 16507929; 16512757; 16570073; 16604055; 16604496; 16604499; 16611655; 16622032; 16625213; 16680245; 16705652; 16733712; 16741608; 16750586; 16759306; 16773720; 16799092; 16809613; 16820586; 16824729; 16844085; 16857989; 16914605; 16916657; 16916660; 16920492; 16920698; 16930678; 16931899; 16937502; 16938116; 16951376; 16963052; 16970684; 16978373; 17008592; 17012252; 17012367; 17051589; 17056576; 17062505; 17082600; 17083721; 17089918; 17090406; 17112530; 17115895; 17116732; 17126824; 17136392; 17142773; 17174307; 17184150; 17190650; 17192354; 17195014; 17237399; 17237434; 17255534; 17278022; 17292586; 17309130; 17311092; 17328035; 17334226; 17337890; 17340048; 17361014; 17389327; 17390085; 17397790; 17429072; 17476188; 17497038; 17517105; 17521325; 17531998; 17551301; 17560459; 17564956; 17583675; 17591777; 17591781; 17593226; 17598660; 17607549; 17609265; 17640650; 17657162; 17677000; 17703412; 17704297; 17706337; 17706953; 17708604; 17710630; 17785844; 17786132; 17803991; 17868277; 17873320; 17875742; 17885215; 17891599; 17908278; 17913807; 17942534; 17943642; 17954174; 17956423; 17962597; 17962718; 17963163; 17969524; 17974148; 17977219; 17982228; 17990298; 18028430; 18029348; 18045607; 18057581; 18160848; 18164036; 18186794; 18197885; 18199704; 18200516; 18212564; 18227124; 18230913; 18231758; 18233990; 18243419; 18256065; 18260262; 18284603; 18295170; 18297282; 18322230; 18361930; 18362147; 18363879; 18392953; 18401716; 18403635; 18415799; 18420209; 18422166; 18440309; 18446055; 18454303; 18473826; 18474291; 18486623; 18504269; 18505543; 18508964; 18513389; 18523306; 18528404; 18539414; 18574676; 18597403; 18604267; 18613029; 18626404; 18627514; 18632854; 18633131; 18636124; 18647548; 18656701; 18667484; 18676680; 18683786; 18692491; 18703101; 18703796; 18707907; 18710612; 18751468; 18761738; 18768924; 18787016; 18791689; 18791855; 18801041; 18809679; 18820595; 18828734; 18834676; 18842965; 18848929; 18851856; 18928584; 18930765; 18942221; 18945465; 18974840; 18974842; 18979153; 18996288; 19021457; 19022587; 19028820; 19030842; 19048183; 19050286; 19055786; 19056867; 19064572; 19069650; 19074768; 19074885; 19078988; 19088500; 19092999; 19102398; 19114730; 19129609; 19131662; 19136145; 19136619; 19141396; 19154405; 19169973; 19170196; 19175829; 19203796; 19211748; 19212205; 19217936; 19219419; 19225544; 19225705; 19237221; 19249917; 19253530; 19258923; 19262138; 19263529; 19278584; 19306055; 19330816; 19332210; 19338980; 19340565; 19343356; 19351910; 19353432; 19357230; 19373518; 19399399; 19407977; 19407978; 19419934; 19420105; 19423540; 19429776; 19434537; 19449444; 19452711; 19479237; 19483084; 19494354; 19497039; 19500134; 19501575; 19520829; 19524015; 19524923; 19526283; 19540498; 19548631; 19554506; 19559392; 19564823; 19567179; 19573080; 19578796; 19587009; 19587357; 19597294; 19615354; 19625176; 19661147; 19691982; 19692168; 19701669; 19701972; 19710135; 19714575; 19717975; 19724852; 19729601; 19747913; 19764564; 19773279; 19822019; 19825506; 19882756; 19896127; 19898481; 19906207; 19912576; 19913121; 19914206; 19917355; 19922364; 19935876; 19948975; 19949084; 19954409; 20004360; 20056088; 20056178; 20056442; 20083573; 20107176; 20110463; 20118004; 20137698; 20139322; 20151764; 20158572; 20160446; 20164172; 20167578; 20184510; 20187292; 20191078; 20193033; 20217214; 20219985; 20237496; 20304924; 20331378; 20360068; 20360547; 20362293; 20389059; 20405289; 20406964; 20409464; 20409465; 20416077; 20422421; 20430730; 20432452; 20438785; 20445114; 20459645; 20473930; 20485444; 20494378; 20503287; 20508517; 20510872; 20511548; 20529672; 20536507; 20552237; 20566577; 20568250; 20570633; 20574001; 20585554; 20587315; 20588308; 20596527; 20602615; 20603037; 20628086; 20647315; 20662732; 20665551; 20680966; 20681010; 20685094; 20712868; 20714774; 20725844; 20819778; 20837907; 20864106; 20880684; 20890395; 20929696; 20935502; 20940515; 20951945; 21037509; 21039424; 21067572; 21078912; 21102463; 21159528; 21162967; 21171946; 21172429; 21173732; 21183689; 21183871; 21236259; 21270398; 21286024; 21287514; 21328467; 21344487; 21390226; 21391218; 21392767; 21474934; 21487066; 21520070; 21533024; 21536333; 21536861; 21540444; 21542832; 21551251; 21571262; 21590495; 21594636; 21610569; 21628959; 21635548; 21641584; 21658317; 21668410; 21680714; 21717173; 21724992; 21725974; 21798038; 21804483; 21808112; 21816944; 21828047; 21840991; 21843619; 21850260; 21860531; 21871109; 21877251; 21890178; 21895545; 21906983; 21963094; 21972703; 21980389; 21987404; 21988832; 22001052; 22010135; 22015609; 22023772; 22045868; 22059356; 22103402; 22119941; 22183741; 22198381; 22203486; 22209338; 22226621; 22226679; 22234743; 22248682; 22294843; 22324942; 22345292; 22349390; 22378734; 22378736; 22396143; 22404936; 22433250; 22448134; 22463128; 22489699; 22496445; 22497223; 22523428; 22523875; 22525368; 22533155; 22541082; 22552687; 22552879; 22558273; 22560286; 22562265; 22588952; 22591361; 22593994; 22609477; 22609871; 22619799; 22644863; 22646485; 22648254; 22685016; 22697794; 22705151; 22706247; 22707713; 22717098; 22742445; 22763042; 22763828; 22780972; 22782142; 22804504; 22815910; 22905988; 22908191; 22909232; 22972240; 22976263; 22990627; 23039186; 23042271; 23053371; 23053969; 23057424; 23089253; 23095194; 23098564; 23111892; 23128233; 23144497; 23162921; 23178493; 23209327; 23227846; 23232649; 23238746; 23264465; 23297413; 23349778; 23356193; 23364881; 23376231; 23376424; 23383040; 23417849; 23438482; 23438786; 23457623; 23463506; 23493781; 23502765; 23554905; 23558934; 23561648; 23576799; 23581432; 23609612; 23616566; 23625043; 23663325; 23671702; 23677452; 23685129; 23690481; 23726130; 23792525; 23844251; 23906304; 23922493; 23935498; 24077340; 24157824; 24273934; 24282904 intercellular adhesion molecule 1 Ensembl:ENSG00000090339 HGNC:5344 HPRD:00996 MIM:147840 Vega:OTTHUMG00000180403 Other designations: ICAM-1|cell surface glycoprotein P3.58|intercellular adhesion molecule 1 (CD54), human rhinovirus receptor|major group rhinovirus receptor ICAM1 Bin Zhao, Yue Liu, Oliver He ID bHLHb24 WEB: http://www.ncbi.nlm.nih.gov/gene ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein 3397 20q11 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0000122 (EC: IEA); GO_0001525 (EC: TAS, PMID: 14522471); GO_0001886 (EC: IEA); GO_0003700 (EC: IEA); GO_0005515 (EC: IPI, PMID: 15694377); GO_0005634 (EC: IDA); GO_0005654 (EC: TAS); GO_0005730 (EC: IDA, Qualifier: NOT); GO_0005794 (EC: IDA); GO_0006351 (EC: IEA); GO_0007179 (EC: TAS, PMID: 14522471); GO_0007507 (EC: IEA); GO_0010621 (EC: TAS, PMID: 14522471); GO_0030509 (EC: IEA); GO_0031648 (EC: IEA); GO_0032963 (EC: IEA); GO_0043066 (EC: IEA); GO_0043392 (EC: IEA); GO_0043408 (EC: IEA); GO_0043433 (EC: IDA, PMID: 15138269); GO_0043534 (EC: TAS, PMID: 14522471); GO_0045668 (EC: IEA); GO_0045765 (EC: IEA); GO_0045892 (EC: IDA, PMID: 15138269); GO_0046677 (EC: IEA); GO_0046983 (EC: IEA); GO_0048514 (EC: TAS, PMID: 14522471); GO_0060425 (EC: IEA); GO_0060426 (EC: IEA) PMID: 7637581; 8086456; 8294468; 8380166; 8586447; 9070860; 9235903; 9242638; 9528857; 9584154; 10022839; 10419887; 11085505; 11234019; 11591653; 11729207; 11756408; 11780052; 11896613; 11940648; 12016143; 12020803; 12145280; 12203366; 12296825; 12477932; 12547711; 12576450; 12718878; 12719589; 12787042; 12823438; 12881706; 12947323; 12949053; 14522471; 14688027; 14690332; 14742319; 14755252; 15026801; 15029197; 15041724; 15064751; 15138269; 15163661; 15322112; 15361847; 15370294; 15489334; 15489884; 15494533; 15575081; 15579766; 15645115; 15694377; 15701714; 15744343; 15877825; 15905202; 16002046; 16007194; 16029118; 16115231; 16123120; 16189525; 16271072; 16287090; 16341674; 16344560; 16469432; 16506209; 16525633; 16552541; 16556596; 16682435; 16894355; 17072841; 17102133; 17145808; 17202424; 17426247; 17537403; 17565736; 17599389; 17855368; 17891176; 17916352; 18000500; 18072288; 18158619; 18202790; 18240291; 18353975; 18372912; 18413773; 18436795; 18542061; 18556654; 18559972; 18583319; 18648363; 18674781; 18752043; 18842581; 18922905; 19002177; 19014499; 19031736; 19079342; 19079362; 19125693; 19201527; 19217708; 19288008; 19330020; 19423615; 19438642; 19453261; 19491902; 19515385; 19551863; 19567783; 19571317; 19643984; 19644139; 19710505; 19766362; 19843640; 19906510; 19926394; 19951400; 20003244; 20010941; 20070914; 20080245; 20186495; 20191379; 20195544; 20211142; 20388787; 20484992; 20515335; 20522807; 20574154; 20697353; 20709421; 20863724; 20881502; 20887552; 21106423; 21106425; 21467165; 21486943; 21506108; 21536374; 21606196; 21630092; 21670698; 21688151; 21701587; 21732357; 21896993; 21906983; 21921026; 21921784; 21933340; 21955753; 21963094; 21988832; 21993163; 22076920; 22139627; 22278018; 22301282; 22354994; 22379092; 22393458; 22480390; 22580608; 22592405; 22698403; 22781717; 22819717; 23060149; 23243024; 23308043; 23311395; 23342268; 23377983; 23455924; 23555842; 23558671; 23645773; 23714001; 23723304; 23771884; 23872946; 24403496 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein Ensembl:ENSG00000125968 HGNC:5360 HPRD:08980 MIM:600349 Vega:OTTHUMG00000032181 Other designations: DNA-binding protein inhibitor ID-1|class B basic helix-loop-helix protein 24|dJ857M17.1.2 (inhibitor of DNA binding 1, dominant negative helix-loop-helix protein)|inhibitor of differentiation 1 ID1 Bin Zhao, Yue Liu, Oliver He FAM14D ISG12 ISG12A P27 WEB: http://www.ncbi.nlm.nih.gov/gene IFI27 interferon, alpha-inducible protein 27 3429 14q32 20140408 9606 14 protein-coding Official from a nomenclature committee GO_0003674 (EC: ND); GO_0005739 (EC: IDA, PMID: 18330707); GO_0005741 (EC: TAS); GO_0006919 (EC: IDA, PMID: 18330707); GO_0016021 (EC: IEA); GO_0019221 (EC: TAS); GO_0060337 (EC: TAS); GO_0097190 (EC: IDA, PMID: 18330707) PMID: 8358738; 8889548; 9837900; 11076863; 11230166; 11256614; 11375929; 11722583; 12477932; 12539042; 12878323; 14702039; 14719078; 14728724; 15014966; 15063762; 15342556; 15489334; 15489336; 16341674; 16381901; 17166282; 18329281; 18330707; 18361427; 18814951; 18953482; 19558503; 19817957; 20237496; 20663873; 21447007; 21503567; 22309998; 22320196; 22427340; 23383510; 23959120 interferon, alpha-inducible protein 27 Ensembl:ENSG00000165949 HGNC:5397 HPRD:02479 MIM:600009 Vega:OTTHUMG00000171303 Other designations: 2310061N23Rik|ISG12(a)|interferon alpha-induced 11.5 kDa protein|interferon alpha-inducible protein 27, mitochondrial|interferon-stimulated gene 12a protein IFI27 Bin Zhao, Yue Liu, Oliver He IGF-I IGF1A IGFI WEB: http://www.ncbi.nlm.nih.gov/gene IGF1 insulin-like growth factor 1 (somatomedin C) 3479 12q23.2 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0001501 (EC: TAS, PMID: 10448861); GO_0001974 (EC: IEA); GO_0002576 (EC: TAS); GO_0005158 (EC: IPI, PMID: 8452530); GO_0005159 (EC: IPI, PMID: 8452530); GO_0005178 (EC: IDA, PMID: 19578119); GO_0005179 (EC: IDA, PMID: 7188854); GO_0005515 (EC: IPI, PMID: 10766744); GO_0005576 (EC: NAS, PMID: 14718574); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 17119061); GO_0005886 (EC: TAS); GO_0006260 (EC: TAS, PMID: 10766744); GO_0006928 (EC: TAS, PMID: 10766744); GO_0007165 (EC: TAS, PMID: 10448861); GO_0007265 (EC: TAS, PMID: 10848592); GO_0007517 (EC: TAS, PMID: 10448861); GO_0007596 (EC: TAS); GO_0008083 (EC: IEA); GO_0008284 (EC: IDA, PMID: 12746903); GO_0008285 (EC: IEA); GO_0009441 (EC: TAS, PMID: 10448861); GO_0010001 (EC: IEA); GO_0010613 (EC: IDA, PMID: 19654000); GO_0014068 (EC: IDA, PMID: 7688386); GO_0014834 (EC: IDA, PMID: 17531227); GO_0014896 (EC: IMP, PMID: 10191278); GO_0014904 (EC: IDA, PMID: 17531227); GO_0014911 (EC: IDA, PMID: 10766744); GO_0016942 (EC: IC, PMID: 10766744); GO_0021940 (EC: IEA); GO_0030104 (EC: IEA); GO_0030166 (EC: IDA, PMID: 12746903); GO_0030168 (EC: TAS); GO_0030879 (EC: IEA); GO_0031017 (EC: IEA); GO_0031093 (EC: TAS); GO_0032878 (EC: IEA); GO_0033160 (EC: IDA, PMID: 19654000); GO_0034392 (EC: IDA, PMID: 16942485); GO_0035264 (EC: IEA); GO_0035630 (EC: IDA, PMID: 16433617); GO_0040014 (EC: IEP, PMID: 8421089); GO_0042104 (EC: IDA, PMID: 15694994); GO_0042523 (EC: IDA, PMID: 9722506); GO_0043388 (EC: IDA, PMID: 19654000); GO_0043410 (EC: IDA, PMID: 19654000); GO_0043568 (EC: IDA, PMID: 10766744); GO_0044267 (EC: TAS); GO_0045445 (EC: IDA, PMID: 17531227); GO_0045669 (EC: IDA, PMID: 16433617); GO_0045725 (EC: IDA); GO_0045740 (EC: IDA, PMID: 7688386); GO_0045740 (EC: ISS); GO_0045821 (EC: IDA, PMID: 7688386); GO_0045840 (EC: IDA, PMID: 10644978); GO_0045893 (EC: IDA, PMID: 19654000); GO_0045944 (EC: IDA, PMID: 16433617); GO_0046326 (EC: IDA); GO_0046579 (EC: IDA, PMID: 9722506); GO_0048009 (EC: IEA); GO_0048015 (EC: IDA, PMID: 7692086); GO_0048146 (EC: IDA, PMID: 7188854); GO_0048286 (EC: IEA); GO_0048661 (EC: IDA, PMID: 10766744); GO_0048754 (EC: IEA); GO_0048839 (EC: IEA); GO_0050650 (EC: IEA); GO_0050679 (EC: IDA, PMID: 7188854); GO_0050731 (EC: IDA, PMID: 7782332); GO_0051450 (EC: IDA, PMID: 17531227); GO_0051897 (EC: IEA); GO_0060426 (EC: IEA); GO_0060463 (EC: IEA); GO_0060509 (EC: IEA); GO_0060510 (EC: IEA); GO_0060527 (EC: IEA); GO_0060736 (EC: IEA); GO_0060741 (EC: IEA); GO_0060766 (EC: IEA); GO_0070373 (EC: IEA); GO_0070886 (EC: IDA, PMID: 19654000); GO_0090201 (EC: ISS); GO_0097192 (EC: IEA); GO_2000288 (EC: IEA); GO_2001237 (EC: IDA, PMID: 16942485) PMID: 632300; 1147105; 1319992; 1370435; 1372070; 1383255; 1733942; 1791841; 1852007; 2018498; 2036417; 2082190; 2752154; 2935423; 2937782; 2982726; 3002851; 3242681; 3455760; 3683205; 4550398; 6189745; 6358902; 6382022; 7188854; 7511544; 7683646; 7688386; 7692086; 7720641; 7782332; 7916968; 8421089; 8452530; 8495408; 8857020; 8939990; 9138096; 9446566; 9453236; 9497324; 9681507; 9722506; 9722589; 9831081; 9853872; 9857239; 10084601; 10191278; 10205209; 10226805; 10350456; 10381171; 10391209; 10407151; 10448861; 10459853; 10512690; 10644978; 10749889; 10766744; 10823924; 10848592; 11063745; 11161840; 11175789; 11246885; 11319179; 11344214; 11600567; 11735247; 11749962; 11762714; 11768601; 11787050; 11822578; 11825899; 11834727; 11857446; 11858767; 11867942; 11877395; 11877670; 11896491; 11897674; 11903419; 11904589; 11907830; 11909998; 11914023; 11914026; 11924928; 11937187; 11943599; 11953210; 11964397; 11972897; 11988840; 11994280; 11994678; 12005306; 12006706; 12011046; 12011225; 12032677; 12050240; 12062094; 12070137; 12086966; 12095637; 12102164; 12111701; 12115549; 12122101; 12127559; 12135130; 12135360; 12164325; 12175483; 12186542; 12201212; 12213898; 12217887; 12218293; 12236578; 12237896; 12240900; 12356750; 12364325; 12381752; 12388463; 12389335; 12394769; 12397390; 12419777; 12424437; 12477932; 12508915; 12508916; 12508917; 12508918; 12508929; 12508940; 12509920; 12511011; 12519841; 12545204; 12555073; 12562960; 12571183; 12590635; 12590636; 12592062; 12610514; 12612059; 12631341; 12642873; 12679458; 12714114; 12716804; 12716855; 12716875; 12727948; 12729801; 12730416; 12732844; 12734180; 12735930; 12746292; 12746903; 12759337; 12787886; 12791939; 12800944; 12810534; 12842994; 12843178; 12843179; 12843187; 12858577; 12861174; 12865482; 12867429; 12870155; 12891709; 12909598; 12915683; 12919702; 12930919; 12937269; 12937290; 12943991; 12948293; 12949013; 12960100; 12970325; 13130502; 14504195; 14521955; 14557458; 14602779; 14604834; 14605256; 14631161; 14633859; 14647921; 14657423; 14668202; 14673951; 14674122; 14681231; 14684598; 14684690; 14690534; 14691011; 14691340; 14693733; 14697248; 14710345; 14710346; 14710359; 14714750; 14715837; 14718574; 14744783; 14749262; 14757186; 14761840; 14764950; 14961074; 14973173; 15033176; 15033949; 15044591; 15047131; 15049048; 15067513; 15072640; 15082485; 15086466; 15087580; 15090033; 15098919; 15105834; 15134305; 15135045; 15140223; 15181035; 15187095; 15205474; 15210945; 15211595; 15217931; 15221500; 15221971; 15223841; 15231015; 15240644; 15247132; 15254679; 15256490; 15256976; 15272501; 15272914; 15276114; 15292338; 15302288; 15302582; 15302607; 15304489; 15331555; 15345670; 15350139; 15358562; 15386404; 15451424; 15477425; 15485651; 15489542; 15505506; 15509657; 15514031; 15517912; 15522943; 15528386; 15537892; 15548698; 15556609; 15576456; 15579776; 15586244; 15611085; 15611844; 15616244; 15616898; 15618451; 15625284; 15641262; 15641264; 15653207; 15657590; 15661050; 15668470; 15668488; 15678496; 15688209; 15692088; 15694994; 15695599; 15726267; 15731363; 15734965; 15735081; 15756256; 15767261; 15780948; 15784711; 15797461; 15809062; 15820831; 15844470; 15845624; 15848608; 15849510; 15862031; 15867218; 15879687; 15888547; 15891958; 15894537; 15894673; 15927083; 15932773; 15941947; 15950665; 15954927; 15956340; 15986122; 16000303; 16008890; 16015705; 16019437; 16030120; 16041536; 16044163; 16051222; 16111879; 16115888; 16133873; 16159864; 16161053; 16189249; 16195423; 16215864; 16244494; 16294334; 16297654; 16306136; 16306230; 16322331; 16330010; 16332723; 16352683; 16352686; 16361587; 16369467; 16394092; 16400188; 16404426; 16412381; 16418515; 16418517; 16433617; 16448675; 16489531; 16498050; 16516166; 16635594; 16645019; 16648498; 16670160; 16716263; 16716629; 16720666; 16724947; 16728464; 16776662; 16778368; 16785149; 16807888; 16820871; 16825188; 16831875; 16840657; 16846747; 16847815; 16868142; 16873705; 16887362; 16888814; 16924115; 16926156; 16935391; 16939403; 16940243; 16942485; 16953217; 16955207; 16962112; 16969385; 16970944; 16981855; 16998819; 17006543; 17010055; 17010800; 17015410; 17033263; 17033713; 17044098; 17045571; 17051426; 17062892; 17063263; 17066319; 17082888; 17090643; 17096324; 17107821; 17108398; 17113753; 17116217; 17119061; 17133354; 17142521; 17148586; 17156777; 17164371; 17164408; 17166846; 17174724; 17179152; 17179726; 17187018; 17211256; 17218729; 17234973; 17236585; 17254778; 17255202; 17264182; 17265493; 17289286; 17289909; 17300730; 17311016; 17317669; 17320297; 17320874; 17330866; 17343577; 17350302; 17363178; 17363459; 17376820; 17377396; 17377412; 17385724; 17387582; 17388800; 17396115; 17396438; 17410466; 17412783; 17418605; 17419944; 17425608; 17447118; 17458902; 17470458; 17484040; 17486636; 17492509; 17497031; 17499312; 17499363; 17509524; 17520698; 17531227; 17545516; 17546465; 17555512; 17556532; 17560154; 17560457; 17560756; 17561390; 17566087; 17569567; 17574386; 17581609; 17597108; 17597610; 17617058; 17622956; 17624368; 17651480; 17652764; 17666408; 17666470; 17666477; 17666480; 17668637; 17689128; 17702838; 17709895; 17721831; 17724372; 17761791; 17785698; 17803702; 17827385; 17827393; 17851271; 17879951; 17888024; 17895313; 17904522; 17911177; 17912004; 17916769; 17920708; 17921143; 17936052; 17953371; 17953960; 17957164; 17975158; 17989724; 17991453; 17997337; 18003755; 18006148; 18006928; 18022169; 18026134; 18031946; 18037753; 18045956; 18050312; 18052685; 18054929; 18059035; 18064566; 18067523; 18079194; 18079201; 18079751; 18082739; 18163429; 18166823; 18174288; 18177247; 18178497; 18188667; 18199422; 18199734; 18215180; 18215216; 18236213; 18237549; 18246120; 18250100; 18259111; 18283040; 18284609; 18299470; 18301972; 18308828; 18311789; 18316619; 18316725; 18317720; 18335323; 18349294; 18365879; 18372285; 18375957; 18377765; 18398029; 18401200; 18403642; 18410545; 18413316; 18420583; 18432248; 18432585; 18437163; 18451573; 18461658; 18464752; 18466350; 18481170; 18482854; 18490653; 18499368; 18502759; 18507054; 18520331; 18534134; 18535190; 18537700; 18538283; 18544576; 18547344; 18552658; 18560445; 18562769; 18567511; 18567578; 18568888; 18577518; 18596909; 18598695; 18603571; 18614962; 18615538; 18616667; 18618736; 18623088; 18631396; 18636124; 18636198; 18648544; 18653547; 18658030; 18662893; 18665784; 18666027; 18675202; 18676680; 18697743; 18703768; 18757322; 18761080; 18762812; 18774952; 18781172; 18785005; 18812263; 18814240; 18818748; 18828733; 18831980; 18852162; 18924579; 18948617; 18975254; 18979395; 18981102; 18991569; 18992148; 18992263; 18996102; 19004037; 19010705; 19012097; 19019335; 19021034; 19027918; 19038795; 19050262; 19064126; 19064563; 19064572; 19067728; 19070892; 19075184; 19077426; 19085695; 19091070; 19094228; 19103645; 19124506; 19124510; 19127217; 19129715; 19136503; 19138871; 19147602; 19160571; 19167357; 19170196; 19190540; 19194113; 19207031; 19207313; 19217707; 19223521; 19228610; 19229608; 19235591; 19238412; 19240240; 19246276; 19246485; 19250636; 19251054; 19254914; 19269948; 19276999; 19293573; 19293581; 19300521; 19304869; 19308628; 19318457; 19323791; 19330922; 19332270; 19336370; 19340002; 19346116; 19346585; 19386527; 19398211; 19406747; 19417076; 19417744; 19423701; 19424673; 19426107; 19434535; 19453261; 19467892; 19470256; 19470380; 19470623; 19472023; 19474142; 19482057; 19488994; 19491931; 19506539; 19526274; 19527514; 19530221; 19531281; 19533653; 19543094; 19551864; 19560785; 19563785; 19567392; 19568604; 19571555; 19572220; 19578119; 19585556; 19598235; 19603014; 19605357; 19618660; 19625176; 19626396; 19634593; 19634821; 19639489; 19654000; 19658040; 19672706; 19680783; 19690970; 19692168; 19709092; 19728079; 19729319; 19751734; 19759555; 19770497; 19773182; 19773405; 19784788; 19786462; 19797396; 19813164; 19833751; 19843326; 19845745; 19846733; 19858071; 19863750; 19887603; 19891769; 19893584; 19895315; 19906888; 19913121; 19917654; 19919531; 19932628; 19938957; 19942582; 19944347; 19948975; 19955757; 19966181; 19966862; 20002733; 20010316; 20010501; 20013271; 20013551; 20016970; 20022575; 20031461; 20039319; 20044479; 20047081; 20048152; 20051649; 20080855; 20081858; 20086250; 20089844; 20098680; 20098959; 20099280; 20100838; 20119675; 20132087; 20142246; 20145156; 20150439; 20155489; 20157552; 20163445; 20176597; 20182617; 20185807; 20189936; 20190159; 20190537; 20190549; 20199671; 20202860; 20206398; 20207740; 20214787; 20215395; 20220546; 20220555; 20230795; 20231902; 20300125; 20302654; 20306690; 20351102; 20355242; 20356932; 20360006; 20363874; 20372799; 20378848; 20379614; 20389101; 20395543; 20403354; 20403997; 20414942; 20416304; 20418654; 20419449; 20423985; 20426845; 20427254; 20435602; 20437058; 20452482; 20453000; 20468064; 20472480; 20473871; 20484221; 20486202; 20487628; 20490824; 20519361; 20534752; 20559971; 20571236; 20571754; 20580999; 20587610; 20602615; 20603485; 20628086; 20633033; 20634197; 20646497; 20668042; 20668872; 20670935; 20671417; 20671418; 20673868; 20685093; 20701471; 20730440; 20731527; 20734064; 20801067; 20810576; 20810604; 20818748; 20818790; 20844834; 20848182; 20857406; 20858702; 20863877; 20872173; 20875825; 20884247; 20889360; 20920870; 20927124; 20935157; 20962507; 20962685; 20963499; 20965827; 21031436; 21039458; 21046444; 21047277; 21056746; 21057699; 21070767; 21076856; 21078522; 21082354; 21094246; 21099256; 21113804; 21114510; 21123448; 21135552; 21161940; 21176999; 21187969; 21192914; 21196777; 21198739; 21212012; 21216879; 21237682; 21245137; 21251749; 21263374; 21266309; 21273576; 21274339; 21287667; 21302346; 21308753; 21310824; 21314261; 21315112; 21316352; 21344385; 21345666; 21354439; 21367536; 21378090; 21388493; 21388950; 21390492; 21392749; 21406062; 21422735; 21435927; 21436142; 21447628; 21450456; 21454954; 21458314; 21459641; 21460230; 21460853; 21471532; 21471542; 21474915; 21478207; 21480260; 21484083; 21502796; 21508132; 21521288; 21521316; 21521322; 21535073; 21535266; 21536469; 21552154; 21554807; 21562710; 21573718; 21585623; 21590732; 21617253; 21634360; 21638027; 21658593; 21658978; 21667186; 21672348; 21689549; 21690232; 21698457; 21700939; 21705978; 21705979; 21707534; 21708381; 21723061; 21753778; 21761353; 21788435; 21799000; 21816784; 21823995; 21832856; 21839662; 21840378; 21846339; 21852217; 21854509; 21865155; 21867981; 21873172; 21882221; 21898383; 21930730; 21932337; 21932422; 21933314; 21941959; 21944866; 21951159; 21958043; 21967317; 21972777; 21976954; 21986483; 22004906; 22026507; 22032863; 22048966; 22059359; 22082268; 22113073; 22119913; 22133783; 22145451; 22146489; 22154520; 22164296; 22170795; 22189999; 22199289; 22217530; 22227802; 22245162; 22245250; 22246875; 22253814; 22253890; 22286784; 22297468; 22305966; 22311343; 22318747; 22322534; 22328165; 22332214; 22347413; 22359227; 22363400; 22364960; 22372631; 22379117; 22389002; 22391565; 22410945; 22419724; 22423511; 22423513; 22430216; 22442270; 22452985; 22475139; 22479346; 22503243; 22503545; 22509095; 22509107; 22513191; 22524398; 22527168; 22529373; 22532606; 22554827; 22554965; 22559791; 22564703; 22565227; 22572840; 22573330; 22581228; 22582495; 22591999; 22626951; 22630333; 22669976; 22673406; 22714057; 22729283; 22733797; 22739332; 22739988; 22746182; 22767591; 22832530; 22839688; 22843623; 22844419; 22847383; 22859931; 22865898; 22875667; 22882716; 22892437; 22894543; 22898392; 22906275; 22922215; 22933025; 22936258; 22941977; 22951368; 22960989; 22968245; 22982059; 22982320; 23047741; 23079385; 23080092; 23089282; 23121326; 23122221; 23138182; 23160066; 23165777; 23180020; 23197045; 23211593; 23226206; 23227848; 23233113; 23266941; 23288662; 23295542; 23322062; 23335048; 23340251; 23341348; 23344457; 23351407; 23364988; 23365126; 23397154; 23400010; 23400497; 23403580; 23406753; 23410103; 23419423; 23423640; 23424195; 23438236; 23457723; 23462604; 23483175; 23497056; 23499762; 23524620; 23526299; 23526983; 23530598; 23546957; 23583271; 23606700; 23611528; 23612968; 23619263; 23619527; 23624134; 23628798; 23658892; 23666343; 23671040; 23671288; 23686362; 23689439; 23696648; 23698746; 23704881; 23708690; 23712705; 23734076; 23748063; 23749893; 23757194; 23757355; 23770741; 23778474; 23789983; 23792502; 23792936; 23800627; 23801064; 23801371; 23815140; 23850449; 23861230; 23864592; 23892354; 23932581; 23967261; 23980150; 23989258; 24022308; 24036101; 24037648; 24184209; 24501799; 24511663 insulin-like growth factor 1 (somatomedin C) Ensembl:ENSG00000017427 HGNC:5464 HPRD:00936 MIM:147440 Vega:OTTHUMG00000149910 Other designations: IGF-IA|IGF-IB|MGF|insulin-like growth factor I|insulin-like growth factor IA|insulin-like growth factor IB|mechano growth factor|somatomedin-C IGF1 Bin Zhao, Yue Liu, Oliver He AGM FSTL2 IBP-7 IGFBP-7 IGFBP-7v IGFBPRP1 MAC25 PSF RAMSVPS TAF WEB: http://www.ncbi.nlm.nih.gov/gene IGFBP7 insulin-like growth factor binding protein 7 3490 4q12 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0001558 (EC: IEA); GO_0005515 (EC: IPI, PMID: 9388210); GO_0005520 (EC: IEA); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA); GO_0007155 (EC: IDA, PMID: 8117260); GO_0007566 (EC: IEA); GO_0008285 (EC: TAS, PMID: 8939990); GO_0009408 (EC: IEA); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0032526 (EC: IEA); GO_0032870 (EC: IEA); GO_0048839 (EC: IEA); GO_0050810 (EC: IEA); GO_0051414 (EC: IEA) PMID: 7538673; 7694637; 7980422; 8117260; 8939990; 9100611; 9313760; 9388210; 10502291; 10595934; 10820148; 10859029; 10985926; 11549700; 12065244; 12407018; 12477932; 12592389; 12679483; 12843194; 12847218; 14521955; 14633696; 15077158; 15340161; 15489334; 15708897; 16302002; 16873698; 17048309; 17136345; 17312390; 17465992; 17972510; 18160415; 18267069; 18711401; 18981723; 19019211; 19374835; 19542015; 19638426; 19710688; 19829302; 19919630; 20029996; 20407444; 20433702; 20440262; 20464481; 20478260; 20535151; 20599521; 20977730; 21040219; 21095038; 21139048; 21328580; 21413833; 21525788; 21562573; 21835307; 21908579; 21909106; 21988832; 22005787; 22173745; 22277373; 22383111; 22392074; 22544761; 22622471; 22750143; 22906661; 22939629; 23250396; 23381221; 23382691; 23543219; 23546957; 23600329; 23713052 insulin-like growth factor binding protein 7 Ensembl:ENSG00000163453 HGNC:5476 HPRD:04183 MIM:602867 Other designations: IGF-binding protein 7|IGFBP-rP1|PGI2-stimulating factor|angiomodulin|insulin-like growth factor-binding protein 7|prostacyclin-stimulating factor|tumor-derived adhesion factor IGFBP7 Bin Zhao, Yue Liu, Oliver He CCN1 GIG1 IGFBP10 WEB: http://www.ncbi.nlm.nih.gov/gene CYR61 cysteine-rich, angiogenic inducer, 61 3491 1p22.3 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001558 (EC: IEA); GO_0001649 (EC: IEA); GO_0001934 (EC: IDA); GO_0002041 (EC: IEA); GO_0003181 (EC: IEA); GO_0003278 (EC: IEA); GO_0003281 (EC: IEA); GO_0005178 (EC: IEA); GO_0005520 (EC: IEA); GO_0005576 (EC: IEA); GO_0006935 (EC: IEA); GO_0008201 (EC: IEA); GO_0008283 (EC: TAS, PMID: 9135077); GO_0009653 (EC: TAS, PMID: 9135077); GO_0010518 (EC: IEA); GO_0010811 (EC: IEA); GO_0030198 (EC: IEA); GO_0030335 (EC: IDA); GO_0030513 (EC: IGI); GO_0033690 (EC: IDA); GO_0043065 (EC: IEA); GO_0043066 (EC: IEA); GO_0043280 (EC: IEA); GO_0044319 (EC: IDA); GO_0045669 (EC: IDA); GO_0045860 (EC: IDA); GO_0045944 (EC: IDA); GO_0050840 (EC: IEA); GO_0060413 (EC: IEA); GO_0060591 (EC: IEA); GO_0060710 (EC: IEA); GO_0060716 (EC: IEA); GO_0061036 (EC: IEA); GO_0070372 (EC: IDA); GO_0072593 (EC: IEA); GO_2000304 (EC: IEA) PMID: 8125298; 8635876; 9135077; 9446626; 9488038; 9528960; 9536281; 9600969; 10446209; 10821835; 10852911; 11120741; 11287419; 11584015; 11600415; 11751417; 11810026; 11840342; 12036876; 12217894; 12364323; 12374462; 12444554; 12477932; 12736251; 12826661; 12831056; 12899698; 12939282; 14702039; 14988385; 15041728; 15044484; 15044605; 15053922; 15077166; 15389821; 15471875; 15489334; 15526358; 15564459; 15592521; 15782120; 15878827; 15961723; 16243794; 16344560; 16581771; 16675545; 16804865; 16877350; 17056474; 17234971; 17314511; 17361185; 17429007; 17437852; 17579708; 17601910; 17626014; 17673559; 17699553; 17718860; 17765657; 18004727; 18025257; 18058471; 18089610; 18202125; 18212329; 18381294; 18575751; 18599605; 18687805; 18800188; 18819928; 18936953; 18941464; 18950845; 19007976; 19147534; 19180570; 19244129; 19288017; 19364818; 19542562; 19584265; 19632997; 19950293; 20010302; 20043874; 20056838; 20097175; 20195466; 20233866; 20237132; 20237496; 20360068; 20531301; 20628624; 20641097; 21081514; 21138874; 21139048; 21153366; 21159247; 21212405; 21232118; 21249313; 21312266; 21349946; 21393426; 21397653; 21447598; 21488975; 21505992; 21601497; 21618249; 21628462; 21711965; 21963094; 21976359; 21995436; 22023263; 22025384; 22056874; 22160564; 22253074; 22363611; 22401280; 22527715; 22532143; 22540002; 22547695; 22551568; 22566095; 22692860; 22694338; 22752926; 22797925; 23027863; 23045290; 23141184; 23196056; 23259998; 23316072; 23504324; 23528710; 23618859; 23623839; 23667531; 23744557; 23798676; 24449575 cysteine-rich, angiogenic inducer, 61 Ensembl:ENSG00000142871 HGNC:2654 HPRD:09089 MIM:602369 Vega:OTTHUMG00000010577 Other designations: CCN family member 1|IBP-10|IGF-binding protein 10|IGFBP-10|cysteine-rich heparin-binding protein 61|cysteine-rich, anigogenic inducer, 61|insulin-like growth factor-binding protein 10|protein CYR61 CYR61 Bin Zhao, Yue Liu, Oliver He IGCJ JCH WEB: http://www.ncbi.nlm.nih.gov/gene IGJ immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 3512 4q21 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0001895 (EC: IEP); GO_0002250 (EC: IDA); GO_0003094 (EC: IMP); GO_0003697 (EC: IDA, Qualifier: contributes_to); GO_0003823 (EC: NAS, PMID: 2984306); GO_0005576 (EC: NAS, PMID: 14718574); GO_0005615 (EC: IDA); GO_0006955 (EC: NAS, PMID: 2984306); GO_0019731 (EC: IDA); GO_0019862 (EC: IMP, PMID: 17237408); GO_0031210 (EC: IDA, Qualifier: contributes_to); GO_0032461 (EC: IMP, PMID: 17237408); GO_0034987 (EC: IDA, Qualifier: contributes_to); GO_0034987 (EC: IMP, Qualifier: contributes_to, PMID: 17237408); GO_0042803 (EC: IDA); GO_0042834 (EC: IDA, Qualifier: contributes_to); GO_0045087 (EC: IDA); GO_0060267 (EC: IDA); GO_0070062 (EC: IDA, PMID: 19199708); GO_0071748 (EC: IDA); GO_0071750 (EC: IMP, PMID: 17237408); GO_0071751 (EC: IDA); GO_0071752 (EC: IDA); GO_0071756 (EC: IDA); GO_0071757 (EC: IDA, Qualifier: NOT); GO_0072562 (EC: IDA) PMID: 115892; 407930; 1292512; 1472500; 2113434; 2120591; 2415140; 2984306; 3016707; 3146624; 6417260; 6774844; 7664491; 8168154; 8196286; 8253928; 8666793; 8683109; 12477932; 14718574; 15084671; 15342556; 16335952; 16740002; 17237408; 19199708; 20237496; 20947433; 21906983 immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides Ensembl:ENSG00000132465 HGNC:5713 HPRD:00991 MIM:147790 Vega:OTTHUMG00000129909 Other designations: IgJ chain|immunoglobulin J chain IGJ Bin Zhao, Yue Liu, Oliver He HCAK1 IGKCD Km WEB: http://www.ncbi.nlm.nih.gov/gene IGKC immunoglobulin kappa constant 3514 2p12 20140408 9606 2 other Official from a nomenclature committee GO_0001895 (EC: IEP); GO_0003823 (EC: NAS, PMID: 6779204); GO_0005576 (EC: NAS, PMID: 6779204); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA); GO_0005886 (EC: TAS); GO_0006955 (EC: NAS, PMID: 6779204); GO_0006956 (EC: TAS); GO_0006958 (EC: TAS); GO_0038095 (EC: TAS); GO_0038096 (EC: TAS); GO_0045087 (EC: TAS); GO_0050776 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19199708); GO_0072562 (EC: IDA) PMID: 814163; 1249422; 1522589; 4893682; 4923144; 5027703; 5447531; 5489770; 5586923; 6091049; 6276389; 6308460; 6402305; 6775818; 6779204; 8223863; 9588180; 10354514; 11183784; 11525169; 11700059; 11955599; 12039524; 12215905; 12477932; 12736802; 15174051; 16083750; 16289162; 16332457; 16682481; 17353931; 18821675; 19199708; 19317746; 19710015; 20706999; 20870723; 21646814; 21701535; 21906983; 21988832; 22351685; 22751105; 23028600; 23303672; 23370224; 23824909; 23862649; 23956138; 24457600 immunoglobulin kappa constant HGNC:5716 IMGT/GENE-DB:IGKC MIM:147200 IGKC Bin Zhao, Yue Liu, Oliver He CD123 IL3R IL3RAY IL3RX IL3RY hIL-3Ra WEB: http://www.ncbi.nlm.nih.gov/gene IL3RA interleukin 3 receptor, alpha (low affinity) 3563 RP11-261P4.2 Xp22.3 or Yp11.3 20140408 9606 X|Y protein-coding Official from a nomenclature committee GO_0004912 (EC: TAS, PMID: 1833064); GO_0005886 (EC: TAS); GO_0016021 (EC: IEA); GO_0036016 (EC: TAS, PMID: 1833064); GO_0038156 (EC: TAS, PMID: 1833064) PMID: 1833064; 7651724; 7796808; 7887951; 7957082; 8100720; 8213838; 8599840; 8649415; 8943237; 8948019; 9278420; 9574547; 10477722; 10515868; 11034417; 11120855; 11207369; 12044522; 12351411; 12384414; 12477932; 12504125; 12604332; 12943658; 14500898; 14671644; 15489334; 15795318; 15988755; 16007196; 17474147; 17522711; 18047539; 18547720; 18555589; 19109256; 19257981; 19281803; 19454491; 19614769; 19730683; 19762535; 20452482; 20673868; 20809502; 20819538; 20888334; 21176354; 21330473; 21917686; 21933861; 21955314; 21988832; 22719258; 22914610; 23080069; 23470050; 23791208; 24030378; 24152218 interleukin 3 receptor, alpha (low affinity) Ensembl:ENSG00000185291 HGNC:6012 HPRD:02392 HPRD:08951 MIM:308385 MIM:430000 Vega:OTTHUMG00000021059 Other designations: CD123 antigen|IL-3 receptor alpha SP2 isoform|IL-3 receptor subunit alpha|IL-3R subunit alpha|IL-3R-alpha|IL-3RA|interleukin-3 receptor subunit alpha IL3RA Bin Zhao, Yue Liu, Oliver He CD125 CDw125 HSIL5R3 IL5R WEB: http://www.ncbi.nlm.nih.gov/gene IL5RA interleukin 5 receptor, alpha 3568 3p26-p24 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0002437 (EC: IEA); GO_0004914 (EC: TAS, PMID: 1495999); GO_0005515 (EC: IPI, PMID: 1495999); GO_0005615 (EC: TAS, PMID: 1495999); GO_0005886 (EC: TAS); GO_0007165 (EC: TAS, PMID: 1732409); GO_0008283 (EC: TAS, PMID: 1732409); GO_0016021 (EC: IEA); GO_0032674 (EC: IEA); GO_0038043 (EC: TAS, PMID: 1495999) PMID: 1427903; 1477296; 1495999; 1505961; 1732409; 1833065; 7721873; 7836416; 7957082; 8228251; 8568239; 9378992; 9516124; 10477722; 10688814; 10880230; 10949031; 11101310; 11498591; 11842302; 11897983; 12082592; 12202242; 12444154; 12444155; 12477932; 12496276; 12752323; 12943658; 16217591; 16344560; 16430207; 16625214; 17227823; 17362254; 17474147; 17620072; 17703412; 17914408; 17983872; 18256354; 18326494; 18511572; 18974840; 19028820; 19074885; 19131662; 19170670; 19247692; 19258923; 19263529; 19479237; 19559392; 19654410; 19729601; 19913121; 20237496; 20452482; 20503287; 20536507; 20603037; 20628086; 20673868; 20735756; 20800603; 20811626; 21193198; 21762978; 21770429; 21986312; 22153509; 22528658; 22542470; 22560479; 23166209; 23190752; 23362303; 23470716 interleukin 5 receptor, alpha Ensembl:ENSG00000091181 HGNC:6017 HPRD:00998 MIM:147851 Vega:OTTHUMG00000090245 Other designations: CD125 antigen|IL-5 receptor subunit alpha|IL-5R subunit alpha|interleukin 5 receptor type 3|interleukin-5 receptor alpha chain|interleukin-5 receptor subunit alpha IL5RA Bin Zhao, Yue Liu, Oliver He BSF2 HGF HSF IFNB2 IL-6 WEB: http://www.ncbi.nlm.nih.gov/gene IL6 interleukin 6 3569 7p21 20140409 9606 7 protein-coding Official from a nomenclature committee GO_0001781 (EC: IDA, PMID: 7595060); GO_0002384 (EC: IDA, PMID: 2444978); GO_0002384 (EC: TAS, PMID: 12832423); GO_0002446 (EC: IC, PMID: 16034137); GO_0002548 (EC: IC, PMID: 10510402); GO_0002675 (EC: IDA, PMID: 2444978); GO_0002690 (EC: IC, PMID: 16034137); GO_0005125 (EC: IDA, PMID: 3023045); GO_0005125 (EC: NAS, PMID: 10443688); GO_0005138 (EC: IPI, PMID: 12829785); GO_0005138 (EC: IPI, Qualifier: contributes_to, PMID: 12829785); GO_0005138 (EC: NAS, PMID: 1883960); GO_0005515 (EC: IPI, PMID: 11238858); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 10443688); GO_0005896 (EC: IDA, PMID: 12829785); GO_0006469 (EC: IEA); GO_0006953 (EC: TAS, PMID: 12832423); GO_0006954 (EC: IDA, PMID: 10443688); GO_0006959 (EC: IC, PMID: 3491322); GO_0007568 (EC: IEA); GO_0008083 (EC: IDA, PMID: 12643274); GO_0008284 (EC: IDA, PMID: 2261637); GO_0008284 (EC: IMP, PMID: 18719127); GO_0008285 (EC: IEA); GO_0008360 (EC: IEA); GO_0009408 (EC: IEA); GO_0009409 (EC: IEA); GO_0009612 (EC: IEA); GO_0009897 (EC: IEA); GO_0010574 (EC: IDA, PMID: 8557680); GO_0010888 (EC: NAS, PMID: 16464856); GO_0016049 (EC: IEA); GO_0019221 (EC: IDA, PMID: 12643274); GO_0030168 (EC: TAS, PMID: 7831669); GO_0031000 (EC: IEA); GO_0031018 (EC: ISS, PMID: 18719127); GO_0031175 (EC: IMP, PMID: 3264880); GO_0031667 (EC: IEA); GO_0032494 (EC: IEP, PMID: 16034137); GO_0032496 (EC: IEA); GO_0032722 (EC: IDA, PMID: 10510402); GO_0032722 (EC: IMP, PMID: 16034137); GO_0032755 (EC: IDA, PMID: 10510402); GO_0032868 (EC: IEA); GO_0032966 (EC: IDA, PMID: 12419823); GO_0033138 (EC: IDA, PMID: 7508917); GO_0033160 (EC: IEA); GO_0042102 (EC: IDA, PMID: 3130269); GO_0042493 (EC: IEA); GO_0042517 (EC: IDA, PMID: 12643274); GO_0042832 (EC: IEA); GO_0043065 (EC: IDA, PMID: 9949178); GO_0043066 (EC: IDA, PMID: 7595060); GO_0043154 (EC: IEA); GO_0043200 (EC: IEA); GO_0043410 (EC: IDA, PMID: 12419823); GO_0045079 (EC: ISS); GO_0045188 (EC: IEA); GO_0045429 (EC: IEA); GO_0045454 (EC: IEA); GO_0045599 (EC: NAS, PMID: 16464856); GO_0045630 (EC: IEA); GO_0045666 (EC: IEA); GO_0045669 (EC: TAS, PMID: 12372336); GO_0045721 (EC: IEA); GO_0045727 (EC: IDA, PMID: 16732314); GO_0045740 (EC: IEA); GO_0045765 (EC: IC, PMID: 8557680); GO_0045893 (EC: IDA, PMID: 7749983); GO_0045944 (EC: IDA, PMID: 17324931); GO_0046427 (EC: IDA, PMID: 12419823); GO_0046677 (EC: IEA); GO_0046716 (EC: IEA); GO_0046849 (EC: IEA); GO_0046888 (EC: IEA); GO_0048635 (EC: IEA); GO_0048661 (EC: IDA, PMID: 10510402); GO_0050679 (EC: IEA); GO_0050710 (EC: IEA); GO_0050731 (EC: IDA, PMID: 7508917); GO_0050829 (EC: IEP, PMID: 16034137); GO_0050830 (EC: IEP, PMID: 16034137); GO_0050871 (EC: IDA, PMID: 3491322); GO_0051024 (EC: IDA, PMID: 3491322); GO_0051091 (EC: IDA, PMID: 7749983); GO_0051092 (EC: IDA, Qualifier: NOT, PMID: 12419823); GO_0051384 (EC: IDA, PMID: 10443688); GO_0051592 (EC: IEA); GO_0051602 (EC: IEA); GO_0051607 (EC: IDA, PMID: 3023045); GO_0051897 (EC: IEA); GO_0051971 (EC: IEA); GO_0060445 (EC: IEA); GO_0060664 (EC: IEA); GO_0070091 (EC: ISS, PMID: 18719127); GO_0070102 (EC: IDA, PMID: 12552091); GO_0070301 (EC: IDA, PMID: 19168699); GO_0070374 (EC: IEA); GO_0072540 (EC: ISS); GO_1901215 (EC: IEA); GO_2000366 (EC: IC, PMID: 17324931); GO_2000676 (EC: TAS, PMID: 18719127) PMID: 1113021; 1291290; 1346976; 1610348; 1656094; 1883960; 1918997; 2037043; 2261637; 2444978; 2472117; 2610854; 2680567; 2788034; 2789513; 2829354; 2906047; 3023045; 3130269; 3264880; 3266463; 3279116; 3294161; 3320204; 3491322; 3500852; 3538015; 3758081; 7494249; 7508917; 7511078; 7511596; 7523444; 7526541; 7536422; 7553888; 7595060; 7656270; 7693046; 7704970; 7749983; 7803268; 7815507; 7831669; 7851440; 7986583; 8018916; 8086129; 8113688; 8179923; 8190832; 8206884; 8247028; 8510564; 8555185; 8557680; 8764000; 8806809; 8938574; 9094636; 9108403; 9118960; 9159484; 9169458; 9225992; 9378998; 9658081; 9671211; 9792375; 9927325; 9949178; 10358063; 10388525; 10415019; 10443688; 10510402; 10657672; 10671302; 10775602; 10777583; 10925276; 10964543; 11028446; 11040178; 11054276; 11072134; 11072751; 11116068; 11145851; 11167813; 11196676; 11196678; 11199329; 11204808; 11212160; 11224491; 11233912; 11238858; 11266856; 11266927; 11266928; 11267084; 11282548; 11312376; 11315919; 11316066; 11342474; 11354638; 11355017; 11371414; 11391238; 11397324; 11404167; 11448119; 11485024; 11500818; 11517385; 11520812; 11544427; 11544434; 11544437; 11557672; 11574109; 11640949; 11687509; 11689614; 11692078; 11703956; 11713964; 11716039; 11728144; 11733366; 11751408; 11758653; 11774563; 11777983; 11781191; 11788581; 11792588; 11794009; 11801594; 11818668; 11820460; 11847482; 11849463; 11853279; 11855786; 11858187; 11862386; 11884027; 11884029; 11884401; 11884403; 11889177; 11895465; 11902285; 11906646; 11914754; 11918227; 11919083; 11922913; 11949822; 11950481; 11950697; 11956023; 11959895; 11960393; 11961304; 11966578; 11981433; 11983287; 11984595; 11988246; 11988625; 11990931; 11992567; 12000745; 12012622; 12027404; 12031914; 12032172; 12036196; 12038454; 12047360; 12050565; 12051396; 12067898; 12070032; 12080442; 12082590; 12082592; 12086705; 12089333; 12089714; 12091348; 12095061; 12096924; 12096927; 12107724; 12110411; 12114287; 12117737; 12117921; 12117953; 12121679; 12133353; 12140751; 12149213; 12150965; 12151314; 12164325; 12165085; 12176919; 12183057; 12185451; 12187073; 12198224; 12200114; 12201209; 12202945; 12214260; 12215823; 12217290; 12218157; 12219016; 12220549; 12226829; 12232842; 12235153; 12239630; 12240899; 12297113; 12297725; 12352619; 12359225; 12359431; 12370346; 12370360; 12370503; 12371985; 12372336; 12382118; 12383455; 12391243; 12392859; 12393446; 12393542; 12393699; 12394188; 12396456; 12412787; 12413693; 12419823; 12430875; 12431817; 12445202; 12445803; 12451269; 12453469; 12468916; 12472176; 12477932; 12482836; 12483530; 12491092; 12493411; 12495721; 12507818; 12509497; 12517591; 12517814; 12519862; 12526950; 12540635; 12552091; 12553555; 12554901; 12558814; 12559950; 12560330; 12560873; 12571160; 12574335; 12574550; 12584029; 12585340; 12589429; 12590978; 12591385; 12592380; 12594059; 12595908; 12606524; 12615367; 12618859; 12626585; 12629515; 12633940; 12634650; 12637697; 12643274; 12647840; 12651071; 12653788; 12657090; 12660820; 12660878; 12663465; 12664314; 12668153; 12668157; 12681965; 12690205; 12694213; 12709682; 12713584; 12714254; 12714267; 12716337; 12719374; 12720537; 12727482; 12727794; 12727841; 12727948; 12727959; 12736743; 12737276; 12742994; 12743452; 12745542; 12746914; 12748876; 12754410; 12756345; 12757654; 12760309; 12768442; 12770686; 12771987; 12789531; 12790760; 12792728; 12794182; 12796383; 12799618; 12802423; 12810629; 12811627; 12815949; 12818128; 12819039; 12828754; 12829659; 12829785; 12830005; 12832117; 12832326; 12832423; 12839942; 12840146; 12843190; 12843357; 12846758; 12850808; 12853948; 12857677; 12857678; 12870175; 12871882; 12876073; 12883476; 12888915; 12897342; 12900415; 12901869; 12919773; 12923493; 12926107; 12928051; 12928784; 12932839; 12934185; 12937023; 12938195; 12940515; 12944981; 12945076; 12952969; 12958150; 12960275; 12960348; 12967650; 12969979; 12970232; 13678786; 14508181; 14508221; 14512079; 14514772; 14521945; 14522096; 14523169; 14523823; 14532843; 14557255; 14557477; 14557872; 14563376; 14566095; 14566255; 14568951; 14582815; 14585094; 14586325; 14604894; 14607690; 14625191; 14633738; 14634582; 14634584; 14643032; 14644408; 14654926; 14656692; 14657427; 14675394; 14676217; 14680981; 14684705; 14688371; 14691340; 14709647; 14711458; 14718574; 14733913; 14735187; 14739370; 14739540; 14748439; 14756669; 14872501; 14967376; 14969768; 14970177; 14981536; 14990346; 14997289; 15001458; 15005726; 15005841; 15015143; 15016829; 15019283; 15021309; 15025214; 15028733; 15030461; 15034082; 15036420; 15041164; 15041717; 15041721; 15044662; 15050298; 15051507; 15057902; 15070705; 15070960; 15072962; 15075299; 15083368; 15086488; 15100309; 15100312; 15104679; 15105457; 15118287; 15120188; 15120189; 15121272; 15135265; 15135368; 15152368; 15153787; 15154666; 15158360; 15166129; 15167972; 15170937; 15171792; 15172007; 15172469; 15180970; 15180973; 15189946; 15193488; 15193763; 15194285; 15194822; 15200452; 15203561; 15205588; 15207246; 15209388; 15212825; 15214940; 15220185; 15220553; 15223609; 15223612; 15230289; 15236771; 15256272; 15256287; 15265021; 15273081; 15273551; 15284113; 15288392; 15288631; 15292466; 15299003; 15303107; 15304054; 15304377; 15306845; 15308667; 15308783; 15308875; 15313471; 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15756054; 15760495; 15763337; 15769552; 15780075; 15784411; 15784966; 15787640; 15790343; 15790728; 15793269; 15809210; 15814282; 15816827; 15820616; 15831279; 15831362; 15837947; 15841043; 15845864; 15846175; 15847080; 15847702; 15848524; 15854776; 15854959; 15857508; 15859365; 15863389; 15863613; 15883744; 15894122; 15894558; 15894559; 15895091; 15896304; 15896753; 15900570; 15901906; 15902127; 15904871; 15905620; 15905624; 15910501; 15914210; 15917161; 15917409; 15919456; 15919832; 15925543; 15935883; 15939070; 15940250; 15951664; 15952088; 15955385; 15965659; 15969253; 15979549; 15981030; 15985484; 15985687; 15986200; 15988318; 15989803; 15992611; 15993715; 16005243; 16006475; 16006970; 16008970; 16009564; 16009674; 16014026; 16029943; 16032529; 16034137; 16043358; 16043746; 16051899; 16095005; 16096323; 16098388; 16099893; 16100774; 16104959; 16107886; 16110031; 16115611; 16115908; 16115919; 16127269; 16135414; 16140413; 16147857; 16148087; 16149059; 16150725; 16160188; 16164695; 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23233117; 23236659; 23242654; 23246692; 23250823; 23251686; 23255681; 23257175; 23262029; 23265967; 23269580; 23272057; 23276493; 23276701; 23281720; 23289913; 23298711; 23300019; 23303450; 23311694; 23320781; 23322593; 23322904; 23326472; 23332218; 23336844; 23344094; 23347173; 23348396; 23349093; 23349310; 23350010; 23357299; 23357300; 23363979; 23364322; 23369187; 23371411; 23375410; 23377045; 23378274; 23378460; 23380741; 23389820; 23392112; 23399848; 23408619; 23411129; 23415255; 23421536; 23423626; 23425215; 23428306; 23441314; 23444260; 23461479; 23461851; 23470607; 23470916; 23478175; 23480455; 23484124; 23487197; 23489698; 23490068; 23490413; 23498057; 23505291; 23506572; 23509207; 23510010; 23510983; 23517877; 23524623; 23525184; 23536722; 23538947; 23555579; 23555719; 23559389; 23561329; 23564454; 23564789; 23567762; 23569034; 23582441; 23582716; 23591770; 23593036; 23593346; 23601055; 23616277; 23617681; 23619188; 23622344; 23625043; 23630220; 23632023; 23633489; 23633491; 23637318; 23637926; 23638863; 23639700; 23648010; 23651237; 23654074; 23657600; 23658720; 23665320; 23666170; 23674845; 23701120; 23735697; 23737648; 23743311; 23746176; 23748363; 23756867; 23761639; 23762476; 23762858; 23766379; 23770252; 23774701; 23776669; 23777202; 23784949; 23785756; 23791019; 23792529; 23807226; 23815102; 23819403; 23821953; 23828679; 23832741; 23844163; 23884764; 23889749; 23893709; 23910616; 23913484; 23921153; 23928667; 23929842; 23933386; 23936495; 23953057; 23953866; 23954444; 23954871; 23968978; 23969696; 24032723; 24043651; 24044580; 24051035; 24077340; 24078775; 24114793; 24120137; 24136650; 24152848; 24186266; 24200066; 24243972; 24265545; 24294778; 24299316; 24308236; 24314919; 24340926; 24409674; 24434384; 24547612 interleukin 6 Ensembl:ENSG00000136244 HGNC:6018 HPRD:00970 MIM:147620 Vega:OTTHUMG00000023178 Other designations: B-cell differentiation factor|B-cell stimulatory factor 2|BSF-2|CDF|CTL differentiation factor|IFN-beta-2|hybridoma growth factor|interferon beta-2|interferon, beta 2|interleukin 6 (interferon, beta 2)|interleukin BSF-2|interleukin-6 IL6 Bin Zhao, Yue Liu, Oliver He CD127 CDW127 IL-7R-alpha IL7RA ILRA WEB: http://www.ncbi.nlm.nih.gov/gene IL7R interleukin 7 receptor 3575 5p13 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0000018 (EC: TAS, PMID: 9495344); GO_0000902 (EC: IEA); GO_0001915 (EC: IEA); GO_0002377 (EC: IEA); GO_0003823 (EC: TAS, PMID: 9495344); GO_0004917 (EC: TAS, PMID: 8266077); GO_0005515 (EC: IPI, PMID: 8266077); GO_0005576 (EC: IEA); GO_0005886 (EC: TAS); GO_0006955 (EC: TAS, PMID: 9843216); GO_0007165 (EC: TAS, PMID: 2317865); GO_0007166 (EC: TAS, PMID: 9843216); GO_0008361 (EC: IEA); GO_0009897 (EC: IEA); GO_0010628 (EC: IEA); GO_0016021 (EC: IEA); GO_0016049 (EC: IEA); GO_0030217 (EC: IEA); GO_0033089 (EC: IEA); GO_0038111 (EC: TAS, PMID: 8266077); GO_0042100 (EC: IEA); GO_0048535 (EC: IEA); GO_0048872 (EC: IEA) PMID: 1378163; 1634235; 2038316; 2317865; 7481769; 7515933; 7522165; 7719938; 8266077; 8647212; 8709637; 9215624; 9495344; 9843216; 9850848; 10390077; 10485656; 10702271; 11023514; 11418668; 11728342; 11858939; 12149213; 12354940; 12477932; 12792903; 14607751; 14726805; 15674389; 15728501; 15879083; 15947093; 15996891; 16004964; 16075257; 16357322; 16435014; 16614257; 16709829; 16818676; 16818678; 16837861; 16951331; 16967044; 17045841; 17079288; 17173927; 17207965; 17363735; 17442928; 17504502; 17554063; 17554260; 17579041; 17591854; 17609371; 17660530; 17660816; 17660817; 17894415; 17909291; 17928869; 17956896; 18025189; 18272905; 18292507; 18354419; 18390701; 18390743; 18563381; 18633131; 18676680; 18687755; 18721276; 18774388; 18847371; 19011158; 19096522; 19141282; 19147839; 19170196; 19231135; 19239367; 19240061; 19253027; 19349467; 19494261; 19505916; 19506219; 19523791; 19525953; 19525955; 19605492; 19625176; 19626041; 19667968; 19690616; 19692168; 19714586; 19744146; 19798683; 19834503; 19865102; 19866484; 19874827; 19879194; 19940860; 20035760; 20060740; 20072139; 20072142; 20097866; 20112030; 20167604; 20187771; 20190194; 20194581; 20219786; 20226540; 20237496; 20304824; 20368992; 20378664; 20379614; 20404156; 20424473; 20450971; 20466416; 20539016; 20638239; 20660706; 20800603; 20812848; 20815339; 20952689; 20962850; 21129157; 21131424; 21159243; 21161391; 21190413; 21209878; 21211217; 21244703; 21287555; 21297633; 21300823; 21326139; 21399635; 21481848; 21536738; 21543551; 21562156; 21625022; 21670443; 21680796; 21740271; 21757642; 21833088; 21839739; 21863001; 21892159; 21904560; 21920046; 21938017; 21987572; 22021616; 22145905; 22247488; 22262655; 22302060; 22310831; 22312161; 22329520; 22425228; 22471460; 22640659; 22661557; 22695916; 22824721; 22914435; 23000144; 23069254; 23151878; 23157741; 23207282; 23282736; 23301543; 23329834; 23454692; 23462217; 23610432; 23628622; 23692589; 23841696; 23888080 interleukin 7 receptor Ensembl:ENSG00000168685 HGNC:6024 HPRD:00893 MIM:146661 Vega:OTTHUMG00000090791 Other designations: CD127 antigen|IL-7 receptor subunit alpha|IL-7R subunit alpha|IL-7RA|interleukin 7 receptor alpha chain|interleukin 7 receptor isoform H5-6|interleukin-7 receptor subunit alpha IL7R Bin Zhao, Yue Liu, Oliver He CXCL8 GCP-1 GCP1 LECT LUCT LYNAP MDNCF MONAP NAF NAP-1 NAP1 WEB: http://www.ncbi.nlm.nih.gov/gene IL8 interleukin 8 3576 4q13-q21 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0001525 (EC: TAS, PMID: 11483765); GO_0002237 (EC: IDA, PMID: 19912257); GO_0005153 (EC: IPI, PMID: 1840701); GO_0005515 (EC: IPI, PMID: 10880251); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0006928 (EC: TAS, PMID: 10820279); GO_0006935 (EC: TAS, PMID: 12782716); GO_0006954 (EC: TAS, PMID: 11483765); GO_0006955 (EC: IEA); GO_0006987 (EC: TAS); GO_0007050 (EC: IDA, PMID: 11564821); GO_0007165 (EC: TAS, PMID: 10820279); GO_0007186 (EC: TAS, PMID: 8381837); GO_0008009 (EC: TAS, PMID: 12782716); GO_0008285 (EC: TAS, PMID: 9551928); GO_0019722 (EC: TAS, PMID: 11877327); GO_0030155 (EC: IDA, PMID: 2007144); GO_0030593 (EC: IGI, PMID: 11564821); GO_0030968 (EC: TAS); GO_0031623 (EC: IDA, PMID: 10734056); GO_0034976 (EC: IDA); GO_0035556 (EC: IDA, PMID: 10734056); GO_0042119 (EC: TAS, PMID: 11483765); GO_0044267 (EC: TAS); GO_0044344 (EC: IEP, PMID: 9407497); GO_0045091 (EC: IDA, PMID: 11483765); GO_0045744 (EC: IDA, PMID: 10734056); GO_0048566 (EC: IEP); GO_0050930 (EC: IGI, PMID: 11564821); GO_0071222 (EC: IDA, PMID: 19912257); GO_0071347 (EC: IEP, PMID: 9407497); GO_0071356 (EC: IEP, PMID: 9407497); GO_0090023 (EC: TAS, PMID: 1699135) PMID: 1281554; 1391327; 1639201; 1673289; 1699135; 1840701; 1895676; 1988949; 2005614; 2007144; 2145175; 2170450; 2182630; 2184886; 2200751; 2212672; 2456256; 2523801; 2555418; 2648135; 2648569; 2655583; 2659722; 2663993; 2664463; 2681204; 2834384; 2953813; 3057503; 3223947; 3260265; 3279957; 3322281; 3480540; 7673721; 7695626; 8077676; 8081002; 8381837; 8626516; 8631339; 8662698; 8663179; 8702798; 8995686; 9141135; 9323208; 9363947; 9378998; 9407497; 9464567; 9510190; 9551928; 9659156; 9828130; 9921412; 10343098; 10361232; 10368283; 10376933; 10491366; 10620615; 10707023; 10734056; 10764593; 10775602; 10820279; 10823949; 10880251; 10881932; 10929056; 10982368; 10985244; 10985253; 11023497; 11069235; 11083887; 11160671; 11226151; 11328384; 11483765; 11509627; 11564821; 11756416; 11784713; 11814358; 11854210; 11855786; 11868823; 11876744; 11877327; 11884401; 11884459; 11888846; 11896938; 11910304; 11911801; 11940655; 11950481; 11956621; 11960393; 11964077; 11966578; 11973337; 11978786; 11989790; 11999552; 12021366; 12027404; 12033786; 12034575; 12039947; 12055238; 12055326; 12056817; 12060853; 12067976; 12081586; 12089333; 12090473; 12091490; 12093676; 12096924; 12096927; 12100025; 12101072; 12115500; 12117737; 12117926; 12117969; 12117995; 12123753; 12126643; 12133438; 12139952; 12149127; 12150710; 12151316; 12151344; 12163591; 12164325; 12165085; 12169092; 12169272; 12186702; 12186913; 12187073; 12195386; 12223528; 12225945; 12239630; 12359770; 12364441; 12366401; 12370346; 12382118; 12384994; 12388718; 12388959; 12391099; 12393171; 12410798; 12415593; 12453441; 12477932; 12480084; 12485855; 12496258; 12502445; 12513912; 12520365; 12524080; 12529421; 12530093; 12533683; 12543081; 12547728; 12548717; 12565901; 12573991; 12576442; 12584113; 12586630; 12594001; 12594058; 12615831; 12626597; 12628493; 12632066; 12633940; 12634636; 12637525; 12646250; 12653788; 12654635; 12654834; 12660426; 12662377; 12702497; 12707271; 12720537; 12727029; 12729795; 12738388; 12744776; 12748056; 12748173; 12777373; 12782302; 12782716; 12792476; 12797546; 12802400; 12818188; 12820969; 12839933; 12839942; 12849706; 12850808; 12855659; 12857601; 12870115; 12871882; 12876073; 12898436; 12898448; 12901801; 12902511; 12909591; 12919697; 12933891; 12952969; 12960242; 13129857; 14500465; 14500470; 14500479; 14530367; 14550286; 14578856; 14604894; 14623984; 14625302; 14630611; 14634582; 14634584; 14641180; 14645117; 14657869; 14669337; 14672330; 14675394; 14676125; 14688120; 14711052; 14714557; 14718619; 14725568; 14729508; 14730209; 14756945; 14767470; 14977935; 15001458; 15021975; 15022458; 15039334; 15047831; 15057743; 15063730; 15069060; 15072962; 15077296; 15079071; 15085176; 15096327; 15102084; 15120188; 15133028; 15143062; 15146413; 15152368; 15158775; 15169673; 15178568; 15178703; 15181190; 15194816; 15196572; 15203561; 15203565; 15208657; 15208668; 15209388; 15214047; 15218164; 15220553; 15222686; 15265021; 15271933; 15273081; 15280021; 15280372; 15292066; 15297389; 15300588; 15302608; 15321994; 15321998; 15331599; 15337758; 15342208; 15356171; 15356575; 15358661; 15364108; 15379213; 15385484; 15453805; 15454487; 15469436; 15481145; 15489227; 15489334; 15494311; 15496610; 15498828; 15514971; 15521010; 15528384; 15529362; 15531763; 15534087; 15541716; 15542429; 15556942; 15564333; 15569594; 15579374; 15579377; 15579481; 15583145; 15585560; 15585673; 15591054; 15598788; 15607204; 15607368; 15609321; 15613411; 15615716; 15627645; 15630185; 15630732; 15641067; 15650393; 15650394; 15652404; 15652492; 15659384; 15661856; 15664665; 15667946; 15679580; 15701651; 15708897; 15710978; 15731050; 15746434; 15760459; 15760676; 15784717; 15803062; 15805227; 15828019; 15831558; 15845475; 15845476; 15845864; 15854776; 15862344; 15866212; 15894298; 15897801; 15902922; 15914533; 15917409; 15945132; 15962221; 15972644; 15976103; 15976326; 15979992; 15987860; 15989802; 16004996; 16007706; 16029496; 16038881; 16038986; 16039610; 16052590; 16085794; 16088182; 16096323; 16098041; 16098254; 16101867; 16107255; 16107886; 16110031; 16125276; 16134994; 16164755; 16166417; 16168518; 16185356; 16195477; 16195815; 16197369; 16202743; 16204411; 16207434; 16220540; 16240219; 16251188; 16251427; 16270354; 16273337; 16280123; 16284368; 16289597; 16293628; 16293707; 16299055; 16313297; 16317381; 16322472; 16365152; 16373669; 16375755; 16387844; 16394009; 16403098; 16406804; 16411061; 16429233; 16487026; 16491014; 16498082; 16499908; 16503988; 16525644; 16541418; 16545602; 16547413; 16547804; 16552338; 16552751; 16554734; 16573784; 16581825; 16618781; 16620395; 16632517; 16635219; 16679868; 16679918; 16687414; 16697675; 16698420; 16702372; 16719905; 16720107; 16757060; 16769764; 16775170; 16777061; 16788380; 16793206; 16794530; 16795034; 16797773; 16806015; 16820307; 16824064; 16825597; 16846747; 16862120; 16864907; 16864908; 16873245; 16890267; 16897191; 16926411; 16927373; 16928771; 16929824; 16934308; 16937502; 16937534; 16939660; 16959787; 16973972; 16978071; 16990258; 16996240; 17008880; 17020755; 17020928; 17022986; 17024463; 17035306; 17061983; 17075576; 17077296; 17078003; 17115422; 17124436; 17141217; 17141246; 17174061; 17189320; 17197385; 17202379; 17203209; 17204468; 17207568; 17207890; 17211588; 17215524; 17220369; 17222831; 17240051; 17244794; 17257314; 17268170; 17277102; 17285966; 17296422; 17304101; 17307163; 17307204; 17309748; 17314689; 17327408; 17336597; 17346315; 17351514; 17355643; 17356794; 17380888; 17388919; 17400536; 17416748; 17420005; 17433258; 17444864; 17456336; 17458901; 17462092; 17466952; 17471497; 17488320; 17494793; 17498253; 17498309; 17498967; 17513150; 17513455; 17517062; 17538964; 17540779; 17543146; 17550933; 17565687; 17581194; 17581316; 17592301; 17599774; 17617741; 17618838; 17620090; 17621625; 17624583; 17630697; 17638896; 17639289; 17667842; 17671691; 17671716; 17680645; 17681858; 17703412; 17707405; 17709521; 17709599; 17710424; 17716703; 17720627; 17725646; 17761179; 17761353; 17767856; 17786963; 17802898; 17805211; 17845205; 17848618; 17850672; 17854143; 17854923; 17869651; 17883593; 17908769; 17908789; 17914409; 17918746; 17931612; 17936667; 17944600; 17947704; 17949231; 17953379; 17974147; 17997161; 18019737; 18023202; 18025101; 18028768; 18031543; 18051367; 18054497; 18057554; 18060802; 18065201; 18070438; 18073500; 18074095; 18079209; 18080864; 18086557; 18086782; 18086816; 18090907; 18156286; 18164040; 18182303; 18184679; 18190463; 18191274; 18192685; 18206243; 18211687; 18226242; 18234802; 18235016; 18240029; 18249366; 18251157; 18252714; 18252863; 18258920; 18259970; 18260266; 18264801; 18266131; 18273643; 18274637; 18275043; 18276095; 18282421; 18283335; 18284424; 18299272; 18301299; 18305316; 18307536; 18309649; 18310311; 18314120; 18314475; 18315921; 18322253; 18363812; 18370868; 18380907; 18380966; 18385984; 18391721; 18391842; 18395088; 18397859; 18406509; 18413205; 18416756; 18424663; 18426885; 18441098; 18448485; 18457043; 18458115; 18463682; 18467491; 18469140; 18474653; 18479302; 18486623; 18487223; 18487355; 18501560; 18502145; 18502748; 18506929; 18511707; 18512730; 18515987; 18523031; 18523665; 18524891; 18536738; 18542040; 18545091; 18547996; 18549840; 18550579; 18563170; 18566434; 18568476; 18571457; 18574677; 18577758; 18593988; 18599499; 18607537; 18609140; 18615482; 18617617; 18623207; 18628242; 18628251; 18633131; 18635170; 18635816; 18637012; 18644894; 18646527; 18650551; 18657231; 18662984; 18665932; 18667484; 18671849; 18673463; 18676680; 18676870; 18678243; 18678662; 18679168; 18689272; 18690522; 18691435; 18692776; 18703508; 18710930; 18763295; 18772138; 18780829; 18785913; 18786178; 18789871; 18796448; 18799095; 18799285; 18800145; 18818748; 18824549; 18827892; 18830271; 18837094; 18850010; 18854173; 18926718; 18936229; 18942752; 18953959; 18953964; 18974369; 18977990; 18983460; 18985541; 18990769; 18992148; 19009622; 19010917; 19012493; 19013323; 19013427; 19013788; 19015376; 19019335; 19021203; 19026125; 19028451; 19029276; 19035451; 19046427; 19047751; 19053024; 19055487; 19064995; 19066394; 19074641; 19074885; 19077731; 19086264; 19086996; 19096229; 19103522; 19109168; 19109405; 19112107; 19118103; 19120897; 19136823; 19147919; 19156359; 19157552; 19158563; 19162161; 19170075; 19170196; 19176759; 19180796; 19184985; 19185507; 19189859; 19201759; 19203362; 19229069; 19232500; 19233564; 19234105; 19238009; 19238444; 19239421; 19246914; 19246943; 19247692; 19254160; 19258923; 19267370; 19272692; 19275586; 19275588; 19285667; 19286927; 19300393; 19303321; 19325234; 19328242; 19333684; 19336370; 19338485; 19339032; 19343203; 19345795; 19346317; 19347053; 19348790; 19349617; 19350238; 19357230; 19357773; 19358850; 19359602; 19360326; 19363120; 19364277; 19369450; 19372628; 19376162; 19376732; 19377236; 19379593; 19383348; 19390575; 19393580; 19401270; 19404719; 19410569; 19423540; 19426598; 19427781; 19436689; 19446037; 19448676; 19454705; 19460731; 19460789; 19467703; 19470239; 19474090; 19484147; 19494510; 19496969; 19505916; 19506726; 19506876; 19514335; 19526283; 19527294; 19527514; 19535567; 19556613; 19561378; 19567187; 19570208; 19570915; 19573080; 19578117; 19588509; 19591568; 19596978; 19597126; 19597830; 19608678; 19608729; 19617600; 19622587; 19625176; 19646263; 19661010; 19661014; 19667085; 19668110; 19668231; 19674346; 19681642; 19688109; 19692168; 19692203; 19694638; 19699525; 19714766; 19719901; 19720161; 19726162; 19726280; 19732956; 19733855; 19734226; 19734969; 19747898; 19751561; 19755917; 19760027; 19773182; 19773279; 19773451; 19777350; 19786303; 19787256; 19789190; 19794965; 19799797; 19801670; 19805069; 19816813; 19819266; 19819989; 19834107; 19835476; 19837667; 19838218; 19840968; 19842025; 19852851; 19855073; 19858310; 19874800; 19887538; 19890050; 19898747; 19904283; 19906815; 19912257; 19913121; 19914270; 19929572; 19932683; 19948975; 19950606; 19956874; 19994728; 19995941; 19996617; 19996656; 20004360; 20005738; 20008399; 20012528; 20015396; 20026745; 20037740; 20038977; 20039880; 20044268; 20047188; 20056178; 20061995; 20084405; 20102417; 20103651; 20106902; 20107186; 20118277; 20127012; 20148189; 20150959; 20162422; 20166885; 20172018; 20174873; 20181930; 20185670; 20187772; 20190550; 20194723; 20194818; 20198307; 20206550; 20207250; 20217044; 20218918; 20220108; 20222161; 20227257; 20237496; 20298300; 20300863; 20306660; 20363151; 20363644; 20369436; 20378727; 20379392; 20380014; 20384861; 20384872; 20398511; 20399512; 20400187; 20400292; 20405297; 20406964; 20410302; 20418110; 20431935; 20437058; 20438785; 20441409; 20444155; 20448351; 20452482; 20453000; 20454998; 20463618; 20465445; 20470938; 20473875; 20483454; 20483667; 20485444; 20486195; 20487506; 20488171; 20501448; 20503287; 20506652; 20510674; 20512787; 20518825; 20523065; 20540789; 20540853; 20540976; 20546607; 20556966; 20562101; 20564140; 20568250; 20571236; 20574123; 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22935637; 22939387; 22964303; 22983351; 23000201; 23002445; 23007230; 23029099; 23029125; 23042271; 23043537; 23058014; 23070988; 23072563; 23091318; 23092711; 23110185; 23118425; 23124693; 23125416; 23128233; 23145117; 23149083; 23160385; 23160800; 23165450; 23168996; 23197259; 23198942; 23204162; 23207068; 23221335; 23225384; 23242124; 23244113; 23247723; 23251686; 23259986; 23268406; 23269580; 23269842; 23276701; 23297014; 23321310; 23325853; 23325889; 23327592; 23334651; 23342280; 23347173; 23389820; 23392805; 23403077; 23405070; 23409168; 23418512; 23418647; 23425997; 23434371; 23441821; 23444260; 23456515; 23463699; 23478175; 23490412; 23498057; 23519334; 23526216; 23545310; 23546865; 23546898; 23576566; 23577098; 23584701; 23597430; 23603048; 23610962; 23615914; 23624000; 23632023; 23633491; 23680697; 23688054; 23704827; 23712703; 23714383; 23762476; 23770363; 23773024; 23779254; 23782136; 23785756; 23821953; 23831257; 23831464; 23867456; 23870461; 23887394; 23888551; 23890815; 23894194; 23912333; 23924923; 23972657; 23992011; 24032673; 24076166; 24080022; 24099766; 24121485; 24161763; 24186266; 24260304; 24273918; 24284797; 24313836; 24344010 interleukin 8 Ensembl:ENSG00000169429 HGNC:6025 HPRD:00909 MIM:146930 Vega:OTTHUMG00000151316 Other designations: T-cell chemotactic factor|alveolar macrophage chemotactic factor I|beta endothelial cell-derived neutrophil activating peptide|beta-thromboglobulin-like protein|chemokine (C-X-C motif) ligand 8|emoctakin|granulocyte chemotactic protein 1|interleukin-8|lung giant cell carcinoma-derived chemotactic protein|lymphocyte derived neutrophil activating peptide|monocyte-derived neutrophil chemotactic factor|monocyte-derived neutrophil-activating peptide|neutrophil-activating peptide 1|small inducible cytokine subfamily B, member 8|tumor necrosis factor-induced gene 1 IL8 Bin Zhao, Yue Liu, Oliver He CSIF GVHDS IL-10 IL10A TGIF WEB: http://www.ncbi.nlm.nih.gov/gene IL10 interleukin 10 3586 RP11-262N9.1 1q31-q32 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0002237 (EC: IDA, PMID: 17449476); GO_0002740 (EC: IDA, PMID: 10443688); GO_0002875 (EC: IEA); GO_0002904 (EC: IDA, PMID: 9184696); GO_0005125 (EC: NAS, PMID: 10443688); GO_0005141 (EC: NAS, PMID: 1847510); GO_0005615 (EC: IDA, PMID: 10443688); GO_0006954 (EC: IDA, PMID: 10443688); GO_0007253 (EC: NAS, PMID: 10975994); GO_0007267 (EC: IC, PMID: 1847510); GO_0008083 (EC: NAS, PMID: 1371884); GO_0010468 (EC: IDA, PMID: 9184696); GO_0014823 (EC: IEA); GO_0014854 (EC: IEA); GO_0030097 (EC: TAS, PMID: 11244051); GO_0030183 (EC: NAS, PMID: 8228801); GO_0030595 (EC: TAS, PMID: 9405662); GO_0030886 (EC: IEA); GO_0030889 (EC: IDA, PMID: 9184696); GO_0032689 (EC: IEA); GO_0032695 (EC: IEA); GO_0032715 (EC: IDA, PMID: 10443688); GO_0032720 (EC: IEA); GO_0032800 (EC: IDA, PMID: 10443688); GO_0032868 (EC: IEA); GO_0034465 (EC: IEA); GO_0042092 (EC: TAS, PMID: 11244051); GO_0042100 (EC: NAS, PMID: 8228801); GO_0042130 (EC: NAS, PMID: 14971032); GO_0042493 (EC: IEA); GO_0042536 (EC: IEA); GO_0042742 (EC: IEA); GO_0043066 (EC: NAS, PMID: 8312229); GO_0044130 (EC: IEA); GO_0045019 (EC: IEA); GO_0045191 (EC: NAS, PMID: 8228801); GO_0045347 (EC: TAS, PMID: 11244051); GO_0045348 (EC: IEA); GO_0045355 (EC: NAS, PMID: 9637497); GO_0045893 (EC: IDA, PMID: 7749983); GO_0045944 (EC: IEA); GO_0050715 (EC: IDA, PMID: 10443688); GO_0051045 (EC: IDA, PMID: 18383040); GO_0051091 (EC: IDA, PMID: 7749983); GO_0051384 (EC: IDA, PMID: 10443688); GO_0051930 (EC: IEA); GO_0060670 (EC: IEA); GO_0071222 (EC: NAS, PMID: 14971032); GO_0071392 (EC: IEA) PMID: 1121048; 1350294; 1371884; 1847510; 2173142; 7511078; 7527834; 7547951; 7553888; 7590988; 7591871; 7695626; 7749063; 7749983; 7759550; 7815507; 8037735; 8228801; 8248239; 8312229; 8364028; 8402911; 8499633; 8590020; 8764000; 8881045; 8897595; 8898665; 8910398; 9043871; 9096366; 9108403; 9143942; 9162098; 9184696; 9225992; 9234486; 9312047; 9334723; 9405662; 9463379; 9534962; 9637497; 9658081; 9689103; 9743208; 9788463; 10064624; 10089566; 10231374; 10443688; 10542212; 10714547; 10775602; 10807185; 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20191386; 20195402; 20195716; 20196868; 20200511; 20202139; 20204402; 20207250; 20207982; 20213229; 20217044; 20227257; 20227772; 20228669; 20228798; 20228799; 20232770; 20233508; 20236506; 20236616; 20237496; 20299965; 20302034; 20305143; 20306684; 20335604; 20337945; 20339193; 20339966; 20349753; 20356901; 20359252; 20363151; 20367137; 20369436; 20370995; 20371920; 20378550; 20378664; 20381257; 20384861; 20385468; 20388088; 20388104; 20393813; 20395963; 20399512; 20404426; 20410487; 20413987; 20416077; 20418110; 20419805; 20421626; 20424473; 20424554; 20424918; 20430716; 20431935; 20438703; 20445748; 20447254; 20448110; 20452482; 20453000; 20454933; 20457266; 20459687; 20463618; 20470442; 20471133; 20472930; 20473875; 20477882; 20482524; 20484443; 20484876; 20485362; 20485444; 20486195; 20490277; 20490891; 20503287; 20509889; 20518833; 20518842; 20519163; 20523065; 20525402; 20527514; 20529592; 20530519; 20531015; 20536507; 20536548; 20551628; 20553628; 20558465; 20561040; 20564140; 20565774; 20567520; 20568250; 20570082; 20571871; 20576226; 20578820; 20587610; 20588103; 20588308; 20589076; 20591588; 20592893; 20595152; 20602615; 20603037; 20603050; 20617924; 20618176; 20622753; 20622878; 20622879; 20625422; 20628086; 20628373; 20638860; 20640364; 20644561; 20646924; 20650298; 20659236; 20661303; 20661604; 20662694; 20671651; 20673868; 20711808; 20714960; 20716621; 20720222; 20722024; 20723894; 20725607; 20732366; 20735825; 20737205; 20798845; 20804371; 20805562; 20807264; 20809522; 20809684; 20811626; 20825427; 20825636; 20830806; 20835611; 20838432; 20839488; 20860222; 20861424; 20863526; 20879862; 20880001; 20880267; 20880745; 20881642; 20883321; 20884746; 20889146; 20889800; 20922456; 20927126; 20934598; 20934961; 20942272; 20952070; 20953818; 20957732; 20970781; 20976276; 21030268; 21037509; 21040915; 21048327; 21052690; 21054877; 21055074; 21055733; 21057561; 21057730; 21061265; 21067483; 21067752; 21068755; 21076061; 21086908; 21088899; 21090240; 21098222; 21102463; 21107607; 21107665; 21123382; 21131395; 21135123; 21138342; 21160051; 21168854; 21183270; 21191065; 21205466; 21211963; 21215074; 21215285; 21216474; 21223691; 21227406; 21238445; 21239715; 21240493; 21254836; 21255795; 21267581; 21281983; 21297633; 21300911; 21303362; 21309719; 21314735; 21316985; 21317876; 21323660; 21328800; 21332458; 21339768; 21354456; 21357266; 21357402; 21358669; 21359250; 21372199; 21398611; 21398617; 21402594; 21406270; 21413929; 21424183; 21426411; 21439624; 21440743; 21455338; 21463487; 21466366; 21467695; 21468030; 21468579; 21478113; 21481602; 21508509; 21518800; 21519827; 21526166; 21527907; 21532858; 21549291; 21553228; 21558138; 21560494; 21567173; 21595995; 21609779; 21621860; 21624746; 21626471; 21641950; 21642542; 21658228; 21658363; 21669226; 21688665; 21689404; 21699407; 21721376; 21724486; 21725623; 21729106; 21730023; 21744325; 21756510; 21757655; 21764596; 21767236; 21777343; 21779975; 21786452; 21791113; 21792878; 21808111; 21812905; 21816135; 21829393; 21830424; 21839042; 21858117; 21861711; 21862302; 21863566; 21863628; 21869490; 21873118; 21876975; 21878338; 21901441; 21902578; 21909800; 21910858; 21917128; 21918473; 21923667; 21925952; 21926547; 21931651; 21936714; 21940055; 21968303; 21972680; 21986577; 21998459; 22010076; 22019000; 22032897; 22033829; 22038351; 22048455; 22050548; 22057691; 22057973; 22058059; 22070668; 22075762; 22077544; 22079540; 22081333; 22082370; 22092594; 22095765; 22100578; 22105495; 22116520; 22122951; 22123389; 22129927; 22140263; 22140472; 22144535; 22156547; 22157213; 22158873; 22160576; 22168225; 22172723; 22174866; 22176654; 22182686; 22184725; 22187388; 22189417; 22189756; 22205204; 22205395; 22213066; 22219323; 22225835; 22235320; 22239992; 22263663; 22279662; 22287022; 22288916; 22298356; 22307790; 22311038; 22323454; 22325340; 22335769; 22347492; 22350281; 22356904; 22358381; 22366404; 22371646; 22378604; 22387064; 22390924; 22393278; 22410761; 22416256; 22424164; 22425021; 22425265; 22427230; 22436502; 22442690; 22445549; 22466287; 22475179; 22484198; 22484241; 22487811; 22494514; 22503116; 22507621; 22520513; 22529524; 22535664; 22537067; 22537751; 22544931; 22547702; 22547705; 22549091; 22556042; 22565155; 22566507; 22572643; 22575708; 22578382; 22580886; 22582500; 22586040; 22592039; 22592860; 22594912; 22595646; 22628023; 22634719; 22644143; 22653776; 22655468; 22664006; 22673037; 22677268; 22678905; 22681958; 22682876; 22685028; 22687336; 22698805; 22710869; 22711892; 22715992; 22732092; 22740130; 22749664; 22753934; 22753938; 22763734; 22768144; 22784413; 22788775; 22795294; 22796266; 22805022; 22812212; 22812241; 22818022; 22825546; 22835429; 22835835; 22848356; 22850906; 22851691; 22859398; 22859944; 22880107; 22886309; 22897390; 22902304; 22911481; 22924705; 22931953; 22932817; 22940633; 22966128; 22972930; 22981868; 22986179; 22989497; 23013217; 23013641; 23017230; 23020144; 23021880; 23027536; 23028907; 23029361; 23034167; 23046616; 23046617; 23053983; 23062006; 23062580; 23069299; 23071313; 23073467; 23075771; 23079832; 23086275; 23088578; 23094074; 23095823; 23096091; 23118878; 23125413; 23128233; 23143946; 23149083; 23152883; 23159283; 23166328; 23168096; 23185315; 23192326; 23207823; 23209731; 23210681; 23220432; 23225254; 23232337; 23235789; 23237063; 23237776; 23251077; 23265747; 23272193; 23273903; 23273955; 23276701; 23294711; 23299779; 23300021; 23300769; 23325892; 23326478; 23334981; 23335974; 23343479; 23349310; 23355741; 23357299; 23363891; 23376084; 23379624; 23380741; 23415626; 23416458; 23430974; 23432860; 23438682; 23444260; 23449984; 23450495; 23453286; 23460834; 23485354; 23485538; 23485736; 23488731; 23498167; 23525950; 23541976; 23544075; 23556339; 23562725; 23570798; 23574339; 23582441; 23583365; 23591975; 23595519; 23602200; 23602201; 23607333; 23613317; 23623844; 23638863; 23640160; 23640982; 23645090; 23654353; 23663047; 23663500; 23668806; 23679256; 23690289; 23711712; 23712703; 23716201; 23720844; 23723980; 23725154; 23725178; 23733877; 23743567; 23749933; 23752129; 23752604; 23762097; 23768819; 23772925; 23777202; 23797738; 23798430; 23814099; 23818986; 23834952; 23838435; 23846686; 23875023; 23880295; 23880623; 23886125; 23897063; 23898109; 23901045; 23910644; 23936042; 23990628; 24015034; 24042116; 24043893; 24067460; 24077340; 24130510; 24174668; 24216477; 24327156; 24340926; 24379064 interleukin 10 Ensembl:ENSG00000136634 HGNC:5962 HPRD:00495 MIM:124092 Vega:OTTHUMG00000036386 Other designations: T-cell growth inhibitory factor|cytokine synthesis inhibitory factor|interleukin-10 IL10 Bin Zhao, Yue Liu, Oliver He CTLA8 IL-17 IL-17A IL17 WEB: http://www.ncbi.nlm.nih.gov/gene IL17A interleukin 17A 3605 6p12 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0005125 (EC: IEA); GO_0005615 (EC: IEA); GO_0006486 (EC: TAS, PMID: 7499828); GO_0006915 (EC: TAS, PMID: 7499828); GO_0006954 (EC: IEA); GO_0006955 (EC: TAS, PMID: 7499828); GO_0007267 (EC: TAS, PMID: 7499828); GO_0008219 (EC: TAS, PMID: 8390535); GO_0009897 (EC: IEA); GO_0032747 (EC: IDA); GO_0045672 (EC: IDA, PMID: 17888176); GO_0045944 (EC: IDA, PMID: 16982811); GO_0071347 (EC: IEA); GO_0072537 (EC: IDA); GO_1900017 (EC: IEA) PMID: 7499828; 8390535; 8676080; 9367539; 9518462; 9764847; 9765276; 9878122; 9973514; 10225978; 10328864; 11472426; 11936535; 12165487; 12183057; 12297109; 12417590; 12421973; 12477932; 12667656; 12721789; 12772186; 14718574; 15025215; 15218177; 15305382; 15321994; 15340161; 15388258; 15459204; 15489334; 15535837; 15642151; 15811054; 15811056; 15845864; 15916703; 15972674; 16008887; 16207434; 16419159; 16533341; 16859642; 16874957; 16982811; 17083726; 17207965; 17384030; 17486092; 17545490; 17613395; 17635957; 17644317; 17682667; 17703412; 17828618; 17876645; 17888176; 17912466; 17965778; 17982039; 18075825; 18079209; 18092129; 18097022; 18156204; 18157139; 18203309; 18311793; 18311821; 18329249; 18337720; 18362142; 18373953; 18392953; 18400187; 18432274; 18434325; 18440075; 18446062; 18483277; 18501882; 18512780; 18579762; 18585926; 18588867; 18591410; 18591412; 18600325; 18602680; 18615114; 18617638; 18663128; 18669891; 18684971; 18684981; 18769923; 18786233; 18793860; 18802076; 18802458; 18832156; 18926293; 18941172; 18941201; 18941244; 18992745; 19014637; 19050268; 19050297; 19056110; 19075290; 19079215; 19124735; 19127457; 19131064; 19174010; 19177575; 19187277; 19199539; 19201028; 19208686; 19210369; 19226302; 19234216; 19235914; 19239321; 19240794; 19242409; 19244159; 19247658; 19255340; 19258923; 19260856; 19265112; 19265168; 19273860; 19295614; 19322214; 19325128; 19329213; 19333939; 19339380; 19343046; 19347604; 19404732; 19414056; 19424201; 19426392; 19428338; 19431078; 19439651; 19457169; 19476112; 19476435; 19479806; 19479869; 19483719; 19485773; 19487306; 19535626; 19536281; 19543237; 19545679; 19550095; 19566585; 19587005; 19589271; 19620772; 19627579; 19628296; 19672092; 19692128; 19700754; 19724898; 19728295; 19737863; 19741026; 19741298; 19748982; 19797506; 19822653; 19825828; 19830738; 19835883; 19838198; 19843935; 19844129; 19857751; 19861249; 19878510; 19895848; 19904747; 19907660; 19912248; 19912249; 19912251; 19912252; 19917178; 19929695; 19931506; 19936899; 19940509; 19968632; 19969371; 20016509; 20022135; 20026736; 20026744; 20032993; 20042592; 20061410; 20070409; 20099977; 20106535; 20107878; 20112373; 20127054; 20159251; 20167120; 20173024; 20173782; 20185422; 20200272; 20207161; 20228195; 20228199; 20228201; 20237496; 20299682; 20305686; 20306850; 20334681; 20339909; 20350814; 20352428; 20357253; 20357258; 20379614; 20395418; 20418110; 20437253; 20445554; 20493423; 20503287; 20506642; 20511548; 20511558; 20515574; 20533542; 20563617; 20581151; 20592279; 20596075; 20596087; 20618180; 20620187; 20624941; 20646637; 20664052; 20665551; 20667562; 20682672; 20685755; 20718783; 20720207; 20810982; 20812962; 20814021; 20825419; 20840794; 20848848; 20856230; 20874252; 20889558; 20952660; 20974984; 20976193; 21029245; 21044126; 21048031; 21060663; 21062492; 21062626; 21091665; 21103795; 21109552; 21116820; 21116822; 21124836; 21129248; 21143945; 21161669; 21178008; 21181220; 21182094; 21189442; 21196925; 21204897; 21217016; 21217785; 21225222; 21231819; 21236478; 21245272; 21248258; 21282514; 21292197; 21294864; 21294892; 21346774; 21357259; 21369705; 21396350; 21426710; 21440743; 21447959; 21455110; 21474820; 21477350; 21478400; 21498517; 21505189; 21518507; 21521755; 21524680; 21526159; 21528751; 21530487; 21530504; 21546069; 21573786; 21602493; 21606249; 21625016; 21637854; 21641076; 21651870; 21654633; 21654831; 21659501; 21672939; 21674477; 21685328; 21689402; 21691744; 21710691; 21721104; 21732985; 21737283; 21741035; 21746882; 21749686; 21752104; 21755509; 21760911; 21761512; 21762495; 21781514; 21785272; 21795048; 21796151; 21798287; 21828034; 21865860; 21872532; 21887369; 21894475; 21896776; 21897004; 21904631; 21911461; 21926059; 21929599; 21943235; 21949023; 21949691; 21949768; 21959034; 21960179; 21964025; 21966367; 21968742; 21972211; 21977994; 21980832; 21982596; 21984702; 21994045; 21996014; 21996293; 21998454; 22020264; 22025620; 22026963; 22028838; 22031591; 22035960; 22042699; 22048239; 22051182; 22079540; 22082565; 22123224; 22123380; 22138182; 22171994; 22186234; 22191467; 22207110; 22219048; 22219320; 22229441; 22235998; 22237416; 22258491; 22261033; 22262980; 22302060; 22312940; 22362575; 22395503; 22417709; 22419580; 22442208; 22444300; 22461912; 22462422; 22464815; 22466961; 22483685; 22496194; 22507625; 22527432; 22532631; 22534817; 22537748; 22541406; 22559912; 22563781; 22585726; 22627363; 22629719; 22641009; 22647601; 22655909; 22660635; 22677045; 22683003; 22692973; 22696687; 22744708; 22748016; 22759859; 22789685; 22795370; 22800829; 22808218; 22812212; 22814515; 22816799; 22818182; 22819243; 22825627; 22827846; 22840497; 22851868; 22876724; 22880090; 22902060; 22902077; 22928014; 22955875; 22960198; 22965992; 22974591; 22984500; 22989213; 22989874; 22993227; 23009764; 23012664; 23018031; 23019580; 23033269; 23034167; 23049595; 23071273; 23091305; 23098499; 23101722; 23131423; 23137879; 23147652; 23158993; 23181791; 23192273; 23204182; 23207971; 23215950; 23223131; 23226545; 23226926; 23227158; 23232337; 23237940; 23238559; 23262228; 23269607; 23271701; 23273903; 23274784; 23274801; 23298391; 23304063; 23322904; 23323524; 23327801; 23334598; 23335253; 23352235; 23388330; 23400328; 23401702; 23409930; 23411595; 23414478; 23416458; 23444260; 23448394; 23448791; 23472658; 23485736; 23490420; 23501056; 23505558; 23555269; 23555579; 23596310; 23613503; 23614810; 23616636; 23652560; 23656167; 23661335; 23664273; 23683514; 23690194; 23692034; 23695682; 23711712; 23732752; 23764374; 23800059; 23815507; 23825942; 23826419; 23842754; 23849453; 23876429; 23888551; 23923066; 23924903; 23965869; 23970818; 23995070; 24021410; 24042116; 24080022; 24086143; 24096234; 24120361; 24141678; 24185279; 24323355; 24409666; 24409674; 24579469 interleukin 17A Ensembl:ENSG00000112115 HGNC:5981 HPRD:04396 MIM:603149 Vega:OTTHUMG00000014840 Other designations: CTLA-8|cytotoxic T-lymphocyte-associated antigen 8|cytotoxic T-lymphocyte-associated protein 8|interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)|interleukin-17A IL17A Bin Zhao, Yue Liu, Oliver He IGIF IL-18 IL-1g IL1F4 WEB: http://www.ncbi.nlm.nih.gov/gene IL18 interleukin 18 3606 11q22.2-q22.3 20140409 9606 11 protein-coding Official from a nomenclature committee GO_0000165 (EC: IMP); GO_0001525 (EC: IDA, PMID: 11466388); GO_0005125 (EC: TAS, PMID: 11598150); GO_0005576 (EC: TAS, PMID: 11598150); GO_0005615 (EC: IEA); GO_0005829 (EC: TAS); GO_0006954 (EC: IDA); GO_0006955 (EC: TAS, PMID: 8999896); GO_0007267 (EC: TAS, PMID: 9792649); GO_0010628 (EC: IEA); GO_0030101 (EC: IEA); GO_0030155 (EC: IDA, PMID: 11477102); GO_0030431 (EC: ISS, PMID: 11506998); GO_0031663 (EC: IDA); GO_0032725 (EC: IDA); GO_0032729 (EC: IDA, PMID: 19088061); GO_0032740 (EC: IDA, PMID: 16482511); GO_0032819 (EC: IDA, PMID: 19088061); GO_0034105 (EC: IC, PMID: 16482511); GO_0042033 (EC: TAS, PMID: 11598150); GO_0042088 (EC: IDA, PMID: 8766574); GO_0042092 (EC: TAS, PMID: 11905033); GO_0042094 (EC: TAS, PMID: 10653850); GO_0042095 (EC: TAS, PMID: 10227975); GO_0042104 (EC: IDA, PMID: 10000000); GO_0042231 (EC: TAS, PMID: 10227975); GO_0042253 (EC: TAS, PMID: 10653850); GO_0042346 (EC: IEA); GO_0050729 (EC: IC, PMID: 16482511); GO_0051142 (EC: IDA, PMID: 19088061); GO_0071407 (EC: IDA) PMID: 7477296; 8666798; 8766574; 8999548; 8999896; 9108085; 9325300; 9334240; 9693051; 9792649; 10000000; 10227975; 10460493; 10639148; 10653850; 10681439; 11466388; 11477102; 11506998; 11598150; 11714750; 11714826; 11770036; 11781190; 11790772; 11798931; 11805151; 11855785; 11888846; 11894141; 11895335; 11905033; 11907126; 11920321; 11936774; 11958300; 11960649; 12096920; 12105209; 12149432; 12172382; 12207348; 12366781; 12377944; 12381835; 12387830; 12390326; 12401730; 12424620; 12438388; 12456593; 12472176; 12472673; 12477932; 12482935; 12517977; 12527894; 12571842; 12572878; 12594843; 12616343; 12654091; 12679613; 12738632; 12748489; 12759422; 12788305; 12794718; 12796418; 12819633; 12847274; 12857602; 12858406; 12874316; 12911784; 12938205; 12941729; 12947340; 14504095; 14556808; 14561165; 14581397; 14584052; 14605444; 14617033; 14630085; 14640907; 14660053; 14662834; 14679107; 14697936; 14709415; 14718574; 14725568; 14734463; 14738910; 14764217; 14960579; 14991611; 14998974; 15005726; 15104599; 15140035; 15212675; 15225625; 15230817; 15277983; 15302292; 15308504; 15326478; 15327523; 15358638; 15371332; 15463896; 15471361; 15489334; 15555533; 15581980; 15585330; 15643599; 15644127; 15645140; 15646011; 15663745; 15674367; 15710458; 15728489; 15731584; 15753257; 15760905; 15786533; 15789055; 15802534; 15806006; 15816833; 15826815; 15842270; 15860738; 15860756; 15863395; 15894108; 15896202; 15927856; 15932380; 15955098; 15963597; 16024007; 16043644; 16049975; 16051062; 16052331; 16053025; 16059673; 16061751; 16078996; 16084898; 16186395; 16215941; 16243298; 16260350; 16266857; 16273766; 16306550; 16306764; 16306765; 16315783; 16316892; 16325763; 16339124; 16358956; 16373926; 16405895; 16406079; 16406656; 16420594; 16424284; 16428475; 16433722; 16433859; 16443795; 16482511; 16492204; 16493047; 16514436; 16516851; 16556702; 16563174; 16571086; 16584830; 16621994; 16635219; 16647017; 16650813; 16671950; 16738942; 16759385; 16767839; 16772281; 16780720; 16806233; 16820919; 16827865; 16839849; 16842597; 16883062; 16903774; 16909454; 16943580; 16948912; 16971411; 16979683; 17001321; 17016692; 17027359; 17055358; 17072982; 17075246; 17077020; 17117487; 17142727; 17192354; 17222831; 17225121; 17225924; 17235324; 17237446; 17252172; 17262717; 17299019; 17301041; 17336309; 17343316; 17355643; 17361200; 17364073; 17373930; 17396252; 17399992; 17445542; 17461482; 17487222; 17517100; 17517876; 17530707; 17586702; 17597334; 17597823; 17605864; 17610422; 17611614; 17611643; 17611971; 17625598; 17626902; 17658666; 17666338; 17671745; 17674327; 17683383; 17687255; 17688413; 17691022; 17703412; 17708609; 17765248; 17767553; 17845300; 17851127; 17851835; 17854431; 17893261; 17907957; 17919265; 17922692; 17948066; 17951325; 17959666; 17962365; 17964972; 17965486; 17981284; 17984243; 17988833; 18024284; 18043444; 18050195; 18050226; 18064631; 18092318; 18093181; 18160214; 18160936; 18163476; 18165223; 18178861; 18200581; 18225542; 18225563; 18235016; 18237555; 18250135; 18279187; 18286551; 18287807; 18295214; 18295340; 18297714; 18307517; 18336908; 18359638; 18386818; 18391570; 18399311; 18433937; 18442334; 18464913; 18484687; 18504197; 18514203; 18514661; 18520705; 18523012; 18538088; 18555694; 18562922; 18566306; 18594952; 18599493; 18628791; 18632660; 18662786; 18678419; 18683145; 18684981; 18685607; 18706445; 18773860; 18777510; 18780764; 18781864; 18803662; 18818748; 18818761; 18819819; 18821674; 18835036; 18853133; 18922682; 18930181; 18937548; 18940019; 18949051; 18983635; 19016763; 19019335; 19031096; 19036565; 19064572; 19073159; 19074166; 19074885; 19077897; 19088061; 19091595; 19092166; 19097518; 19102398; 19110334; 19126646; 19131059; 19138654; 19152241; 19176284; 19178691; 19200605; 19208460; 19229765; 19230467; 19236760; 19247692; 19258923; 19263242; 19265133; 19265174; 19285156; 19288449; 19309308; 19339355; 19342689; 19347053; 19387647; 19390575; 19394601; 19403407; 19420105; 19443970; 19453784; 19455410; 19466545; 19469892; 19470251; 19473509; 19508433; 19509137; 19527514; 19538326; 19550095; 19553661; 19573080; 19581111; 19584085; 19593889; 19605669; 19622039; 19633236; 19637196; 19638090; 19638429; 19639049; 19642044; 19657406; 19669125; 19669363; 19684151; 19687159; 19692203; 19699611; 19712260; 19740312; 19745201; 19757044; 19758166; 19773279; 19789190; 19796548; 19811440; 19816189; 19817957; 19865096; 19879772; 19900154; 19907017; 19913121; 19954659; 19961286; 19961892; 20003764; 20017708; 20056178; 20060272; 20061784; 20083555; 20096599; 20097272; 20137369; 20140262; 20140691; 20150558; 20169140; 20186552; 20216908; 20227257; 20227263; 20233133; 20237496; 20304021; 20306652; 20306665; 20331838; 20331879; 20339966; 20340055; 20349123; 20350254; 20374388; 20399512; 20412718; 20414054; 20416077; 20418295; 20423837; 20424918; 20441695; 20452482; 20478055; 20482998; 20485444; 20490717; 20490891; 20522205; 20525402; 20530519; 20538124; 20545903; 20558561; 20565717; 20568250; 20586818; 20617584; 20627039; 20628086; 20673868; 20689079; 20725807; 20735470; 20797704; 20818961; 20824296; 20885390; 20960175; 20964873; 20971720; 21035858; 21061265; 21118329; 21120501; 21126942; 21139048; 21145535; 21149337; 21149398; 21224476; 21225442; 21239711; 21241672; 21249128; 21264805; 21273776; 21288140; 21321938; 21323571; 21323573; 21334074; 21336086; 21356600; 21382268; 21393015; 21394384; 21395662; 21398142; 21418456; 21418867; 21421008; 21437204; 21440322; 21448661; 21464751; 21470492; 21481392; 21484426; 21487696; 21510800; 21526496; 21532063; 21538928; 21571262; 21611751; 21636628; 21656327; 21661419; 21672342; 21681500; 21710494; 21723753; 21733366; 21742406; 21742843; 21802664; 21832842; 21836143; 21836147; 21840518; 21842238; 21864160; 21867627; 21876975; 21906983; 21922295; 21943853; 21963094; 21965503; 21969001; 21988832; 22008665; 22015107; 22058412; 22125454; 22135309; 22136483; 22141572; 22149501; 22226490; 22228436; 22289535; 22307326; 22325058; 22347372; 22364914; 22373801; 22386125; 22462419; 22468101; 22484385; 22489883; 22493490; 22515481; 22518072; 22531046; 22537138; 22537218; 22587568; 22595646; 22596175; 22613414; 22639237; 22664470; 22678894; 22686311; 22723447; 22749533; 22811364; 22825306; 22837141; 22840759; 22863216; 22883217; 22900713; 22913567; 22945280; 22980562; 22996386; 23000965; 23018032; 23023653; 23027874; 23028054; 23056251; 23073298; 23075512; 23085113; 23121308; 23132931; 23137633; 23153245; 23171362; 23178856; 23207179; 23214284; 23232703; 23238919; 23242610; 23257837; 23269628; 23276493; 23298491; 23302036; 23327592; 23403235; 23419721; 23433789; 23459183; 23499732; 23522322; 23526823; 23546966; 23557801; 23587914; 23603311; 23632060; 23656272; 23675517; 23702484; 23702978; 23707237; 23723976; 23741523; 23746337; 23793845; 23794112; 23883285; 23885403; 23888552; 23901078; 23904224; 23938462; 24331389 interleukin 18 Ensembl:ENSG00000150782 HGNC:5986 HPRD:02976 MIM:600953 Vega:OTTHUMG00000167006 Other designations: IFN-gamma-inducing factor|IL-1 gamma|iboctadekin|interleukin 18 (interferon-gamma-inducing factor)|interleukin-1 gamma|interleukin-18 IL18 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene INHBB inhibin, beta B 3625 2cen-q13 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0001541 (EC: NAS, PMID: 12790766); GO_0005125 (EC: TAS, PMID: 3122219); GO_0005179 (EC: TAS, PMID: 3122219); GO_0005515 (EC: IPI, PMID: 12697670); GO_0005576 (EC: TAS, PMID: 3122219); GO_0006952 (EC: TAS, PMID: 3122219); GO_0008083 (EC: IEA); GO_0009267 (EC: ISS); GO_0009612 (EC: IDA, PMID: 10320815); GO_0030154 (EC: NAS, PMID: 10320815); GO_0032869 (EC: ISS); GO_0032924 (EC: IDA, PMID: 16650820); GO_0040007 (EC: IEA); GO_0042803 (EC: IPI, PMID: 2575216); GO_0044320 (EC: IEA); GO_0045444 (EC: ISS); GO_0046676 (EC: ISS); GO_0046789 (EC: TAS, PMID: 12456957); GO_0046881 (EC: IPI, PMID: 3122219); GO_0046882 (EC: IPI, PMID: 3122219); GO_0048178 (EC: IDA, PMID: 12419948); GO_0048471 (EC: IDA, PMID: 16650820); GO_0048599 (EC: IEA); GO_0060279 (EC: ISS); GO_2001235 (EC: IEA) PMID: 1646080; 2364091; 2575216; 2739657; 2767687; 3122219; 3345731; 3754442; 9202237; 10320815; 11134153; 11266516; 11344232; 12032389; 12414903; 12419948; 12456957; 12477932; 12493718; 12543931; 12571168; 12651901; 12697670; 12790766; 12857425; 15070953; 15196700; 15205401; 15319819; 15374731; 15489334; 15551748; 15562017; 15757857; 15851553; 15910540; 16024538; 16048795; 16195413; 16423381; 16650414; 16650820; 16670820; 16728349; 16758344; 16935389; 16989826; 17272393; 17376219; 17525068; 17628551; 17666595; 17681301; 17761145; 17914098; 17991484; 18381568; 18413775; 18423626; 18555227; 18593767; 18826955; 18927237; 19061996; 19064572; 19198021; 19539911; 19574343; 19589860; 20149358; 20200332; 20630504; 20634197; 20634891; 20713036; 20734064; 21168856; 21285453; 21475087; 21529351; 21552555; 21843890; 21938679; 21988832; 22432041; 22611157; 22747683; 23263486; 23326517; 23349064; 23423746; 23664458; 23836275; 24188875 inhibin, beta B Other designations: Inhibin, beta-2|activin AB beta polypeptide|activin beta-B chain|inhibin beta B chain INHBB Bin Zhao, Yue Liu, Oliver He C7 IFI10 INP10 IP-10 SCYB10 crg-2 gIP-10 mob-1 WEB: http://www.ncbi.nlm.nih.gov/gene CXCL10 chemokine (C-X-C motif) ligand 10 3627 4q21 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0002690 (EC: IEA); GO_0005102 (EC: TAS, PMID: 10201891); GO_0005515 (EC: IPI, PMID: 18275857); GO_0005576 (EC: IDA); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0006935 (EC: IDA, PMID: 12782716); GO_0006954 (EC: IEA); GO_0006955 (EC: IEA); GO_0007165 (EC: TAS, PMID: 10201891); GO_0007166 (EC: TAS, PMID: 10903763); GO_0007186 (EC: IMP, PMID: 12782716); GO_0007267 (EC: TAS, PMID: 3925348); GO_0007517 (EC: TAS, PMID: 8798675); GO_0008009 (EC: IDA, PMID: 12782716); GO_0008015 (EC: TAS, PMID: 8798675); GO_0008201 (EC: IMP, PMID: 18645041); GO_0008284 (EC: IEA); GO_0008603 (EC: TAS, PMID: 10903763); GO_0009306 (EC: IEA); GO_0009409 (EC: IEA); GO_0009897 (EC: IEA); GO_0010332 (EC: IEA); GO_0010818 (EC: IMP, PMID: 18645041); GO_0010996 (EC: IEA); GO_0016525 (EC: IEA); GO_0030816 (EC: IDA, PMID: 12782716); GO_0032496 (EC: IEA); GO_0033280 (EC: IEA); GO_0034605 (EC: IEA); GO_0042127 (EC: IDA, PMID: 12782716); GO_0043950 (EC: IDA, PMID: 12782716); GO_0045859 (EC: TAS, PMID: 10903763); GO_0045944 (EC: TAS, PMID: 12782716); GO_0048248 (EC: IDA, PMID: 12782716); GO_0051281 (EC: IDA, PMID: 12782716); GO_0051607 (EC: IEA); GO_0070098 (EC: IMP, PMID: 18645041) PMID: 2437586; 3925348; 7566098; 8145049; 8423327; 8798675; 9022006; 9060447; 9462486; 9705166; 10201891; 10201901; 10233762; 10903763; 10982368; 11083865; 11110785; 11390394; 11401991; 11418676; 11467655; 11559369; 11818520; 11867072; 11878903; 11897701; 12016104; 12089333; 12117914; 12117926; 12126650; 12162873; 12173928; 12189440; 12270371; 12356205; 12384933; 12393716; 12441140; 12445801; 12477932; 12539042; 12571234; 12584353; 12603854; 12663757; 12667820; 12668159; 12698106; 12718750; 12737818; 12782716; 12794718; 12819030; 12819903; 12847218; 12847282; 12856973; 12884299; 12930373; 12946268; 14507644; 14550288; 14578618; 14600836; 14630801; 14739277; 15063730; 15081247; 15081261; 15150261; 15307834; 15315758; 15489334; 15518810; 15644410; 15725351; 15745922; 15814716; 15843529; 15879427; 15880073; 15885315; 15919935; 15944327; 15988033; 16181055; 16195357; 16200621; 16210647; 16243485; 16490936; 16507178; 16581825; 16645011; 16697675; 16709871; 16733654; 16825597; 16864907; 16867276; 16920957; 16931519; 16934957; 16969644; 17018607; 17052298; 17052299; 17085967; 17211148; 17244787; 17250724; 17255201; 17360657; 17364892; 17467667; 17505511; 17541284; 17628646; 17652371; 17668902; 17763275; 17763328; 17766680; 17875534; 17912012; 17943641; 17957030; 17963704; 17996064; 18037659; 18046562; 18085351; 18234638; 18240029; 18259970; 18275857; 18281042; 18282714; 18325387; 18379127; 18415893; 18424889; 18538864; 18569454; 18645041; 18647352; 18682747; 18684849; 18702954; 18729739; 18798334; 18855195; 18973545; 18985732; 18986693; 19031697; 19065267; 19070948; 19088500; 19105984; 19134328; 19155980; 19175890; 19181310; 19187771; 19195322; 19203362; 19223260; 19258635; 19274094; 19281798; 19327225; 19342252; 19342664; 19410617; 19441886; 19447045; 19459809; 19472212; 19479051; 19506876; 19508602; 19523460; 19558503; 19565490; 19590927; 19639049; 19641142; 19694638; 19756997; 19800124; 19817957; 19821051; 19827943; 19880820; 19887486; 19901067; 19918044; 19939453; 19941336; 19969087; 20041963; 20056178; 20059481; 20137269; 20137825; 20144041; 20153790; 20164184; 20186422; 20186843; 20187787; 20299237; 20302596; 20404089; 20473322; 20485145; 20485444; 20523065; 20525556; 20592450; 20626297; 20648615; 20680966; 20833730; 20856926; 20929277; 20942936; 20943047; 20948191; 20980518; 21045270; 21054674; 21062959; 21099280; 21106778; 21167783; 21183794; 21191639; 21219680; 21254158; 21270681; 21274647; 21303425; 21303517; 21390311; 21454254; 21457060; 21475065; 21489350; 21497908; 21508508; 21531038; 21601475; 21613464; 21645215; 21649525; 21708014; 21725974; 21802343; 21811993; 21812928; 21849907; 21897004; 21906079; 21912394; 21962843; 21966356; 22004287; 22008312; 22022583; 22037980; 22038159; 22053613; 22058116; 22117591; 22136974; 22160826; 22168752; 22178859; 22192885; 22367045; 22390571; 22393386; 22401175; 22471703; 22472061; 22491449; 22496888; 22562465; 22564606; 22621182; 22634718; 22652417; 22675025; 22685032; 22697070; 22738089; 22746298; 22800603; 22809599; 22814248; 22892369; 22896023; 22905138; 22975476; 22989785; 22996399; 23011799; 23012327; 23024806; 23034049; 23056251; 23065240; 23092582; 23118425; 23118858; 23144331; 23150742; 23213058; 23265968; 23272100; 23288171; 23291247; 23291435; 23306067; 23312578; 23322900; 23333920; 23352833; 23437705; 23458521; 23505918; 23542734; 23559389; 23589576; 23600831; 23614810; 23629827; 23630573; 23684765; 23740952; 23743311; 23762283; 23873303; 23905710; 23998932; 24023775; 24025324; 24063316; 24273934; 24600982 chemokine (C-X-C motif) ligand 10 Ensembl:ENSG00000169245 HGNC:10637 HPRD:00930 MIM:147310 Vega:OTTHUMG00000160887 Other designations: 10 kDa interferon gamma-induced protein|C-X-C motif chemokine 10|gamma IP10|gamma-IP10|interferon-inducible cytokine IP-10|protein 10 from interferon (gamma)-induced cell line|small inducible cytokine subfamily B (Cys-X-Cys), member 10|small-inducible cytokine B10 CXCL10 Bin Zhao, Yue Liu, Oliver He IRR WEB: http://www.ncbi.nlm.nih.gov/gene INSRR insulin receptor-related receptor 3645 1q21-q23 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0004714 (EC: IDA); GO_0004714 (EC: NAS, PMID: 10226785); GO_0005524 (EC: IEA); GO_0005887 (EC: NAS, PMID: 10226785); GO_0007169 (EC: NAS, PMID: 10226785); GO_0018108 (EC: IDA); GO_0018108 (EC: NAS, PMID: 10226785); GO_0030238 (EC: IEA); GO_0031532 (EC: IDA); GO_0043235 (EC: IDA); GO_0043548 (EC: IEA); GO_0043560 (EC: IEA); GO_0046777 (EC: IMP); GO_0071469 (EC: IDA) PMID: 1326521; 2249481; 2768234; 7649121; 7829525; 8916919; 10226785; 10329736; 10535406; 10640820; 14654552; 15629149; 16195402; 18660489; 20734064; 21987572; 22939624; 23220417; 23824460; 24121506 insulin receptor-related receptor Ensembl:ENSG00000027644 HGNC:6093 HPRD:00976 MIM:147671 Vega:OTTHUMG00000041291 Other designations: IR-related receptor|insulin receptor-related protein INSRR Bin Zhao, Yue Liu, Oliver He BDPLT16 BDPLT2 CD41 CD41B GP2B GPIIb GT GTA HPA3 WEB: http://www.ncbi.nlm.nih.gov/gene ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 3674 17q21.32 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0002576 (EC: TAS); GO_0002687 (EC: IEA); GO_0005515 (EC: IPI, PMID: 14681217); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 2439501); GO_0005925 (EC: IEA); GO_0007155 (EC: TAS, PMID: 10429193); GO_0007160 (EC: IEA); GO_0007229 (EC: IEA); GO_0007411 (EC: TAS); GO_0007596 (EC: TAS); GO_0008305 (EC: IEA); GO_0009897 (EC: IEA); GO_0030168 (EC: TAS); GO_0030198 (EC: TAS); GO_0031092 (EC: TAS); GO_0042802 (EC: IPI, PMID: 11606749); GO_0046872 (EC: IEA); GO_0050840 (EC: IEA); GO_0070051 (EC: IEA); GO_0070527 (EC: IEA); GO_0072562 (EC: IDA) PMID: 1375923; 1429573; 1639797; 1650365; 1702098; 1737795; 1953640; 2010551; 2322558; 2345548; 2350579; 2351656; 2439501; 2444974; 2476117; 2775232; 2845986; 3422188; 3479442; 3534886; 3607284; 3801670; 7508443; 7520045; 7559457; 7688323; 7706461; 7878622; 8132607; 8282784; 8400294; 8467233; 8612741; 8620874; 8631894; 8663236; 8704171; 9030514; 9215749; 9288464; 9351824; 9473221; 9722314; 9734640; 9736129; 9763559; 9789327; 9809890; 9809974; 9920835; 10212286; 10391209; 10429193; 10605720; 10607701; 10772239; 11204574; 11238109; 11260063; 11260064; 11341496; 11359786; 11367863; 11460491; 11467947; 11487023; 11575217; 11583324; 11606749; 11698306; 11719362; 11728949; 11776052; 11798398; 11812775; 11858493; 11918133; 11964172; 11994301; 12023286; 12031826; 12038797; 12042322; 12049640; 12071877; 12083483; 12140290; 12181054; 12200372; 12297512; 12388784; 12393463; 12399140; 12408998; 12411794; 12424194; 12426312; 12446192; 12477932; 12506038; 12511588; 12586134; 12609844; 12637342; 12668663; 12719784; 12724616; 12730600; 12736272; 12799374; 12827240; 12860973; 12871362; 12871379; 12871468; 12871600; 12911597; 12938014; 14521607; 14525764; 14597981; 14671618; 14675395; 14681217; 14985176; 15056669; 15067009; 15075326; 15099289; 15121870; 15131115; 15134555; 15166241; 15205468; 15219201; 15226180; 15227729; 15316595; 15355503; 15379538; 15630502; 15634267; 15678278; 15701653; 15701721; 15730528; 15748238; 15842360; 15847651; 15863506; 15886807; 15890274; 15917997; 15976180; 15978110; 16005629; 16051597; 16102042; 16115959; 16228296; 16248996; 16322781; 16324093; 16335952; 16357324; 16359515; 16469512; 16487966; 16546176; 16573563; 16581250; 16582881; 16636497; 16716076; 16773503; 16806233; 16822941; 16825200; 16877710; 16879215; 16879224; 16895913; 16905953; 16923192; 16933105; 17018384; 17032655; 17138951; 17160992; 17192395; 17320454; 17332246; 17337041; 17346829; 17414216; 17468108; 17488698; 17495265; 17538005; 17561290; 17615290; 17630485; 17635696; 17644514; 17714854; 17721619; 17728329; 17763154; 17767046; 17872456; 17922435; 17954176; 18041653; 18057877; 18064323; 18088350; 18174155; 18201749; 18211801; 18237139; 18316480; 18316775; 18317590; 18328539; 18331836; 18334487; 18383324; 18396070; 18399841; 18405917; 18433460; 18502778; 18573917; 18638089; 18641368; 18646302; 18791937; 18796633; 18826388; 18976939; 18979362; 18979363; 18989530; 18990338; 19082798; 19117493; 19132198; 19170775; 19172520; 19232685; 19262211; 19279667; 19286442; 19329429; 19527732; 19562259; 19570064; 19691478; 19702628; 19729601; 19734576; 19765213; 19778317; 19804783; 19805198; 19863457; 19884334; 19888429; 19903699; 19913121; 19948007; 19996122; 20002543; 20020534; 20075254; 20149160; 20153702; 20158572; 20230421; 20308600; 20363746; 20486118; 20514618; 20584077; 20615878; 20628086; 20652946; 20667040; 20723174; 20819594; 20828133; 21029361; 21071690; 21156831; 21190668; 21388953; 21454453; 21487445; 21529934; 21645497; 21832081; 21917754; 21966982; 22015616; 22015659; 22078565; 22102273; 22136613; 22139419; 22190468; 22268729; 22268819; 22308022; 22448399; 22456341; 22457811; 22461623; 22484027; 22513797; 22531012; 22613710; 22730538; 22738334; 22855295; 22880801; 22952660; 23022222; 23082158; 23197154; 23216754; 23243278; 23305224; 23358226; 23382103; 23412353; 23494007; 23519467; 23571313; 23580774; 23750933; 23929305; 24030382; 24096143; 24136164; 24176823; 24338009 integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) Ensembl:ENSG00000005961 HGNC:6138 HPRD:06377 MIM:607759 Vega:OTTHUMG00000177935 Other designations: GPalpha IIb|integrin alpha-IIb|platelet fibrinogen receptor, alpha subunit|platelet membrane glycoprotein IIb|platelet-specific antigen BAK ITGA2B Bin Zhao, Yue Liu, Oliver He CD49e FNRA VLA5A WEB: http://www.ncbi.nlm.nih.gov/gene ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 3678 12q11-q13 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0001525 (EC: TAS, PMID: 19267251); GO_0001726 (EC: TAS, PMID: 11919189); GO_0005154 (EC: IEA); GO_0005161 (EC: TAS, PMID: 19267251); GO_0005178 (EC: IEA); GO_0005515 (EC: IPI, PMID: 14970227); GO_0005737 (EC: IEA); GO_0005886 (EC: TAS); GO_0005911 (EC: IDA, Qualifier: colocalizes_with, PMID: 14970227); GO_0005925 (EC: IDA, Qualifier: colocalizes_with, PMID: 14970227); GO_0007044 (EC: IEA); GO_0007155 (EC: TAS, PMID: 2454952); GO_0007157 (EC: IEA); GO_0007159 (EC: IEA); GO_0007229 (EC: IEA); GO_0007411 (EC: TAS); GO_0007596 (EC: TAS); GO_0007613 (EC: IEA); GO_0008305 (EC: IEA); GO_0009897 (EC: IEA); GO_0010811 (EC: IEA); GO_0016032 (EC: IEA); GO_0030198 (EC: TAS); GO_0030335 (EC: IEA); GO_0030949 (EC: TAS, PMID: 19267251); GO_0032587 (EC: IDA, Qualifier: colocalizes_with, PMID: 14970227); GO_0033631 (EC: IEA); GO_0035313 (EC: IEP, PMID: 14970227); GO_0043184 (EC: TAS, PMID: 19267251); GO_0045202 (EC: IEA); GO_0046872 (EC: IEA); GO_0050731 (EC: IMP, PMID: 10022831); GO_0050839 (EC: IEA); GO_0050900 (EC: TAS); GO_0071062 (EC: TAS, PMID: 19267251); GO_2000811 (EC: IMP, PMID: 15006356) PMID: 1532572; 1690718; 1693624; 1693626; 1694173; 1834647; 2202737; 2450560; 2454952; 2846588; 2944883; 2958481; 3033641; 3546305; 7504269; 7532190; 7539135; 7542116; 7592829; 7690138; 7861330; 8034133; 8387021; 8537347; 8538749; 8562338; 8599839; 8658014; 8757349; 8980606; 9211865; 9223324; 9238676; 9314546; 9361020; 9509387; 9789327; 9790314; 9809676; 9864377; 9916748; 10022831; 10065872; 10072872; 10082751; 10091938; 10094488; 10397733; 10626908; 10673366; 10713718; 10848623; 10871287; 10888683; 10982404; 11149921; 11158588; 11462216; 11479315; 11555674; 11741954; 11801679; 11852236; 11877275; 11877390; 11893752; 11919189; 11937138; 12042322; 12067900; 12081894; 12115183; 12138201; 12174366; 12196561; 12220988; 12359771; 12477932; 12486108; 12595495; 12639965; 12682293; 12799374; 12807887; 12865438; 12868002; 12871973; 12883474; 12970173; 14596610; 14610084; 14684825; 14970227; 14998999; 15006356; 15028619; 15051489; 15090462; 15100006; 15187087; 15331608; 15389531; 15489334; 15500293; 15509657; 15684035; 15699160; 15728256; 15737747; 15757908; 15781448; 15881415; 15983209; 15987366; 16005200; 16051604; 16341674; 16344560; 16430945; 16457822; 16547007; 16569642; 16756721; 16818733; 16920931; 16940508; 16959765; 17012251; 17027088; 17133443; 17286276; 17300927; 17359518; 17406357; 17472576; 17482311; 17490870; 17498594; 17596295; 17624082; 17664256; 17664272; 18029348; 18186923; 18243286; 18328539; 18445685; 18452157; 18464290; 18583538; 18590706; 18611961; 18613064; 18676743; 18687805; 18707587; 18775869; 18845630; 18992284; 19036703; 19179533; 19267251; 19276077; 19297531; 19404550; 19416892; 19443705; 19454674; 19460753; 19478484; 19497979; 19502598; 19564406; 19579970; 19617714; 19706683; 19710103; 19738201; 19747169; 19822142; 19843692; 19847290; 19850743; 19887442; 19950288; 20052536; 20097172; 20118200; 20133364; 20172014; 20332114; 20332668; 20339539; 20352103; 20379614; 20471683; 20514406; 20522645; 20528248; 20564209; 20565758; 20643357; 20686611; 20713621; 21119363; 21119598; 21139048; 21170718; 21178109; 21210968; 21224397; 21337395; 21343398; 21344385; 21352421; 21374738; 21429937; 21521694; 21592318; 21747167; 21762625; 21787362; 21880737; 21906983; 21913024; 21933023; 21947080; 21951552; 21963094; 21988832; 22095620; 22114305; 22158781; 22171266; 22227038; 22241990; 22268729; 22287577; 22361176; 22451694; 22461623; 22562249; 22581054; 22629380; 22644786; 22692860; 22723286; 22735632; 22773839; 22865233; 22939629; 22940691; 22976495; 23007402; 23233531; 23373994; 23389628; 23416109; 23499550; 23640047; 23640055; 23664187; 23686445; 23765377; 23886203; 24085800; 24109241; 24176823 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) Ensembl:ENSG00000161638 HGNC:6141 HPRD:00627 MIM:135620 Vega:OTTHUMG00000169841 Other designations: CD49 antigen-like family member E|VLA-5|fibronectin receptor subunit alpha|fibronectin receptor, alpha subunit|integrin alpha-5|integrin alpha-F|very late activation protein 5, alpha subunit ITGA5 Bin Zhao, Yue Liu, Oliver He CD11A LFA-1 LFA1A WEB: http://www.ncbi.nlm.nih.gov/gene ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 3683 16p11.2 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0001772 (EC: IEA); GO_0002291 (EC: IMP, PMID: 2477710); GO_0005515 (EC: IPI, PMID: 11544294); GO_0005886 (EC: TAS); GO_0006928 (EC: TAS, PMID: 10477596); GO_0006954 (EC: NAS, PMID: 8103515); GO_0007155 (EC: NAS, PMID: 8103515); GO_0007157 (EC: IMP, PMID: 2477710); GO_0007159 (EC: IMP, PMID: 2477710); GO_0007165 (EC: NAS, PMID: 8103515); GO_0007229 (EC: IEA); GO_0007596 (EC: TAS); GO_0008305 (EC: NAS, PMID: 8103515); GO_0009897 (EC: IEA); GO_0022409 (EC: IEA); GO_0030198 (EC: TAS); GO_0032403 (EC: IEA); GO_0042102 (EC: IEA); GO_0046872 (EC: IEA); GO_0046982 (EC: IEA); GO_0050776 (EC: TAS); GO_0050798 (EC: IEA); GO_0050839 (EC: IPI, PMID: 1448173); GO_0050850 (EC: IEA); GO_0050900 (EC: TAS); GO_0070062 (EC: IDA) PMID: 1448173; 1702722; 1757107; 1762294; 1967280; 2477710; 2537322; 2543075; 2894392; 3284962; 3301632; 7479767; 7542116; 7576051; 7691868; 7904170; 7917519; 8086129; 8097887; 8099450; 8103515; 8450224; 8805579; 8995416; 9263011; 9341793; 9442085; 9676575; 9743356; 9789327; 10477596; 10493829; 10493852; 10602019; 11279101; 11353828; 11544294; 11786177; 11792712; 11812992; 11857637; 11867690; 11882033; 11929876; 11953106; 12020947; 12036881; 12117984; 12139949; 12163056; 12163503; 12171996; 12202941; 12207338; 12368450; 12392323; 12477932; 12516552; 12526797; 12616499; 12694184; 12815062; 12845325; 12847234; 12855590; 14676297; 14688105; 14695458; 14722085; 15113754; 15183063; 15208262; 15222882; 15240749; 15308572; 15356110; 15611342; 15622747; 15693793; 15728350; 15730520; 15834409; 15851656; 15946252; 15958383; 15983060; 16002691; 16037628; 16038038; 16100282; 16207819; 16249234; 16301335; 16472601; 16492228; 16505487; 16622014; 16705652; 16855029; 16918410; 16920795; 16963559; 17038526; 17045822; 17078873; 17430469; 17468108; 17486117; 17591777; 17673459; 17785425; 17913807; 18079697; 18156711; 18195072; 18199751; 18264102; 18339898; 18922916; 19029120; 19050286; 19135988; 19211748; 19268609; 19502238; 19641037; 19721069; 19913121; 20338181; 20403997; 20445017; 20511548; 20516718; 20574620; 20628086; 20681010; 20890395; 20953905; 21152086; 21192791; 21206905; 21270395; 21284901; 21454358; 21540444; 21541792; 21576384; 21597477; 21669874; 21705617; 21850260; 21890473; 22190034; 22206678; 22384114; 22411821; 22467872; 22908191; 23128233; 23160181; 23188505; 23398146; 23418509; 23514737; 23726040; 23981064 integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) Ensembl:ENSG00000005844 HGNC:6148 HPRD:01079 MIM:153370 Vega:OTTHUMG00000176964 Other designations: CD11 antigen-like family member A|LFA-1 alpha|LFA-1A|antigen CD11A (p180), lymphocyte function-associated antigen 1, alpha polypeptide|integrin alpha-L|integrin gene promoter|leukocyte adhesion glycoprotein LFA-1 alpha chain|leukocyte function-associated molecule 1 alpha chain|lymphocyte function-associated antigen 1 ITGAL Bin Zhao, Yue Liu, Oliver He CD11B CR3A MAC-1 MAC1A MO1A SLEB6 WEB: http://www.ncbi.nlm.nih.gov/gene ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) 3684 16p11.2 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0001846 (EC: IEA); GO_0001948 (EC: IPI, PMID: 15004192); GO_0002224 (EC: TAS); GO_0005515 (EC: IPI, PMID: 15194813); GO_0005634 (EC: IEA); GO_0005886 (EC: TAS); GO_0007155 (EC: TAS, PMID: 2563162); GO_0007159 (EC: IEA); GO_0007229 (EC: IEA); GO_0007596 (EC: TAS); GO_0008201 (EC: IEA); GO_0008305 (EC: IEA); GO_0009897 (EC: IEA); GO_0014005 (EC: IEA); GO_0030198 (EC: TAS); GO_0030593 (EC: IEA); GO_0034142 (EC: TAS); GO_0043395 (EC: IEA); GO_0045087 (EC: TAS); GO_0045123 (EC: IEA); GO_0046872 (EC: IEA); GO_0046982 (EC: IEA); GO_0050798 (EC: IEA); GO_0050900 (EC: TAS) PMID: 1346576; 1683702; 1967280; 2454931; 2457584; 2563162; 2833753; 3284962; 3539202; 4062888; 7867070; 8419480; 8458080; 8573344; 8747460; 9142045; 9175709; 9211902; 9488691; 9558116; 9560195; 9569238; 9687375; 9712878; 9844058; 10352278; 10744708; 10748078; 10846180; 10899906; 10946284; 11073102; 11701612; 11843895; 11881155; 11893077; 11937770; 11941318; 11953106; 11967116; 12009501; 12036876; 12042322; 12107753; 12145463; 12165526; 12208882; 12234260; 12244179; 12377763; 12377937; 12390020; 12393547; 12393719; 12444150; 12466503; 12477932; 12485936; 12495676; 12516552; 12576754; 12600815; 12665127; 12682255; 12694184; 12731070; 12760968; 12816955; 12847278; 12960243; 14532278; 14751053; 14769799; 15004192; 15073035; 15194813; 15217824; 15277376; 15294914; 15304494; 15454120; 15485828; 15489334; 15585684; 15615722; 15641787; 15718918; 15730520; 15741160; 15778383; 15976367; 16037628; 16239529; 16246332; 16249234; 16260637; 16357311; 16389569; 16508260; 16614246; 16782049; 16915040; 17172930; 17202372; 17202407; 17228360; 17346796; 17372166; 17445870; 17721605; 17927697; 17957461; 18029348; 18065787; 18096476; 18156711; 18164590; 18204098; 18204446; 18204448; 18375764; 18414903; 18495781; 18496641; 18509085; 18541300; 18617697; 18644795; 18676132; 18678668; 18684982; 18685529; 18714035; 18762778; 18842294; 18941116; 19052753; 19073595; 19086264; 19110536; 19129174; 19135988; 19165918; 19246218; 19250688; 19286673; 19387459; 19480860; 19546439; 19550115; 19572148; 19578722; 19587009; 19747912; 19748962; 19800635; 19811837; 19833726; 19863185; 19913121; 19939855; 20185670; 20190138; 20228269; 20423844; 20483667; 20580686; 20628086; 20629846; 20665668; 20666624; 20706761; 20800911; 20824631; 20826754; 20848568; 20881011; 20962850; 21068098; 21135163; 21151989; 21252155; 21263017; 21273385; 21362770; 21403131; 21408207; 21454473; 21551251; 21571730; 21610569; 21676865; 21840425; 21874872; 22017400; 22052909; 22053606; 22095715; 22145905; 22229891; 22251373; 22552879; 22586164; 22722613; 22893614; 23092917; 23184931; 23269830; 23273568; 23334594; 23398146; 23451151; 23452299; 23469114; 23479224; 23514737; 23573259; 23671673; 23727038; 23740937; 23753600; 23754403; 23812215; 23880611; 23918739; 23981064 integrin, alpha M (complement component 3 receptor 3 subunit) Ensembl:ENSG00000169896 HGNC:6149 HPRD:00411 MIM:120980 Vega:OTTHUMG00000176612 Other designations: CD11 antigen-like family member B|CR-3 alpha chain|antigen CD11b (p170)|cell surface glycoprotein MAC-1 subunit alpha|integrin alpha-M|leukocyte adhesion receptor MO1|macrophage antigen alpha polypeptide|neutrophil adherence receptor alpha-M subunit ITGAM Bin Zhao, Yue Liu, Oliver He CD11C SLEB6 WEB: http://www.ncbi.nlm.nih.gov/gene ITGAX integrin, alpha X (complement component 3 receptor 4 subunit) 3687 16p11.2 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0004872 (EC: TAS, PMID: 2303426); GO_0005515 (EC: IPI, PMID: 17726152); GO_0005886 (EC: TAS); GO_0007155 (EC: IEA); GO_0007229 (EC: IEA); GO_0007596 (EC: TAS); GO_0008305 (EC: IEA); GO_0009887 (EC: TAS, PMID: 3327687); GO_0009897 (EC: IEA); GO_0030198 (EC: TAS); GO_0046872 (EC: IEA); GO_0050900 (EC: TAS); GO_0051607 (EC: IEA) PMID: 1967280; 1976870; 2303426; 3284962; 3327687; 3549901; 4062888; 7512600; 7621072; 8045597; 8573344; 8598231; 8645576; 9176697; 9250811; 9473377; 9598326; 9885225; 11174197; 11369639; 11460493; 11799095; 11840270; 11845978; 11937543; 12083416; 12100475; 12208882; 12351396; 12477932; 12576324; 14702039; 15489334; 15665082; 15730520; 15900581; 16037628; 16344560; 16716806; 17045822; 17726152; 17726260; 18047418; 18204098; 18386786; 18541300; 18580071; 19129174; 19237023; 19257981; 19800635; 19910635; 20032971; 20033057; 20382884; 20479115; 20574620; 20610651; 20660331; 20679211; 20888334; 20962850; 21030716; 21239711; 21257965; 21273385; 21362770; 21666055; 21874872; 22017400; 22244783; 22393018; 22539788; 22808111; 22844116; 23118428; 23246582; 24124148; 24129562 integrin, alpha X (complement component 3 receptor 4 subunit) Ensembl:ENSG00000140678 HGNC:6152 HPRD:01051 MIM:151510 Vega:OTTHUMG00000132465 Other designations: CD11 antigen-like family member C|integrin alpha-X|integrin, alpha X (antigen CD11C (p150), alpha polypeptide)|leu M5, alpha subunit|leukocyte adhesion glycoprotein p150,95 alpha chain|leukocyte adhesion receptor p150,95|leukocyte surface antigen p150,95, alpha subunit|myeloid membrane antigen, alpha subunit|p150 95 integrin alpha chain ITGAX Bin Zhao, Yue Liu, Oliver He CD104 WEB: http://www.ncbi.nlm.nih.gov/gene ITGB4 integrin, beta 4 3691 17q25 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0004872 (EC: IEA); GO_0005515 (EC: IPI, PMID: 11375975); GO_0005604 (EC: IEA); GO_0005886 (EC: IDA); GO_0005886 (EC: TAS); GO_0007155 (EC: NAS, PMID: 2311577); GO_0007160 (EC: IEA); GO_0007229 (EC: IEA); GO_0007275 (EC: IEA); GO_0008305 (EC: IEA); GO_0009611 (EC: IDA, PMID: 19403692); GO_0009925 (EC: IEA); GO_0009986 (EC: IDA); GO_0030056 (EC: IDA, PMID: 12482924); GO_0030198 (EC: TAS); GO_0031252 (EC: IDA, PMID: 19403692); GO_0031581 (EC: IDA, PMID: 12482924); GO_0031581 (EC: TAS); GO_0034329 (EC: TAS); GO_0043235 (EC: IDA); GO_0046847 (EC: IEA); GO_0048870 (EC: IMP, PMID: 19403692); GO_0070062 (EC: IDA, PMID: 19199708) PMID: 1693624; 1976638; 2070796; 2138612; 2311577; 2311578; 2542022; 2649503; 7545057; 7556090; 7982032; 8444901; 9166594; 9171350; 9194858; 9207246; 9344615; 9374518; 9422533; 9428518; 9500991; 9546354; 9660880; 9792864; 9837976; 9892956; 10428948; 10477766; 10484780; 10504457; 10637308; 10671376; 10711425; 10727209; 10792571; 10811835; 10873890; 11044453; 11251584; 11289717; 11320086; 11328943; 11375975; 11389095; 11684709; 11733063; 11809527; 11848444; 11884516; 11886501; 12023052; 12105188; 12107410; 12110680; 12119179; 12167101; 12168086; 12397374; 12429829; 12441134; 12477932; 12482924; 12485428; 12499048; 12694355; 12802069; 12865436; 12919677; 14512419; 14517202; 14602071; 14668477; 15009117; 15121854; 15161909; 15194479; 15302884; 15304080; 15367640; 15381079; 15387376; 15542431; 15579904; 15611341; 15707651; 15817481; 15951569; 16007143; 16258729; 16335952; 16436605; 16537545; 16581764; 16707493; 16713569; 16740748; 16757171; 16870608; 16878156; 16914518; 16964243; 16965770; 17314405; 17515951; 17711859; 17964297; 18224668; 18270579; 18281537; 18299254; 18348258; 18550570; 18729074; 18814027; 18824633; 18940803; 18955862; 18959757; 18971471; 18974120; 19005215; 19061949; 19074885; 19087978; 19094228; 19124484; 19138983; 19151752; 19199708; 19242489; 19403692; 19567674; 19586553; 19597468; 19670701; 19710103; 19913121; 19923172; 20301304; 20301336; 20301481; 20301543; 20307589; 20364299; 20509141; 20510671; 20512931; 20603614; 20628086; 20695903; 20705595; 20729552; 20855525; 20936779; 20937830; 20955205; 21098729; 21139048; 21388972; 21769085; 21906983; 21963679; 21969027; 21987572; 22049212; 22304920; 22308039; 22493440; 22496621; 22545078; 22673183; 22865863; 22917688; 22939629; 23013259; 23212923; 23348745; 23496044; 23499737; 23617461; 23884246 integrin, beta 4 Ensembl:ENSG00000132470 HGNC:6158 HPRD:00946 MIM:147557 Vega:OTTHUMG00000179814 Other designations: CD104 antigen|GP150|integrin beta-4|integrin beta-4 subunit ITGB4 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene ITGB5 integrin, beta 5 3693 3q21.2 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0002474 (EC: TAS); GO_0002479 (EC: TAS); GO_0004872 (EC: IEA); GO_0005178 (EC: IEA); GO_0005515 (EC: IPI, PMID: 1694173); GO_0005886 (EC: TAS); GO_0005925 (EC: IEA); GO_0006936 (EC: TAS); GO_0007155 (EC: IEA); GO_0007229 (EC: IEA); GO_0007275 (EC: IEA); GO_0008305 (EC: IEA); GO_0030198 (EC: TAS); GO_0031252 (EC: IEA); GO_0042590 (EC: TAS); GO_0043235 (EC: IDA); GO_0045335 (EC: TAS) PMID: 1694173; 1918165; 2211615; 2328726; 2371275; 7592829; 7682219; 7689573; 8757599; 8886177; 9442085; 9443892; 9531507; 10438928; 10537314; 10579726; 10995448; 11146654; 11162558; 11278329; 11287419; 11331301; 11435317; 11462216; 11877043; 11927607; 11934885; 12270930; 12356872; 12358597; 12459484; 12477932; 12606711; 12769841; 14627618; 14702039; 14741360; 15123239; 15156152; 15174051; 15456946; 15489334; 15604093; 15673687; 15866865; 15979906; 16005200; 16355270; 16385340; 16614246; 16672769; 16675963; 16878156; 17074516; 17170699; 17963729; 18162078; 18445685; 18550570; 18590706; 18648521; 18844213; 19255147; 19267182; 19502044; 19695571; 19811096; 19910644; 19913121; 20026907; 20237496; 20400979; 20404485; 20431064; 20507994; 20615244; 20626753; 20628086; 20719960; 21098231; 21344378; 21906983; 21963094; 21978494; 21988832; 22470492; 22503669; 22547695; 22561002; 22566688; 22623531; 22659470; 22692860; 22824793; 22879933; 23000965; 23028753; 23227240; 23261238; 23269786; 23462327; 23874483; 23984888 integrin, beta 5 Other designations: integrin beta-5 ITGB5 Bin Zhao, Yue Liu, Oliver He AP-1 AP1 c-Jun WEB: http://www.ncbi.nlm.nih.gov/gene JUN jun proto-oncogene 3725 1p32-p31 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0000228 (EC: TAS, PMID: 10918580); GO_0000980 (EC: IDA, PMID: 19861239); GO_0001077 (EC: IEA); GO_0001102 (EC: IPI, PMID: 19861239); GO_0001190 (EC: IC, PMID: 19861239); GO_0001525 (EC: IEA); GO_0001774 (EC: IEA); GO_0001836 (EC: IEA); GO_0001889 (EC: IEA); GO_0001938 (EC: IEA); GO_0002224 (EC: TAS); GO_0002755 (EC: TAS); GO_0002756 (EC: TAS); GO_0003151 (EC: IEA); GO_0003677 (EC: TAS, PMID: 2825349); GO_0003690 (EC: IEA); GO_0003700 (EC: IDA, PMID: 9732876); GO_0003705 (EC: IC, PMID: 19861239); GO_0003705 (EC: IDA, PMID: 2833704); GO_0003713 (EC: IDA, PMID: 2833704); GO_0005100 (EC: IDA, PMID: 11804590); GO_0005515 (EC: IPI, PMID: 10327051); GO_0005654 (EC: TAS); GO_0005667 (EC: IEA); GO_0005719 (EC: IDA, PMID: 19861239); GO_0005829 (EC: IEA); GO_0007179 (EC: IDA, PMID: 9732876); GO_0007184 (EC: IDA, PMID: 9732876); GO_0007568 (EC: IEA); GO_0007612 (EC: IEA); GO_0007623 (EC: IEA); GO_0008134 (EC: IPI, PMID: 16007074); GO_0008285 (EC: IEA); GO_0009314 (EC: IEA); GO_0009612 (EC: IEA); GO_0017053 (EC: IEA); GO_0030224 (EC: IEA); GO_0031103 (EC: IEA); GO_0031953 (EC: IEA); GO_0032321 (EC: IDA, PMID: 11804590); GO_0032496 (EC: IEA); GO_0034097 (EC: IEA); GO_0034134 (EC: TAS); GO_0034138 (EC: TAS); GO_0034142 (EC: TAS); GO_0034146 (EC: TAS); GO_0034162 (EC: TAS); GO_0034166 (EC: TAS); GO_0035026 (EC: IEA); GO_0035497 (EC: IDA, PMID: 19861239); GO_0035666 (EC: TAS); GO_0038095 (EC: TAS); GO_0038123 (EC: TAS); GO_0038124 (EC: TAS); GO_0042493 (EC: IEA); GO_0042542 (EC: IEA); GO_0043392 (EC: IDA, PMID: 14645924); GO_0043524 (EC: IEA); GO_0043525 (EC: IEA); GO_0043922 (EC: IDA, PMID: 2833704); GO_0043923 (EC: IDA, PMID: 2833704); GO_0044212 (EC: IDA, PMID: 14645924); GO_0044822 (EC: IDA); GO_0045087 (EC: TAS); GO_0045657 (EC: IEA); GO_0045740 (EC: IEA); GO_0045892 (EC: IDA, PMID: 2833704); GO_0045893 (EC: IDA, PMID: 2833704); GO_0045944 (EC: IC, PMID: 19861239); GO_0045944 (EC: IDA, PMID: 2833704); GO_0048146 (EC: IEA); GO_0048661 (EC: IEA); GO_0051090 (EC: TAS); GO_0051365 (EC: IEA); GO_0051403 (EC: TAS); GO_0051591 (EC: IEA); GO_0051726 (EC: IEA); GO_0051899 (EC: IEA); GO_0060395 (EC: IDA, PMID: 9732876); GO_0070412 (EC: IPI, PMID: 9732876); GO_0071277 (EC: IEA); GO_0071837 (EC: IEA) PMID: 1310896; 1448082; 1516134; 1631061; 1651323; 1827203; 1922387; 2138276; 2320002; 2825349; 2833704; 3194415; 7623830; 7642615; 7662174; 7666555; 7690421; 7738014; 7816143; 7823959; 7848298; 7957556; 8001819; 8027667; 8087846; 8108109; 8137421; 8224842; 8302594; 8380166; 8387155; 8397339; 8440710; 8464713; 8480425; 8557686; 8570175; 8586671; 8617242; 8621542; 8621941; 8622660; 8628277; 8649793; 8654373; 8662824; 8663380; 8663478; 8733011; 8763994; 8798722; 8816797; 8816798; 8837781; 8846788; 8945519; 8974016; 8985011; 9020136; 9030721; 9129988; 9154808; 9155018; 9160889; 9207092; 9211894; 9223324; 9235954; 9334186; 9346889; 9374537; 9405416; 9443941; 9445037; 9468519; 9488446; 9510247; 9545246; 9566900; 9575168; 9621077; 9628874; 9642216; 9659924; 9670954; 9671405; 9681824; 9685505; 9692890; 9732876; 9774977; 9786917; 9808624; 9837938; 9872330; 9973222; 10026157; 10027715; 10188588; 10196196; 10207054; 10220381; 10327051; 10330159; 10346818; 10357819; 10388555; 10393177; 10419510; 10421840; 10428834; 10478848; 10488148; 10490605; 10490649; 10497212; 10506225; 10509564; 10523647; 10567391; 10567404; 10581001; 10620019; 10637231; 10644332; 10747973; 10766246; 10777532; 10788439; 10799874; 10847592; 10878360; 10903323; 10903862; 10913197; 10918580; 10962563; 10973489; 11022789; 11053448; 11090181; 11108663; 11254713; 11260070; 11274169; 11278277; 11278395; 11278640; 11278891; 11287617; 11306568; 11316804; 11331419; 11331585; 11371641; 11397794; 11431474; 11432833; 11448159; 11477071; 11479302; 11551904; 11641401; 11689449; 11704680; 11708771; 11738026; 11739718; 11801649; 11804590; 11823437; 11867732; 11877416; 11891228; 11891317; 11903046; 11909859; 11912197; 11914583; 11948398; 11956220; 11980644; 11983170; 12034730; 12052834; 12052862; 12077347; 12080089; 12087103; 12089333; 12091339; 12119282; 12145210; 12165517; 12167088; 12183893; 12185592; 12186939; 12228228; 12324474; 12419228; 12419805; 12437352; 12441106; 12446585; 12477932; 12485413; 12547826; 12554755; 12592382; 12600818; 12615916; 12618758; 12628923; 12676957; 12682910; 12692226; 12697749; 12700665; 12775419; 12788955; 12796506; 12798298; 12799614; 12805554; 12815619; 12853483; 12875982; 12909593; 12949493; 12954631; 12963547; 12963725; 12963995; 13130464; 14500675; 14506227; 14511403; 14517282; 14522952; 14530285; 14532268; 14572659; 14612408; 14630807; 14633987; 14638681; 14645224; 14645924; 14652666; 14654548; 14667575; 14675752; 14701799; 14701856; 14739464; 14973137; 15001576; 15034932; 15044437; 15087451; 15158360; 15175153; 15191540; 15226448; 15240010; 15249231; 15258149; 15262961; 15271374; 15276183; 15299005; 15302867; 15302935; 15314183; 15314185; 15319445; 15333603; 15334056; 15351693; 15378002; 15383523; 15385474; 15469925; 15480426; 15489334; 15507668; 15514030; 15528994; 15530430; 15544846; 15546613; 15550679; 15579469; 15586248; 15590691; 15626733; 15642950; 15654976; 15674337; 15677475; 15688015; 15696159; 15701643; 15702969; 15706351; 15708845; 15718494; 15746191; 15749833; 15806162; 15840658; 15863510; 15867431; 15870692; 15894171; 15897893; 15922298; 15923621; 15923644; 15936718; 15941782; 15944151; 15958389; 15991283; 15994313; 15994960; 16001969; 16007074; 16007099; 16023595; 16023596; 16045761; 16049073; 16055710; 16123044; 16140218; 16157600; 16158054; 16166642; 16179804; 16199533; 16223572; 16236267; 16243842; 16253992; 16266514; 16285957; 16289409; 16291755; 16303762; 16328781; 16341687; 16343055; 16361535; 16380075; 16410250; 16434970; 16478997; 16511568; 16533805; 16549498; 16569633; 16569638; 16571680; 16582099; 16586042; 16611996; 16620772; 16676006; 16690925; 16702224; 16710414; 16714286; 16740711; 16786139; 16824735; 16844113; 16880509; 16887814; 16895791; 16901904; 16905771; 16911523; 16916642; 16928756; 16928824; 16951171; 16980310; 16980615; 16983342; 17009014; 17056544; 17074809; 17082780; 17085440; 17088247; 17097050; 17101801; 17110928; 17121851; 17130130; 17182846; 17189706; 17215518; 17235455; 17237388; 17237407; 17283040; 17283046; 17296604; 17314269; 17317669; 17363973; 17390236; 17401435; 17403042; 17438848; 17440114; 17466952; 17495958; 17506864; 17510314; 17538020; 17588603; 17592138; 17634427; 17636030; 17637753; 17639289; 17651785; 17652081; 17658605; 17672916; 17681951; 17702894; 17703412; 17704768; 17761353; 17804415; 17845581; 17875713; 17908424; 17914574; 17920329; 17940019; 17952113; 17968316; 17978573; 18003900; 18032824; 18062835; 18065414; 18073204; 18097055; 18165900; 18171671; 18172215; 18174157; 18180292; 18180316; 18192274; 18234454; 18239671; 18253836; 18262488; 18281687; 18302882; 18304423; 18316037; 18316603; 18322962; 18347071; 18351441; 18352974; 18384814; 18410487; 18414033; 18429822; 18435914; 18443042; 18443043; 18445313; 18448277; 18467434; 18485515; 18487146; 18494816; 18497564; 18515365; 18543249; 18570890; 18572021; 18597608; 18600430; 18617512; 18619508; 18621151; 18644981; 18646516; 18650425; 18653452; 18653705; 18664273; 18671972; 18692129; 18708361; 18716056; 18725194; 18757369; 18775869; 18805449; 18823944; 18838675; 18844221; 18845538; 18922473; 18923650; 18931081; 18936204; 18940179; 18950845; 18952102; 18957410; 18957422; 18985028; 18992165; 19015316; 19018257; 19020743; 19022561; 19028685; 19035162; 19064921; 19080373; 19105933; 19123467; 19131506; 19156129; 19164581; 19165171; 19166930; 19176525; 19193763; 19206162; 19215067; 19219074; 19231233; 19238531; 19249008; 19258923; 19270716; 19281909; 19306295; 19334540; 19343052; 19357699; 19358752; 19384981; 19433309; 19435822; 19471022; 19495976; 19499154; 19513521; 19527717; 19528235; 19531482; 19578717; 19591174; 19595408; 19616043; 19653276; 19654329; 19656241; 19701800; 19714312; 19723051; 19734233; 19734545; 19738058; 19758340; 19758438; 19782465; 19787273; 19794957; 19795388; 19806201; 19811296; 19818398; 19837979; 19841138; 19859790; 19860880; 19861239; 19874574; 19878434; 19885545; 19898747; 19910471; 19910486; 19913121; 19919900; 19921846; 19937141; 19937979; 19939924; 19944700; 19959471; 19965873; 20012528; 20042607; 20044606; 20051654; 20053993; 20074357; 20093361; 20093369; 20102411; 20133937; 20137127; 20170659; 20185758; 20193273; 20195357; 20198339; 20203690; 20222112; 20225236; 20227498; 20232342; 20304822; 20306472; 20331627; 20331972; 20331980; 20333648; 20353950; 20353996; 20371606; 20376080; 20395206; 20410304; 20430872; 20432452; 20448330; 20459032; 20479273; 20479762; 20482821; 20483790; 20503287; 20505831; 20507572; 20508969; 20510020; 20511396; 20519498; 20531301; 20543003; 20554528; 20557936; 20590529; 20607803; 20619956; 20628086; 20628624; 20665665; 20680410; 20683948; 20688351; 20697347; 20698984; 20732415; 20837772; 20852630; 20936779; 20939893; 20942798; 20943203; 20952681; 20955203; 20976196; 20977688; 21030269; 21034562; 21081043; 21081472; 21106530; 21106746; 21134350; 21139048; 21145111; 21148792; 21196933; 21212516; 21268080; 21289643; 21338584; 21349840; 21350237; 21357535; 21360282; 21364631; 21381700; 21393476; 21397653; 21410405; 21417953; 21439937; 21451046; 21454713; 21496208; 21511059; 21518489; 21526160; 21530485; 21555589; 21559334; 21565167; 21570970; 21607373; 21617575; 21617851; 21640141; 21647439; 21675959; 21685329; 21693764; 21697091; 21699750; 21703547; 21732343; 21739277; 21743958; 21745629; 21799768; 21801875; 21814482; 21822357; 21829441; 21835421; 21835891; 21860413; 21862593; 21872498; 21890473; 21895606; 21937452; 21972703; 21988832; 21989944; 22001392; 22002117; 22051934; 22077140; 22083952; 22092038; 22110360; 22119392; 22132731; 22139817; 22176144; 22189957; 22235337; 22239235; 22265050; 22266871; 22271085; 22271878; 22307329; 22327296; 22328508; 22331067; 22354960; 22384197; 22384232; 22394497; 22399296; 22417306; 22429882; 22438909; 22450687; 22484283; 22508041; 22512945; 22570239; 22597534; 22675553; 22685373; 22688014; 22719067; 22749179; 22771387; 22791811; 22797068; 22801218; 22843696; 22853846; 22860098; 22869147; 22879913; 22911824; 22926518; 22933572; 22966201; 22974165; 22981541; 22988241; 23027969; 23028371; 23041974; 23047699; 23135283; 23153494; 23163821; 23182717; 23223231; 23226410; 23236059; 23269699; 23300800; 23331079; 23339184; 23362975; 23382074; 23437118; 23454483; 23467542; 23523566; 23546882; 23562910; 23580428; 23583295; 23602568; 23608488; 23614275; 23615400; 23624934; 23625009; 23625206; 23661758; 23665382; 23669365; 23671702; 23678002; 23682787; 23686163; 23690655; 23720779; 23747343; 23749999; 23762330; 23770289; 23814048; 23818969; 23832539; 23844083; 23906792; 23929433; 23942796; 24027432; 24113186 jun proto-oncogene Ensembl:ENSG00000177606 HGNC:6204 HPRD:01302 MIM:165160 Vega:OTTHUMG00000008376 Other designations: Jun activation domain binding protein|activator protein 1|enhancer-binding protein AP1|jun oncogene|p39|proto-oncogene c-Jun|transcription factor AP-1|v-jun avian sarcoma virus 17 oncogene homolog|v-jun sarcoma virus 17 oncogene homolog JUN Bin Zhao, Yue Liu, Oliver He ISK JLNS JLNS2 LQT2/5 LQT5 MinK WEB: http://www.ncbi.nlm.nih.gov/gene KCNE1 potassium voltage-gated channel, Isk-related family, member 1 3753 21q22.12 20140408 9606 21 protein-coding Official from a nomenclature committee GO_0002070 (EC: IEA); GO_0005249 (EC: IDA, Qualifier: contributes_to, PMID: 17289006); GO_0005251 (EC: IDA, Qualifier: contributes_to, PMID: 10400998); GO_0005515 (EC: IPI, PMID: 11697903); GO_0005764 (EC: IDA, PMID: 16780588); GO_0005783 (EC: IEA); GO_0005886 (EC: IDA, PMID: 16780588); GO_0006487 (EC: IDA); GO_0006493 (EC: IDA); GO_0007605 (EC: TAS, PMID: 9020846); GO_0008076 (EC: IC, PMID: 8900283); GO_0008076 (EC: IDA, PMID: 17289006); GO_0008584 (EC: IEA); GO_0009986 (EC: IDA, PMID: 10400998); GO_0015459 (EC: IDA, PMID: 10400998); GO_0016324 (EC: IEA); GO_0030018 (EC: ISS, PMID: 11697903); GO_0031433 (EC: IPI, PMID: 11697903); GO_0046982 (EC: IEA); GO_0060047 (EC: IEA); GO_0060307 (EC: IMP, PMID: 9354802); GO_0071320 (EC: IDA, PMID: 11299204); GO_0071435 (EC: IDA, PMID: 10400998); GO_0071468 (EC: IEA); GO_0071805 (EC: IDA, PMID: 11299204); GO_0086002 (EC: IMP, PMID: 10400998); GO_0086005 (EC: IMP, PMID: 9354802); GO_0086008 (EC: IDA, Qualifier: contributes_to, PMID: 10400998); GO_0086009 (EC: IDA, PMID: 8900283); GO_0086011 (EC: IDA, PMID: 11299204); GO_0086013 (EC: IDA, PMID: 8900283); GO_0086013 (EC: IMP, PMID: 10400998); GO_0086091 (EC: IMP, PMID: 10400998); GO_0090315 (EC: IEA); GO_1901379 (EC: IDA, PMID: 10400998); GO_1901381 (EC: IDA, PMID: 8900283); GO_1902259 (EC: IDA, PMID: 10400998); GO_1902282 (EC: IMP, Qualifier: contributes_to, PMID: 9354802) PMID: 1553557; 2730656; 7622063; 7828904; 8432548; 8899564; 8900283; 9020846; 9230439; 9312006; 9328483; 9354783; 9354802; 9445165; 10400998; 10493825; 10830953; 10973849; 11101505; 11104781; 11289718; 11299204; 11692163; 11697903; 11714488; 11799244; 11874988; 11891569; 12084623; 12228786; 12477932; 12634932; 14527430; 14661677; 14702039; 14760488; 14761891; 15051636; 15176425; 15389592; 15489334; 15698834; 15746444; 15840476; 16132053; 16155735; 16266404; 16303284; 16308347; 16344560; 16374062; 16414944; 16487223; 16487842; 16563243; 16610241; 16631607; 16780588; 16818214; 16823764; 17016049; 17065152; 17141204; 17165161; 17210839; 17227789; 17275752; 17289006; 17310097; 17341399; 17384445; 17534376; 17545244; 17626898; 17646758; 17892302; 17895974; 17905336; 17980676; 18079560; 18157847; 18279388; 18398469; 18426444; 18441444; 18504315; 18611041; 18674739; 18757482; 18803136; 18931301; 18956684; 19019189; 19114714; 19131515; 19139916; 19149796; 19156197; 19202166; 19218243; 19219384; 19305408; 19305639; 19322600; 19340287; 19372218; 19521339; 19523148; 19660109; 19695459; 19716085; 19860128; 19907016; 19913121; 19940153; 20034061; 20062063; 20108749; 20117060; 20139709; 20185111; 20215044; 20298200; 20301308; 20301579; 20386770; 20400777; 20424473; 20479109; 20494980; 20553101; 20628086; 20920651; 20962273; 21063070; 21063774; 21070882; 21149716; 21212535; 21231794; 21244686; 21576493; 21676880; 21691061; 21730298; 21811988; 21854832; 22085289; 22100668; 22250012; 22471742; 22908235; 22999324; 23020083; 23129484; 23224734; 23237912; 23324056; 23359697; 23504710; 23650380; 23714088; 23874724; 24142691; 24439990 potassium voltage-gated channel, Isk-related family, member 1 Ensembl:ENSG00000180509 HGNC:6240 HPRD:01442 MIM:176261 Vega:OTTHUMG00000086236 Other designations: IKs producing slow voltage-gated potassium channel subunit beta Mink|cardiac delayed rectifier potassium channel protein|delayed rectifier potassium channel subunit IsK|minimal potassium channel|potassium voltage-gated channel subfamily E member 1|potassium voltage-gated channel, Isk-related subfamily, member 1|voltage gated potassiun channel accessory subunit KCNE1 Bin Zhao, Yue Liu, Oliver He KIR1.1 ROMK ROMK1 WEB: http://www.ncbi.nlm.nih.gov/gene KCNJ1 potassium inwardly-rectifying channel, subfamily J, member 1 3758 11q24 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0001822 (EC: IEA); GO_0001894 (EC: IEA); GO_0005242 (EC: IEA); GO_0005524 (EC: IEA); GO_0005546 (EC: IDA, PMID: 12086641); GO_0005886 (EC: TAS); GO_0006813 (EC: TAS, PMID: 9015377); GO_0007268 (EC: TAS); GO_0007588 (EC: TAS, PMID: 9015377); GO_0008076 (EC: TAS, PMID: 9015377); GO_0009791 (EC: IEA); GO_0070294 (EC: IEA); GO_0071805 (EC: TAS, PMID: 9015377); GO_0072358 (EC: IEA); GO_1900128 (EC: IEA) PMID: 7635463; 7680431; 7929082; 8190102; 8621594; 8841184; 9002665; 9015377; 9099852; 9727001; 10479680; 12086641; 12221079; 12381810; 12477932; 12589089; 12684516; 14604981; 15489334; 15895241; 15987778; 16344560; 16382105; 16428287; 16543716; 17380208; 17401586; 18211905; 18391953; 18443236; 18550644; 18755144; 19096086; 19170254; 19244242; 19272129; 19349416; 19706464; 19710010; 19913121; 20219833; 20379614; 20424473; 20628086; 21081491; 21355052; 21631963; 23211697; 23782368 potassium inwardly-rectifying channel, subfamily J, member 1 Ensembl:ENSG00000151704 HGNC:6255 HPRD:08981 MIM:600359 Vega:OTTHUMG00000048247 Other designations: ATP-regulated potassium channel ROM-K|ATP-sensitive inward rectifier potassium channel 1|inward rectifier K(+) channel Kir1.1|inwardly rectifying K+ channel|potassium channel, inwardly rectifying subfamily J member 1 KCNJ1 Bin Zhao, Yue Liu, Oliver He K2p2.1 TPKC1 TREK TREK-1 TREK1 hTREK-1c hTREK-1e WEB: http://www.ncbi.nlm.nih.gov/gene KCNK2 potassium channel, subfamily K, member 2 3776 1q41 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005249 (EC: IEA); GO_0005886 (EC: TAS); GO_0007186 (EC: IEA); GO_0007268 (EC: TAS); GO_0008076 (EC: IEA) PMID: 9003761; 9721223; 10321245; 10784345; 11256078; 11319549; 11319556; 12368289; 12477932; 12878157; 14522822; 15203218; 15685212; 15883010; 16006563; 16250016; 16344560; 16382106; 17035301; 17375039; 18288090; 18474599; 18519826; 18579071; 18579077; 18676988; 18854423; 19130888; 19621370; 19741570; 19837167; 19913121; 19948975; 20083228; 20362547; 20379614; 20628086; 20811500; 21069514; 21262820; 21822218; 21886777; 21964404; 21965685; 22563662; 22811574; 23275623; 23305490; 23804201; 23933981; 24206072 potassium channel, subfamily K, member 2 Ensembl:ENSG00000082482 HGNC:6277 MIM:603219 Vega:OTTHUMG00000037017 Other designations: K2P2.1 potassium channel|TREK-1 K(+) channel subunit|TWIK-related potassium channel 1|outward rectifying potassium channel protein TREK-1|potassium channel subfamily K member 2|potassium channel subfamily k member 2 variant 1|potassium channel subfamily k member 2 variant 2|potassium inwardly-rectifying channel, subfamily K, member 2|tandem-pore-domain potassium channel TREK-1|two pore domain potassium channel TREK-1|two pore potassium channel TPKC1|two-pore potassium channel 1 KCNK2 Bin Zhao, Yue Liu, Oliver He C-Kit CD117 PBT SCFR WEB: http://www.ncbi.nlm.nih.gov/gene KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 3815 4q12 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0000187 (EC: IDA); GO_0001541 (EC: ISS); GO_0001669 (EC: IEA); GO_0002020 (EC: IEA); GO_0002318 (EC: IEA); GO_0002320 (EC: IEA); GO_0002327 (EC: ISS); GO_0002371 (EC: ISS); GO_0002551 (EC: IDA); GO_0004713 (EC: TAS, PMID: 1717985); GO_0004714 (EC: IDA); GO_0004716 (EC: IEA); GO_0005020 (EC: IEA); GO_0005515 (EC: IPI, PMID: 10377264); GO_0005524 (EC: IEA); GO_0005615 (EC: IDA, PMID: 14625290); GO_0005886 (EC: TAS); GO_0006687 (EC: IEA); GO_0006954 (EC: ISS); GO_0007165 (EC: TAS, PMID: 9990072); GO_0007173 (EC: TAS); GO_0007283 (EC: ISS); GO_0007283 (EC: TAS, PMID: 16129412); GO_0007286 (EC: IEA); GO_0008284 (EC: IEA); GO_0008354 (EC: IEA); GO_0008360 (EC: ISS); GO_0008542 (EC: IEA); GO_0008543 (EC: TAS); GO_0008584 (EC: IEP, PMID: 17848411); GO_0009897 (EC: IEA); GO_0009898 (EC: IEA); GO_0010628 (EC: IEA); GO_0010863 (EC: TAS, PMID: 16129412); GO_0014068 (EC: TAS, PMID: 16129412); GO_0016021 (EC: IEA); GO_0018108 (EC: IDA); GO_0019221 (EC: IDA); GO_0019827 (EC: TAS); GO_0019955 (EC: IDA); GO_0023014 (EC: TAS, PMID: 9438854); GO_0030032 (EC: ISS); GO_0030097 (EC: TAS, PMID: 16129412); GO_0030217 (EC: ISS); GO_0030218 (EC: ISS); GO_0030318 (EC: ISS); GO_0030318 (EC: TAS); GO_0030335 (EC: IEA); GO_0031274 (EC: IEA); GO_0031532 (EC: IDA, PMID: 1721869); GO_0032762 (EC: IDA); GO_0035019 (EC: IEA); GO_0035162 (EC: ISS); GO_0035234 (EC: IEA); GO_0035855 (EC: ISS); GO_0038093 (EC: IDA); GO_0038095 (EC: TAS); GO_0038109 (EC: IDA, PMID: 17662946); GO_0038162 (EC: ISS); GO_0042127 (EC: TAS, PMID: 16129412); GO_0042511 (EC: IMP); GO_0042517 (EC: IMP); GO_0042523 (EC: IMP); GO_0042629 (EC: IMP); GO_0042803 (EC: IPI); GO_0043069 (EC: IEA); GO_0043303 (EC: IMP); GO_0043410 (EC: IMP); GO_0043473 (EC: ISS); GO_0043552 (EC: TAS, PMID: 16129412); GO_0045087 (EC: TAS); GO_0045747 (EC: IEA); GO_0046427 (EC: IMP); GO_0046777 (EC: IDA); GO_0046872 (EC: IEA); GO_0048011 (EC: TAS); GO_0048015 (EC: TAS); GO_0048070 (EC: IEA); GO_0048103 (EC: IEA); GO_0048170 (EC: IEA); GO_0048565 (EC: ISS); GO_0048863 (EC: ISS); GO_0050673 (EC: IEA); GO_0050910 (EC: ISS); GO_0051091 (EC: IMP); GO_0060326 (EC: IDA, PMID: 1721869); GO_0060374 (EC: ISS); GO_0060374 (EC: TAS, PMID: 16129412); GO_0070662 (EC: TAS); GO_0097067 (EC: IEA); GO_0097324 (EC: ISS); GO_0097326 (EC: ISS) PMID: 1279499; 1279971; 1370874; 1371879; 1373482; 1375232; 1376329; 1377810; 1381360; 1712644; 1715789; 1717985; 1720553; 1721869; 2448137; 2474787; 3360448; 7479840; 7505199; 7506076; 7506248; 7507133; 7509796; 7514064; 7514077; 7520444; 7523381; 7523489; 7526158; 7527392; 7536744; 7537096; 7539802; 7680037; 7684496; 7687267; 7691885; 7693453; 8527164; 8589724; 8611693; 8647802; 8680409; 8751459; 8757502; 8950973; 9027509; 9029028; 9038210; 9092574; 9108086; 9233773; 9341198; 9355737; 9438854; 9450866; 9528781; 9657776; 9697690; 9699740; 9788619; 9799234; 9827716; 9847074; 9872323; 9990072; 10022833; 10353443; 10358045; 10362788; 10377264; 10397721; 10477727; 10582339; 10679268; 10872802; 11018522; 11071635; 11074500; 11124255; 11380399; 11388751; 11505412; 11517291; 11642722; 11786393; 11805142; 11809791; 11825908; 11861291; 11919394; 12008077; 12036870; 12041664; 12063025; 12072198; 12091362; 12111653; 12134042; 12172985; 12177062; 12204004; 12374739; 12379771; 12393703; 12429808; 12444928; 12457234; 12477932; 12485499; 12511554; 12522257; 12542597; 12584564; 12592353; 12598308; 12646235; 12666065; 12711118; 12754375; 12759497; 12796027; 12824871; 12824925; 12878163; 12918066; 14625290; 14634801; 14647465; 14654075; 14657715; 14669790; 14677065; 14695343; 14707129; 14724587; 14745431; 14871970; 14981116; 14994370; 15007095; 15018431; 15033665; 15044924; 15062876; 15073597; 15073598; 15112348; 15145934; 15146197; 15154005; 15161681; 15167915; 15194144; 15217946; 15224284; 15234225; 15308671; 15315962; 15326474; 15337769; 15339674; 15363457; 15370139; 15471556; 15502806; 15507672; 15507676; 15512818; 15583854; 15617841; 15618474; 15618926; 15621809; 15623596; 15671569; 15685537; 15688149; 15725473; 15780567; 15791568; 15791570; 15795882; 15869870; 15897742; 15991300; 16015387; 16029447; 16076867; 16082245; 16129412; 16135486; 16143141; 16175573; 16188233; 16220461; 16235251; 16242000; 16271084; 16320053; 16335952; 16352739; 16357008; 16365291; 16373964; 16426921; 16445822; 16460801; 16479070; 16533529; 16551858; 16597595; 16623778; 16685437; 16697720; 16741248; 16760463; 16773696; 16780420; 16784237; 16785193; 16786129; 16830365; 16840725; 16842246; 16905672; 16928224; 17018686; 17024483; 17060458; 17072721; 17119051; 17124503; 17193822; 17289809; 17298867; 17337216; 17367465; 17372901; 17438095; 17448763; 17452978; 17487504; 17487541; 17495964; 17519280; 17525721; 17526803; 17532173; 17545544; 17546049; 17551405; 17554063; 17573850; 17595334; 17623951; 17632543; 17645464; 17658483; 17662946; 17673922; 17681176; 17691909; 17706113; 17710669; 17720713; 17726262; 17767956; 17827398; 17848411; 17850794; 17855052; 17875504; 17894554; 17904548; 17909012; 17928050; 17943970; 17949810; 17960171; 17965221; 17989000; 17993265; 18006222; 18029348; 18042065; 18066592; 18084259; 18165278; 18183595; 18187489; 18192885; 18212542; 18214972; 18239612; 18245707; 18246046; 18259950; 18265633; 18265649; 18270328; 18294292; 18312355; 18314611; 18314612; 18337018; 18350628; 18360281; 18372228; 18385756; 18390729; 18404201; 18413817; 18416137; 18424727; 18436868; 18443272; 18486988; 18488000; 18492696; 18500266; 18521081; 18521824; 18542042; 18568298; 18588518; 18592792; 18593464; 18618605; 18622894; 18632627; 18633766; 18636362; 18648854; 18697750; 18715619; 18724244; 18724245; 18729075; 18754326; 18755984; 18766958; 18766971; 18795925; 18831895; 18840707; 18931652; 18955451; 18955458; 18977345; 18980976; 18983466; 19001805; 19010635; 19018266; 19028276; 19047099; 19049823; 19088079; 19126397; 19152194; 19155737; 19158834; 19158841; 19167335; 19176031; 19176456; 19181784; 19221036; 19248967; 19265199; 19276970; 19280218; 19283847; 19291337; 19298525; 19302534; 19307738; 19309322; 19320733; 19326424; 19333543; 19343301; 19351817; 19375649; 19390946; 19411681; 19416921; 19421145; 19430803; 19435714; 19458628; 19461405; 19480722; 19496203; 19501868; 19536093; 19540337; 19574886; 19585492; 19592542; 19603346; 19614767; 19617878; 19620409; 19624312; 19636022; 19644024; 19648886; 19652583; 19652585; 19660459; 19662984; 19675092; 19675587; 19694830; 19696981; 19698218; 19718013; 19723893; 19730683; 19734423; 19737953; 19737976; 19755855; 19770581; 19779861; 19787330; 19789626; 19802003; 19811659; 19847891; 19850739; 19861442; 19862010; 19862822; 19865100; 19893034; 19900103; 19901887; 19912360; 19915299; 19915372; 19943934; 19956635; 19961019; 20001342; 20023271; 20028869; 20030644; 20039765; 20056794; 20064158; 20088873; 20099418; 20100931; 20109338; 20112369; 20119835; 20123583; 20133985; 20137753; 20139978; 20140688; 20146711; 20147452; 20177846; 20197394; 20231303; 20305341; 20378615; 20384797; 20413811; 20416162; 20425130; 20425418; 20431920; 20442311; 20470368; 20471335; 20477813; 20484085; 20553795; 20566360; 20566478; 20591500; 20594584; 20595514; 20596251; 20601678; 20606738; 20633291; 20636395; 20651373; 20651400; 20651610; 20652953; 20658364; 20658618; 20685234; 20686603; 20688482; 20716168; 20806443; 20823768; 20824047; 20833650; 20834236; 20838624; 20838788; 20847314; 20853134; 20857409; 20861712; 20861915; 20927104; 20949558; 20950418; 21030588; 21057563; 21058037; 21072993; 21076613; 21084381; 21113618; 21115932; 21119596; 21131919; 21134978; 21135090; 21157293; 21171987; 21190722; 21195420; 21262832; 21270602; 21273305; 21274753; 21320746; 21325067; 21372218; 21382095; 21387320; 21399664; 21403518; 21417999; 21427092; 21434524; 21454057; 21457934; 21461555; 21478825; 21498700; 21504297; 21523721; 21527588; 21569090; 21573494; 21577323; 21585622; 21595858; 21598306; 21605429; 21606963; 21609392; 21633298; 21640708; 21658742; 21680281; 21680547; 21689725; 21690468; 21692598; 21697888; 21715005; 21725412; 21757432; 21765473; 21787767; 21802916; 21804459; 21835435; 21836495; 21887372; 21951831; 21953054; 21971089; 21971708; 21993766; 22038222; 22042971; 22051531; 22076173; 22077630; 22083669; 22094233; 22101339; 22119814; 22135725; 22140461; 22145956; 22154054; 22160160; 22170730; 22171430; 22173128; 22173243; 22193299; 22197035; 22199321; 22213031; 22233760; 22237707; 22261446; 22264755; 22301675; 22314183; 22330882; 22338050; 22349512; 22357254; 22395498; 22423624; 22448662; 22449154; 22464346; 22469616; 22513068; 22534474; 22558483; 22559980; 22568210; 22608575; 22626674; 22670177; 22672386; 22729910; 22736149; 22751451; 22797058; 22809251; 22815156; 22825855; 22833529; 22839358; 22846208; 22866542; 22892471; 22917541; 22932406; 22937135; 22939396; 22963430; 22993368; 22995373; 23014346; 23016555; 23020152; 23037870; 23053179; 23060556; 23074272; 23075886; 23084635; 23106360; 23127495; 23138176; 23152053; 23160462; 23181448; 23190889; 23221472; 23222517; 23242216; 23246970; 23277171; 23285214; 23292839; 23363047; 23374274; 23398044; 23411580; 23456621; 23467883; 23528260; 23528861; 23570416; 23582185; 23582602; 23587226; 23587333; 23588081; 23593401; 23598963; 23599150; 23621836; 23621866; 23643069; 23664541; 23683787; 23686805; 23696920; 23696935; 23743299; 23755839; 23771924; 23775962; 23783394; 23807750; 23860532; 23887971; 23896410; 23926000; 23940219; 23972510; 24000325; 24008320; 24061512; 24091327; 24323358; 24379393; 24449920; 24458279 v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog Ensembl:ENSG00000157404 HGNC:6342 HPRD:01287 MIM:164920 Vega:OTTHUMG00000128713 Other designations: mast/stem cell growth factor receptor Kit|p145 c-kit|piebald trait protein|proto-oncogene c-Kit|proto-oncogene tyrosine-protein kinase Kit|soluble KIT variant 1|tyrosine-protein kinase Kit|v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein KIT Bin Zhao, Yue Liu, Oliver He KLKR Klk6 hK1 WEB: http://www.ncbi.nlm.nih.gov/gene KLK1 kallikrein 1 3816 19q13.3 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0004252 (EC: NAS, PMID: 7749372); GO_0005634 (EC: IDA, PMID: 19232384); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 393608; 1385301; 1684954; 1691151; 1783409; 2666327; 2686621; 2898948; 3004571; 3163150; 3635530; 3853975; 7492318; 7733886; 7749372; 7749374; 7916636; 9276160; 9368023; 9857240; 10862973; 11006094; 11016932; 11054574; 11130770; 11258672; 11727832; 11849458; 11912256; 11913965; 12372819; 12477932; 12492488; 12581867; 12670744; 12887060; 14660481; 14988406; 15086490; 15167446; 15342556; 15364809; 15489334; 15544850; 15611141; 15651049; 15662224; 15765151; 15855348; 15905889; 16129698; 16465461; 16800723; 16800724; 16957554; 17050061; 17158887; 17671125; 17699431; 17761919; 17762646; 17804733; 18182238; 18283336; 18327081; 18344018; 18359858; 18402547; 18577888; 18627303; 18689794; 18713009; 18725990; 18844446; 19056867; 19082699; 19232384; 19423540; 19558318; 19578768; 19913121; 20143645; 20225398; 20406964; 20424135; 20438785; 20482314; 20516044; 20533273; 20536386; 20613781; 20628086; 21164105; 21200088; 21211543; 21571276; 21679467; 21823154; 23635481; 23697984; 23765970; 23874198; 24005896 kallikrein 1 Ensembl:ENSG00000167748 HGNC:6357 HPRD:01003 MIM:147910 Vega:OTTHUMG00000182876 Other designations: glandular kallikrein 1|kallikrein 1, renal/pancreas/salivary|kallikrein serine protease 1|kallikrein-1|kidney/pancreas/salivary gland kallikrein|tissue kallikrein KLK1 Bin Zhao, Yue Liu, Oliver He CK5 DDD DDD1 EBS2 K5 KRT5A WEB: http://www.ncbi.nlm.nih.gov/gene KRT5 keratin 5 3852 12q13.13 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0005200 (EC: TAS, PMID: 7520042); GO_0005515 (EC: IPI, PMID: 10727209); GO_0005737 (EC: IDA); GO_0005739 (EC: IEA); GO_0005829 (EC: TAS); GO_0005882 (EC: IDA, PMID: 10852826); GO_0005886 (EC: IEA); GO_0008544 (EC: TAS, PMID: 7520042); GO_0031581 (EC: TAS); GO_0034329 (EC: TAS); GO_0045095 (EC: IDA, PMID: 7679677); GO_0070062 (EC: IDA, PMID: 19199708); GO_0097110 (EC: IPI, PMID: 10852826) PMID: 1284070; 1372711; 1378478; 1713141; 1718160; 1720261; 2447486; 2455002; 2456903; 2476664; 7506097; 7520042; 7525601; 7534039; 7537780; 7679677; 7684424; 7686424; 7688477; 8636216; 8757772; 8799157; 8807337; 8999895; 9036937; 9129237; 9406827; 9740251; 9786957; 9804357; 9989794; 10234505; 10383750; 10494094; 10727209; 10730767; 10782015; 10852826; 10903910; 11167681; 11407988; 11407989; 11591653; 11973334; 12466114; 12477932; 12648226; 12655565; 12707098; 12802069; 12925204; 14702039; 14723728; 15140024; 15174051; 15324323; 15347343; 15489334; 15618924; 15647384; 15731013; 15731015; 16098032; 16152605; 16465624; 16757171; 16786515; 16831889; 16882168; 17039244; 17229601; 17388661; 17549391; 17650314; 17855059; 17975119; 18035671; 18064689; 18261623; 18499686; 18662989; 18833821; 19023099; 19102940; 19156550; 19199708; 19220453; 19267394; 19278431; 19366057; 19380743; 19430419; 19461998; 19529775; 19578363; 19605815; 19616543; 19651890; 19675450; 19691749; 19720911; 19738201; 19797037; 19847192; 19882246; 20030639; 20055872; 20060687; 20085233; 20128788; 20151404; 20189848; 20199538; 20222933; 20301543; 20665103; 20877624; 20923750; 20936779; 20972266; 21062750; 21080425; 21144712; 21145461; 21164283; 21365123; 21375516; 21427063; 21490615; 21565611; 21569119; 21890473; 21900500; 21906983; 21963094; 21987572; 22161089; 22178446; 22277943; 22437315; 22553810; 22639907; 22832485; 22939629; 23011826; 23075894; 23084401; 23184698; 23327593; 23450297; 23588208; 23798571 keratin 5 Ensembl:ENSG00000186081 HGNC:6442 HPRD:01010 MIM:148040 Vega:OTTHUMG00000169657 Other designations: 58 kda cytokeratin|CK-5|cytokeratin-5|epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types|keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)|keratin, type II cytoskeletal 5|type-II keratin Kb5 KRT5 Bin Zhao, Yue Liu, Oliver He CARD2 CK-8 CK8 CYK8 K2C8 K8 KO WEB: http://www.ncbi.nlm.nih.gov/gene KRT8 keratin 8 3856 12q13 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0005198 (EC: IEA); GO_0005515 (EC: IPI, PMID: 10852826); GO_0005654 (EC: IEA); GO_0005737 (EC: IDA, PMID: 19188445); GO_0005882 (EC: IDA, PMID: 10852826); GO_0016010 (EC: IEA); GO_0016032 (EC: IEA); GO_0016363 (EC: IEA); GO_0030018 (EC: IEA); GO_0032403 (EC: IEA); GO_0033209 (EC: IEA); GO_0042383 (EC: IEA); GO_0043034 (EC: IEA); GO_0045095 (EC: IEA); GO_0045214 (EC: IEA); GO_0051599 (EC: IEA); GO_0051707 (EC: IEA); GO_0060706 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19199708); GO_0097110 (EC: IPI, PMID: 10852826); GO_0097191 (EC: IEA); GO_0097284 (EC: IEA) PMID: 1371500; 1374067; 1690513; 1691124; 1692965; 1705144; 1711732; 2434381; 2456993; 2459839; 2467436; 2471065; 2482017; 6186379; 8037842; 8125298; 8895530; 9054461; 9150948; 9211903; 9409741; 9459484; 9560222; 9630597; 9988531; 10791969; 10809736; 10852826; 10954706; 11076863; 11372009; 11581269; 11684708; 11781324; 11788583; 11790298; 11923318; 12168793; 12218095; 12235123; 12366696; 12367790; 12388748; 12429849; 12474161; 12477932; 12577067; 12724528; 12868678; 12938929; 14556659; 14568682; 14756564; 15090596; 15194421; 15235035; 15248378; 15252834; 15314064; 15319370; 15368451; 15489334; 15489336; 15529338; 15731013; 15737616; 15822942; 15838910; 15846844; 15952740; 15972820; 16000376; 16083285; 16143128; 16169070; 16212417; 16327287; 16341674; 16344560; 16381901; 16565220; 16608857; 16818723; 16831889; 16892178; 16911694; 16944923; 16964243; 17034788; 17039343; 17081983; 17126832; 17213200; 17353931; 17373842; 17509943; 17685470; 17954264; 18236071; 18343496; 18353540; 18432282; 18497550; 18577580; 18725232; 18941637; 18953437; 19032382; 19115206; 19188445; 19190970; 19199708; 19204726; 19246484; 19282868; 19380743; 19419944; 19585610; 19615732; 19738201; 19755983; 19845941; 20098747; 20109457; 20398190; 20508642; 20530580; 20538000; 20587546; 20618440; 20659422; 20729549; 20817646; 20926822; 20936779; 20972266; 21062750; 21139048; 21548936; 21565611; 21705376; 21743057; 21890473; 21900206; 21906983; 21963094; 21987572; 21988832; 22053931; 22114688; 22178446; 22270320; 22304920; 22344252; 22354665; 22379894; 22412904; 22419260; 22505724; 22623428; 22677743; 22853896; 22939629; 23078008; 23164509; 23327593; 23341946; 23358244; 23398456; 23438482; 23449973; 23801880; 23940030; 24003221; 24115814; 24166186; 24183726; 24457600 keratin 8 Ensembl:ENSG00000170421 HGNC:6446 HPRD:01015 MIM:148060 Vega:OTTHUMG00000169881 Other designations: cytokeratin 8|cytokeratin-8|keratin, type II cytoskeletal 8|type-II keratin Kb8 KRT8 Bin Zhao, Yue Liu, Oliver He 24p3 MSFI NGAL WEB: http://www.ncbi.nlm.nih.gov/gene LCN2 lipocalin 2 3934 RP11-395P17.6 9q34 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0002020 (EC: IEA); GO_0005215 (EC: IEA); GO_0005506 (EC: ISS); GO_0005576 (EC: ISS); GO_0005615 (EC: IDA); GO_0005829 (EC: IEA); GO_0006811 (EC: IEA); GO_0009615 (EC: IEA); GO_0009635 (EC: IEA); GO_0010628 (EC: IEA); GO_0015891 (EC: ISS); GO_0031346 (EC: IEA); GO_0031669 (EC: IEA); GO_0036094 (EC: IEA); GO_0042493 (EC: IEA); GO_0042803 (EC: IEA); GO_0045087 (EC: ISS); GO_0070062 (EC: IDA, PMID: 19056867); GO_0070207 (EC: IEA); GO_0070301 (EC: IEA); GO_0071222 (EC: IEA); GO_0071347 (EC: IEA); GO_0071356 (EC: IEA); GO_0097192 (EC: IEA) PMID: 1281792; 7554268; 7683678; 7829063; 7835423; 7997842; 8060329; 8195592; 8633182; 8889548; 9339356; 9842963; 10339412; 10475571; 10529240; 10684642; 10737800; 10777108; 11486081; 11986950; 12473066; 12477932; 15084671; 15342556; 15489334; 15637066; 15670845; 15691834; 15711640; 16060857; 16061852; 16146540; 16254208; 16335952; 16374475; 16381001; 16671099; 16733850; 16740002; 16798734; 16827865; 17114340; 17229907; 17253959; 17294443; 17360238; 17530720; 17554627; 17570904; 17721627; 17847728; 17874137; 17901710; 17907186; 17949711; 18001501; 18029348; 18064607; 18070344; 18275504; 18287807; 18317594; 18337554; 18362300; 18375251; 18392050; 18393169; 18398717; 18437016; 18464118; 18600028; 18663364; 18676832; 18710473; 18753796; 18768801; 18798264; 18803290; 18809975; 18852336; 18927283; 19015448; 19055468; 19056867; 19092815; 19148153; 19148711; 19176795; 19201208; 19237579; 19249501; 19249502; 19287180; 19308044; 19321980; 19342674; 19419554; 19454345; 19466389; 19474273; 19540040; 19549696; 19638718; 19649660; 19661117; 19680166; 19708926; 19714584; 19727808; 19732769; 19850388; 19857721; 19863663; 19875582; 19887608; 19889214; 19904630; 19938135; 19951994; 20030526; 20056755; 20057160; 20068352; 20072790; 20086155; 20101218; 20123318; 20179686; 20208456; 20306447; 20363104; 20373132; 20412947; 20435938; 20496473; 20502037; 20504246; 20504881; 20511727; 20512104; 20527084; 20551266; 20559153; 20587610; 20596614; 20620526; 20628624; 20680102; 20703446; 20802417; 20819195; 20853162; 20870707; 20921623; 20960272; 20961744; 21030534; 21031541; 21048034; 21104585; 21115620; 21132267; 21133718; 21143924; 21150136; 21160226; 21184133; 21257679; 21273640; 21278918; 21300375; 21307379; 21334721; 21403867; 21412214; 21420718; 21439274; 21442621; 21457438; 21463871; 21511111; 21518160; 21545264; 21555394; 21573795; 21576334; 21612443; 21622717; 21649922; 21691251; 21723753; 21726963; 21740336; 21741997; 21756081; 21756891; 21763306; 21836143; 21836147; 21855366; 21872946; 21874256; 21885675; 21947917; 21978028; 21986252; 22035911; 22123561; 22164937; 22169111; 22172816; 22200895; 22200942; 22222228; 22222353; 22226205; 22237710; 22251225; 22291019; 22292925; 22325322; 22340728; 22371224; 22371904; 22404749; 22441986; 22469622; 22500106; 22505707; 22515481; 22529161; 22537138; 22559235; 22562534; 22640376; 22695331; 22705926; 22707293; 22710694; 22723447; 22728279; 22749388; 22767506; 22800509; 22811364; 22820397; 22835414; 22851691; 22876548; 22876549; 22923545; 22928018; 22932106; 22950345; 22965758; 22976261; 22982376; 23020231; 23056218; 23056397; 23100449; 23128339; 23146921; 23150684; 23150981; 23167703; 23207546; 23242471; 23318563; 23327592; 23332549; 23343559; 23344473; 23349979; 23376114; 23389669; 23391290; 23396290; 23403985; 23406465; 23426707; 23439619; 23554037; 23568978; 23627612; 23633156; 23668802; 23668886; 23673972; 23696034; 23712081; 23726574; 23735150; 23736029; 23775308; 23799122; 23825078; 23838135; 23936859; 24052978; 24133923; 24149112; 24199457; 24305547; 24308223; 24321290; 24383284 lipocalin 2 Ensembl:ENSG00000148346 HGNC:6526 HPRD:02551 MIM:600181 Vega:OTTHUMG00000020734 Other designations: 25 kDa alpha-2-microglobulin-related subunit of MMP-9|lipocalin-2|migration-stimulating factor inhibitor|neutrophil gelatinase-associated lipocalin|oncogene 24p3|p25|siderocalin LCN2 LCN2 Bin Zhao, Yue Liu, Oliver He DBS GP330 WEB: http://www.ncbi.nlm.nih.gov/gene LRP2 low density lipoprotein receptor-related protein 2 4036 2q31.1 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0001523 (EC: TAS); GO_0005509 (EC: IEA); GO_0005515 (EC: IPI, PMID: 14528014); GO_0005764 (EC: TAS, PMID: 7768901); GO_0005765 (EC: IDA, PMID: 17897319); GO_0005768 (EC: IEA); GO_0005783 (EC: IEA); GO_0005794 (EC: IEA); GO_0005886 (EC: TAS); GO_0005905 (EC: IEA); GO_0006486 (EC: TAS, PMID: 2786251); GO_0006629 (EC: TAS, PMID: 7768901); GO_0006897 (EC: TAS, PMID: 7768901); GO_0006898 (EC: IEA); GO_0007603 (EC: TAS); GO_0008202 (EC: TAS); GO_0008283 (EC: IEA); GO_0016021 (EC: IEA); GO_0016324 (EC: ISS); GO_0017124 (EC: IEA); GO_0030139 (EC: IEA); GO_0030900 (EC: IEA); GO_0031526 (EC: IEA); GO_0042359 (EC: TAS); GO_0043235 (EC: IDA); GO_0044281 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 1382088; 2786251; 7512726; 7579068; 7657789; 7686151; 7768901; 7775583; 7959795; 8187828; 8344937; 8706697; 8710893; 8898021; 9071320; 9228033; 9334227; 9492085; 9655248; 9727058; 9773776; 9837937; 10073957; 10203351; 10330424; 10364184; 10753646; 10769163; 10772929; 10827173; 10982792; 11095640; 11158855; 11274227; 11278724; 11421580; 11595644; 11717447; 11912251; 11994745; 12107412; 12169628; 12508107; 12707383; 12713445; 12723989; 12768436; 12879166; 14528014; 14657389; 15134832; 15583024; 15670845; 15951480; 16174284; 16344560; 16713569; 16828734; 16908842; 17260971; 17457342; 17474147; 17555532; 17632512; 17897319; 17979745; 18070591; 18174661; 18448595; 18559602; 18685438; 18791690; 19056867; 19913121; 19940034; 20031551; 20038220; 20052685; 20139978; 20301732; 20379614; 20468071; 20628086; 20800603; 20971101; 21079607; 21104416; 21595846; 22170372; 22174918; 22437417; 22565184; 22578327; 22649097; 23274376; 23275343; 23673647; 23909735; 24197071 low density lipoprotein receptor-related protein 2 Ensembl:ENSG00000081479 HGNC:6694 HPRD:02509 MIM:600073 Vega:OTTHUMG00000132179 Other designations: Heymann nephritis antigen homolog|LRP-2|calcium sensor protein|glycoprotein 330|low-density lipoprotein receptor-related protein 2|megalin LRP2 Bin Zhao, Yue Liu, Oliver He LDC SLRR2D WEB: http://www.ncbi.nlm.nih.gov/gene LUM lumican 4060 12q21.3-q22 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0005201 (EC: NAS, PMID: 10892350); GO_0005518 (EC: IDA, PMID: 10892350); GO_0005576 (EC: NAS, PMID: 14718574); GO_0005576 (EC: TAS); GO_0005578 (EC: TAS, PMID: 7665616); GO_0005583 (EC: IDA, PMID: 10734230); GO_0005615 (EC: IDA); GO_0005796 (EC: TAS); GO_0005975 (EC: TAS); GO_0007601 (EC: TAS, PMID: 10802664); GO_0014070 (EC: IEA); GO_0018146 (EC: TAS); GO_0030198 (EC: TAS); GO_0030199 (EC: NAS, PMID: 10892350); GO_0030203 (EC: TAS); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0031012 (EC: ISS, Qualifier: colocalizes_with); GO_0042339 (EC: TAS); GO_0042340 (EC: TAS); GO_0043202 (EC: TAS); GO_0044281 (EC: TAS); GO_0045944 (EC: IEA); GO_0051216 (EC: IEA); GO_0070848 (EC: IEA) PMID: 7558030; 7665616; 8125298; 8595806; 8889549; 10656267; 10734230; 10802664; 10892350; 11016924; 11956587; 12366811; 12477932; 14718574; 14720136; 14760718; 14996436; 15149859; 15336555; 15466200; 15489334; 15505028; 16169070; 16335952; 16760896; 16902402; 17050378; 17558846; 17671699; 18093185; 18477477; 18620607; 19008226; 19012040; 19020750; 19036156; 19060265; 19330863; 19394140; 19569180; 19616852; 19643966; 19686741; 19843670; 19913121; 20010793; 20138170; 20357198; 20360993; 20628086; 20819773; 21421073; 21885486; 21988832; 22073367; 22228989; 22441960; 22721676; 22809227; 22814255; 23145541; 23284291; 23399832; 23480731; 23643269; 23747391; 24061151 lumican HGNC:6724 HPRD:02793 MIM:600616 Other designations: KSPG lumican|keratan sulfate proteoglycan lumican|lumican proteoglycan LUM Bin Zhao, Yue Liu, Oliver He LY64 Ly78 RP105 WEB: http://www.ncbi.nlm.nih.gov/gene CD180 CD180 molecule 4064 5q12 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0002322 (EC: IEA); GO_0005886 (EC: IEA); GO_0006954 (EC: IEA); GO_0016021 (EC: IEA); GO_0031666 (EC: IGI, PMID: 10880523); GO_0045087 (EC: IEA); GO_0071222 (EC: IEA) PMID: 8975706; 9686597; 9763566; 10880523; 12477932; 12539042; 15340161; 15342556; 15489334; 15852007; 17448566; 19423540; 20133206; 20233331; 20237496; 20331378; 20379614; 20406964; 20430725; 20438785; 21048031; 21890473; 21959264; 22219177; 22484241; 23103284 CD180 molecule Ensembl:ENSG00000134061 HGNC:6726 HPRD:03749 MIM:602226 Vega:OTTHUMG00000131229 Other designations: CD180 antigen|lymphocyte antigen 64|lymphocyte antigen-64, radioprotective, 105kDa|radioprotective 105 kDa protein CD180 Bin Zhao, Yue Liu, Oliver He JTK8 p53Lyn p56Lyn WEB: http://www.ncbi.nlm.nih.gov/gene LYN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 4067 8q13 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0001782 (EC: ISS); GO_0001817 (EC: ISS); GO_0001932 (EC: TAS, PMID: 15489917); GO_0001933 (EC: ISS); GO_0002431 (EC: ISS); GO_0002513 (EC: ISS); GO_0002513 (EC: TAS, PMID: 15489917); GO_0002553 (EC: IEA); GO_0002576 (EC: ISS); GO_0002762 (EC: IEA); GO_0002768 (EC: ISS); GO_0002768 (EC: TAS, PMID: 15489917); GO_0002774 (EC: ISS); GO_0002902 (EC: IEA); GO_0004713 (EC: EXP); GO_0004713 (EC: IDA, PMID: 7682714); GO_0004713 (EC: TAS); GO_0004715 (EC: TAS); GO_0004716 (EC: TAS, PMID: 10748115); GO_0005161 (EC: IEA); GO_0005178 (EC: IEA); GO_0005515 (EC: IPI, PMID: 11306681); GO_0005524 (EC: IEA); GO_0005634 (EC: IDA, PMID: 18817770); GO_0005634 (EC: ISS); GO_0005737 (EC: ISS); GO_0005758 (EC: IEA); GO_0005794 (EC: IDA, PMID: 15173188); GO_0005829 (EC: TAS); GO_0005886 (EC: IDA, PMID: 15173188); GO_0005886 (EC: TAS); GO_0006468 (EC: IDA, PMID: 11517336); GO_0006974 (EC: IDA, PMID: 10891478); GO_0006991 (EC: IEA); GO_0007165 (EC: TAS, PMID: 7650013); GO_0007169 (EC: IMP, PMID: 14726379); GO_0007596 (EC: TAS); GO_0008284 (EC: ISS); GO_0008285 (EC: IMP, PMID: 14726379); GO_0008630 (EC: IC, PMID: 11517336); GO_0009636 (EC: IEA); GO_0009725 (EC: ISS); GO_0009743 (EC: IEA); GO_0010976 (EC: IMP, PMID: 17910947); GO_0014003 (EC: IEA); GO_0014069 (EC: IEA); GO_0014070 (EC: IEA); GO_0016032 (EC: IEA); GO_0017124 (EC: IEA); GO_0018108 (EC: IDA, PMID: 7682714); GO_0019899 (EC: IPI); GO_0023014 (EC: TAS, PMID: 10748115); GO_0030061 (EC: IEA); GO_0030168 (EC: TAS); GO_0030218 (EC: ISS); GO_0030335 (EC: IEA); GO_0030889 (EC: IEA); GO_0031175 (EC: IEA); GO_0031295 (EC: TAS); GO_0031625 (EC: IEA); GO_0031663 (EC: ISS); GO_0031668 (EC: IEA); GO_0032868 (EC: IEA); GO_0033003 (EC: ISS); GO_0033628 (EC: IMP, PMID: 18802065); GO_0034136 (EC: ISS); GO_0034144 (EC: ISS); GO_0034605 (EC: IEA); GO_0034666 (EC: IEA); GO_0038095 (EC: TAS); GO_0038096 (EC: TAS); GO_0042531 (EC: ISS); GO_0042629 (EC: IEA); GO_0043200 (EC: IEA); GO_0043208 (EC: IEA); GO_0043304 (EC: ISS); GO_0043407 (EC: ISS); GO_0043552 (EC: IEA); GO_0044325 (EC: IPI, PMID: 12538589); GO_0045087 (EC: TAS); GO_0045121 (EC: IDA, PMID: 11313396); GO_0045646 (EC: ISS); GO_0046777 (EC: IDA, PMID: 7682714); GO_0048471 (EC: IDA); GO_0048678 (EC: IEA); GO_0050663 (EC: IEA); GO_0050707 (EC: IEA); GO_0050727 (EC: IEA); GO_0050777 (EC: TAS, PMID: 15489917); GO_0050853 (EC: IEA); GO_0050855 (EC: ISS); GO_0050900 (EC: TAS); GO_0051219 (EC: IEA); GO_0051272 (EC: IDA, PMID: 16467205); GO_0051279 (EC: IEA); GO_0060252 (EC: IEA); GO_0060369 (EC: IEA); GO_0060397 (EC: TAS); GO_0070304 (EC: IDA, PMID: 10891478); GO_0070372 (EC: ISS); GO_0070373 (EC: ISS); GO_0070447 (EC: IEA); GO_0070667 (EC: ISS); GO_0070668 (EC: IMP, PMID: 11435302); GO_0071300 (EC: IMP, PMID: 17910947); GO_0090025 (EC: IMP, PMID: 18802065); GO_0090330 (EC: ISS); GO_0097028 (EC: ISS); GO_1902532 (EC: ISS); GO_2000670 (EC: ISS) PMID: 1508184; 1510669; 1544885; 1557373; 1602151; 1689310; 1715582; 1720539; 1722201; 1998697; 2065070; 2247464; 2505253; 3561390; 7515933; 7516335; 7516469; 7528770; 7545683; 7568175; 7575560; 7589101; 7612892; 7636265; 7650013; 7682059; 7682714; 7721825; 7782294; 7831290; 7859737; 7895172; 8051175; 8058772; 8084605; 8114715; 8125304; 8197119; 8395016; 8612628; 8621063; 8621719; 8629002; 8630736; 8647200; 8657103; 8692915; 8705993; 8753773; 8756631; 8806683; 8885868; 8910336; 8943427; 8943850; 9020138; 9028946; 9045636; 9104825; 9160881; 9169421; 9169439; 9171348; 9195899; 9202419; 9230816; 9268059; 9295288; 9341198; 9427690; 9446655; 9531288; 9573010; 9581808; 9590210; 9633884; 9687533; 9712716; 9748231; 9819391; 9820500; 9837776; 9892356; 9892651; 9973406; 10026222; 10066823; 10206997; 10228003; 10318860; 10327049; 10339479; 10362357; 10403844; 10415030; 10428862; 10432313; 10469124; 10488096; 10544125; 10564259; 10571082; 10574931; 10586033; 10633085; 10642173; 10733577; 10748054; 10748115; 10749872; 10790433; 10858437; 10872802; 10891478; 10933394; 10942405; 10945993; 10945997; 10981967; 11042209; 11046148; 11071635; 11104670; 11131153; 11157475; 11162638; 11226282; 11301322; 11306681; 11311138; 11313396; 11358993; 11388899; 11389892; 11435302; 11443118; 11514608; 11517336; 11524430; 11526478; 11536198; 11594778; 11598012; 11602604; 11739737; 11744621; 11782428; 11823534; 11825908; 11826756; 11877294; 11943772; 11971018; 12095152; 12096713; 12138090; 12149655; 12181444; 12202484; 12244095; 12244174; 12393728; 12456510; 12468540; 12477932; 12495897; 12496276; 12509383; 12538589; 12586738; 12588871; 12594225; 12642697; 12734410; 12750561; 12810716; 12846735; 12882960; 14662334; 14667819; 14726379; 14969582; 14993658; 15078178; 15144186; 15166241; 15173188; 15190072; 15262430; 15489334; 15489917; 15501776; 15546919; 15592455; 15638726; 15665117; 15707590; 15744341; 15784897; 15795233; 16118313; 16249387; 16316995; 16320343; 16344560; 16374509; 16454711; 16467205; 16568084; 16597828; 16621960; 16640565; 16687414; 16791881; 16799092; 16849330; 17081983; 17164290; 17192257; 17230226; 17233630; 17254966; 17353931; 17692281; 17701175; 17910947; 18029348; 18070987; 18086677; 18174230; 18235045; 18272395; 18363812; 18391951; 18453587; 18457834; 18577747; 18579528; 18768392; 18802065; 18817770; 19086053; 19234487; 19258394; 19290526; 19322201; 19340007; 19356729; 19369946; 19492092; 19590497; 19619611; 19641380; 19710703; 19807924; 19893451; 19930468; 19965664; 20056178; 20079716; 20189992; 20215510; 20379614; 20534535; 20546612; 20561033; 20605918; 20679348; 20693279; 20946164; 20962850; 21106848; 21139048; 21309750; 21345943; 21513978; 21628423; 21730355; 21749309; 21822214; 21890473; 21906983; 21918188; 21951684; 21952639; 21963094; 21978158; 22246800; 22261722; 22364282; 22393415; 22430206; 22490227; 22731636; 22745667; 22845063; 22895079; 22939624; 23039362; 23223229; 23378338; 23396948; 23398456; 23450709; 23503679; 23583449; 23696637; 23866081; 23896410; 23918783; 23949219; 23975833; 24108461 v-yes-1 Yamaguchi sarcoma viral related oncogene homolog Ensembl:ENSG00000254087 HGNC:6735 HPRD:01301 MIM:165120 Vega:OTTHUMG00000044345 Other designations: lck/Yes-related novel protein tyrosine kinase|tyrosine-protein kinase Lyn LYN Bin Zhao, Yue Liu, Oliver He EGP-1 EGP1 GA733-1 GA7331 GP50 M1S1 TROP2 WEB: http://www.ncbi.nlm.nih.gov/gene TACSTD2 tumor-associated calcium signal transducer 2 4070 1p32 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0004872 (EC: TAS, PMID: 7665234); GO_0005615 (EC: IEA); GO_0005634 (EC: IEA); GO_0005829 (EC: TAS, PMID: 10192395); GO_0005887 (EC: TAS, PMID: 7665234); GO_0007166 (EC: TAS, PMID: 7665234); GO_0007601 (EC: IEA); GO_0008283 (EC: TAS, PMID: 7665234); GO_0009925 (EC: ISS); GO_0010633 (EC: ISS); GO_0016020 (EC: TAS, PMID: 8382772); GO_0016328 (EC: ISS); GO_0050678 (EC: IEA); GO_0051497 (EC: ISS); GO_0060675 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19199708); GO_0090191 (EC: ISS); GO_1900025 (EC: ISS); GO_1900028 (EC: ISS); GO_2000146 (EC: ISS); GO_2000738 (EC: IEA) PMID: 2911574; 7665234; 8382772; 9462726; 9610724; 10192395; 10844062; 10928776; 10937555; 11004271; 11306819; 11687514; 12036680; 12107443; 12477932; 12614764; 15013888; 15295654; 15489334; 15489335; 15607035; 15652848; 15851553; 16232198; 16341674; 16707602; 17081983; 17167402; 17653040; 17721311; 17768381; 17878632; 17898270; 18084248; 18281513; 18813308; 18829570; 19088204; 19199708; 19421758; 19434540; 19693293; 20060709; 20454699; 20473768; 20651236; 20858281; 21052915; 21246534; 21418992; 21541270; 21551320; 21674799; 21677668; 22075385; 22190649; 22304920; 22349828; 22378065; 22419550; 22562244; 23031786; 23038033; 23055188; 23536555; 23868985; 23872121; 23979406 tumor-associated calcium signal transducer 2 Ensembl:ENSG00000184292 HGNC:11530 HPRD:00672 MIM:137290 Vega:OTTHUMG00000010067 Other designations: 40kD glycoprotein, identified by monoclonal antibody GA733|cell surface glycoprotein TROP2|cell surface glycoprotein Trop-2|epithelial glycoprotein-1|gastrointestinal tumor-associated antigen GA7331|membrane component chromosome 1 surface marker 1|membrane component, chromosome 1, surface marker 1|pancreatic carcinoma marker protein GA733-1|pancreatic carcinoma marker protein GA7331 TACSTD2 Bin Zhao, Yue Liu, Oliver He H-L6 L6 M3S1 TAAL6 WEB: http://www.ncbi.nlm.nih.gov/gene TM4SF1 transmembrane 4 L six family member 1 4071 3q21-q25 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0003674 (EC: ND); GO_0005887 (EC: IDA, PMID: 7510285); GO_0008150 (EC: ND) PMID: 1565644; 7510285; 7829101; 8168850; 11102519; 11426942; 11739647; 11774983; 12477932; 12855661; 14702039; 15489334; 15812828; 16169070; 18270265; 19322201; 19401544; 20486778; 21139048; 21569526; 21626280; 21656834; 21987572 transmembrane 4 L six family member 1 Ensembl:ENSG00000169908 HGNC:11853 HPRD:01854 MIM:191155 Vega:OTTHUMG00000159597 Other designations: membrane component chromosome 3 surface marker 1|membrane component, chromosome 3, surface marker 1|transmembrane 4 L6 family member 1|transmembrane 4 superfamily member 1|tumor-associated antigen L6 TM4SF1 Bin Zhao, Yue Liu, Oliver He 80K-L MACS PKCSL PRKCSL WEB: http://www.ncbi.nlm.nih.gov/gene MARCKS myristoylated alanine-rich protein kinase C substrate 4082 6q22.2 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0005080 (EC: IEA); GO_0005516 (EC: IEA); GO_0005813 (EC: IEA); GO_0005886 (EC: TAS); GO_0005938 (EC: IEA); GO_0006112 (EC: TAS); GO_0015629 (EC: TAS, PMID: 1560845); GO_0042585 (EC: IEA); GO_0044281 (EC: TAS); GO_0050796 (EC: TAS); GO_0051015 (EC: TAS, PMID: 1560845); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 1396720; 1427823; 1560845; 1860846; 2473066; 7588787; 8034575; 8162705; 8420923; 8486722; 8557118; 8566422; 8798548; 9295331; 10359664; 10734119; 11327693; 11533058; 11825894; 11930178; 12477932; 12577052; 14506265; 14574404; 14702039; 15146197; 15239673; 15345747; 15489334; 15623535; 15889447; 16677610; 16941482; 17081983; 17292354; 17456004; 18055557; 18314541; 18329017; 18457437; 18781797; 18940893; 19056867; 19135240; 19302977; 19322201; 19475567; 19574534; 19773446; 19924305; 20047593; 20203291; 21139048; 21448919; 21763456; 21890473; 21906983; 22053931; 22304920; 22555845; 22710197; 22773836; 22779921; 22810585; 22863883; 22939629; 23376641; 23377348; 23704996; 23876235; 24244333 myristoylated alanine-rich protein kinase C substrate Ensembl:ENSG00000155130 HGNC:6759 HPRD:07519 MIM:177061 Vega:OTTHUMG00000015406 Other designations: myristoylated alanine-rich C-kinase substrate|myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)|phosphomyristin|protein kinase C substrate, 80 kDa protein, light chain MARCKS Bin Zhao, Yue Liu, Oliver He BHLHC58 MAD MAD1 WEB: http://www.ncbi.nlm.nih.gov/gene MXD1 MAX dimerization protein 1 4084 2p13-p12 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0003677 (EC: IEA); GO_0003700 (EC: TAS, PMID: 7829091); GO_0003712 (EC: TAS, PMID: 7829091); GO_0003714 (EC: TAS, PMID: 8425218); GO_0005634 (EC: IEA); GO_0006351 (EC: IEA); GO_0007275 (EC: TAS, PMID: 7829091); GO_0008283 (EC: TAS, PMID: 7829091); GO_0046983 (EC: IEA) PMID: 7829091; 7889570; 8224841; 8290278; 8425218; 9150133; 9150134; 9528857; 9886493; 10229200; 10551834; 10593926; 10918583; 11031250; 11101889; 11106735; 11230181; 11370785; 11430826; 11602341; 12366697; 12391307; 12477932; 12538578; 12553908; 12824180; 15235594; 15282543; 15489334; 15645079; 15815621; 16140957; 16596619; 17082780; 17418410; 17577784; 17998413; 18029348; 18082613; 18155722; 18203738; 18451027; 18457265; 19526459; 19762557; 19766114; 20547842; 21832049; 23112173 MAX dimerization protein 1 Ensembl:ENSG00000059728 HGNC:6761 HPRD:02487 MIM:600021 Vega:OTTHUMG00000129646 Other designations: MAX-binding protein|antagonizer of myc transcriptional activity|max dimerization protein 1|max dimerizer 1 MXD1 Bin Zhao, Yue Liu, Oliver He CD146 MUC18 WEB: http://www.ncbi.nlm.nih.gov/gene MCAM melanoma cell adhesion molecule 4162 11q23.3 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0003094 (EC: IEP); GO_0005886 (EC: NAS, PMID: 8378324); GO_0007155 (EC: IEA); GO_0009653 (EC: TAS, PMID: 8378324); GO_0009897 (EC: IDA); GO_0016021 (EC: IEA); GO_0061042 (EC: IEP) PMID: 2602381; 8162602; 8292890; 8378324; 8573133; 9036955; 9462829; 9730695; 9756930; 10211875; 10451481; 10687524; 10702685; 10726166; 10756096; 11036077; 11329371; 11536311; 11709656; 11722842; 11848444; 12406332; 12477932; 12496470; 12771231; 14534536; 14597988; 14702039; 15231748; 15489334; 15610525; 15897668; 16098047; 16204154; 16541130; 16570276; 16804906; 16835268; 16969099; 17081983; 17320204; 17490776; 17545460; 17786470; 17872908; 17982057; 18029348; 18160586; 18175063; 18604730; 18834073; 18922915; 19029148; 19034879; 19123925; 19200179; 19221091; 19229070; 19703903; 19782948; 20067117; 20127798; 20448216; 20589320; 20657552; 21095067; 21139048; 21239604; 21334670; 21415267; 21450088; 21467165; 21725352; 21804459; 21906983; 21959269; 21963094; 21987572; 22051146; 22057013; 22076922; 22088599; 22311021; 22399604; 22610942; 22635231; 22718841; 22801967; 22826148; 22939629; 22952755; 22975388; 23000965; 23108590; 23223580; 23256918; 23266426; 23333866; 23389031; 23412095; 23649916; 23670160; 23712706; 23738744; 23878390 melanoma cell adhesion molecule Ensembl:ENSG00000076706 HGNC:6934 HPRD:01120 MIM:155735 Vega:OTTHUMG00000166197 Other designations: Gicerin|S-endo 1 endothelial-associated antigen|cell surface glycoprotein MUC18|cell surface glycoprotein P1H12|melanoma adhesion molecule|melanoma-associated antigen A32|melanoma-associated antigen MUC18 MCAM Bin Zhao, Yue Liu, Oliver He C2TA CIITAIV MHC2TA NLRA WEB: http://www.ncbi.nlm.nih.gov/gene CIITA class II, major histocompatibility complex, transactivator 4261 16p13 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0000122 (EC: IMP, PMID: 19041327); GO_0003677 (EC: TAS, Qualifier: NOT, PMID: 15771576); GO_0003713 (EC: TAS, PMID: 7749984); GO_0005515 (EC: IPI, PMID: 16600381); GO_0005524 (EC: IEA); GO_0005654 (EC: TAS); GO_0006351 (EC: IEA); GO_0006954 (EC: IEA); GO_0006955 (EC: TAS, PMID: 8402893); GO_0007568 (EC: IEA); GO_0008022 (EC: IPI, PMID: 16600381); GO_0009986 (EC: IEA); GO_0016605 (EC: IDA); GO_0019221 (EC: TAS); GO_0032403 (EC: IDA, PMID: 17493635); GO_0032966 (EC: IC, PMID: 19041327); GO_0033613 (EC: IPI, PMID: 9171108); GO_0034341 (EC: IDA, PMID: 19041327); GO_0044212 (EC: IDA, PMID: 19041327); GO_0045345 (EC: IDA); GO_0045348 (EC: IC, PMID: 9171108); GO_0045892 (EC: IDA, PMID: 19041327); GO_0045893 (EC: IDA, PMID: 19041327); GO_0045944 (EC: IDA); GO_0045944 (EC: IMP, PMID: 9171108); GO_0046677 (EC: IDA, PMID: 107465); GO_0060333 (EC: TAS); GO_0071257 (EC: IEA); GO_0071360 (EC: IEA) PMID: 107465; 1007865; 1008718; 7749984; 8402893; 8537130; 8717517; 9039770; 9099848; 9171108; 9177216; 9177217; 9184229; 9551976; 10464099; 10501838; 10644363; 10661406; 11003667; 11046145; 11118314; 11416140; 11463838; 11466404; 11514574; 11774613; 11777970; 11792431; 11857059; 11862382; 11953317; 11978778; 11981818; 12052885; 12072194; 12077331; 12218128; 12355430; 12374747; 12391222; 12391224; 12477932; 12517958; 12697811; 12748124; 12859996; 12883198; 12884309; 12919287; 12933903; 14525769; 14528304; 14563641; 14973505; 15100295; 15162420; 15210796; 15242870; 15247294; 15247301; 15326139; 15467734; 15502823; 15528357; 15682480; 15771576; 15788405; 15876426; 15897313; 15950283; 15964851; 16254053; 16426246; 16600381; 16776848; 16849401; 16920747; 16996793; 17012290; 17075826; 17133579; 17183695; 17222823; 17300840; 17493635; 17611194; 17620097; 17623662; 17661914; 17678724; 17711409; 17875550; 17919972; 17956914; 17991736; 18209080; 18215421; 18226342; 18245089; 18349319; 18398440; 18437201; 18593762; 18630461; 18982019; 19041327; 19081173; 19104823; 19201831; 19221398; 19229048; 19317741; 19358337; 19523152; 19567623; 19578796; 19605748; 19659749; 19660582; 19814686; 19853614; 19897249; 19913121; 20078946; 20190752; 20211854; 20228799; 20230522; 20351748; 20378664; 20379614; 20538595; 20585587; 20628086; 20634887; 20942939; 21041720; 21215072; 21216962; 21248776; 21368758; 21458073; 21614020; 21664896; 21670739; 21736733; 21813598; 21940994; 21989738; 22461888; 22513452; 22532676; 22563434; 23007646; 23009575; 23021357; 23052709; 23133532; 23292525; 23489895; 23511026; 23566228; 23777927; 23789844; 24036077; 24055710; 24333266 class II, major histocompatibility complex, transactivator Ensembl:ENSG00000179583 HGNC:7067 HPRD:02475 MIM:600005 Vega:OTTHUMG00000129753 Other designations: MHC class II transactivator|MHC class II transactivator type III|NLR family, acid domain containing|nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing CIITA Bin Zhao, Yue Liu, Oliver He CHDS6 MMP-3 SL-1 STMY STMY1 STR1 WEB: http://www.ncbi.nlm.nih.gov/gene MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) 4314 11q22.3 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0004222 (EC: IEA); GO_0005509 (EC: IEA); GO_0005576 (EC: TAS); GO_0005578 (EC: IEA); GO_0005615 (EC: TAS, PMID: 3360803); GO_0006508 (EC: TAS, PMID: 3360803); GO_0008270 (EC: IEA); GO_0022617 (EC: TAS); GO_0030198 (EC: TAS); GO_0030334 (EC: IEA); GO_0030574 (EC: TAS); GO_0071230 (EC: IEA) PMID: 2383557; 2605216; 2785989; 3030290; 3360803; 3477804; 7523391; 7656014; 7694569; 7998967; 8125298; 8216228; 8486377; 8535233; 8662692; 8740360; 8921407; 8957070; 9083493; 9148753; 9288970; 9548733; 9558113; 9733482; 9737711; 9760240; 9792098; 9827994; 9873489; 9888835; 10419448; 10422833; 10543949; 10639284; 10669564; 10877850; 10922468; 10947989; 10967118; 10986281; 11116068; 11297453; 11327577; 11375993; 11380116; 11438501; 11485914; 11546917; 11751414; 11824472; 11827795; 11836255; 11841344; 11841844; 11977998; 11982752; 11988625; 12009331; 12034345; 12034715; 12054564; 12054629; 12071839; 12103254; 12124858; 12149192; 12204805; 12205736; 12229968; 12230559; 12364729; 12385578; 12432557; 12473595; 12477932; 12477941; 12485468; 12572877; 12634064; 12651627; 12727228; 12736398; 12750310; 12761889; 12784383; 12810672; 12821236; 12832381; 12834347; 12837283; 12866026; 12867428; 12876636; 12880418; 12952836; 13129650; 14712311; 14715248; 14718574; 14984923; 14998290; 15009479; 15033492; 15070833; 15084374; 15094779; 15102660; 15142265; 15161710; 15172469; 15194213; 15203551; 15234427; 15274394; 15288468; 15290728; 15308783; 15312099; 15319295; 15319302; 15337261; 15342709; 15355616; 15383690; 15389640; 15467919; 15474069; 15489334; 15528217; 15529384; 15546966; 15610507; 15640153; 15665388; 15667946; 15701845; 15716694; 15748780; 15757531; 15763339; 15788677; 15823277; 15863497; 15879464; 15894268; 15944607; 15955221; 15972662; 15993717; 16080875; 16082623; 16088212; 16100452; 16102106; 16158251; 16202315; 16238676; 16278009; 16302209; 16311244; 16323393; 16356191; 16405530; 16424284; 16430740; 16516860; 16532917; 16615041; 16629857; 16677108; 16739355; 16802342; 16822591; 16871440; 16899023; 16904077; 16905683; 16919028; 16935611; 16937230; 16972019; 16972255; 16972994; 16984617; 16998253; 17000679; 17000887; 17003494; 17024375; 17027562; 17033924; 17058024; 17065356; 17077200; 17125518; 17137622; 17145822; 17151781; 17178858; 17181997; 17182940; 17198194; 17207965; 17316652; 17316907; 17319946; 17320799; 17373931; 17381556; 17383306; 17434489; 17436000; 17471097; 17473191; 17502998; 17530713; 17537400; 17543900; 17559909; 17564313; 17589947; 17607721; 17617834; 17617837; 17664256; 17669621; 17672933; 17703334; 17710450; 17719307; 17763214; 17763953; 17765638; 17875574; 17893005; 17901377; 17911432; 17919326; 17922906; 17929133; 17942123; 17958893; 17975717; 18006768; 18007247; 18028894; 18029348; 18035073; 18063811; 18076359; 18077489; 18091353; 18172013; 18212480; 18220784; 18225577; 18234553; 18237197; 18262287; 18275497; 18303200; 18308831; 18342317; 18363112; 18426080; 18445105; 18469698; 18485900; 18496696; 18513389; 18541955; 18566588; 18571835; 18573993; 18606478; 18609140; 18619594; 18634015; 18636124; 18674944; 18674955; 18760468; 18801353; 18810583; 18818437; 18818748; 18830194; 18974705; 19005290; 19008710; 19019335; 19019896; 19042922; 19056482; 19064570; 19065524; 19100060; 19131662; 19132754; 19155066; 19159011; 19165649; 19180518; 19212832; 19221176; 19238444; 19245826; 19263529; 19268777; 19275880; 19279308; 19293200; 19318431; 19321798; 19336475; 19337798; 19376102; 19381070; 19432148; 19435861; 19438845; 19479237; 19504098; 19507017; 19507256; 19508478; 19522160; 19527514; 19551141; 19559392; 19576586; 19578796; 19585142; 19614693; 19628284; 19643940; 19664242; 19678938; 19690958; 19729601; 19731200; 19762026; 19770597; 19778329; 19786072; 19789190; 19834535; 19836620; 19843588; 19892918; 19906289; 19913121; 19923455; 19948975; 19949639; 20009418; 20031604; 20038976; 20082876; 20092902; 20113256; 20142115; 20204402; 20211321; 20215736; 20302034; 20346360; 20359947; 20360864; 20374310; 20385826; 20435584; 20436380; 20437586; 20452482; 20453000; 20455995; 20467172; 20472558; 20483790; 20484597; 20485444; 20538124; 20541269; 20574775; 20584750; 20587546; 20609072; 20609440; 20616161; 20616708; 20622166; 20628086; 20628624; 20630073; 20640910; 20654099; 20655856; 20672350; 20673868; 20707923; 20708412; 20731042; 20740392; 20802378; 20822909; 20827277; 20832538; 20853681; 20873121; 20935575; 20936527; 20942234; 20948207; 20959880; 21037509; 21044079; 21048031; 21103065; 21108787; 21111627; 21113741; 21134112; 21150162; 21183746; 21187770; 21190865; 21206012; 21212676; 21219546; 21227015; 21228692; 21232745; 21244504; 21247370; 21277817; 21321996; 21330369; 21336947; 21345293; 21357403; 21431945; 21443102; 21451793; 21454617; 21454822; 21481333; 21601886; 21667159; 21707906; 21753786; 21770773; 21782982; 21802713; 21853476; 21867693; 21871427; 21872914; 21900582; 21917825; 21925226; 21935932; 21948134; 22027013; 22057989; 22089392; 22092736; 22114952; 22121090; 22122951; 22134873; 22175304; 22184093; 22204652; 22207289; 22210296; 22222271; 22241750; 22265821; 22278305; 22314025; 22441965; 22455335; 22457004; 22515887; 22531699; 22587600; 22628530; 22671570; 22730240; 22776467; 22786680; 22819245; 22832961; 22836729; 22862420; 22868188; 22888638; 22890115; 22922035; 22927007; 22965799; 22975753; 23043898; 23100088; 23108733; 23123160; 23128460; 23328930; 23343931; 23357697; 23377317; 23409137; 23412981; 23483952; 23509928; 23522322; 23548063; 23564449; 23575435; 23608488; 23637955; 23696797; 23705892; 23707809; 23769926; 23794948; 23872201; 23922934; 23926017; 23934131; 23978194; 24338609 matrix metallopeptidase 3 (stromelysin 1, progelatinase) Ensembl:ENSG00000149968 HGNC:7173 HPRD:01703 MIM:185250 Vega:OTTHUMG00000048254 Other designations: matrix metalloproteinase 3 (stromelysin 1, progelatinase)|matrix metalloproteinase-3|proteoglycanase|stromelysin-1|transin-1 MMP3 Bin Zhao, Yue Liu, Oliver He MMP-7 MPSL1 PUMP-1 WEB: http://www.ncbi.nlm.nih.gov/gene MMP7 matrix metallopeptidase 7 (matrilysin, uterine) 4316 11q21-q22 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0002779 (EC: IEA); GO_0004222 (EC: IEA); GO_0005576 (EC: TAS); GO_0005578 (EC: IEA); GO_0005615 (EC: TAS, PMID: 1497627); GO_0006508 (EC: TAS, PMID: 1497627); GO_0008270 (EC: IEA); GO_0022617 (EC: TAS); GO_0030198 (EC: TAS); GO_0030574 (EC: TAS); GO_0042127 (EC: IEA); GO_0042493 (EC: IEA); GO_0050829 (EC: IEA); GO_0050830 (EC: IEA) PMID: 1497627; 2253219; 2550050; 2844164; 7694569; 7756291; 7896811; 7980522; 8125298; 8216228; 8294454; 8786845; 8921407; 8978768; 9148753; 9344615; 9349239; 9360944; 9548733; 9737711; 9888422; 10419448; 10504457; 10859319; 10986281; 11220743; 11247893; 11320086; 11323016; 11326276; 11375993; 11701474; 11718469; 11729324; 11801551; 11825873; 11841844; 11925859; 11927011; 11979071; 11983918; 12005165; 12034345; 12034400; 12112311; 12117418; 12464266; 12477932; 12579270; 12684625; 12759241; 12759346; 12808021; 12958188; 12963695; 14516315; 14744783; 15040016; 15102692; 15149334; 15239678; 15342556; 15375490; 15489334; 15523695; 15543138; 15618645; 15652345; 15696117; 15725655; 15800927; 15809719; 15860507; 15866216; 15894268; 15930031; 15979995; 16097959; 16115946; 16142384; 16200075; 16248458; 16278009; 16286510; 16356191; 16405530; 16455621; 16474169; 16474379; 16476739; 16494848; 16804904; 16940985; 16956593; 17009118; 17009258; 17029196; 17038551; 17114341; 17125518; 17129995; 17145820; 17145868; 17153464; 17181997; 17209789; 17219436; 17310281; 17373931; 17396032; 17487834; 17502620; 17507989; 17554258; 17564313; 17607721; 17671679; 17672933; 17695544; 17718429; 17728005; 18006768; 18023162; 18036564; 18179407; 18202161; 18214300; 18308831; 18329694; 18340552; 18364512; 18385523; 18411043; 18422740; 18447576; 18448157; 18485588; 18500535; 18511876; 18548257; 18600430; 18636198; 18644839; 18648013; 18653469; 18674869; 18695873; 18713744; 18715618; 18721140; 18768525; 18798254; 18805052; 18823373; 18931651; 18955490; 18958543; 18974372; 19000448; 19016757; 19020757; 19022775; 19094228; 19121849; 19132754; 19173304; 19181662; 19221016; 19231585; 19266094; 19303106; 19317620; 19329997; 19360357; 19420105; 19421758; 19435861; 19465902; 19505922; 19586554; 19596921; 19608871; 19634113; 19643940; 19654318; 19676133; 19679556; 19682489; 19690403; 19690958; 19701966; 19724852; 19728912; 19730683; 19785773; 19787626; 19789190; 19834535; 19929564; 20007614; 20040080; 20096949; 20113256; 20132413; 20139113; 20146992; 20156184; 20180812; 20192597; 20219015; 20230842; 20300917; 20347338; 20359117; 20360147; 20372795; 20375326; 20452482; 20473942; 20484597; 20491537; 20584750; 20587546; 20605361; 20605794; 20624652; 20628624; 20662554; 20673868; 20680712; 20707923; 20730428; 20736794; 20813660; 20826916; 20827277; 20853162; 20872971; 20939893; 20979817; 21048031; 21116502; 21165404; 21255765; 21302026; 21315773; 21336735; 21455340; 21481787; 21516345; 21517234; 21593056; 21707759; 21722074; 21764478; 21787888; 21814482; 21858178; 21901248; 21912055; 21935919; 21981819; 21999204; 22024063; 22042554; 22047080; 22051851; 22076613; 22089237; 22095947; 22113040; 22131018; 22200690; 22215634; 22227189; 22246095; 22268124; 22292085; 22368250; 22417142; 22524815; 22582975; 22631636; 22645147; 22645431; 22883281; 22936257; 22944341; 22957090; 22957785; 22974215; 23065739; 23076342; 23249718; 23300791; 23343931; 23344661; 23437250; 23535732; 23562717; 23644699; 23671562; 23682078; 23725125; 23783374; 23790336; 23803888; 23807291; 24261884 matrix metallopeptidase 7 (matrilysin, uterine) Ensembl:ENSG00000137673 HGNC:7174 HPRD:01525 MIM:178990 Vega:OTTHUMG00000048193 Other designations: matrilysin|matrin|matrix metalloproteinase 7 (matrilysin, uterine)|matrix metalloproteinase-7|pump-1 protease|uterine matrilysin|uterine metalloproteinase MMP7 Bin Zhao, Yue Liu, Oliver He CLG4B GELB MANDP2 MMP-9 WEB: http://www.ncbi.nlm.nih.gov/gene MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 4318 20q11.2-q13.1 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0001501 (EC: IEA); GO_0001503 (EC: IEA); GO_0004222 (EC: IDA, PMID: 16192646); GO_0005515 (EC: IPI, PMID: 16512877); GO_0005518 (EC: TAS, PMID: 2251898); GO_0005576 (EC: TAS); GO_0005578 (EC: IEA); GO_0005615 (EC: IDA, PMID: 2251898); GO_0006508 (EC: IDA, PMID: 2551898); GO_0007566 (EC: IEA); GO_0008270 (EC: TAS, PMID: 2251898); GO_0022617 (EC: TAS); GO_0030198 (EC: TAS); GO_0030225 (EC: TAS, PMID: 2251898); GO_0030574 (EC: TAS); GO_0042802 (EC: IPI); GO_0043065 (EC: IEA); GO_0050900 (EC: IEA); GO_0051549 (EC: IMP, PMID: 17704059) PMID: 1281792; 1371271; 1400481; 1645657; 1653055; 1653238; 1851724; 1932376; 2158484; 2251898; 2551898; 7669817; 7694569; 7762981; 7896811; 8012988; 8216228; 8426746; 8568270; 8691515; 8978762; 9261109; 9268487; 9344465; 9360944; 9378998; 9578462; 9590175; 9789069; 9878537; 10095777; 10339412; 10389762; 10419448; 10580107; 10598806; 10636480; 10642956; 10644727; 10652271; 10706134; 10796887; 10859319; 10900205; 10988146; 11023497; 11081634; 11134254; 11168762; 11179305; 11279011; 11410119; 11468147; 11486009; 11546917; 11557670; 11576356; 11606713; 11675412; 11688724; 11708786; 11742492; 11756567; 11780052; 11781819; 11813159; 11827795; 11827968; 11830485; 11833938; 11839588; 11839746; 11854622; 11875051; 11876767; 11890521; 11916008; 11920503; 11920505; 11935310; 11940298; 11956628; 11958288; 11971760; 11978564; 11986939; 11994547; 11999552; 12004062; 12029498; 12034345; 12050187; 12051944; 12054499; 12062817; 12063180; 12077439; 12081477; 12082590; 12082592; 12084167; 12103254; 12105194; 12126625; 12127674; 12183836; 12193399; 12205736; 12208863; 12219015; 12231534; 12235127; 12235151; 12356580; 12372334; 12376362; 12398893; 12414663; 12431239; 12431981; 12437116; 12443715; 12444074; 12452001; 12464265; 12471459; 12477932; 12479097; 12479099; 12559990; 12569569; 12586837; 12587534; 12589095; 12606037; 12612199; 12615834; 12626459; 12642591; 12651627; 12663332; 12668489; 12671895; 12704537; 12712078; 12717622; 12717827; 12724312; 12727228; 12728308; 12745093; 12750540; 12753719; 12769333; 12789238; 12791318; 12810681; 12811828; 12824186; 12830465; 12847101; 12850503; 12861851; 12865405; 12866035; 12874388; 12879005; 12880418; 12914776; 12921631; 12947332; 12949792; 12950257; 12952836; 12958623; 12960156; 12960961; 12967855; 12970724; 14500349; 14520690; 14550288; 14550924; 14551878; 14561155; 14581136; 14605329; 14607966; 14624478; 14633819; 14644158; 14661062; 14661256; 14675172; 14676438; 14681642; 14687896; 14697951; 14705229; 14719079; 14744773; 14766231; 14767860; 14963289; 14973177; 14981939; 14982353; 14983226; 14990702; 15009705; 15015767; 15022328; 15033492; 15034761; 15064242; 15067014; 15070833; 15075244; 15084374; 15085249; 15094060; 15105396; 15118287; 15122332; 15123665; 15131051; 15132991; 15146197; 15165255; 15169910; 15191941; 15201662; 15204835; 15212936; 15214991; 15223247; 15239215; 15241180; 15247301; 15248826; 15254682; 15256791; 15265790; 15271946; 15277439; 15288392; 15311942; 15313474; 15316122; 15327032; 15328199; 15356679; 15363817; 15363818; 15384859; 15385524; 15449075; 15465610; 15489334; 15498369; 15522165; 15528190; 15531749; 15531921; 15536155; 15541021; 15556929; 15557756; 15565457; 15569994; 15583828; 15585220; 15604254; 15609121; 15609318; 15628723; 15642145; 15652414; 15672417; 15691353; 15748780; 15754326; 15754388; 15760647; 15760679; 15797648; 15800029; 15809093; 15820246; 15823277; 15824107; 15824527; 15826319; 15831558; 15834245; 15848174; 15855236; 15863510; 15866216; 15885317; 15888067; 15896974; 15904490; 15924675; 15935515; 15944607; 15947272; 15949868; 15952124; 15955221; 15956726; 15998676; 16005367; 16023005; 16026590; 16042227; 16054858; 16061701; 16061852; 16061858; 16080811; 16082623; 16083752; 16086239; 16097959; 16100452; 16102725; 16114056; 16126934; 16133529; 16135959; 16140265; 16155381; 16158251; 16159601; 16166639; 16168399; 16177394; 16179285; 16191301; 16192641; 16192646; 16202218; 16213873; 16237750; 16246065; 16248458; 16248506; 16260653; 16267613; 16272296; 16278009; 16280123; 16288746; 16291395; 16301860; 16313894; 16331612; 16338908; 16339461; 16356191; 16359987; 16372907; 16395864; 16405530; 16413616; 16426593; 16429190; 16432074; 16455621; 16456793; 16463672; 16467043; 16469801; 16476613; 16512877; 16514055; 16516857; 16528670; 16551853; 16574900; 16585124; 16596205; 16615041; 16615109; 16619037; 16631427; 16638593; 16643654; 16652230; 16670311; 16672230; 16674956; 16676616; 16678588; 16690896; 16700817; 16709939; 16718267; 16720051; 16722933; 16732316; 16733654; 16736997; 16739355; 16754484; 16772717; 16778129; 16780738; 16786122; 16803520; 16829143; 16830792; 16840178; 16840734; 16850107; 16864898; 16880228; 16884727; 16888026; 16894529; 16897078; 16914095; 16917093; 16919028; 16921111; 16926552; 16940985; 16945027; 16952784; 16954500; 16961137; 16980554; 16984917; 16987162; 16990034; 16990429; 17008230; 17011110; 17018612; 17020973; 17024375; 17029196; 17030690; 17033924; 17045024; 17049831; 17052690; 17065436; 17071711; 17076610; 17077165; 17077200; 17089188; 17091328; 17109104; 17110919; 17116693; 17126384; 17129456; 17134708; 17137622; 17137715; 17151782; 17161405; 17161406; 17163537; 17174275; 17175378; 17176047; 17178858; 17182940; 17186550; 17200207; 17205957; 17208328; 17214970; 17221318; 17222798; 17223007; 17224907; 17226791; 17237723; 17243139; 17261792; 17275003; 17275949; 17278189; 17289174; 17298441; 17299841; 17310847; 17311279; 17311292; 17320450; 17320799; 17332331; 17334233; 17346338; 17350093; 17357517; 17364896; 17367869; 17383306; 17384080; 17389601; 17394006; 17397984; 17407789; 17418871; 17437609; 17448043; 17448220; 17465457; 17473191; 17475671; 17485071; 17486447; 17487763; 17488482; 17489740; 17493172; 17493236; 17493602; 17498910; 17502998; 17505560; 17531242; 17540340; 17541305; 17546628; 17559070; 17559909; 17562263; 17564313; 17572184; 17572495; 17572998; 17574455; 17575075; 17581602; 17581988; 17582780; 17589947; 17597813; 17599356; 17599818; 17601679; 17607721; 17611666; 17617834; 17624083; 17624726; 17640671; 17643435; 17650671; 17655938; 17657740; 17660250; 17669467; 17671679; 17678975; 17698228; 17702963; 17704059; 17706116; 17706812; 17718386; 17721627; 17725804; 17729419; 17760717; 17761309; 17761425; 17763331; 17768685; 17786346; 17868665; 17879021; 17884772; 17888430; 17888724; 17889183; 17890452; 17892998; 17893005; 17901377; 17912241; 17914564; 17916907; 17917789; 17920311; 17922642; 17923814; 17928006; 17937912; 17949555; 17950725; 17964292; 17964826; 17972522; 17981679; 17986062; 17991734; 18000233; 18006768; 18006877; 18025061; 18028894; 18030366; 18035073; 18042068; 18045645; 18048360; 18048771; 18049028; 18050191; 18052707; 18061419; 18062964; 18063832; 18067861; 18069634; 18070420; 18070596; 18076359; 18077379; 18081721; 18091353; 18093986; 18095095; 18155162; 18155181; 18164995; 18166633; 18167127; 18173548; 18174366; 18177474; 18177875; 18187184; 18194081; 18194466; 18194849; 18214299; 18214300; 18215420; 18217401; 18222174; 18227728; 18234959; 18236174; 18237197; 18259971; 18276934; 18283635; 18288638; 18291374; 18292822; 18295959; 18296264; 18298353; 18302674; 18303200; 18307173; 18309649; 18323498; 18326820; 18332090; 18334147; 18336852; 18337444; 18342317; 18345028; 18347934; 18355442; 18356846; 18357389; 18359769; 18362300; 18368597; 18376229; 18378414; 18390930; 18391843; 18395263; 18397859; 18398039; 18401426; 18408070; 18410405; 18414015; 18414048; 18425389; 18426080; 18428024; 18437914; 18438343; 18444803; 18451168; 18451255; 18452312; 18455130; 18457660; 18468407; 18474748; 18477480; 18479418; 18480385; 18483282; 18483307; 18496568; 18506186; 18512818; 18513509; 18539681; 18548114; 18552608; 18552985; 18554282; 18554596; 18559505; 18563800; 18571010; 18575776; 18587729; 18596065; 18597705; 18609045; 18616513; 18617520; 18618693; 18619044; 18619594; 18632241; 18634035; 18636124; 18641922; 18644862; 18651887; 18652766; 18653544; 18660489; 18663625; 18665441; 18670324; 18674955; 18680431; 18683733; 18683786; 18700005; 18704317; 18706098; 18710428; 18712166; 18713734; 18713744; 18716555; 18719998; 18722610; 18763261; 18773430; 18782525; 18790699; 18797400; 18801463; 18801483; 18802702; 18809380; 18813792; 18818437; 18818748; 18821062; 18829111; 18835014; 18835540; 18835646; 18835949; 18835982; 18843978; 18849127; 18850474; 18852494; 18930181; 18937938; 18942717; 18945772; 18946196; 18948614; 18951331; 18952609; 18953959; 18954444; 18971037; 18976975; 18980523; 18997840; 19005290; 19010864; 19019335; 19019525; 19020728; 19020757; 19022565; 19064570; 19074885; 19093256; 19094228; 19100442; 19105397; 19109975; 19110045; 19130490; 19132754; 19134356; 19141347; 19141395; 19141401; 19144335; 19147749; 19148478; 19148494; 19150151; 19150878; 19150882; 19159011; 19165813; 19176371; 19180518; 19187648; 19188843; 19191857; 19197071; 19199380; 19208844; 19218340; 19219072; 19236750; 19242924; 19243899; 19248107; 19249761; 19264454; 19269113; 19270179; 19270357; 19274436; 19279308; 19283512; 19287189; 19298660; 19303106; 19306108; 19317417; 19317840; 19330734; 19331685; 19331801; 19334035; 19336370; 19337556; 19357773; 19358835; 19376817; 19381161; 19383343; 19385051; 19387352; 19388348; 19388358; 19389382; 19391484; 19395987; 19420105; 19435423; 19438845; 19444758; 19447587; 19448396; 19450561; 19453261; 19454280; 19455469; 19461556; 19464975; 19465902; 19466389; 19473053; 19475568; 19477063; 19480010; 19484688; 19484988; 19494703; 19501047; 19504098; 19507017; 19507256; 19513513; 19523650; 19524176; 19525292; 19526105; 19527514; 19528914; 19529860; 19536654; 19541004; 19541314; 19541433; 19543729; 19548069; 19551542; 19564415; 19574670; 19575173; 19575331; 19576586; 19578796; 19581416; 19582779; 19594729; 19596921; 19597352; 19602039; 19604544; 19608737; 19614693; 19615667; 19617223; 19625121; 19628284; 19629003; 19631393; 19633731; 19640333; 19641039; 19643940; 19657395; 19658178; 19661147; 19662350; 19664242; 19665460; 19668117; 19668239; 19672558; 19674198; 19681038; 19690403; 19693769; 19700239; 19716817; 19723042; 19723139; 19724058; 19724860; 19728856; 19731200; 19734590; 19748093; 19748669; 19751716; 19755933; 19762163; 19783786; 19789190; 19796534; 19799610; 19804834; 19814619; 19834535; 19836620; 19843640; 19857655; 19875168; 19880617; 19885578; 19885589; 19887608; 19887890; 19889076; 19889214; 19903304; 19903858; 19906411; 19909726; 19913121; 19915485; 19921474; 19927649; 19933216; 19933377; 19933990; 19940022; 19944559; 19946014; 19946898; 19956847; 19958602; 19995403; 19996286; 20001295; 20003765; 20009356; 20020446; 20021816; 20021931; 20021962; 20030715; 20030941; 20031158; 20035078; 20041335; 20043135; 20051489; 20051814; 20060752; 20066900; 20070253; 20070483; 20078883; 20082877; 20087345; 20091096; 20097566; 20100617; 20102205; 20110172; 20110530; 20111696; 20120864; 20128385; 20129576; 20133364; 20139322; 20144500; 20149706; 20159608; 20160036; 20160424; 20164037; 20181264; 20184534; 20184870; 20193458; 20195229; 20197064; 20207476; 20211062; 20211065; 20211160; 20214668; 20215707; 20219012; 20222942; 20226090; 20302034; 20305284; 20305574; 20333651; 20333791; 20338991; 20346360; 20352300; 20354277; 20356362; 20359813; 20360147; 20363273; 20364320; 20364697; 20372784; 20373132; 20375027; 20381197; 20388776; 20392358; 20392988; 20395963; 20413683; 20416216; 20417130; 20421725; 20425121; 20427044; 20431850; 20432471; 20443834; 20450704; 20452482; 20453000; 20453486; 20455995; 20458747; 20467172; 20471697; 20473759; 20482566; 20484597; 20485444; 20501425; 20514432; 20514437; 20514473; 20521099; 20529372; 20529817; 20533294; 20534121; 20534943; 20538124; 20541269; 20545111; 20549300; 20550708; 20554312; 20556397; 20563853; 20571492; 20574775; 20575100; 20578262; 20584616; 20587546; 20590473; 20596661; 20600798; 20605480; 20609440; 20616161; 20616708; 20621951; 20627731; 20628086; 20628624; 20631454; 20631638; 20636397; 20638438; 20639647; 20646231; 20646600; 20650312; 20652360; 20652762; 20654099; 20654108; 20654122; 20662554; 20672350; 20673868; 20674181; 20699364; 20704821; 20707923; 20707992; 20725135; 20725776; 20725790; 20732728; 20800577; 20800911; 20802378; 20808730; 20812964; 20813982; 20818082; 20824409; 20825973; 20827608; 20837483; 20838751; 20842516; 20843706; 20853162; 20857147; 20864363; 20872564; 20878580; 20889295; 20923324; 20936527; 20936699; 20937775; 20942234; 20948207; 20957628; 20960272; 20964870; 20970160; 20971661; 20971732; 20977848; 21034616; 21039753; 21041986; 21044610; 21047774; 21048031; 21081040; 21086628; 21089052; 21089054; 21094936; 21103065; 21106094; 21108787; 21116502; 21120482; 21128246; 21135557; 21136273; 21143201; 21146069; 21147512; 21148633; 21150136; 21151179; 21159039; 21159820; 21162890; 21165404; 21170498; 21170718; 21174909; 21187089; 21190541; 21194909; 21195432; 21205837; 21208653; 21212676; 21222132; 21227015; 21229878; 21231907; 21232745; 21238444; 21244504; 21249198; 21254649; 21261731; 21265099; 21274725; 21277149; 21277671; 21279695; 21283828; 21288887; 21305678; 21321391; 21336947; 21349701; 21354279; 21355964; 21367627; 21371122; 21376533; 21389674; 21391238; 21391788; 21393869; 21401309; 21424088; 21425178; 21425912; 21427648; 21428178; 21429222; 21430243; 21437624; 21437990; 21439274; 21442180; 21454378; 21454822; 21455563; 21455583; 21455597; 21461577; 21461859; 21462131; 21463121; 21473134; 21481333; 21485219; 21491088; 21496113; 21503582; 21503589; 21505993; 21506705; 21515251; 21516345; 21519142; 21525012; 21535601; 21541352; 21541674; 21550738; 21553521; 21557297; 21559401; 21559835; 21565179; 21567393; 21574189; 21577212; 21600177; 21601305; 21612954; 21616098; 21620482; 21620625; 21620672; 21621856; 21624249; 21641584; 21652634; 21655354; 21663729; 21664966; 21667159; 21672616; 21676452; 21678108; 21681346; 21687932; 21707819; 21707906; 21710351; 21710717; 21717058; 21718298; 21721010; 21723775; 21726963; 21733941; 21735328; 21737808; 21740772; 21742938; 21750188; 21752154; 21760532; 21760911; 21762266; 21763143; 21764478; 21764480; 21777517; 21781516; 21791204; 21802713; 21813510; 21814723; 21819758; 21824169; 21833719; 21839130; 21840940; 21842128; 21844877; 21855630; 21857898; 21857935; 21860087; 21861843; 21867689; 21872914; 21873432; 21881840; 21882477; 21889192; 21900582; 21913037; 21915713; 21922298; 21923032; 21928345; 21933581; 21933988; 21936677; 21940962; 21946941; 21956669; 21957576; 21958210; 21959615; 21963461; 21963570; 21963718; 21965756; 21969093; 21975935; 21983728; 21989104; 21993004; 21993452; 22005258; 22009750; 22020222; 22027013; 22030137; 22041445; 22052126; 22053594; 22086927; 22092736; 22094096; 22094285; 22107133; 22112973; 22113040; 22116092; 22117411; 22118839; 22121096; 22126484; 22132194; 22138288; 22139647; 22142952; 22151540; 22167195; 22178867; 22194464; 22197032; 22197408; 22200256; 22200563; 22200661; 22200690; 22204652; 22206665; 22210296; 22213073; 22215147; 22220395; 22220905; 22227305; 22228328; 22229442; 22232962; 22234512; 22237453; 22237587; 22241750; 22244537; 22252121; 22253805; 22259987; 22270366; 22272343; 22275073; 22278305; 22280559; 22288519; 22289521; 22289522; 22289852; 22291969; 22303700; 22304569; 22305865; 22309286; 22309692; 22321809; 22327326; 22336124; 22343748; 22391064; 22392094; 22394598; 22395516; 22395947; 22402435; 22402936; 22406112; 22406264; 22407864; 22410369; 22428754; 22433859; 22433968; 22439866; 22446321; 22448134; 22455335; 22459050; 22461694; 22465218; 22465234; 22472880; 22490156; 22490851; 22496335; 22513045; 22514348; 22516898; 22527933; 22528837; 22531699; 22532131; 22534634; 22541398; 22542663; 22547904; 22550024; 22573202; 22581515; 22582506; 22582975; 22591361; 22591362; 22608171; 22613329; 22619232; 22640376; 22640735; 22645431; 22646815; 22658256; 22664146; 22667130; 22674412; 22675930; 22677171; 22684547; 22684781; 22692967; 22694915; 22695075; 22697069; 22706255; 22710862; 22727497; 22729913; 22730324; 22738689; 22740037; 22740332; 22752570; 22773464; 22782080; 22796276; 22806308; 22808470; 22809399; 22810092; 22819245; 22821546; 22829602; 22832979; 22847199; 22848630; 22860023; 22863720; 22865631; 22866313; 22868188; 22878890; 22879913; 22880464; 22883193; 22883281; 22883459; 22884843; 22887854; 22888638; 22890115; 22906271; 22907074; 22914468; 22922035; 22923171; 22931588; 22936257; 22938481; 22942228; 22950839; 22954486; 22955446; 22957785; 22960198; 22964525; 22967049; 22969161; 22974233; 22977287; 22984561; 22985578; 22990627; 22994087; 23010359; 23011799; 23016931; 23018543; 23019342; 23031673; 23054355; 23064462; 23071279; 23076139; 23085464; 23091417; 23100088; 23104504; 23107277; 23107342; 23110201; 23114726; 23122824; 23123160; 23128233; 23134156; 23136157; 23146278; 23150684; 23151854; 23170789; 23175213; 23176145; 23179648; 23182966; 23183822; 23190621; 23201304; 23213753; 23221126; 23229548; 23232575; 23238437; 23240894; 23249715; 23252412; 23257253; 23257658; 23258534; 23263825; 23264211; 23269605; 23271730; 23273944; 23288142; 23292863; 23295196; 23303633; 23306155; 23307113; 23313298; 23317273; 23320481; 23326131; 23328249; 23341882; 23343958; 23349885; 23350235; 23353996; 23356642; 23372434; 23373240; 23375032; 23377317; 23387490; 23387827; 23388475; 23390835; 23401127; 23401274; 23409137; 23441116; 23454149; 23456480; 23476138; 23490413; 23504993; 23509357; 23510467; 23510472; 23516489; 23525277; 23525523; 23526143; 23536722; 23544610; 23547785; 23550278; 23554968; 23555986; 23557756; 23559867; 23566884; 23570558; 23575435; 23580092; 23601700; 23606791; 23615401; 23617547; 23637955; 23639553; 23650722; 23657566; 23660954; 23661254; 23663265; 23673111; 23679245; 23681803; 23696797; 23696833; 23697266; 23708302; 23715826; 23725476; 23742776; 23762835; 23768069; 23770289; 23770367; 23792205; 23793312; 23794948; 23801886; 23805466; 23807209; 23807291; 23814095; 23819814; 23824974; 23825535; 23829879; 23847438; 23870474; 23886165; 23897811; 23901237; 23908067; 23922934; 23936495; 23987197; 23991961; 23993112; 24025248; 24039251; 24065232; 24067484; 24072693; 24075964; 24099107; 24099425; 24122234; 24136650; 24141084; 24174628; 24210229; 24291031; 24297171; 24326842; 24330623; 24335416; 24344010; 24344026; 24374173; 24479343; 24479348 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) Ensembl:ENSG00000100985 HGNC:7176 HPRD:00387 MIM:120361 Vega:OTTHUMG00000033044 Other designations: 92 kDa gelatinase|92 kDa type IV collagenase|macrophage gelatinase|matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)|matrix metalloproteinase-9|type V collagenase MMP9 Bin Zhao, Yue Liu, Oliver He PYHIN3 WEB: http://www.ncbi.nlm.nih.gov/gene MNDA myeloid cell nuclear differentiation antigen 4332 RP11-432E18.11-001 1q22 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0003677 (EC: IEA); GO_0005515 (EC: IPI); GO_0005634 (EC: IEA); GO_0005737 (EC: IEA); GO_0006351 (EC: IEA); GO_0006355 (EC: IEA); GO_0006968 (EC: TAS, PMID: 1644857); GO_0006974 (EC: IMP, PMID: 17875758); GO_0030889 (EC: IMP, PMID: 17875758); GO_0043065 (EC: IMP, PMID: 17875758); GO_0050853 (EC: IMP, PMID: 17875758); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 1377701; 1644857; 7327575; 7512843; 7806273; 8175894; 9712147; 12112016; 12477932; 14618084; 15489334; 15778972; 16458891; 16651415; 17875758; 18029348; 19056867; 19474799; 20193116; 20595294; 23251661; 23455924 myeloid cell nuclear differentiation antigen Ensembl:ENSG00000163563 HGNC:7183 HPRD:15932 MIM:159553 Vega:OTTHUMG00000022776 MNDA Bin Zhao, Yue Liu, Oliver He CD206 CLEC13D CLEC13DL MMR MRC1L1 bA541I19.1 WEB: http://www.ncbi.nlm.nih.gov/gene MRC1 mannose receptor, C type 1 4360 RP11-457D2.1 10p12.33 20140408 9606 10 protein-coding Official from a nomenclature committee GO_0004872 (EC: IDA); GO_0005515 (EC: IPI, PMID: 11222859); GO_0005537 (EC: TAS, PMID: 2373685); GO_0005886 (EC: IDA); GO_0005887 (EC: TAS, PMID: 1294118); GO_0006898 (EC: IDA); GO_0010008 (EC: IDA) PMID: 1294118; 1730714; 2258707; 2373685; 3611070; 8001982; 8940052; 9038177; 9677318; 10779515; 11120831; 11222859; 11715017; 11752456; 11841552; 12368450; 12477932; 14568928; 15042510; 15047828; 15155616; 15190005; 15637102; 15767290; 15955449; 16000387; 16203868; 16385451; 16547227; 16615932; 16672549; 17020928; 17077296; 17255364; 17360361; 17502612; 18029348; 18279703; 18353434; 19196802; 19197942; 19224860; 19403625; 19460752; 19683778; 19772890; 19902202; 20035344; 20139978; 20554962; 20610655; 21029423; 21331365; 21416197; 21628571; 21922073; 21943158; 22132194; 22289891; 22314623; 22392581; 22393309; 22842622; 22967244; 23148569; 23345393; 23603511; 23653008; 23734186; 23951013; 24184555 mannose receptor, C type 1 Ensembl:ENSG00000120586 Ensembl:ENSG00000183748 HGNC:7228 HPRD:01089 MIM:153618 Vega:OTTHUMG00000017754 Vega:OTTHUMG00000017757 Other designations: C-type lectin domain family 13 member D|macrophage mannose receptor 1|macrophage mannose receptor 1-like protein 1|mannose receptor, C type 1-like 1 MRC1 Bin Zhao, Yue Liu, Oliver He CD204 SCARA1 SR-A SRA phSR1 phSR2 WEB: http://www.ncbi.nlm.nih.gov/gene MSR1 macrophage scavenger receptor 1 4481 8p22 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0005044 (EC: IEA); GO_0005515 (EC: IPI, PMID: 17237231); GO_0005581 (EC: IEA); GO_0005829 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 8093617); GO_0006898 (EC: TAS, PMID: 2251254); GO_0010744 (EC: ISS, PMID: 12376530); GO_0010886 (EC: ISS); GO_0030169 (EC: ISS, PMID: 12376530); GO_0030301 (EC: ISS, PMID: 12376530); GO_0030666 (EC: TAS); GO_0034362 (EC: IEA); GO_0034381 (EC: ISS, PMID: 12376530); GO_0042953 (EC: IEA) PMID: 1519666; 2251254; 8093617; 8391600; 8394868; 8900177; 9422792; 9548586; 10381284; 11785981; 12244320; 12376530; 12471593; 12477932; 12819208; 12839931; 12958598; 14614006; 14695991; 14759258; 15042613; 15489334; 15493872; 15556945; 15714208; 15734964; 15824169; 16114055; 16144911; 16287155; 16344560; 16425212; 16598737; 16750665; 17207965; 17237231; 17361499; 17627168; 17709607; 17768178; 17805225; 17903305; 17945237; 18398045; 18436282; 18503826; 18566991; 18660489; 18676680; 18922854; 19120472; 19170196; 19261092; 19625176; 19692168; 19715475; 19790077; 19911804; 19913121; 19914718; 20081102; 20086112; 20338659; 20379614; 20384632; 20410100; 20414830; 20485444; 20628086; 20717903; 20802348; 21077973; 21203986; 21280004; 21460221; 21565611; 21596859; 21658363; 22282357; 22429811; 22470185; 22470186; 22687273; 22763563; 22878280; 23334594; 23648122; 23717201; 23915271 macrophage scavenger receptor 1 Ensembl:ENSG00000038945 HGNC:7376 HPRD:01092 MIM:153622 Vega:OTTHUMG00000094809 Other designations: macrophage acetylated LDL receptor I and II|macrophage scavenger receptor type III|macrophage scavenger receptor types I and II|scavenger receptor class A member 1|scavenger receptor class A, member 1 MSR1 Bin Zhao, Yue Liu, Oliver He IFI-78K IFI78 MX MxA WEB: http://www.ncbi.nlm.nih.gov/gene MX1 myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 4599 21q22.3 20140408 9606 21 protein-coding Official from a nomenclature committee GO_0003924 (EC: IEA); GO_0005515 (EC: IPI, PMID: 15047845); GO_0005525 (EC: IEA); GO_0005634 (EC: IEA); GO_0005737 (EC: IDA); GO_0005789 (EC: IEA); GO_0005829 (EC: IDA, PMID: 16780588); GO_0005829 (EC: TAS); GO_0006915 (EC: TAS, PMID: 9389754); GO_0006952 (EC: TAS, PMID: 2154602); GO_0007165 (EC: TAS, PMID: 9389754); GO_0009615 (EC: IMP, PMID: 15047845); GO_0019221 (EC: TAS); GO_0034340 (EC: TAS); GO_0045071 (EC: IDA, PMID: 14687945); GO_0045087 (EC: TAS, PMID: 16202617); GO_0048471 (EC: IDA, PMID: 15047845); GO_0051607 (EC: IEA); GO_0060337 (EC: TAS) PMID: 1548781; 1629950; 1674496; 2154602; 2161946; 2481229; 2607176; 3162334; 8125298; 8411374; 8798556; 9060610; 9093949; 9389754; 9735310; 9933640; 10590150; 10830953; 10942113; 10971132; 11716541; 11805446; 11847228; 11880649; 11911186; 11916975; 12447867; 12477932; 12539042; 12595530; 12867637; 12944978; 14499622; 14687945; 14702039; 14752052; 14872030; 15047845; 15063762; 15117331; 15135736; 15163707; 15221897; 15355513; 15489334; 15602733; 15757897; 15766558; 15850793; 16009940; 16168514; 16202617; 16344560; 16390004; 16413306; 16459719; 16595158; 16704297; 16712791; 16769349; 16780588; 16792864; 16824203; 16843495; 16894313; 16978069; 17075576; 17126411; 17177148; 17307214; 17374778; 17407708; 17570575; 17845304; 17947524; 18549400; 18668195; 18676680; 18782441; 18843779; 19109387; 19170196; 19177264; 19236454; 19297326; 19434718; 19462904; 19625176; 19625466; 19635103; 19692168; 19744071; 19817957; 20019841; 20237496; 20309637; 20331378; 20428112; 20462354; 20494980; 20538602; 20588308; 20603636; 20628624; 20921509; 20959021; 21166595; 21645334; 21832049; 21859714; 21900240; 21906983; 21918813; 21935451; 21962493; 21992152; 22340769; 22507598; 22531919; 22647704; 22714910; 22950423; 22985419; 22998463; 23015724; 23084925; 23115279; 23152507; 23160781; 23232524; 23274784; 23382691; 23438650; 24049170; 24314641 myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) Ensembl:ENSG00000157601 HGNC:7532 HPRD:00919 MIM:147150 Vega:OTTHUMG00000086755 Other designations: interferon-induced GTP-binding protein Mx1|interferon-induced protein p78|interferon-regulated resistance GTP-binding protein MxA|myxoma resistance protein 1 MX1 Bin Zhao, Yue Liu, Oliver He GADD45BETA MYD118 WEB: http://www.ncbi.nlm.nih.gov/gene GADD45B growth arrest and DNA-damage-inducible, beta 4616 19p13.3 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0000185 (EC: IDA, PMID: 9827804); GO_0000186 (EC: IEA); GO_0005515 (EC: IPI, PMID: 12052864); GO_0005634 (EC: IDA, PMID: 9827804); GO_0005737 (EC: IDA, PMID: 9827804); GO_0006469 (EC: IEA); GO_0006915 (EC: IEA); GO_0006950 (EC: IEA); GO_0007275 (EC: IEA); GO_0030154 (EC: IEA); GO_0043065 (EC: IDA, PMID: 9827804); GO_0046330 (EC: IDA, PMID: 9827804); GO_0051726 (EC: IEA); GO_1900745 (EC: IDA, PMID: 9827804) PMID: 1899477; 8700517; 8889548; 9151207; 9827804; 10101024; 10773677; 10828065; 10872826; 10973963; 11078829; 11498536; 12052864; 12124778; 12162804; 12477932; 12716909; 12759252; 12855571; 14630914; 14743220; 15057824; 15342556; 15489334; 15509538; 15546867; 15616591; 15642734; 16144844; 16256071; 17437852; 17485467; 17591973; 18343408; 18515079; 18576389; 19064572; 19834918; 19877043; 20530689; 20558744; 20942912; 21062976; 21127053; 21139048; 21810943; 22048458; 22096849; 22797925; 23110778; 24104471; 24104474 growth arrest and DNA-damage-inducible, beta Ensembl:ENSG00000099860 HGNC:4096 HPRD:05382 MIM:604948 Vega:OTTHUMG00000180434 Other designations: growth arrest and DNA damage-inducible protein GADD45 beta|myeloid differentiation primary response protein MyD118|negative growth regulatory protein MyD118 GADD45B Bin Zhao, Yue Liu, Oliver He AAT4 FAA4 SMHC SMMHC WEB: http://www.ncbi.nlm.nih.gov/gene MYH11 myosin, heavy chain 11, smooth muscle 4629 16p13.11 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0001725 (EC: IEA); GO_0003774 (EC: IEA); GO_0005515 (EC: IPI, PMID: 19328794); GO_0005516 (EC: IEA); GO_0005524 (EC: IEA); GO_0005829 (EC: TAS); GO_0005859 (EC: IEA); GO_0006936 (EC: TAS); GO_0006939 (EC: ISS); GO_0007411 (EC: TAS); GO_0008307 (EC: IMP, PMID: 16444274); GO_0030241 (EC: ISS); GO_0030485 (EC: IEA); GO_0032982 (EC: IEA); GO_0042470 (EC: IEA); GO_0048251 (EC: IMP, PMID: 16444274); GO_0048739 (EC: IMP, PMID: 16444274); GO_0051015 (EC: IEA) PMID: 7684189; 7916668; 8219185; 8276405; 8424456; 9628874; 9715271; 10048485; 10493829; 10850529; 10906735; 10998642; 11439001; 12239155; 12477932; 14627618; 14702039; 15585652; 15968309; 16000639; 16289162; 16444274; 16502584; 16504290; 16767164; 17081065; 17287858; 17361185; 17571080; 17666408; 17956658; 18391202; 18796164; 18798114; 18941465; 19011151; 19328794; 19380743; 19596235; 20132408; 20301299; 20473970; 20508610; 20618440; 20936779; 21205888; 21698135; 21853274; 21890473; 21906983; 21937134; 21963094; 22001912; 22178446; 22266860; 22505724; 22511748; 22939629; 22968129; 23000965; 23152542; 23160462; 23314172; 23788249; 23966867 myosin, heavy chain 11, smooth muscle Ensembl:ENSG00000133392 HGNC:7569 HPRD:01174 MIM:160745 Vega:OTTHUMG00000129935 Other designations: myosin heavy chain 11|myosin heavy chain, smooth muscle isoform|myosin, heavy polypeptide 11, smooth muscle|myosin-11 MYH11 Bin Zhao, Yue Liu, Oliver He CD56 MSK39 NCAM WEB: http://www.ncbi.nlm.nih.gov/gene NCAM1 neural cell adhesion molecule 1 4684 11q23.1 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0000139 (EC: TAS); GO_0005576 (EC: IEA); GO_0005737 (EC: IDA); GO_0005886 (EC: IDA); GO_0005886 (EC: TAS); GO_0007155 (EC: IEA); GO_0007411 (EC: TAS); GO_0009897 (EC: IDA, PMID: 17213291); GO_0009986 (EC: IDA, PMID: 10766765); GO_0016021 (EC: IEA); GO_0019221 (EC: TAS); GO_0030198 (EC: TAS); GO_0031225 (EC: IEA); GO_0042802 (EC: IPI); GO_0060333 (EC: TAS) PMID: 1339414; 1543753; 1710251; 2612216; 2887295; 3203385; 3253057; 3281256; 3576199; 7624364; 7755976; 7854457; 8075973; 8493579; 8509458; 8702635; 8910306; 9079653; 9774483; 9951628; 10611478; 10760298; 10766765; 10770948; 10772929; 11681838; 11685193; 11820619; 11839780; 11915324; 12003861; 12008081; 12121226; 12477932; 12594840; 12727026; 12743109; 12791681; 12837245; 12937148; 14688313; 14702039; 14726964; 14959847; 15006709; 15050861; 15061198; 15146195; 15223636; 15231874; 15246157; 15356097; 15459479; 15528382; 15626024; 15782066; 15822905; 15950781; 16027151; 16172115; 16211277; 16316416; 16335952; 16344560; 16406048; 16534119; 16572491; 16627685; 16690409; 16892559; 17003032; 17005551; 17043020; 17085484; 17161382; 17181871; 17208489; 17213291; 17216340; 17337466; 17413444; 17431094; 17467233; 17635242; 17683591; 17761687; 17878347; 17891186; 17900814; 17940597; 17971410; 17982624; 17995934; 18209097; 18213713; 18231917; 18261743; 18289872; 18323797; 18333845; 18353777; 18368482; 18384787; 18425046; 18432248; 18462256; 18594005; 18601968; 18628406; 18641363; 18755075; 18828801; 18972120; 18979395; 18990213; 19086053; 19153015; 19222860; 19235015; 19328310; 19328558; 19393299; 19411161; 19507465; 19587433; 19652998; 19724850; 19725832; 19772585; 19788570; 19788615; 19864234; 19897577; 19913121; 20015889; 20027291; 20029409; 20049565; 20059553; 20083228; 20164549; 20187302; 20231901; 20379614; 20414008; 20483466; 20524836; 20538416; 20557674; 20610389; 20628086; 20664990; 20684989; 20696944; 20733159; 20805222; 20875069; 20932956; 21115007; 21116278; 21139048; 21148082; 21178331; 21212386; 21239711; 21457956; 21464126; 21467162; 21515372; 21577011; 21666061; 21669487; 21691800; 21717310; 21739604; 21940794; 21988832; 22001684; 22081445; 22085395; 22099865; 22211388; 22219127; 22228741; 22276608; 22281821; 22319021; 22384114; 22384181; 22423624; 22449227; 22591692; 22732936; 22792160; 23015367; 23022470; 23061666; 23275563; 23292839; 23303482; 23365458; 23418554; 23462508; 23470050; 23480226; 23495921; 23557873; 23635388; 23671285; 23716295; 23810283; 23960070 neural cell adhesion molecule 1 Ensembl:ENSG00000149294 HGNC:7656 HPRD:00301 MIM:116930 Vega:OTTHUMG00000167196 Other designations: antigen recognized by monoclonal antibody 5.1H11|neural cell adhesion molecule, NCAM NCAM1 Bin Zhao, Yue Liu, Oliver He NCF-2 NOXA2 P67-PHOX P67PHOX WEB: http://www.ncbi.nlm.nih.gov/gene NCF2 neutrophil cytosolic factor 2 4688 RP1-127C7.5 1q25 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001669 (EC: IEA); GO_0002474 (EC: TAS); GO_0002479 (EC: TAS); GO_0005515 (EC: IPI, PMID: 11483497); GO_0005730 (EC: IDA); GO_0005737 (EC: IDA); GO_0005829 (EC: TAS); GO_0006801 (EC: TAS, PMID: 7938008); GO_0006968 (EC: TAS, PMID: 1692159); GO_0007568 (EC: IEA); GO_0008022 (EC: IPI, PMID: 9365277); GO_0009055 (EC: TAS, PMID: 1692159); GO_0009749 (EC: IEA); GO_0014823 (EC: IEA); GO_0032010 (EC: TAS); GO_0032496 (EC: IEA); GO_0032570 (EC: IEA); GO_0032870 (EC: IEA); GO_0034616 (EC: IEA); GO_0042493 (EC: IEA); GO_0042554 (EC: TAS, PMID: 7938008); GO_0042590 (EC: TAS); GO_0043020 (EC: TAS, PMID: 7938008); GO_0043525 (EC: IEA); GO_0045087 (EC: TAS, PMID: 7938008); GO_0045730 (EC: TAS, PMID: 7938008); GO_0045777 (EC: IEA); GO_0048365 (EC: IEA); GO_0051701 (EC: TAS); GO_0055093 (EC: IEA); GO_0090382 (EC: TAS) PMID: 1692159; 1979859; 2393022; 7738010; 7903171; 7938008; 8036496; 8257426; 8286749; 8748143; 8889548; 8975869; 9070911; 9083043; 9121467; 9255350; 9365277; 9624165; 9642115; 9914162; 10486263; 10498624; 10598813; 10672014; 11027608; 11090627; 11248021; 11278853; 11483497; 11483614; 11705402; 11733522; 11781392; 11796733; 11893732; 11896062; 11917128; 11929750; 12101222; 12121978; 12130503; 12169629; 12207919; 12477932; 12716910; 12719414; 12813044; 12887891; 15181005; 15256399; 15342556; 15489334; 15513967; 15642721; 16052631; 16293794; 16297854; 16310324; 16344560; 16608528; 16626305; 16710414; 16782902; 16987007; 17060455; 17462995; 17537988; 17651608; 17703412; 17712795; 17910042; 18029348; 18029359; 18424721; 18546332; 18625437; 18676680; 19116138; 19170196; 19258923; 19372141; 19423521; 19423540; 19439231; 19505917; 19625176; 19692168; 19717732; 19913121; 19953534; 20056178; 20074641; 20167518; 20237496; 20375610; 20406964; 20438785; 20503287; 20628086; 20679349; 20842512; 21119665; 21900546; 21954286; 22046141; 22203994; 22562447; 22797925; 22876374; 23187810; 23264412; 23821607 neutrophil cytosolic factor 2 Ensembl:ENSG00000116701 HGNC:7661 HPRD:01991 MIM:608515 Vega:OTTHUMG00000035329 Other designations: 67 kDa neutrophil oxidase factor|NADPH oxidase activator 2|chronic granulomatous disease, autosomal 2|neutrophil NADPH oxidase factor 2|neutrophil cytosol factor 2|neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2) NCF2 Bin Zhao, Yue Liu, Oliver He GIG1 GMP-17 p15-TIA-1 WEB: http://www.ncbi.nlm.nih.gov/gene NKG7 natural killer cell granule protein 7 4818 19q13.41 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0005887 (EC: TAS, PMID: 8458737) PMID: 7510105; 8458737; 12477932; 15489334; 21988832 natural killer cell granule protein 7 Ensembl:ENSG00000105374 HGNC:7830 HPRD:16188 MIM:606008 Vega:OTTHUMG00000182898 Other designations: G-CSF-induced gene 1 protein|GIG-1 protein|granule membrane protein 17|granule membrane protein of 17 kDa|natural killer cell group 7 sequence|natural killer cell protein 7|protein NKG7 NKG7 Bin Zhao, Yue Liu, Oliver He IHPS1 N-NOS NC-NOS NOS bNOS nNOS WEB: http://www.ncbi.nlm.nih.gov/gene NOS1 nitric oxide synthase 1 (neuronal) 4842 12q24.22 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0001666 (EC: IEP, PMID: 16276418); GO_0001917 (EC: ISS, PMID: 17027776); GO_0003958 (EC: IBA); GO_0004517 (EC: IBA); GO_0004517 (EC: ISS); GO_0005506 (EC: IEA); GO_0005515 (EC: IPI, PMID: 11149895); GO_0005516 (EC: IEA); GO_0005737 (EC: TAS, PMID: 17892502); GO_0005829 (EC: TAS); GO_0005856 (EC: ISS, PMID: 7545544); GO_0006527 (EC: IC, PMID: 7545544); GO_0006809 (EC: IBA); GO_0006809 (EC: ISS, PMID: 7545544); GO_0006941 (EC: IEA); GO_0007263 (EC: IBA); GO_0007520 (EC: TAS, PMID: 7545544); GO_0007596 (EC: TAS); GO_0009408 (EC: IDA, PMID: 18048451); GO_0010181 (EC: ISS); GO_0010523 (EC: TAS, PMID: 17568574); GO_0016491 (EC: IBA); GO_0016529 (EC: IDA, PMID: 9892689); GO_0017080 (EC: ISS); GO_0018119 (EC: ISS); GO_0020037 (EC: ISS); GO_0031284 (EC: IBA); GO_0033555 (EC: IMP, PMID: 18391107); GO_0034617 (EC: NAS, PMID: 7488039); GO_0034618 (EC: TAS, PMID: 17029414); GO_0035066 (EC: IEA); GO_0042136 (EC: TAS, PMID: 7545544); GO_0042383 (EC: IDA, PMID: 7545544); GO_0042738 (EC: IEA); GO_0043197 (EC: IEA); GO_0043234 (EC: ISS); GO_0043267 (EC: IEA); GO_0044325 (EC: ISS); GO_0045202 (EC: IEA); GO_0045776 (EC: IBA); GO_0045909 (EC: IDA, PMID: 18048451); GO_0045909 (EC: IMP, PMID: 18391107); GO_0045944 (EC: IEA); GO_0046870 (EC: ISS); GO_0048471 (EC: ISS, PMID: 17027776); GO_0050660 (EC: ISS); GO_0050661 (EC: ISS); GO_0051346 (EC: IEA); GO_0051612 (EC: IEA); GO_0051701 (EC: TAS); GO_0055117 (EC: TAS, PMID: 9892689); GO_0071363 (EC: IEA); GO_0090382 (EC: TAS); GO_0097110 (EC: ISS); GO_1902307 (EC: ISS) PMID: 1375933; 1379716; 1385308; 7488039; 7515942; 7521167; 7528745; 7545544; 7558036; 7561697; 7678401; 7682706; 7685260; 8581564; 8625413; 8864115; 8879752; 8922396; 8943206; 9111048; 9353265; 9412493; 9459447; 9791007; 9808772; 9837926; 9870939; 9880522; 9892689; 10068656; 10187848; 10203575; 10221915; 10400690; 10443886; 10488080; 10518591; 10681501; 10751385; 10824095; 10874031; 11043403; 11052978; 11086993; 11112111; 11149895; 11284722; 11404282; 11511520; 11525805; 11546971; 11590170; 11591728; 11668616; 11747091; 11786430; 11849436; 11849441; 11867766; 11890749; 11960979; 12081486; 12081996; 12140778; 12184796; 12210288; 12237228; 12403769; 12421162; 12445599; 12477932; 12485841; 12490535; 12531780; 12572877; 12630910; 12646269; 12686399; 12715886; 12759556; 12777376; 12782337; 12787407; 12802542; 12816735; 12908999; 12911502; 12947326; 14602725; 14615895; 14623375; 14711010; 14752097; 14757827; 14759629; 14760158; 14980078; 15033959; 15044250; 15075442; 15080837; 15088155; 15094474; 15105416; 15119548; 15161750; 15167446; 15180967; 15191553; 15194886; 15242984; 15251453; 15287858; 15466472; 15548660; 15699372; 15765269; 15856945; 16191396; 16229016; 16238787; 16276418; 16380905; 16389274; 16413742; 16569214; 16690617; 16780147; 16848803; 16950998; 17027776; 17029414; 17161399; 17161551; 17174475; 17328085; 17351066; 17351927; 17359361; 17360663; 17365914; 17418914; 17448763; 17459909; 17466601; 17492662; 17536218; 17568574; 17579350; 17601350; 17660395; 17690329; 17703412; 17892502; 17924542; 17970747; 18024942; 18042235; 18048451; 18058820; 18086269; 18257968; 18391107; 18465682; 18541744; 18544180; 18563708; 18591664; 18606955; 18614941; 18671896; 18675932; 18720901; 18784277; 18821565; 18953332; 18971208; 18977241; 19086053; 19087148; 19089323; 19103196; 19124687; 19161160; 19247692; 19258923; 19326438; 19328558; 19371282; 19372141; 19415232; 19423521; 19423540; 19433760; 19457105; 19505917; 19513863; 19552920; 19603529; 19642705; 19657898; 19687346; 19711100; 19726320; 19726747; 19805695; 19844207; 19851341; 19913121; 19948738; 19997858; 20016223; 20028935; 20043967; 20052609; 20056178; 20060328; 20186396; 20232214; 20379614; 20385275; 20395963; 20406964; 20421643; 20435320; 20438785; 20447567; 20470850; 20503287; 20537599; 20547234; 20581851; 20589495; 20605417; 20609134; 20628086; 20645313; 20705916; 20729196; 20818978; 20888049; 20921115; 21039601; 21041608; 21052031; 21056687; 21098972; 21119059; 21204701; 21281558; 21403107; 21413022; 21467233; 21505843; 21520349; 21545853; 21577011; 21612410; 21613201; 21620982; 21642500; 21679499; 21722677; 21724667; 21847584; 21922604; 22003386; 22008325; 22095614; 22227051; 22374200; 22448456; 22457368; 22486744; 22560594; 22579290; 22589245; 22613021; 22797309; 22875507; 22885173; 22937753; 23062293; 23109339; 23159936; 23289611; 23406356; 23541953; 23567464; 23572278; 23770231; 23826716; 24063785; 24114042; 24235139 nitric oxide synthase 1 (neuronal) Ensembl:ENSG00000089250 HGNC:7872 HPRD:01226 MIM:163731 Vega:OTTHUMG00000137376 Other designations: NOS type I|constitutive NOS|neuronal NOS|nitric oxide synthase, brain|peptidyl-cysteine S-nitrosylase NOS1 NOS1 Bin Zhao, Yue Liu, Oliver He CNF NPHN nephrin WEB: http://www.ncbi.nlm.nih.gov/gene NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 4868 19q13.1 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 16525419); GO_0005886 (EC: IDA, PMID: 17464107); GO_0005886 (EC: ISS); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 9660941); GO_0007155 (EC: IEA); GO_0007254 (EC: IEA); GO_0007519 (EC: IEA); GO_0007520 (EC: IEA); GO_0007588 (EC: TAS, PMID: 9660941); GO_0017022 (EC: IPI); GO_0019904 (EC: IEA); GO_0030507 (EC: IEA); GO_0030838 (EC: IEA); GO_0032836 (EC: IEP, PMID: 17464107); GO_0036057 (EC: ISS); GO_0042995 (EC: IEA); GO_0043234 (EC: IEA); GO_0044062 (EC: IEA); GO_0045121 (EC: IEA); GO_0051393 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867); GO_0072015 (EC: IEP, PMID: 17464107) PMID: 9660941; 9915943; 10393930; 10550324; 10577936; 10652016; 10997929; 11241530; 11562357; 11692176; 11692461; 11733557; 11854170; 11961028; 12324903; 12368218; 12407641; 12436341; 12495287; 12631336; 12660326; 12663475; 12668668; 12846735; 12853730; 12865409; 12920248; 12961083; 14633607; 14736962; 14747939; 15086927; 15149332; 15167446; 15174051; 15331416; 15339792; 15504938; 15545998; 15634346; 15659563; 15780077; 15942677; 16010520; 16288986; 16525419; 16543952; 16644649; 16968734; 16968782; 17211152; 17255128; 17290294; 17301560; 17371932; 17395751; 17413422; 17464107; 17923684; 18212058; 18258597; 18449463; 18480178; 18503012; 18562307; 18614772; 19056867; 19077682; 19179337; 19321760; 19406966; 19443487; 19470472; 19520069; 19528353; 19587356; 19671286; 19746264; 19812541; 19816048; 19833886; 19913121; 20138859; 20172850; 20237496; 20419132; 20424473; 20457601; 20507940; 20576809; 20628086; 20650908; 21125408; 21321125; 21478284; 21803771; 21980157; 22009864; 22176966; 22194892; 22565185; 22584503; 22615747; 22653594; 22718751; 22747997; 23188823; 23824190; 24219158; 24498843 nephrosis 1, congenital, Finnish type (nephrin) Ensembl:ENSG00000161270 HGNC:7908 HPRD:04094 MIM:602716 Vega:OTTHUMG00000180689 Other designations: nephrin|renal glomerulus-specific cell adhesion receptor NPHS1 Bin Zhao, Yue Liu, Oliver He CALJA CD73 E5NT NT NT5 NTE eN eNT WEB: http://www.ncbi.nlm.nih.gov/gene NT5E 5'-nucleotidase, ecto (CD73) 4907 RP11-321N4.1 6q14-q21 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0000166 (EC: IEA); GO_0005737 (EC: IDA); GO_0005886 (EC: IDA); GO_0005886 (EC: TAS); GO_0006144 (EC: TAS); GO_0006195 (EC: TAS); GO_0006196 (EC: IEA); GO_0006206 (EC: TAS); GO_0006259 (EC: TAS, PMID: 2129526); GO_0008253 (EC: EXP); GO_0016020 (EC: TAS, PMID: 2129526); GO_0016311 (EC: EXP); GO_0016311 (EC: TAS, PMID: 2129526); GO_0031225 (EC: IEA); GO_0044281 (EC: TAS); GO_0046086 (EC: IEA); GO_0046135 (EC: TAS); GO_0046872 (EC: IEA); GO_0050728 (EC: IEA); GO_0055086 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 819433; 2129526; 2137649; 2173922; 2848759; 3036115; 8000038; 8566797; 8781432; 9015312; 9113412; 9169488; 9238677; 9361795; 9553767; 9651114; 10470109; 10570953; 10898423; 11004484; 11046060; 11067892; 11149913; 11163406; 12000134; 12030367; 12170585; 12477932; 12774669; 12892649; 14578500; 16303743; 16344560; 16709165; 16718268; 16735966; 17065075; 17487388; 17671792; 17911479; 18029348; 18062933; 18566412; 18636315; 18787389; 18924612; 19008478; 19056867; 19536092; 19956800; 20392501; 20476579; 20628624; 20874842; 20977463; 21057730; 21092450; 21288095; 21346249; 21638125; 21677139; 21732280; 21886157; 21906983; 21933152; 21998208; 22040959; 22184407; 22287455; 22454080; 22553809; 22833450; 22936677; 22939629; 23094051; 23122642; 23142347; 23192044; 23288168; 23315321; 23508889; 23584256; 23625284; 23729294; 23737488; 23880765 5'-nucleotidase, ecto (CD73) Ensembl:ENSG00000135318 HGNC:8021 HPRD:00552 MIM:129190 Vega:OTTHUMG00000015139 Other designations: 5'-NT|5'-nucleotidase|Purine 5-Prime-Nucleotidase|ecto-5'-nucleotidase NT5E Bin Zhao, Yue Liu, Oliver He MTC TRK TRK1 TRKA Trk-A p140-TrkA WEB: http://www.ncbi.nlm.nih.gov/gene NTRK1 neurotrophic tyrosine kinase, receptor, type 1 4914 1q21-q22 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0000186 (EC: TAS); GO_0004714 (EC: IDA, PMID: 15488758); GO_0005166 (EC: IEA); GO_0005515 (EC: IPI, PMID: 12237455); GO_0005524 (EC: IEA); GO_0005768 (EC: TAS); GO_0005769 (EC: ISS); GO_0005770 (EC: ISS); GO_0005886 (EC: ISS); GO_0005886 (EC: TAS); GO_0005887 (EC: IDA, PMID: 15488758); GO_0006468 (EC: IDA, PMID: 15488758); GO_0007169 (EC: TAS); GO_0007190 (EC: TAS); GO_0007202 (EC: TAS); GO_0007264 (EC: TAS); GO_0007265 (EC: TAS); GO_0007411 (EC: IEA); GO_0007568 (EC: IEA); GO_0007611 (EC: IEA); GO_0008285 (EC: IDA, PMID: 15488758); GO_0008285 (EC: IDA, Qualifier: NOT, PMID: 15488758); GO_0009314 (EC: IEA); GO_0009986 (EC: IEA); GO_0010465 (EC: IDA, PMID: 15488758); GO_0010623 (EC: ISS); GO_0010976 (EC: IDA, PMID: 15488758); GO_0010976 (EC: IDA, Qualifier: NOT, PMID: 15488758); GO_0014823 (EC: IEA); GO_0018108 (EC: IDA, PMID: 15488758); GO_0021553 (EC: IEA); GO_0030183 (EC: IEA); GO_0030424 (EC: IEA); GO_0030425 (EC: IEA); GO_0031410 (EC: IEA); GO_0031667 (EC: IEA); GO_0031901 (EC: IEA); GO_0031902 (EC: IEA); GO_0032320 (EC: IDA, PMID: 15488758); GO_0032320 (EC: IDA, Qualifier: NOT, PMID: 15488758); GO_0042490 (EC: IEA); GO_0042493 (EC: IEA); GO_0042803 (EC: IDA, PMID: 17196528); GO_0043025 (EC: IEA); GO_0043068 (EC: ISS); GO_0043121 (EC: TAS, PMID: 9290260); GO_0043234 (EC: ISS); GO_0043235 (EC: IDA); GO_0043524 (EC: ISS); GO_0045471 (EC: IEA); GO_0045766 (EC: IDA, PMID: 15488758); GO_0046579 (EC: IDA, PMID: 15488758); GO_0046579 (EC: IDA, Qualifier: NOT, PMID: 15488758); GO_0046777 (EC: IDA, PMID: 15488758); GO_0046875 (EC: IEA); GO_0048011 (EC: IDA, PMID: 15488758); GO_0048011 (EC: TAS); GO_0048015 (EC: TAS); GO_0048406 (EC: IDA, PMID: 15488758); GO_0048406 (EC: IDA, Qualifier: NOT, PMID: 15488758); GO_0048485 (EC: ISS); GO_0048678 (EC: IEA); GO_0050965 (EC: IEA); GO_0050966 (EC: IEA); GO_0051092 (EC: IDA, PMID: 15488758); GO_0051599 (EC: IEA); GO_0051602 (EC: IEA); GO_0051968 (EC: IEA); GO_0060009 (EC: IEA); GO_0060385 (EC: ISS); GO_0070374 (EC: IDA, PMID: 15488758); GO_0070374 (EC: IDA, Qualifier: NOT, PMID: 15488758); GO_0071316 (EC: IEA); GO_1990090 (EC: ISS) PMID: 1463607; 1532241; 1656363; 1695324; 1706478; 1715690; 1849459; 1850821; 2869410; 2927393; 2966065; 7509449; 7510697; 7541035; 7542991; 7565764; 7601468; 7657647; 7806500; 7823156; 8155326; 8183561; 8226808; 8325889; 8384556; 8524391; 8577769; 8610109; 8621424; 8696348; 8889548; 8943228; 8957089; 9069267; 9099755; 9182757; 9282923; 9290260; 9341772; 9507002; 9856458; 9867838; 9927421; 10090906; 10092678; 10103137; 10233776; 10329710; 10330344; 10388563; 10391209; 10443680; 10490030; 10567924; 10629055; 10679771; 10708759; 10712923; 10747026; 10748052; 10861667; 10982191; 11071380; 11147812; 11150334; 11157096; 11159935; 11244088; 11251075; 11310631; 11466412; 11520933; 11668614; 11705863; 11729324; 11733534; 11738045; 11850535; 11859925; 12006576; 12102460; 12150951; 12208732; 12210794; 12237455; 12406349; 12446789; 12471037; 12477932; 12536040; 14642435; 14691455; 14985763; 14988025; 15024033; 15159601; 15167895; 15273715; 15362372; 15488758; 15489334; 15513915; 15523689; 15637590; 15753086; 15870692; 15950763; 15961390; 16091303; 16113645; 16138253; 16181609; 16246731; 16275928; 16284401; 16373086; 16483615; 16546643; 16586073; 16701206; 16704535; 16710414; 16786155; 16805430; 16860569; 16862449; 16919030; 16935282; 16939974; 16996570; 17143529; 17196528; 17267689; 17447019; 17531524; 17548467; 17617666; 17619016; 17635673; 17667845; 17671718; 17673289; 17850422; 17971243; 18005706; 18072090; 18077166; 18174161; 18203754; 18221326; 18270328; 18305571; 18319596; 18322713; 18419753; 18427551; 18457658; 18678285; 18719857; 18727839; 18780967; 19086053; 19115484; 19120874; 19167335; 19169037; 19177265; 19250380; 19330021; 19386345; 19399531; 19417027; 19435634; 19453261; 19564412; 19598235; 19635108; 19651702; 19730683; 19734938; 19749791; 19758420; 19816090; 19883730; 19913121; 19945432; 19953087; 19957796; 20003389; 20186105; 20209132; 20219210; 20301434; 20301726; 20424473; 20542022; 20600627; 20628086; 20663926; 20680486; 20854189; 20943663; 20977883; 21123453; 21137076; 21139137; 21150695; 21154590; 21184737; 21236475; 21295543; 21317683; 21321391; 21332718; 21397006; 21419569; 21429417; 21503896; 21570973; 21645891; 21728718; 21849536; 21990266; 22128158; 22138126; 22272270; 22343487; 22410777; 22445970; 22454143; 22539856; 22561027; 22623531; 22653642; 22782892; 22902478; 22932111; 22939624; 22954667; 22992069; 23266087; 23400852; 23471969; 23489213; 23569426; 23589303; 23746174; 23788249; 23841091; 23869086; 24162815; 24369899 neurotrophic tyrosine kinase, receptor, type 1 Ensembl:ENSG00000198400 HGNC:8031 HPRD:01869 MIM:191315 Vega:OTTHUMG00000041304 Other designations: Oncogene TRK|TRK1-transforming tyrosine kinase protein|gp140trk|high affinity nerve growth factor receptor|tropomyosin-related kinase A|tyrosine kinase receptor A NTRK1 Bin Zhao, Yue Liu, Oliver He TRKC gp145(trkC) WEB: http://www.ncbi.nlm.nih.gov/gene NTRK3 neurotrophic tyrosine kinase, receptor, type 3 4916 15q25 20140408 9606 15 protein-coding Official from a nomenclature committee GO_0000187 (EC: IDA); GO_0001764 (EC: IEA); GO_0001933 (EC: IDA); GO_0002039 (EC: IPI); GO_0004714 (EC: IEA); GO_0005030 (EC: IDA); GO_0005524 (EC: IEA); GO_0005737 (EC: IEA); GO_0005887 (EC: IEA); GO_0007169 (EC: IDA); GO_0008284 (EC: IDA); GO_0010628 (EC: IDA); GO_0019056 (EC: IEA); GO_0030335 (EC: IDA); GO_0032148 (EC: IDA); GO_0032856 (EC: IDA); GO_0033138 (EC: IDA); GO_0038179 (EC: IDA); GO_0042490 (EC: IEA); GO_0043121 (EC: TAS, PMID: 7806211); GO_0043235 (EC: IDA); GO_0045471 (EC: IEA); GO_0046777 (EC: IEA); GO_0046875 (EC: IEA); GO_0048665 (EC: IEA); GO_0048678 (EC: IEA); GO_0048691 (EC: IEA); GO_0048712 (EC: IEA); GO_0050927 (EC: IDA); GO_0051412 (EC: IEA); GO_0060548 (EC: IEA); GO_0071300 (EC: IEA); GO_0090102 (EC: IEA); GO_2000251 (EC: IDA) PMID: 1326636; 1653651; 7657612; 7806211; 7823156; 7828539; 8344249; 8619474; 8621424; 8889548; 8895847; 9110174; 9195161; 9197281; 9462753; 9488719; 9648868; 9778053; 9856458; 9927421; 9973222; 10027399; 10092678; 10764727; 11157096; 11205744; 11877382; 12006576; 12034707; 12210087; 12237455; 12399943; 12450792; 12471037; 12477932; 12927579; 14668342; 15167446; 15167895; 15198123; 15247919; 15312164; 15513915; 15932601; 16344560; 16537434; 16647839; 16648236; 16786155; 16826429; 16862449; 16941478; 17971243; 18068631; 18179783; 18203754; 18293376; 18319596; 18336001; 18347002; 18367154; 18428117; 18616610; 18639687; 18713973; 19011601; 19040714; 19086053; 19156760; 19179422; 19187638; 19344762; 19351817; 19370765; 19417027; 19453261; 19556619; 19598235; 19680743; 19893451; 20078941; 20160348; 20219210; 20379614; 20554328; 20802235; 21070662; 21139137; 21295543; 21392742; 21401966; 21552290; 21617231; 21728718; 21788388; 21832049; 21988832; 22265740; 22343487; 22388998; 22404213; 22939624; 23027130; 23332094; 23341610; 23416450; 23453885; 23832765; 23869086; 23874207; 24145651 neurotrophic tyrosine kinase, receptor, type 3 Ensembl:ENSG00000140538 HGNC:8033 HPRD:01870 MIM:191316 Vega:OTTHUMG00000148677 Other designations: ETS related protein-neurotrophic receptor tyrosine kinase fusion protein|ETV6-NTRK3 fusion|GP145-TrkC|NT-3 growth factor receptor|tyrosine kinase receptor C NTRK3 Bin Zhao, Yue Liu, Oliver He IFI-4 OIAS OIASI WEB: http://www.ncbi.nlm.nih.gov/gene OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa 4938 12q24.2 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0001730 (EC: IDA, PMID: 11682059); GO_0003725 (EC: IDA, PMID: 12799444); GO_0005515 (EC: IPI); GO_0005524 (EC: TAS); GO_0005576 (EC: IEA); GO_0005634 (EC: IDA, PMID: 3753689); GO_0005634 (EC: IEA); GO_0005737 (EC: IDA, PMID: 19923450); GO_0005739 (EC: IEA); GO_0005783 (EC: IEA); GO_0005829 (EC: TAS); GO_0006006 (EC: IMP); GO_0006164 (EC: IDA, PMID: 11682059); GO_0008270 (EC: IDA, PMID: 11682059); GO_0009615 (EC: IDA, PMID: 18931074); GO_0019221 (EC: TAS); GO_0035457 (EC: IDA, PMID: 3753689); GO_0042593 (EC: IMP); GO_0045071 (EC: IDA, PMID: 18931074); GO_0046872 (EC: IEA); GO_0051259 (EC: IDA, PMID: 11682059); GO_0051607 (EC: IDA, PMID: 19923450); GO_0051607 (EC: IEA); GO_0060333 (EC: TAS); GO_0060337 (EC: TAS); GO_0060700 (EC: IDA, PMID: 19923450) PMID: 1651324; 1708818; 2411547; 2416561; 2426799; 2440675; 2456211; 2830497; 3121313; 3175763; 3753689; 3754863; 6348777; 8125298; 9407111; 9790745; 10464285; 11092454; 11682059; 11980899; 11986302; 12082089; 12447867; 12477932; 12799444; 12944978; 14702039; 15489334; 15732009; 15766558; 15850793; 15855350; 15865429; 15893726; 16014697; 16235172; 16541075; 16644715; 16712791; 16824203; 17092260; 17360168; 17963609; 18029348; 18931074; 19203244; 19247438; 19434718; 19462904; 19515215; 19559055; 19575500; 19665006; 19799013; 19923450; 19956105; 20079393; 20309637; 20588308; 20628624; 20679634; 21050126; 21182542; 21450824; 21638280; 21735172; 21935451; 21988832; 22709583; 22710942; 23011799; 23149075; 23196181; 23220500; 23319625; 23337612; 23455924; 23575436 2'-5'-oligoadenylate synthetase 1, 40/46kDa Ensembl:ENSG00000089127 HGNC:8086 HPRD:08879 MIM:164350 Vega:OTTHUMG00000169792 Other designations: (2-5')oligo(A) synthase 1|(2-5')oligo(A) synthetase 1|2',5'-oligo A synthetase 1|2',5'-oligoadenylate synthetase 1, 40/46kDa|2'-5' oligoadenylate synthetase 1 p48 isoform|2'-5' oligoadenylate synthetase 1 p52 isoform|2'-5'-oligoadenylate synthase 1|2'-5'-oligoisoadenylate synthetase 1|2-5A synthase 1|2-5A synthetase 1|E18/E16|p46/p42 OAS OAS1 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene OSM oncostatin M 5008 22q12.2 20140408 9606 22 protein-coding Official from a nomenclature committee GO_0002675 (EC: IC, PMID: 8999038); GO_0005125 (EC: IDA, PMID: 8999038); GO_0005147 (EC: IPI, PMID: 8999038); GO_0005615 (EC: IEA); GO_0005900 (EC: IDA, PMID: 8999038); GO_0006955 (EC: IEA); GO_0007275 (EC: TAS, PMID: 1717982); GO_0007422 (EC: IEA); GO_0008083 (EC: IDA, PMID: 8999038); GO_0008283 (EC: TAS, PMID: 1542793); GO_0008284 (EC: IDA, PMID: 8999038); GO_0008285 (EC: TAS, PMID: 1717982); GO_0009408 (EC: IEA); GO_0033138 (EC: IDA, PMID: 7508917); GO_0040008 (EC: IEA); GO_0042503 (EC: IEA); GO_0042506 (EC: IEA); GO_0042508 (EC: IEA); GO_0043410 (EC: IDA, PMID: 7508917); GO_0045835 (EC: IEA); GO_0045944 (EC: IDA, PMID: 7508917); GO_0046888 (EC: IDA, PMID: 7867561); GO_0048266 (EC: IEA); GO_0050731 (EC: IDA, PMID: 7508917); GO_0051781 (EC: IEA); GO_2001235 (EC: IEA) PMID: 1536831; 1542793; 1542794; 1717982; 2026606; 2325640; 2779549; 3540948; 7508917; 7867561; 8406444; 8422753; 8999038; 9847074; 9920829; 10556323; 10591208; 10997905; 11711546; 11777927; 11811789; 11818668; 11839742; 11936950; 12061840; 12061841; 12090757; 12138373; 12218157; 12391243; 12477932; 12531804; 12640208; 12692260; 12707269; 15146412; 15461802; 15489334; 15712220; 15809742; 15831292; 15837947; 15863389; 16051226; 16369169; 16713283; 16802343; 17009243; 17028186; 17081797; 17372020; 17471233; 17604327; 17761945; 17881458; 17979974; 18028996; 18187666; 18317962; 18398932; 18499891; 18564531; 18637848; 18772145; 18981157; 19019853; 19086053; 19148539; 19158240; 19158344; 19342253; 19565514; 19652200; 19913121; 19916861; 20088942; 20101226; 20149034; 20189410; 20237496; 20408777; 20626292; 20628086; 20650266; 20661773; 21196532; 21376322; 21399633; 21399864; 21457934; 21481226; 21775705; 21832049; 21900206; 21965736; 21975934; 22051730; 22056139; 22082156; 22267310; 22267707; 22829597; 22931588; 22982441; 23128233; 23313749; 23621172; 23735324; 24600984 oncostatin M Other designations: oncostatin-M OSM Bin Zhao, Yue Liu, Oliver He MSP23 NKEF-A NKEFA PAG PAGA PAGB PRX1 PRXI TDPX2 WEB: http://www.ncbi.nlm.nih.gov/gene PRDX1 peroxiredoxin 1 5052 RP11-291L19.4 1p34.1 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001501 (EC: TAS, PMID: 8089076); GO_0001895 (EC: IEP); GO_0004601 (EC: IDA, PMID: 11986303); GO_0005515 (EC: IPI, PMID: 17909037); GO_0005615 (EC: IDA); GO_0005634 (EC: IDA, PMID: 17603937); GO_0005719 (EC: IEA); GO_0005730 (EC: IEA); GO_0005737 (EC: IDA, PMID: 17603937); GO_0005759 (EC: IEA); GO_0005782 (EC: IEA); GO_0005829 (EC: TAS); GO_0008283 (EC: IEA); GO_0008379 (EC: IDA, PMID: 18606987); GO_0019430 (EC: IEA); GO_0020037 (EC: IEA); GO_0032872 (EC: IEA); GO_0034101 (EC: IEA); GO_0042267 (EC: IEA); GO_0042345 (EC: IEA); GO_0042470 (EC: IEA); GO_0042744 (EC: IDA, PMID: 11986303); GO_0042803 (EC: IEA); GO_0044822 (EC: IDA); GO_0070062 (EC: IDA, PMID: 19199708) PMID: 7702627; 8026862; 8089076; 8123050; 8188254; 8496166; 9334312; 9388242; 10419887; 10530780; 10843682; 11497302; 11752456; 11771746; 11904290; 11986303; 12059788; 12080185; 12161445; 12196529; 12421812; 12477932; 12517450; 12650976; 12714748; 12853451; 14703116; 15105503; 15161933; 15448164; 15489334; 15592455; 15635413; 15840729; 15864612; 15955662; 16009940; 16169070; 16189514; 16196087; 16278420; 16341674; 16376335; 16583711; 16677601; 16710414; 16815975; 17081065; 17141802; 17176052; 17234762; 17352427; 17519234; 17540176; 17601350; 17603937; 17606720; 17676665; 17707450; 17761673; 17786348; 17893145; 17909037; 18029348; 18172504; 18271526; 18281480; 18303054; 18413821; 18501712; 18549262; 18606987; 18624398; 18977241; 18992915; 19016754; 19135121; 19167051; 19199708; 19286652; 19298244; 19338310; 19380743; 19406930; 19471022; 19558833; 19737972; 19738201; 19766572; 19812042; 19902980; 20237496; 20381070; 20589759; 20610706; 20631257; 20647304; 20877624; 21044950; 21139048; 21145461; 21159870; 21273562; 21319273; 21343392; 21401077; 21415862; 21516123; 21565611; 21800051; 21890473; 21906983; 21963094; 21980378; 21987572; 21988832; 22053931; 22158042; 22178446; 22215146; 22234250; 22236188; 22323290; 22446018; 22475482; 22505724; 22537621; 22623428; 22810585; 22863883; 22877757; 22902630; 22939629; 22944692; 22985558; 23000965; 23060010; 23065574; 23084401; 23113308; 23241402; 23246001; 23277276; 23334324; 23386615; 23421996; 23455922; 23479738; 23537643; 23615915; 23723070; 23737084; 23824729; 23956138; 24062305; 24152995; 24244333; 24295341; 24457600 peroxiredoxin 1 Ensembl:ENSG00000117450 HGNC:9352 HPRD:01458 MIM:176763 Vega:OTTHUMG00000007738 Other designations: natural killer cell-enhancing factor A|natural killer-enhancing factor A|peroxiredoxin-1|proliferation-associated gene A|proliferation-associated gene protein|thioredoxin peroxidase 2|thioredoxin-dependent peroxide reductase 2 PRDX1 Bin Zhao, Yue Liu, Oliver He PAPRS WEB: http://www.ncbi.nlm.nih.gov/gene PAX2 paired box 2 5076 RP11-179B2.1 10q24 20140408 9606 10 protein-coding Official from a nomenclature committee GO_0000122 (EC: IEA); GO_0000987 (EC: IDA, PMID: 19118900); GO_0001655 (EC: ISS); GO_0001658 (EC: IEP, PMID: 1337742); GO_0001658 (EC: ISS); GO_0001709 (EC: ISS); GO_0001823 (EC: ISS); GO_0001843 (EC: ISS); GO_0002072 (EC: ISS); GO_0003337 (EC: ISS); GO_0003406 (EC: ISS); GO_0003677 (EC: ISS); GO_0005515 (EC: IPI); GO_0005634 (EC: IDA, PMID: 19048125); GO_0005764 (EC: IEA); GO_0005815 (EC: IDA, PMID: 18000879); GO_0006351 (EC: ISS); GO_0006366 (EC: TAS, PMID: 8760285); GO_0007409 (EC: TAS, PMID: 9106533); GO_0007501 (EC: ISS); GO_0007568 (EC: IEA); GO_0007601 (EC: TAS, PMID: 9106533); GO_0010001 (EC: ISS); GO_0016175 (EC: ISS); GO_0021554 (EC: ISS); GO_0021631 (EC: ISS); GO_0021633 (EC: ISS); GO_0021650 (EC: ISS); GO_0031016 (EC: IEA); GO_0031667 (EC: IEA); GO_0032993 (EC: ISS); GO_0034451 (EC: IDA, PMID: 18000879); GO_0035566 (EC: IMP, PMID: 17513325); GO_0035799 (EC: ISS); GO_0039003 (EC: ISS); GO_0042472 (EC: ISS); GO_0043010 (EC: ISS); GO_0043066 (EC: IDA, PMID: 10980123); GO_0043066 (EC: IMP, PMID: 17357786); GO_0043069 (EC: ISS); GO_0043154 (EC: IDA, PMID: 10980123); GO_0043234 (EC: ISS); GO_0043491 (EC: ISS); GO_0044212 (EC: IDA, PMID: 16368682); GO_0045892 (EC: IMP, PMID: 19118900); GO_0045893 (EC: IDA, PMID: 16368682); GO_0045918 (EC: IMP, PMID: 19118900); GO_0045944 (EC: IDA, PMID: 16735463); GO_0045944 (EC: ISS); GO_0048793 (EC: ISS); GO_0048854 (EC: ISS); GO_0048863 (EC: ISS); GO_0050679 (EC: IDA, PMID: 17357786); GO_0055114 (EC: ISS); GO_0060231 (EC: ISS); GO_0061205 (EC: IEA); GO_0061360 (EC: ISS); GO_0070301 (EC: ISS); GO_0070742 (EC: IEA); GO_0071260 (EC: IEA); GO_0071300 (EC: ISS); GO_0071333 (EC: ISS); GO_0071364 (EC: IEA); GO_0072075 (EC: ISS); GO_0072108 (EC: ISS); GO_0072162 (EC: ISS); GO_0072172 (EC: IEA); GO_0072177 (EC: IEA); GO_0072179 (EC: ISS); GO_0072189 (EC: ISS); GO_0072197 (EC: IEA); GO_0072205 (EC: ISS); GO_0072207 (EC: IEP, PMID: 7856737); GO_0072221 (EC: ISS); GO_0072289 (EC: ISS); GO_0072300 (EC: ISS); GO_0072305 (EC: ISS); GO_0072307 (EC: ISS); GO_0072593 (EC: ISS); GO_0090102 (EC: ISS); GO_0090103 (EC: ISS); GO_0090190 (EC: ISS); GO_1900212 (EC: ISS); GO_1900215 (EC: ISS); GO_1900218 (EC: ISS); GO_2000378 (EC: IDA, PMID: 17357786); GO_2000594 (EC: ISS); GO_2000597 (EC: ISS) PMID: 1337742; 1378753; 7795640; 7819127; 7856737; 7981748; 8241771; 8431641; 8589702; 8661132; 8760285; 8889548; 9106533; 9132492; 9178767; 9297966; 9439670; 9738017; 9760197; 10533062; 10908331; 10938089; 10980123; 11093271; 11134340; 11168927; 11241473; 11461952; 11700324; 11730657; 11826030; 11940591; 12141441; 12200151; 12697057; 12970747; 14561758; 14566649; 14603255; 14627715; 15502805; 15561999; 15652857; 15808183; 16368682; 16385451; 16400326; 16436683; 16509931; 16609680; 16735463; 16814811; 16971658; 17269592; 17357786; 17513325; 17529925; 18000879; 18056486; 18379529; 18439754; 18609495; 18685487; 18941400; 19048125; 19118900; 19228645; 19401348; 19467152; 19517575; 19525924; 19556301; 19851209; 19959718; 20061627; 20061933; 20301552; 20301624; 20358591; 20413145; 20631067; 20670131; 21108633; 21263247; 21380624; 21575608; 21696512; 21730820; 21836481; 21876729; 21880590; 21934480; 21989345; 22080059; 22138676; 22169637; 22213154; 22274645; 22473392; 22495365; 22552444; 22660956; 22683154; 22727345; 22807381; 22984579; 23135283; 23137159; 23194047; 23196794; 23202787; 23328975; 23503645; 23539225; 23686327; 23765687; 23861881; 24334997; 24344503 paired box 2 Ensembl:ENSG00000075891 HGNC:8616 HPRD:01330 MIM:167409 Vega:OTTHUMG00000018913 Other designations: paired box homeotic gene 2|paired box protein Pax-2 PAX2 Bin Zhao, Yue Liu, Oliver He PCPE PCPE-1 PCPE1 WEB: http://www.ncbi.nlm.nih.gov/gene PCOLCE procollagen C-endopeptidase enhancer 5118 7q22 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI); GO_0005518 (EC: IDA, PMID: 12393877); GO_0005615 (EC: IDA); GO_0006508 (EC: IEA); GO_0007275 (EC: TAS, PMID: 7523404); GO_0008201 (EC: IDA, PMID: 12393877); GO_0010952 (EC: IDA, PMID: 12393877); GO_0016504 (EC: IDA, PMID: 12393877); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0070062 (EC: IDA) PMID: 7523404; 8824813; 9799793; 9933570; 10625689; 12105202; 12393284; 12393877; 12477932; 12486138; 12670942; 15489334; 15817489; 16507574; 17446170; 17602227; 18164932; 18350290; 19361460; 19801683; 20207734; 20729553; 21569766; 21940633; 22990118; 23550162; 23815790; 24117177 procollagen C-endopeptidase enhancer Ensembl:ENSG00000106333 HGNC:8738 HPRD:02603 MIM:600270 Vega:OTTHUMG00000156675 Other designations: procollagen C-endopeptidase enhancer 1|procollagen C-proteinase enhancer 1|procollagen COOH-terminal proteinase enhancer 1|procollagen, type 1, COOH-terminal proteinase enhancer|type 1 procollagen C-proteinase enhancer protein|type I procollagen COOH-terminal proteinase enhancer PCOLCE Bin Zhao, Yue Liu, Oliver He IBGC5 PDGF-2 PDGF2 SIS SSV c-sis WEB: http://www.ncbi.nlm.nih.gov/gene PDGFB platelet-derived growth factor beta polypeptide 5155 LL22NC03-10C3.2 22q13.1 20140408 9606 22 protein-coding Official from a nomenclature committee GO_0000139 (EC: TAS); GO_0001666 (EC: IEA); GO_0001892 (EC: ISS); GO_0001938 (EC: IDA, PMID: 9685360); GO_0002548 (EC: IDA, PMID: 17991872); GO_0002576 (EC: TAS); GO_0003104 (EC: ISS); GO_0005161 (EC: IDA, PMID: 2836953); GO_0005161 (EC: IDA, Qualifier: contributes_to, PMID: 2439522); GO_0005161 (EC: IPI, PMID: 2536956); GO_0005161 (EC: NAS, PMID: 1661670); GO_0005515 (EC: IPI, PMID: 10806482); GO_0005518 (EC: IDA, PMID: 8900172); GO_0005576 (EC: NAS, PMID: 1661670); GO_0005576 (EC: TAS); GO_0005615 (EC: IBA); GO_0005737 (EC: ISS); GO_0005788 (EC: TAS); GO_0006260 (EC: IEA); GO_0006468 (EC: IDA, PMID: 17942966); GO_0006929 (EC: IEA); GO_0007173 (EC: TAS); GO_0007179 (EC: ISS); GO_0007507 (EC: ISS); GO_0007596 (EC: TAS); GO_0008083 (EC: IDA, PMID: 12070119); GO_0008284 (EC: IDA, PMID: 2836953); GO_0008543 (EC: TAS); GO_0009611 (EC: IDA, PMID: 2538439); GO_0009611 (EC: NAS, PMID: 1661670); GO_0009986 (EC: IDA, PMID: 2538439); GO_0010512 (EC: IDA, PMID: 2538439); GO_0010544 (EC: IDA, PMID: 2538439); GO_0014068 (EC: IDA, PMID: 10734101); GO_0014911 (EC: IDA, PMID: 12070119); GO_0016049 (EC: IEA); GO_0016176 (EC: IDA, PMID: 17942966); GO_0016323 (EC: ISS); GO_0018105 (EC: IDA, PMID: 16530387); GO_0018108 (EC: IDA, PMID: 10734101); GO_0030031 (EC: IEA); GO_0030036 (EC: IEA); GO_0030097 (EC: IMP, Qualifier: NOT, PMID: 11264163); GO_0030168 (EC: TAS); GO_0030198 (EC: TAS); GO_0030335 (EC: IDA, PMID: 11788434); GO_0030336 (EC: IEA); GO_0031093 (EC: TAS); GO_0031954 (EC: IDA, PMID: 12070119); GO_0032147 (EC: IDA, PMID: 16530387); GO_0032148 (EC: IDA, PMID: 16530387); GO_0032355 (EC: IEA); GO_0032868 (EC: IEA); GO_0035793 (EC: IDA, PMID: 19019919); GO_0038001 (EC: ISS); GO_0038095 (EC: TAS); GO_0042056 (EC: IDA); GO_0042493 (EC: IEA); GO_0042802 (EC: IPI, PMID: 1396586); GO_0042803 (EC: IDA, PMID: 2836953); GO_0043406 (EC: IDA, PMID: 11788434); GO_0043410 (EC: IMP, PMID: 11788434); GO_0043536 (EC: IDA, PMID: 9685360); GO_0043552 (EC: IDA, PMID: 16530387); GO_0045087 (EC: TAS); GO_0045737 (EC: IDA, PMID: 16530387); GO_0045740 (EC: IDA, PMID: 2439522); GO_0045743 (EC: IEA); GO_0045840 (EC: IDA, PMID: 10644978); GO_0045892 (EC: IDA, PMID: 16530387); GO_0045893 (EC: IDA, PMID: 16530387); GO_0046982 (EC: IPI, PMID: 7073684); GO_0048008 (EC: IDA); GO_0048011 (EC: TAS); GO_0048015 (EC: TAS); GO_0048146 (EC: IDA, PMID: 10644978); GO_0048407 (EC: IPI, PMID: 7073684); GO_0048514 (EC: IEA); GO_0048661 (EC: IDA, PMID: 12070119); GO_0050731 (EC: IDA); GO_0050918 (EC: IDA); GO_0050921 (EC: IDA, PMID: 19019919); GO_0051781 (EC: IEA); GO_0060326 (EC: IDA, PMID: 16014047); GO_0060445 (EC: IEA); GO_0060664 (EC: IEA); GO_0061098 (EC: IDA, PMID: 16530387); GO_0070374 (EC: IDA, PMID: 11788434); GO_0071363 (EC: IDA); GO_0071506 (EC: ISS); GO_0072126 (EC: IDA, PMID: 11788434); GO_0072255 (EC: ISS); GO_0072262 (EC: IEA); GO_0072264 (EC: IEA); GO_0072593 (EC: IMP, PMID: 17942966); GO_0090280 (EC: IDA, PMID: 19019919); GO_1900127 (EC: IDA, PMID: 17324121); GO_2000379 (EC: IDA, PMID: 19019919); GO_2000573 (EC: IDA, PMID: 10644978); GO_2000591 (EC: IDA, PMID: 10734101) PMID: 287022; 291037; 1311092; 1317862; 1396586; 1661670; 1906887; 2212004; 2439522; 2536956; 2538439; 2544881; 2836953; 2845420; 2991848; 3023958; 3275870; 3456904; 3472769; 3517869; 3969118; 4033772; 6091919; 6297002; 6306471; 6318322; 6327048; 6329745; 6336312; 6740330; 6844921; 7073684; 7659502; 7829517; 7896901; 8174076; 8647855; 8697155; 8780057; 8889548; 8900172; 8988177; 9057949; 9334164; 9409235; 9685360; 9692901; 9739761; 10409733; 10446987; 10485711; 10591208; 10644978; 10681572; 10734101; 10806482; 11264163; 11331882; 11498506; 11788434; 11811779; 11854294; 11903042; 11994382; 12023768; 12034531; 12070119; 12127408; 12176024; 12411321; 12477932; 12576295; 12615918; 12660034; 12850807; 12850832; 12960151; 14595114; 14643521; 14702039; 14705808; 14760763; 14997209; 15081117; 15461802; 15489334; 15496150; 15522237; 15695519; 15826941; 15897913; 15915457; 15919668; 15956925; 16007151; 16014047; 16081426; 16149045; 16227675; 16477226; 16530387; 16596190; 16641085; 16709185; 16777970; 16843106; 16847823; 16893901; 17074267; 17157157; 17227125; 17229887; 17292826; 17324121; 17338425; 17341683; 17395886; 17431412; 17518657; 17545544; 17608589; 17626901; 17671690; 17724602; 17942966; 17944929; 17950782; 17958740; 17981115; 17991872; 17998143; 18069662; 18075302; 18239136; 18300076; 18310286; 18325189; 18326546; 18420995; 18456732; 18471357; 18478301; 18570917; 18573259; 18700164; 18758297; 18772331; 18819098; 18973553; 19019919; 19060904; 19091791; 19219070; 19447872; 19451595; 19498003; 19576918; 19584075; 19628565; 19635106; 19696027; 19728062; 19890351; 19913121; 19956642; 20019669; 20036421; 20042679; 20061935; 20083221; 20224347; 20233927; 20406730; 20452482; 20485444; 20624165; 20628086; 20628624; 20673868; 20681813; 20694560; 20717068; 20739660; 20822908; 20950212; 21102276; 21111450; 21118571; 21124835; 21129745; 21171016; 21175804; 21211989; 21321954; 21368226; 21429937; 21483469; 21618276; 21750433; 21754979; 21764712; 21766497; 21769672; 21819559; 21919032; 21921666; 21956466; 22021110; 22038837; 22104124; 22133064; 22174424; 22200892; 22279551; 22619279; 22688015; 22689130; 22711911; 22805337; 22908324; 22922228; 23042547; 23199263; 23207290; 23302418; 23537647; 23633549; 23906294; 23913003; 23934686; 24331325 platelet-derived growth factor beta polypeptide Ensembl:ENSG00000100311 HGNC:8800 HPRD:01815 MIM:190040 Vega:OTTHUMG00000151029 Other designations: PDGF subunit B|PDGF, B chain|becaplermin|platelet-derived growth factor 2|platelet-derived growth factor B chain|platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)|platelet-derived growth factor subunit B|platelet-derived growth factor, beta polypeptide (oncogene SIS)|proto-oncogene c-Sis PDGFB Bin Zhao, Yue Liu, Oliver He CD140B IBGC4 IMF1 JTK12 PDGFR PDGFR-1 PDGFR1 WEB: http://www.ncbi.nlm.nih.gov/gene PDGFRB platelet-derived growth factor receptor, beta polypeptide 5159 5q33.1 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0001701 (EC: IEA); GO_0001894 (EC: IEA); GO_0004713 (EC: IDA, PMID: 1653029); GO_0004992 (EC: TAS, PMID: 2536956); GO_0005017 (EC: TAS, PMID: 2536956); GO_0005019 (EC: IDA, PMID: 1314164); GO_0005019 (EC: IMP, PMID: 2554309); GO_0005102 (EC: IPI, PMID: 10821867); GO_0005161 (EC: IPI, PMID: 2542288); GO_0005515 (EC: IPI, PMID: 10336465); GO_0005524 (EC: IEA); GO_0005634 (EC: ISS); GO_0005737 (EC: ISS); GO_0005886 (EC: TAS); GO_0006024 (EC: IEA); GO_0007165 (EC: IDA, PMID: 10821867); GO_0007173 (EC: TAS); GO_0007179 (EC: IEA); GO_0007186 (EC: TAS, PMID: 2536956); GO_0008284 (EC: IMP, PMID: 2554309); GO_0008543 (EC: TAS); GO_0009636 (EC: IEA); GO_0010863 (EC: IDA, PMID: 1653029); GO_0014068 (EC: ISS); GO_0014911 (EC: IMP); GO_0014911 (EC: ISS); GO_0016020 (EC: IDA, PMID: 16477012); GO_0016021 (EC: IEA); GO_0016023 (EC: IEA); GO_0016324 (EC: ISS); GO_0016477 (EC: IMP, PMID: 2554309); GO_0018108 (EC: IDA, PMID: 1653029); GO_0019901 (EC: IPI, PMID: 16479011); GO_0030325 (EC: IEA); GO_0030335 (EC: IDA, PMID: 17470632); GO_0031226 (EC: IDA, PMID: 2554309); GO_0032355 (EC: IEA); GO_0032516 (EC: IDA, PMID: 7691811); GO_0032526 (EC: IEA); GO_0032956 (EC: ISS); GO_0032967 (EC: IEA); GO_0034405 (EC: IEA); GO_0035441 (EC: ISS); GO_0035789 (EC: IEA); GO_0035791 (EC: IMP, PMID: 2554309); GO_0035793 (EC: ISS); GO_0035909 (EC: ISS); GO_0036120 (EC: TAS, PMID: 2536956); GO_0038085 (EC: IPI, PMID: 17470632); GO_0038091 (EC: IDA, PMID: 17470632); GO_0038095 (EC: TAS); GO_0042060 (EC: IEA); GO_0042542 (EC: IEA); GO_0043066 (EC: IEA); GO_0043202 (EC: IEA); GO_0043406 (EC: ISS); GO_0043548 (EC: IEA); GO_0043552 (EC: IDA, PMID: 1314164); GO_0045087 (EC: TAS); GO_0045840 (EC: ISS); GO_0046488 (EC: IMP, PMID: 1653029); GO_0046777 (EC: IDA, PMID: 1314164); GO_0048008 (EC: IDA, PMID: 1314164); GO_0048011 (EC: TAS); GO_0048015 (EC: IMP, PMID: 2554309); GO_0048015 (EC: TAS); GO_0048407 (EC: IDA, PMID: 2554309); GO_0048407 (EC: IPI, PMID: 2536956); GO_0048661 (EC: IMP); GO_0048661 (EC: ISS); GO_0048705 (EC: IEA); GO_0048745 (EC: IEA); GO_0048839 (EC: IEA); GO_0050730 (EC: IEA); GO_0050921 (EC: ISS); GO_0055003 (EC: ISS); GO_0055093 (EC: IEA); GO_0060326 (EC: IDA, PMID: 17991872); GO_0060981 (EC: ISS); GO_0061298 (EC: ISS); GO_0070374 (EC: IMP); GO_0070374 (EC: ISS); GO_0071670 (EC: ISS); GO_0072075 (EC: IEA); GO_0072262 (EC: ISS); GO_0072277 (EC: ISS); GO_0072278 (EC: IEA); GO_0072284 (EC: IEA); GO_0090280 (EC: ISS); GO_2000379 (EC: ISS); GO_2000573 (EC: ISS) PMID: 1314164; 1333047; 1372092; 1374684; 1385407; 1653029; 1696179; 1720539; 1847074; 2157284; 2161888; 2173144; 2475255; 2531695; 2536956; 2542288; 2550144; 2554309; 2835772; 2846185; 2850496; 3107886; 7523122; 7537362; 7545675; 7592796; 7665222; 7685273; 7688466; 7689724; 7691811; 7693727; 7876130; 7935391; 8041791; 8195171; 8302579; 8344248; 8388538; 8443409; 8549654; 8586421; 8617789; 8647855; 8647858; 8657151; 8702949; 8890167; 8940081; 8943344; 8947043; 9006901; 9057949; 9207175; 9285559; 9362449; 9373237; 9425276; 9484840; 9492013; 9506992; 9737977; 9739761; 9808151; 9819414; 9920285; 9989826; 10022833; 10026169; 10066366; 10336465; 10391677; 10514377; 10697503; 10733900; 10805725; 10806474; 10821867; 10938113; 10964931; 11027258; 11046132; 11172806; 11266449; 11331881; 11331882; 11350938; 11567151; 11861293; 11882663; 11896619; 11903042; 11919393; 12062403; 12177062; 12381737; 12477932; 12480944; 12551917; 12681492; 12700668; 12717448; 12933652; 12941951; 14514732; 14612918; 14657000; 14705808; 14745431; 14871970; 14966296; 14973141; 14996833; 15054045; 15087372; 15146197; 15271984; 15284236; 15340161; 15377662; 15380338; 15489334; 15504957; 15522237; 15588985; 15630487; 15640155; 15665766; 15763428; 15791568; 15828871; 15862965; 15889147; 15902258; 15944146; 15987639; 15994317; 16007172; 16135792; 16149045; 16189514; 16407661; 16456542; 16477012; 16479011; 16617096; 16899864; 17047316; 17082185; 17145809; 17158602; 17229632; 17296564; 17298867; 17301821; 17344284; 17363728; 17403678; 17431412; 17448020; 17462601; 17470632; 17568996; 17584975; 17599906; 17620338; 17727656; 17785434; 17872908; 17981115; 17991872; 18077793; 18157090; 18193084; 18262053; 18288404; 18326546; 18331602; 18369471; 18483410; 18492696; 18519768; 18524994; 18541413; 18593464; 18621860; 18697203; 18809244; 18950621; 19006078; 19016370; 19028276; 19035305; 19041155; 19074160; 19074885; 19092051; 19115205; 19167335; 19180499; 19242504; 19280218; 19302534; 19333949; 19369415; 19377443; 19386600; 19497963; 19542682; 19582773; 19636022; 19644140; 19696027; 19717644; 19815557; 19839721; 19843560; 19913121; 19952113; 19953087; 20103629; 20107158; 20164181; 20197394; 20301594; 20377208; 20424473; 20453000; 20505768; 20510677; 20534510; 20571834; 20610572; 20613589; 20624165; 20628086; 20628624; 20637704; 20659339; 20822908; 20950212; 21074616; 21097719; 21098708; 21118571; 21124835; 21139048; 21186266; 21310211; 21409488; 21429937; 21492463; 21536039; 21574155; 21590454; 21729646; 21769672; 21769866; 21781317; 21787840; 21868707; 21888769; 21938754; 22159994; 22188481; 22262849; 22331939; 22344267; 22415093; 22541084; 22619173; 22661233; 22689130; 22697462; 22805337; 22865780; 22927028; 22939624; 22974441; 23006663; 23042547; 23064464; 23146028; 23255827; 23382862; 23567961; 23591770; 23615556; 23620752; 23651497; 23731537; 23731542; 23748876; 23769926; 23860180; 23861540; 23874238; 24012959; 24065723 platelet-derived growth factor receptor, beta polypeptide Ensembl:ENSG00000113721 HGNC:8804 HPRD:01423 MIM:173410 Vega:OTTHUMG00000130053 Other designations: CD140 antigen-like family member B|PDGF-R-beta|PDGFR-beta|beta-type platelet-derived growth factor receptor|platelet-derived growth factor receptor 1|platelet-derived growth factor receptor beta PDGFRB Bin Zhao, Yue Liu, Oliver He DFNB4 EVA PDS TDH2B WEB: http://www.ncbi.nlm.nih.gov/gene SLC26A4 solute carrier family 26 (anion exchanger), member 4 5172 7q31 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0005886 (EC: TAS); GO_0006811 (EC: TAS); GO_0006885 (EC: ISS); GO_0007605 (EC: TAS, PMID: 10192399); GO_0008271 (EC: IEA); GO_0008272 (EC: TAS, PMID: 9398842); GO_0015108 (EC: IEA); GO_0015111 (EC: IEA); GO_0015116 (EC: TAS, PMID: 9398842); GO_0015698 (EC: TAS, PMID: 10192399); GO_0016021 (EC: IEA); GO_0016324 (EC: IDA, PMID: 16928804); GO_0016324 (EC: ISS); GO_0031526 (EC: ISS); GO_0032880 (EC: ISS); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867); GO_1902358 (EC: TAS, PMID: 9398842); GO_1902476 (EC: TAS, PMID: 10192399) PMID: 8541853; 8630497; 8630498; 8706311; 9070918; 9398842; 9500541; 9618166; 9618167; 10190331; 10192399; 10602116; 10700480; 10718825; 10843192; 10878664; 11087667; 11274445; 11317356; 11375792; 11581495; 11716048; 11748854; 11834742; 11919333; 11932316; 12112665; 12676893; 12727855; 12727986; 12788906; 12853948; 12974744; 14508505; 14679580; 14715652; 15155570; 15279074; 15355436; 15531480; 15679828; 15689455; 15784681; 15905611; 16260428; 16260629; 16283880; 16570074; 16684826; 16928804; 17007371; 17309986; 17443271; 17503324; 17690912; 17697873; 17718863; 17766716; 17851929; 17854396; 17949297; 18067822; 18075246; 18167283; 18250610; 18274916; 18283249; 18285825; 18310264; 18316665; 18322141; 18335745; 18368581; 18424749; 18427006; 18585793; 18641360; 18641518; 18692402; 18710471; 18813951; 18988928; 19017801; 19027966; 19040761; 19050049; 19056867; 19196800; 19199245; 19204907; 19266817; 19287372; 19289392; 19426954; 19429184; 19509082; 19558834; 19578036; 19608655; 19615760; 19648736; 19673989; 19718752; 19730683; 19744334; 19786220; 19787632; 19954013; 19998422; 20056178; 20235449; 20301607; 20301640; 20359100; 20483489; 20553101; 20597900; 20601923; 20621367; 20668687; 20739942; 20826203; 20842945; 20857898; 20931531; 21035230; 21045265; 21154317; 21162657; 21174747; 21187047; 21366435; 21416585; 21757707; 21809555; 21814192; 21914796; 21961810; 22116356; 22116359; 22116360; 22285650; 22389666; 22412181; 22429511; 22444735; 22509691; 22551242; 22717225; 22750442; 22796198; 22884721; 22906308; 22918213; 22924538; 23151031; 23174149; 23185506; 23246836; 23273637; 23280318; 23385134; 23401162; 23452581; 23504402; 23638949; 23705809; 23743675; 23766534; 23770805; 23874234; 23965030; 24051746; 24248179 solute carrier family 26 (anion exchanger), member 4 Ensembl:ENSG00000091137 HGNC:8818 HPRD:05735 MIM:605646 Vega:OTTHUMG00000154807 Other designations: pendrin|sodium-independent chloride/iodide transporter|solute carrier family 26, member 4 SLC26A4 Bin Zhao, Yue Liu, Oliver He CAP70 CLAMP NHERF-3 NHERF3 PDZD1 WEB: http://www.ncbi.nlm.nih.gov/gene PDZK1 PDZ domain containing 1 5174 1q21 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005124 (EC: IEA); GO_0005215 (EC: TAS, PMID: 9461128); GO_0005515 (EC: IPI, PMID: 12471024); GO_0005737 (EC: IEA); GO_0005886 (EC: ISS); GO_0006810 (EC: IDA, PMID: 15523054); GO_0008283 (EC: TAS, PMID: 9461128); GO_0015879 (EC: IDA, PMID: 15523054); GO_0015893 (EC: NAS, PMID: 16738539); GO_0016324 (EC: IEA); GO_0030165 (EC: IPI, PMID: 16236806); GO_0031526 (EC: ISS); GO_0031528 (EC: IEA); GO_0032403 (EC: IEA); GO_0034767 (EC: IDA, PMID: 15523054); GO_0044070 (EC: ISS); GO_0045121 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867); GO_0090002 (EC: IEA); GO_0090314 (EC: ISS) PMID: 9461128; 9924606; 10496535; 10829064; 11051556; 11076863; 11099500; 12063253; 12119305; 12424224; 12471024; 12477932; 12615054; 12754212; 12837682; 14531806; 14551195; 14702039; 15215163; 15304510; 15489334; 15489336; 15494376; 15523054; 15553237; 15766278; 15767854; 15994332; 16012170; 16189514; 16192282; 16236806; 16381901; 16710414; 16738539; 17507652; 17602283; 17990980; 18029348; 18045536; 18403724; 18955051; 19056867; 19091402; 19173579; 19321583; 19421056; 19447883; 19503597; 19535329; 19861489; 19890391; 19913121; 20162742; 20162743; 20237154; 20628086; 20632170; 20855565; 20884846; 20949066; 21059598; 21183661; 21653824; 21832049; 22528496; 22696060; 23263486; 23457445; 23547718; 23821363 PDZ domain containing 1 Ensembl:ENSG00000174827 HGNC:8821 HPRD:04829 MIM:603831 Vega:OTTHUMG00000013735 Other designations: CFTR-associated protein of 70 kDa|Na(+)/H(+) exchange regulatory cofactor NHE-RF3|PDZ-containing kidney protein 1|na/Pi cotransporter C-terminal-associated protein 1|naPi-Cap1|sodium-hydrogen exchanger regulatory factor 3 PDZK1 Bin Zhao, Yue Liu, Oliver He CD31 CD31/EndoCAM GPIIA' PECA1 PECAM-1 endoCAM WEB: http://www.ncbi.nlm.nih.gov/gene PECAM1 platelet/endothelial cell adhesion molecule 1 5175 17q23.3 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0002576 (EC: TAS); GO_0005515 (EC: IPI, PMID: 10704309); GO_0005615 (EC: IDA, PMID: 9290466); GO_0005886 (EC: IDA, PMID: 17464107); GO_0005886 (EC: TAS); GO_0006909 (EC: IDA, PMID: 12110892); GO_0007155 (EC: IEA); GO_0007165 (EC: TAS, PMID: 7994021); GO_0007596 (EC: TAS); GO_0008037 (EC: TAS, PMID: 1690453); GO_0016021 (EC: IEA); GO_0030054 (EC: IEA); GO_0030168 (EC: TAS); GO_0030198 (EC: TAS); GO_0031092 (EC: TAS); GO_0050900 (EC: TAS); GO_0050904 (EC: IDA, PMID: 19342684); GO_0070062 (EC: IDA); GO_0072011 (EC: IEP, PMID: 17464107) PMID: 1690453; 1700999; 1874786; 2351935; 7994021; 8080982; 8226797; 8467233; 8532023; 8661055; 8876219; 8955189; 9054388; 9290466; 9298995; 9551996; 9620836; 9624175; 9774384; 9774457; 10091339; 10350061; 10425179; 10571959; 10655298; 10704309; 10801826; 10858437; 10982404; 11019910; 11056124; 11149921; 11250042; 11469534; 11719109; 11776680; 11791967; 11795274; 11927609; 11940533; 12027924; 12110892; 12127674; 12215337; 12378388; 12393634; 12393699; 12393747; 12397602; 12433657; 12468430; 12477932; 12552497; 12581968; 12610627; 12616538; 12646189; 12649141; 12651608; 12653580; 12658549; 12681475; 12689916; 12732396; 12775720; 12850829; 12893640; 12893767; 12915579; 14519385; 14566092; 14702039; 14754395; 14991534; 15048167; 15065759; 15196923; 15231748; 15249199; 15249221; 15265022; 15488875; 15489334; 15550032; 15550034; 15589815; 15592455; 15644126; 15668248; 15731036; 15753851; 15756041; 15908974; 15985432; 16002039; 16044920; 16169070; 16219692; 16308102; 16357318; 16426244; 16507710; 16518857; 16551678; 16681757; 16984283; 17068334; 17106245; 17113632; 17116209; 17130180; 17192395; 17194459; 17212705; 17348207; 17365855; 17429142; 17460171; 17464107; 17483704; 17509538; 17510564; 17580308; 17703412; 17704297; 17785788; 17922402; 17940969; 17954174; 18060625; 18182571; 18243211; 18301339; 18327914; 18388311; 18393439; 18519815; 18583570; 18672896; 18698258; 18710921; 18821037; 18848929; 18983521; 19055786; 19056482; 19183069; 19212205; 19236520; 19258923; 19306055; 19332487; 19342684; 19424605; 19570335; 19578796; 19661015; 19729601; 19850043; 19851296; 19897387; 19956559; 20051117; 20074345; 20173029; 20194726; 20198315; 20220571; 20369584; 20370486; 20400708; 20403098; 20403242; 20452482; 20470859; 20473646; 20485444; 20492609; 20503287; 20581150; 20589320; 20602615; 20631249; 20634489; 20673868; 20675279; 20712008; 20723025; 20724702; 20850712; 20864561; 21183735; 21190742; 21378988; 21486942; 21840193; 21898411; 22000807; 22109690; 22188988; 22189791; 22204709; 22213152; 22246909; 22336504; 22372906; 22395512; 22396143; 22456311; 22496122; 22717029; 22723439; 23106575; 23233201; 23264219; 23264403; 23308177; 23418871; 23494670; 23729443; 23737650; 24030383; 24081660; 24225899; 24388971 platelet/endothelial cell adhesion molecule 1 HGNC:8823 HPRD:01425 MIM:173445 Other designations: CD31 antigen|platelet endothelial cell adhesion molecule PECAM1 Bin Zhao, Yue Liu, Oliver He GDN GDNPF PI-7 PI7 PN-1 PN1 PNI WEB: http://www.ncbi.nlm.nih.gov/gene SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 5270 2q36.1 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0004867 (EC: IDA, PMID: 19249338); GO_0004867 (EC: IMP, PMID: 19855083); GO_0005102 (EC: IPI, PMID: 17379830); GO_0005515 (EC: IPI, PMID: 19911255); GO_0005539 (EC: IDA, PMID: 19855083); GO_0005576 (EC: IDA, PMID: 19855083); GO_0005615 (EC: IBA); GO_0005829 (EC: IDA, PMID: 19855083); GO_0007596 (EC: IEA); GO_0008201 (EC: IDA, PMID: 1939253); GO_0008285 (EC: IEA); GO_0010544 (EC: IEA); GO_0010757 (EC: IMP, PMID: 19855083); GO_0010766 (EC: IEA); GO_0010951 (EC: IBA); GO_0010955 (EC: IC, PMID: 19855083); GO_0014067 (EC: IEA); GO_0021683 (EC: IEA); GO_0030195 (EC: IC, PMID: 19855083); GO_0030195 (EC: IDA, PMID: 17379830); GO_0030308 (EC: IEA); GO_0030334 (EC: NAS, PMID: 2877744); GO_0031012 (EC: IDA, PMID: 3279057); GO_0031091 (EC: IDA, PMID: 19855083); GO_0031091 (EC: IMP, PMID: 19855083); GO_0031232 (EC: IDA, PMID: 19855083); GO_0031594 (EC: ISS, PMID: 2037625); GO_0032940 (EC: IEA); GO_0033363 (EC: IEA); GO_0042177 (EC: IEA); GO_0042628 (EC: IEA); GO_0045861 (EC: IDA, PMID: 17379830); GO_0045879 (EC: IEA); GO_0048505 (EC: IEA); GO_0048711 (EC: IDA, PMID: 1691280); GO_0050974 (EC: IEA); GO_0051966 (EC: IEA); GO_0060291 (EC: IEA); GO_0060384 (EC: IEA); GO_0061108 (EC: IEA); GO_0090331 (EC: ISS, PMID: 19855083) PMID: 1334458; 1691280; 1939253; 2037625; 2877744; 3279057; 3427015; 3997857; 7665170; 8006028; 8125298; 9184208; 11827452; 11925594; 12106474; 12356769; 12477932; 12859287; 15340161; 15489334; 16015279; 16085935; 16344560; 16358219; 16741952; 16921128; 17379830; 17446335; 17690329; 17703087; 17934860; 18550614; 18617644; 19017876; 19111454; 19249338; 19322201; 19439404; 19584287; 19604412; 19626039; 19789190; 19855083; 19911255; 19949669; 20035713; 20233420; 20298363; 20463177; 20525719; 20623540; 20805453; 20819545; 20881960; 20942929; 21067581; 21403095; 21426587; 21436250; 21611750; 21806836; 22028159; 22145704; 22331468; 22618708; 22863883; 23041623; 23385179; 23648065; 23661674; 24172014 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 Ensembl:ENSG00000135919 HGNC:8951 HPRD:01510 MIM:177010 Vega:OTTHUMG00000133163 Other designations: glia-derived nexin|glial-derived neurite promoting factor|peptidase inhibitor 7|protease nexin I|serpin E2 SERPINE2 Bin Zhao, Yue Liu, Oliver He T-PA TPA WEB: http://www.ncbi.nlm.nih.gov/gene PLAT plasminogen activator, tissue 5327 8p12 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0001666 (EC: IEA); GO_0004252 (EC: IDA, PMID: 1695900); GO_0004252 (EC: TAS); GO_0005515 (EC: IPI, PMID: 10340997); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0005737 (EC: IDA, PMID: 1632457); GO_0006464 (EC: TAS, PMID: 3087818); GO_0006508 (EC: TAS, PMID: 3087818); GO_0007596 (EC: TAS); GO_0009986 (EC: IDA, PMID: 1632457); GO_0014909 (EC: IEA); GO_0030141 (EC: IEA); GO_0031012 (EC: IDA, Qualifier: NOT, PMID: 1632457); GO_0031639 (EC: IDA, PMID: 12694198); GO_0035249 (EC: IEA); GO_0042730 (EC: TAS); GO_0043434 (EC: IEA); GO_0045177 (EC: IEA); GO_0045202 (EC: IEA); GO_0045861 (EC: IDA, PMID: 1695900); GO_0048008 (EC: IEA); GO_0048167 (EC: IEA); GO_0051384 (EC: IEA); GO_0051591 (EC: IEA); GO_0060279 (EC: IEA); GO_0070062 (EC: IDA) PMID: 1301152; 1310033; 1368681; 1502153; 1602484; 1632457; 1645336; 1695900; 1762144; 1783394; 1900431; 1901789; 1909331; 1930175; 2107490; 2107528; 2110366; 2496749; 2503541; 2513186; 2551064; 2558718; 2745554; 2838384; 2962641; 3009482; 3087818; 3088041; 3090045; 3090401; 3103680; 3126346; 3133640; 3161893; 3896853; 6089198; 6337343; 6433976; 6538514; 6538515; 6572897; 6682760; 7582899; 7586269; 7721771; 7876253; 8360181; 8366113; 8508955; 8533091; 8607113; 8613982; 9268299; 9305622; 9359841; 9434908; 9988531; 10340997; 10543954; 10632583; 10956663; 11170397; 11371191; 11384978; 11385207; 11450845; 11507973; 11734662; 11734664; 11816707; 11848437; 11858184; 11864703; 11864708; 11928812; 11928826; 11963567; 11978811; 11986218; 11988309; 12023848; 12090757; 12123488; 12167592; 12228252; 12354288; 12390834; 12445472; 12468550; 12468767; 12477932; 12484521; 12524082; 12544724; 12544772; 12589088; 12643326; 12694198; 12719777; 12719778; 12726991; 12727218; 12794725; 12891381; 12913003; 12941043; 14500731; 14529669; 14592829; 14608053; 14630788; 14697941; 14746139; 14759258; 14983221; 15016824; 15031453; 15080889; 15109703; 15116264; 15119966; 15140132; 15207811; 15269833; 15448144; 15466927; 15489334; 15541709; 15542697; 15550028; 15629242; 15652516; 15721275; 15846799; 15861134; 15869598; 15916851; 15976969; 16015279; 16037259; 16113755; 16179568; 16248996; 16320350; 16344560; 16356191; 16369808; 16385091; 16410064; 16466010; 16614319; 16706993; 16733850; 16828203; 16836660; 16839347; 16879221; 16953275; 17003923; 17064755; 17145060; 17151781; 17207964; 17257155; 17264956; 17287634; 17320454; 17408411; 17419735; 17458906; 17473573; 17608581; 17636064; 17649957; 17661167; 17681507; 17689414; 17934860; 17986506; 18023202; 18029284; 18029348; 18037995; 18057060; 18194423; 18202522; 18289715; 18321860; 18331597; 18419748; 18449420; 18468424; 18472001; 18541262; 18574075; 18629628; 18647223; 18662099; 18690354; 18714030; 18720901; 18818748; 18922856; 18945481; 18953568; 18974842; 18977990; 18983502; 19019335; 19061349; 19085655; 19088796; 19116134; 19171142; 19176991; 19217651; 19222708; 19238444; 19257978; 19290852; 19356953; 19483400; 19492158; 19513384; 19526059; 19527514; 19538480; 19578796; 19698976; 19718485; 19730683; 19874473; 19913121; 19929406; 19948975; 20097831; 20140262; 20217999; 20218002; 20409678; 20445443; 20447686; 20452482; 20472470; 20500107; 20508517; 20559098; 20628086; 20628624; 20673868; 20686427; 20811636; 20838737; 20845058; 21034162; 21082259; 21158116; 21174002; 21282301; 21304999; 21314733; 21392255; 21414238; 21437359; 21501649; 21576385; 21791417; 21848677; 21868730; 21898905; 21900343; 22027013; 22035541; 22037173; 22104068; 22178875; 22187433; 22240314; 22577291; 22610100; 22771216; 22778398; 22787391; 22957978; 23082219; 23117722; 23118500; 23161549; 23306318; 23317922; 23326456; 23423137; 23570848; 23788583; 23939410; 23959729; 24129569; 24145699 plasminogen activator, tissue Ensembl:ENSG00000104368 HGNC:9051 HPRD:01419 MIM:173370 Vega:OTTHUMG00000164072 Other designations: alteplase|plasminogen activator, tissue type|reteplase|t-plasminogen activator|tissue plasminogen activator (t-PA)|tissue-type plasminogen activator PLAT Bin Zhao, Yue Liu, Oliver He CD87 U-PAR UPAR URKR WEB: http://www.ncbi.nlm.nih.gov/gene PLAUR plasminogen activator, urokinase receptor 5329 19q13 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0004872 (EC: NAS, PMID: 1689240); GO_0005515 (EC: IPI, PMID: 11290596); GO_0005576 (EC: IEA); GO_0005788 (EC: TAS); GO_0005789 (EC: TAS); GO_0005886 (EC: TAS); GO_0005887 (EC: IEA); GO_0006501 (EC: TAS); GO_0006928 (EC: NAS, PMID: 1689240); GO_0006935 (EC: TAS, PMID: 10749881); GO_0007165 (EC: TAS, PMID: 10749881); GO_0007596 (EC: NAS, PMID: 8392005); GO_0007596 (EC: TAS); GO_0016021 (EC: NAS, PMID: 1689240); GO_0016255 (EC: TAS); GO_0019898 (EC: TAS, PMID: 8049431); GO_0019899 (EC: IPI, PMID: 14688365); GO_0030162 (EC: NAS, PMID: 1689240); GO_0030377 (EC: NAS, PMID: 1689240); GO_0031225 (EC: IEA); GO_0038195 (EC: NAS, PMID: 1689240); GO_0042730 (EC: TAS); GO_0043687 (EC: TAS); GO_0044267 (EC: TAS) PMID: 1311495; 1316922; 1324136; 1325912; 1689240; 1846368; 2156852; 2544876; 3023326; 3031025; 7566098; 7605992; 8049431; 8392005; 8394346; 8830783; 9030717; 9353320; 9417082; 9566979; 9974409; 10388537; 10537314; 10636902; 10722370; 10744708; 10749881; 11051819; 11097855; 11290596; 11359936; 11384978; 11501527; 11728456; 11756447; 11814408; 11903048; 11928806; 11928807; 11928816; 11928822; 11959893; 12017319; 12023845; 12023847; 12070711; 12084931; 12115506; 12124797; 12130664; 12138365; 12174885; 12180971; 12194987; 12195704; 12244126; 12297505; 12376466; 12393547; 12393744; 12405290; 12477932; 12479856; 12493773; 12665127; 12665524; 12704669; 12708473; 12736046; 12761227; 12881310; 12933356; 12952933; 12960238; 14500474; 14507113; 14517288; 14517339; 14520707; 14531820; 14563447; 14601049; 14602715; 14660675; 14688365; 14702177; 14729600; 14764427; 14764580; 14961171; 14995994; 15031282; 15031672; 15032076; 15042374; 15044324; 15057824; 15122709; 15182581; 15188055; 15243126; 15248186; 15285727; 15302576; 15326109; 15358545; 15375521; 15381392; 15489334; 15494432; 15494526; 15515049; 15521066; 15543615; 15573379; 15677461; 15684035; 15711734; 15728176; 15824107; 15831288; 15841307; 15849776; 15851910; 15861141; 15863511; 15866865; 15885322; 15889147; 15894933; 15922359; 15951330; 16010978; 16077991; 16127174; 16169070; 16216813; 16267271; 16395714; 16456079; 16467878; 16497155; 16504015; 16510444; 16516155; 16525631; 16564525; 16601839; 16602701; 16632475; 16685436; 16756681; 16858643; 16879932; 16893520; 16905120; 16912170; 16949925; 17001307; 17028265; 17079488; 17101149; 17145753; 17237151; 17264329; 17297470; 17319000; 17327908; 17330942; 17344041; 17427199; 17487556; 17507651; 17510314; 17517866; 17523079; 17548471; 17548516; 17549401; 17664334; 17706320; 17880283; 17952591; 17963689; 18021410; 18029284; 18048089; 18056417; 18084301; 18095109; 18097558; 18247343; 18257282; 18315930; 18328568; 18362146; 18376415; 18487955; 18508598; 18508599; 18511987; 18599586; 18644795; 18673553; 18691743; 18718938; 18725541; 18762175; 18788551; 18808175; 18813792; 18813852; 18819934; 18830568; 18940913; 18941116; 18949356; 18953252; 18954937; 18957516; 19008962; 19017363; 19020743; 19037107; 19050704; 19088796; 19115132; 19117638; 19123477; 19157142; 19176991; 19177204; 19298527; 19383607; 19403319; 19404710; 19411312; 19433314; 19435784; 19436306; 19443020; 19443353; 19461880; 19472211; 19475533; 19480010; 19497996; 19546228; 19609941; 19616049; 19635932; 19638192; 19642359; 19691446; 19693769; 19717562; 19740518; 19756998; 19782465; 19796867; 19878584; 19908229; 19913121; 20012874; 20051950; 20063318; 20140262; 20142364; 20145038; 20198323; 20237496; 20372789; 20403162; 20447686; 20452482; 20518747; 20558828; 20580686; 20624254; 20628086; 20628624; 20635136; 20648659; 20661471; 20673868; 20693875; 20696135; 20805979; 20840675; 20858596; 20886176; 20937265; 20967855; 20972812; 21060833; 21081472; 21088115; 21106094; 21106716; 21148633; 21181094; 21191179; 21224999; 21304107; 21354571; 21391216; 21419107; 21426933; 21456072; 21470667; 21470685; 21478092; 21544310; 21602447; 21630091; 21638078; 21702998; 21711960; 21744990; 21761413; 21799009; 21803847; 21804539; 21833477; 21840777; 21848504; 21896743; 21934527; 21945852; 22004682; 22025616; 22075245; 22098627; 22113150; 22119508; 22139533; 22177802; 22199285; 22287577; 22298164; 22363796; 22366462; 22459389; 22467324; 22470492; 22487523; 22577342; 22633212; 22702340; 22732587; 22782499; 22896701; 22906080; 22939629; 22984561; 23030781; 23033975; 23049759; 23076139; 23117033; 23136192; 23138488; 23150653; 23172421; 23180655; 23222509; 23222817; 23238745; 23327926; 23400595; 23408042; 23447064; 23486467; 23503679; 23512428; 23516493; 23541763; 23565268; 23667902; 23709605; 23736353; 23806081; 23835994; 23842190; 23843896; 23874017; 24249636; 24253546 plasminogen activator, urokinase receptor Ensembl:ENSG00000011422 HGNC:9053 HPRD:01421 MIM:173391 Vega:OTTHUMG00000182778 Other designations: monocyte activation antigen Mo3|u-plasminogen activator receptor form 2|urokinase plasminogen activator surface receptor|urokinase-type plasminogen activator (uPA) receptor PLAUR Bin Zhao, Yue Liu, Oliver He A2AP AAP ALPHA-2-PI API PLI WEB: http://www.ncbi.nlm.nih.gov/gene SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 5345 17p13 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0002020 (EC: IPI, PMID: 134998); GO_0002034 (EC: ISS); GO_0002576 (EC: TAS); GO_0004866 (EC: TAS, PMID: 2830248); GO_0004867 (EC: IBA); GO_0004867 (EC: IDA, PMID: 134998); GO_0004867 (EC: NAS, PMID: 12878203); GO_0005515 (EC: IPI, PMID: 12878203); GO_0005576 (EC: NAS, PMID: 14718574); GO_0005576 (EC: TAS); GO_0005577 (EC: IDA, PMID: 17317851); GO_0005615 (EC: IBA); GO_0005615 (EC: IDA, PMID: 6980881); GO_0006953 (EC: IEA); GO_0007596 (EC: TAS); GO_0009986 (EC: IDA, PMID: 17958745); GO_0010033 (EC: IEA); GO_0010757 (EC: IDA, PMID: 134998); GO_0010951 (EC: IBA); GO_0030162 (EC: IBA); GO_0030168 (EC: TAS); GO_0030199 (EC: ISS, PMID: 17958745); GO_0031093 (EC: TAS); GO_0032967 (EC: IDA, PMID: 17958745); GO_0042730 (EC: TAS); GO_0042803 (EC: IPI, PMID: 134998); GO_0045597 (EC: IDA); GO_0045944 (EC: IDA, PMID: 17958745); GO_0046330 (EC: IDA); GO_0048514 (EC: ISS); GO_0048661 (EC: ISS); GO_0051496 (EC: IDA); GO_0051918 (EC: IDA, PMID: 134998); GO_0070374 (EC: IDA); GO_0071636 (EC: IDA, PMID: 17958745); GO_0072562 (EC: IDA); GO_2000049 (EC: TAS, PMID: 17203182) PMID: 21075; 134998; 158022; 1385210; 1577485; 2433286; 2434496; 2437112; 2440681; 2456616; 2572590; 2830248; 2958938; 3166140; 3334852; 3416655; 3818581; 6980881; 7095605; 7306699; 7873202; 8484741; 8611456; 8624776; 8647939; 8703832; 8889548; 9042371; 9169621; 9368023; 9428387; 10570951; 10583218; 10671537; 10958788; 10963790; 11074138; 11604408; 12080056; 12477932; 12549929; 12621583; 12878203; 12911586; 14687906; 14718574; 14751930; 15853774; 16335952; 16828203; 17203182; 17317851; 17388801; 17883703; 17890952; 17958745; 17961166; 18029348; 18048863; 18550704; 19073825; 19492163; 19691486; 19913121; 20071328; 20112045; 20553378; 20628086; 20705733; 21251197; 21471521; 21486949; 21505192; 21543325; 21707521; 21988832; 22205503; 23022100; 23750785; 23992406; 24068962; 24172014 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 Ensembl:ENSG00000167711 HGNC:9075 HPRD:02029 MIM:613168 Vega:OTTHUMG00000090552 Other designations: alpha-2-AP|alpha-2-antiplasmin|alpha-2-plasmin inhibitor|serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2|serpin F2 SERPINF2 Bin Zhao, Yue Liu, Oliver He Gp200 PC PCLP PCLP-1 WEB: http://www.ncbi.nlm.nih.gov/gene PODXL podocalyxin-like 5420 7q32-q33 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0001726 (EC: IDA, PMID: 18456258); GO_0005515 (EC: IPI); GO_0005737 (EC: IDA, PMID: 18456258); GO_0005886 (EC: IDA, PMID: 18456258); GO_0005887 (EC: TAS, PMID: 9188463); GO_0007155 (EC: IEA); GO_0007162 (EC: ISS); GO_0016324 (EC: ISS); GO_0016477 (EC: ISS); GO_0022408 (EC: ISS); GO_0030027 (EC: IDA, PMID: 18456258); GO_0030175 (EC: IDA, PMID: 18456258); GO_0030335 (EC: IDA, PMID: 18456258); GO_0031528 (EC: ISS); GO_0032534 (EC: ISS); GO_0033634 (EC: IDA, PMID: 18456258); GO_0036057 (EC: ISS); GO_0044297 (EC: IEA); GO_0045121 (EC: IEA); GO_0050900 (EC: IEA); GO_0070062 (EC: IDA, PMID: 15326289); GO_0072015 (EC: ISS); GO_0072175 (EC: ISS) PMID: 8125298; 9188463; 9339384; 9625756; 10737800; 11457882; 11997330; 12477932; 12504081; 12690205; 12874460; 14702039; 15146197; 15226400; 15289306; 15326289; 15342556; 15642748; 16434482; 16684343; 17124010; 17137615; 17311105; 17616675; 17719804; 18029348; 18313397; 18356574; 18456258; 18818395; 19118161; 19605546; 20395446; 20599725; 20628624; 21139048; 21319273; 21383689; 21390327; 21616097; 21655212; 21829192; 21890473; 21906983; 21963094; 21987572; 22262060; 22374871; 22700887; 22769594; 22814396; 23288345; 23396057; 23526252; 23652315 podocalyxin-like Ensembl:ENSG00000128567 HGNC:9171 HPRD:04025 MIM:602632 Other designations: GCTM-2 antigen|podocalyxin|podocalyxin-like protein 1 PODXL Bin Zhao, Yue Liu, Oliver He BOB1 OBF-1 OBF1 OCAB WEB: http://www.ncbi.nlm.nih.gov/gene POU2AF1 POU class 2 associating factor 1 5450 11q23.1 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0003677 (EC: IEA); GO_0003712 (EC: TAS, PMID: 7859290); GO_0003713 (EC: TAS, PMID: 7859290); GO_0005515 (EC: IPI, PMID: 11483518); GO_0005634 (EC: IEA); GO_0006355 (EC: IEA); GO_0006366 (EC: TAS, PMID: 7859290); GO_0006959 (EC: TAS, PMID: 7859290) PMID: 7623806; 7779176; 7859290; 8574789; 8617501; 9211847; 9418884; 9442392; 9632764; 9819426; 10541551; 11136971; 11380252; 11483517; 11483518; 11907094; 12230975; 12477932; 12672812; 12727885; 14515270; 14552839; 14662861; 15489334; 15672409; 15796964; 16713566; 16934875; 17785371; 18695675; 18753146; 19913121; 20102401; 20141429; 20211142; 20628086; 20659471; 21424034; 21549311; 21905497; 23000144; 23291589; 24005100 POU class 2 associating factor 1 Ensembl:ENSG00000110777 HGNC:9211 HPRD:03126 MIM:601206 Vega:OTTHUMG00000166659 Other designations: B-cell-specific coactivator OBF-1|BOB-1|OCA-B|OCT-binding factor 1|POU domain class 2-associating factor 1|POU domain, class 2, associating factor 1 POU2AF1 Bin Zhao, Yue Liu, Oliver He B-TG1 Beta-TG CTAP-III CTAP3 CTAPIII CXCL7 LA-PF4 LDGF MDGF NAP-2 PBP SCYB7 TC1 TC2 TGB TGB1 THBGB THBGB1 WEB: http://www.ncbi.nlm.nih.gov/gene PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) 5473 4q12-q13 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0002576 (EC: TAS); GO_0005355 (EC: TAS, PMID: 4005226); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0006955 (EC: IEA); GO_0007596 (EC: TAS); GO_0008009 (EC: IEA); GO_0008083 (EC: IEA); GO_0015758 (EC: TAS, PMID: 4005226); GO_0030168 (EC: TAS); GO_0031093 (EC: TAS); GO_0042742 (EC: IEA); GO_0051781 (EC: IEA) PMID: 47244; 77677; 426909; 1316786; 1387511; 1427896; 1826003; 1830861; 1837963; 1873479; 2007144; 2406364; 2423119; 2522778; 2713489; 2783111; 2834384; 2966071; 4005226; 6183294; 6572368; 7706245; 7890771; 8034022; 8051099; 8195702; 8580362; 8702798; 8950790; 9725262; 9794434; 10049766; 10343098; 10419831; 10764593; 10877842; 11167759; 11468158; 12193731; 12297130; 12477932; 12665801; 12878486; 14673015; 15115243; 15174051; 15316029; 15340161; 15489334; 15815621; 16169070; 16317101; 16344560; 16391012; 16712791; 16806233; 16807663; 17045893; 17192395; 17220270; 17700216; 17703412; 18240029; 18577758; 18632422; 18707017; 18797178; 19258923; 19913121; 20224257; 20237496; 20503287; 20510637; 20628086; 21442287; 21900206; 21988832; 22101183; 22740477; 22916037; 22939812; 23052484; 23619231 pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) HGNC:9240 HPRD:07171 MIM:121010 Other designations: C-X-C motif chemokine 7|CXC chemokine ligand 7|beta-thromboglobulin|connective tissue-activating peptide III|leukocyte-derived growth factor|low-affinity platelet factor IV|macrophage-derived growth factor|neutrophil-activating peptide 2|neutrophil-activating peptide-2|platelet basic protein|small inducible cytokine B7|small inducible cytokine subfamily B, member 7|small-inducible cytokine B7|thrombocidin 1|thrombocidin 2|thromboglobulin, beta-1 PPBP Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene PROX1 prospero homeobox 1 5629 1q41 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0000122 (EC: IDA, PMID: 15205472); GO_0001709 (EC: IEA); GO_0001822 (EC: IEP, PMID: 8812486); GO_0001889 (EC: IEP, PMID: 11789987); GO_0001938 (EC: IDA, PMID: 19210544); GO_0001946 (EC: IDA, PMID: 12412020); GO_0002088 (EC: IEP, PMID: 8812486); GO_0002194 (EC: IEA); GO_0003677 (EC: IMP, PMID: 18815287); GO_0003700 (EC: IC, PMID: 19210544); GO_0003705 (EC: ISS); GO_0003714 (EC: IDA, PMID: 15143342); GO_0005515 (EC: IPI, PMID: 18815287); GO_0005634 (EC: IDA, PMID: 11850194); GO_0005737 (EC: IDA, PMID: 11850194); GO_0007420 (EC: IEP, PMID: 8812486); GO_0008284 (EC: IDA, PMID: 12198161); GO_0008285 (EC: IMP, PMID: 17062673); GO_0010468 (EC: IDA, PMID: 12198161); GO_0010595 (EC: IDA, PMID: 19210544); GO_0016922 (EC: IPI, PMID: 15143342); GO_0021516 (EC: ISS, PMID: 11789987); GO_0021542 (EC: ISS); GO_0021707 (EC: ISS); GO_0021915 (EC: ISS, PMID: 11789987); GO_0030240 (EC: ISS); GO_0030324 (EC: IEP, PMID: 8812486); GO_0030910 (EC: ISS, PMID: 11789987); GO_0031016 (EC: IEP, PMID: 11789987); GO_0031667 (EC: IEA); GO_0043049 (EC: ISS, PMID: 11789987); GO_0043433 (EC: IDA, PMID: 15205472); GO_0043565 (EC: IEA); GO_0044212 (EC: IDA, PMID: 19210544); GO_0045071 (EC: IDA, PMID: 19264593); GO_0045737 (EC: IDA, PMID: 19210544); GO_0045787 (EC: ISS); GO_0045892 (EC: IDA, PMID: 15143342); GO_0045892 (EC: IMP, PMID: 16488887); GO_0045893 (EC: IMP, PMID: 18815287); GO_0045944 (EC: IEA); GO_0046619 (EC: ISS, PMID: 11850194); GO_0048845 (EC: ISS); GO_0050692 (EC: IPI, PMID: 15205472); GO_0050693 (EC: IPI, PMID: 15143342); GO_0055005 (EC: ISS); GO_0055009 (EC: ISS); GO_0055010 (EC: ISS); GO_0060042 (EC: ISS, PMID: 11789987); GO_0060059 (EC: IEP, PMID: 12692551); GO_0060214 (EC: ISS); GO_0060298 (EC: ISS); GO_0060412 (EC: ISS); GO_0060414 (EC: ISS); GO_0060421 (EC: ISS); GO_0060836 (EC: IDA, PMID: 12198161); GO_0060849 (EC: IMP, PMID: 18815287); GO_0070309 (EC: IEP, PMID: 11850194); GO_0070365 (EC: IEP, PMID: 15232737); GO_0070858 (EC: IMP, PMID: 16488887); GO_0072574 (EC: IEA); GO_0097150 (EC: ISS); GO_1901978 (EC: IEA); GO_2000179 (EC: ISS); GO_2000979 (EC: ISS) PMID: 8812486; 10080188; 11069920; 11719431; 11789987; 11850194; 11943779; 12060670; 12198161; 12412020; 12477932; 12692551; 12874782; 15143342; 15205472; 15232737; 15604093; 16308102; 16344560; 16488887; 16525637; 17062673; 17069925; 17217617; 17415710; 17533110; 17761831; 18400094; 18455124; 18564921; 18580962; 18815287; 18948102; 19160541; 19210544; 19264593; 19339011; 19460752; 19706680; 19825936; 19901262; 19940551; 20064070; 20081858; 20084020; 20185807; 20211142; 20351309; 20419449; 20453716; 20490451; 20571754; 20889853; 20975337; 21103350; 21452064; 21500548; 21667034; 21970873; 21988832; 22023334; 22067331; 22382784; 22508481; 22532251; 22539871; 22581228; 22647876; 22719258; 22733308; 22805777; 22833470; 22982861; 22984506; 22992776; 23045246; 23059885; 23274905; 23291986; 23345397; 23395615; 23505027; 23626788; 23718855; 23818313; 23898075 prospero homeobox 1 Other designations: homeobox prospero-like protein PROX1|prospero homeobox protein 1|prospero-related homeobox 1 PROX1 Bin Zhao, Yue Liu, Oliver He HARP HBGF8 HBNF NEGF1 WEB: http://www.ncbi.nlm.nih.gov/gene PTN pleiotrophin 5764 7q33 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0004864 (EC: TAS, PMID: 10706604); GO_0005615 (EC: TAS, PMID: 10706604); GO_0005783 (EC: IDA); GO_0007185 (EC: TAS, PMID: 10706604); GO_0007399 (EC: TAS, PMID: 2270483); GO_0007612 (EC: IEA); GO_0008083 (EC: IEA); GO_0008201 (EC: IEA); GO_0008284 (EC: TAS, PMID: 2270483); GO_0030282 (EC: IEA); GO_0043086 (EC: TAS, PMID: 10706604); GO_0051781 (EC: IEA) PMID: 1457401; 1464612; 1701634; 1733956; 1768439; 2270483; 2388713; 7592855; 8175719; 8408430; 8484754; 8484780; 8567685; 8889548; 9299545; 9507007; 9739080; 10224041; 10600521; 10706604; 11016659; 11076863; 11256614; 11278720; 11809760; 11895915; 11936877; 12477932; 12690205; 14692702; 14715276; 15001987; 15108072; 15184074; 15383276; 15489334; 15489336; 15684595; 15797857; 15840658; 15908427; 15924335; 15949466; 15986444; 16156786; 16169070; 16199533; 16373346; 16381901; 16513091; 16713569; 16814777; 16940294; 16985521; 17067552; 17098867; 17360581; 17368428; 17369488; 17443289; 17515817; 17578909; 17607711; 17681947; 17727841; 17823238; 17881084; 17904822; 17908800; 17925408; 18381592; 18486628; 18599487; 18716876; 19058221; 19060246; 19086053; 19331172; 19333097; 19424734; 19453261; 19577542; 19672298; 19749796; 19917672; 20013808; 20032204; 20167557; 20308059; 20379614; 20584902; 20738847; 20812209; 20873783; 21353611; 21881556; 21900206; 21988832; 22672269; 22783964; 22848377; 22871361; 23054143; 23056589; 23455922; 23481101; 23777859 pleiotrophin Ensembl:ENSG00000105894 HGNC:9630 HPRD:01199 MIM:162095 Vega:OTTHUMG00000155709 Other designations: HB-GAM|HBBM|HBGF-8|HBNF-1|OSF-1|heparin affin regulatory protein|heparin binding growth factor 8|heparin-binding brain mitogen|heparin-binding growth factor 8|heparin-binding growth-associated molecule|heparin-binding neurite outgrowth-promoting factor 1|neurite growth-promoting factor 1|osteoblast-specific factor 1|pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1) PTN Bin Zhao, Yue Liu, Oliver He B220 CD45 CD45R GP180 L-CA LCA LY5 T200 WEB: http://www.ncbi.nlm.nih.gov/gene PTPRC protein tyrosine phosphatase, receptor type, C 5788 RP11-553K8.4 1q31-q32 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001915 (EC: ISS); GO_0001960 (EC: ISS); GO_0002244 (EC: IMP); GO_0002378 (EC: IMP, PMID: 1793833); GO_0004725 (EC: IDA, PMID: 2853967); GO_0005001 (EC: TAS, PMID: 2845400); GO_0005515 (EC: IPI, PMID: 10369126); GO_0005886 (EC: TAS); GO_0005887 (EC: ISS); GO_0005925 (EC: ISS); GO_0006469 (EC: IDA, PMID: 9197241); GO_0006469 (EC: ISS); GO_0006470 (EC: ISS); GO_0006933 (EC: IMP); GO_0007166 (EC: TAS, PMID: 2845400); GO_0007411 (EC: TAS); GO_0009897 (EC: IDA, PMID: 17213291); GO_0016311 (EC: ISS); GO_0019901 (EC: IPI, PMID: 14625311); GO_0030217 (EC: ISS); GO_0030890 (EC: IMP, PMID: 1793833); GO_0035335 (EC: IDA, PMID: 2853967); GO_0035335 (EC: TAS, PMID: 2845400); GO_0042100 (EC: ISS); GO_0042102 (EC: ISS); GO_0044770 (EC: IMP, PMID: 1793833); GO_0045121 (EC: IEA); GO_0045860 (EC: NAS, PMID: 15275963); GO_0048539 (EC: IMP); GO_0048864 (EC: IMP); GO_0050852 (EC: IDA, PMID: 10358156); GO_0050852 (EC: TAS); GO_0050853 (EC: ISS); GO_0050857 (EC: ISS); GO_0051209 (EC: ISS); GO_0051607 (EC: ISS); GO_0051726 (EC: ISS); GO_0070062 (EC: IDA, PMID: 12519789); GO_2000473 (EC: IMP); GO_2000648 (EC: IMP) PMID: 1355979; 1373652; 1648262; 1655467; 1680916; 1695146; 1793833; 1834739; 1970422; 1976695; 2169617; 2524382; 2531281; 2550143; 2824653; 2845400; 2853967; 2956090; 2971730; 7516335; 7526385; 7537381; 7539755; 7737297; 7961877; 8157290; 8473339; 8537410; 8557683; 8570203; 8576115; 8663450; 8703037; 8955171; 8980254; 9148925; 9197241; 9368621; 9403695; 9535845; 9573028; 9624153; 9973453; 10066810; 10228003; 10229804; 10330160; 10358156; 10369126; 10415030; 10473580; 10490978; 10683443; 10700239; 10702677; 10921916; 11101853; 11145714; 11201744; 11254687; 11369760; 11528386; 11548742; 11551930; 11564800; 11778694; 11804554; 11827988; 11841494; 11862398; 11877294; 11909961; 11975983; 11994288; 12008046; 12022705; 12028593; 12073144; 12100025; 12147336; 12354383; 12376545; 12386161; 12393728; 12430875; 12477932; 12499376; 12519755; 12519789; 12556471; 12560083; 12574355; 12589038; 12589045; 12595907; 12618866; 12626536; 12633939; 12716971; 12820694; 12864992; 12880639; 14525771; 14565647; 14625311; 14631169; 14636588; 14641523; 14684825; 14726805; 14979481; 14983037; 15014144; 15018649; 15057492; 15085197; 15214936; 15231748; 15240561; 15275963; 15302935; 15314282; 15333587; 15548260; 15584483; 15603882; 15624328; 15626731; 15684325; 15687496; 15808544; 15946252; 15960938; 15963758; 16172127; 16247487; 16269626; 16332974; 16341674; 16344560; 16360841; 16378074; 16393978; 16503409; 16505159; 16524887; 16538473; 16857986; 16955142; 16998493; 16999868; 17122895; 17172930; 17213291; 17242371; 17378731; 17524482; 17591854; 17635802; 17656643; 17692374; 17803443; 17823079; 17897956; 18029348; 18157742; 18174230; 18292296; 18312479; 18511809; 18634151; 18669861; 18680516; 18719244; 18840711; 18992193; 19059880; 19111528; 19167335; 19246294; 19332764; 19454697; 19481264; 19546439; 19585516; 19635795; 19850743; 19879912; 19898481; 20093141; 20119835; 20139978; 20156100; 20164196; 20191119; 20231690; 20309874; 20505149; 20932480; 21054833; 21067564; 21106704; 21179414; 21278234; 21507955; 21599592; 21768350; 21818290; 21890473; 21952639; 21952740; 22171268; 22174689; 22268729; 22386990; 22438252; 22458809; 22505724; 22524693; 22606231; 22689986; 22783574; 22821963; 22937208; 23065155; 23206327; 23394998; 23396948; 23733486; 23747721; 24211716; 24211831; 24231767 protein tyrosine phosphatase, receptor type, C Ensembl:ENSG00000081237 HGNC:9666 HPRD:01050 MIM:151460 Vega:OTTHUMG00000035702 Other designations: CD45 antigen|T200 glycoprotein|T200 leukocyte common antigen|protein tyrosine phosphatase, receptor type, c polypeptide|receptor-type tyrosine-protein phosphatase C PTPRC Bin Zhao, Yue Liu, Oliver He HPTPZ HPTPzeta PTP-ZETA PTP18 PTPRZ PTPZ R-PTP-zeta-2 RPTPB RPTPbeta phosphacan WEB: http://www.ncbi.nlm.nih.gov/gene PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 5803 7q31.3 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0004725 (EC: ISS); GO_0005001 (EC: TAS, PMID: 1323835); GO_0005515 (EC: IPI, PMID: 17681947); GO_0005578 (EC: IEA); GO_0005887 (EC: TAS, PMID: 8387522); GO_0006470 (EC: TAS, PMID: 1323835); GO_0007409 (EC: IEA); GO_0007417 (EC: TAS, PMID: 8387522); GO_0007611 (EC: ISS); GO_0035335 (EC: ISS); GO_0048709 (EC: ISS); GO_0070445 (EC: ISS); GO_0072534 (EC: IEA) PMID: 1323835; 2169617; 2170109; 7736789; 8387522; 9441757; 9507007; 9653645; 9847074; 10212223; 10521598; 10706604; 11381105; 11520897; 11707406; 12355066; 12477932; 12690205; 12700241; 14555979; 15523497; 15797857; 15833863; 15908427; 15925565; 15998549; 16105548; 16335952; 16338072; 16344560; 16513268; 16814777; 17030583; 17098867; 17368428; 17579610; 17681947; 17706593; 17727841; 17823238; 18003890; 18186075; 18713734; 18838383; 19058221; 19141530; 19167335; 19604403; 20133774; 20201926; 20224786; 20738847; 21454675; 21890632; 21969550; 22682003; 22832403; 23060448; 23100427; 23170925; 23226095; 23744080; 23777859 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 Ensembl:ENSG00000106278 HGNC:9685 HPRD:01481 MIM:176891 Vega:OTTHUMG00000157057 Other designations: protein tyrosine phosphatase, receptor-type, zeta polypeptide 1|protein-tyrosine phosphatase receptor type Z polypeptide 2|receptor-type tyrosine phosphatase beta/zeta|receptor-type tyrosine-protein phosphatase zeta PTPRZ1 Bin Zhao, Yue Liu, Oliver He RAP1GA1 RAP1GAP1 RAP1GAPII RAPGAP WEB: http://www.ncbi.nlm.nih.gov/gene RAP1GAP RAP1 GTPase activating protein 5909 RP11-63N8.1 1p36.1-p35 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0000139 (EC: IEA); GO_0003924 (EC: NAS, PMID: 10476970); GO_0005096 (EC: TAS, PMID: 1904317); GO_0005515 (EC: IPI, PMID: 18309292); GO_0005829 (EC: IDA, PMID: 10476970); GO_0005829 (EC: TAS); GO_0006184 (EC: NAS, PMID: 10476970); GO_0007165 (EC: NAS, PMID: 10476970); GO_0016020 (EC: IDA, PMID: 10476970); GO_0017016 (EC: IPI, PMID: 18309292); GO_0032318 (EC: IDA, PMID: 18309292); GO_0032854 (EC: IDA, PMID: 15141215); GO_0042803 (EC: IPI, PMID: 18309292); GO_0046582 (EC: IDA, PMID: 15141215) PMID: 1406653; 1904317; 8275700; 8939933; 9346962; 9455484; 10476970; 10593970; 10854065; 11278445; 12082090; 12171996; 12198116; 12464615; 12477932; 12590145; 12842888; 12891710; 14607972; 14660640; 15141215; 15254236; 15342556; 15479739; 15657046; 15725075; 16169070; 16341674; 16424023; 16436672; 17300802; 17646383; 17954608; 18029348; 18309292; 18483282; 18551404; 18940312; 19066305; 19074885; 19147557; 19433443; 19549374; 20124489; 20439492; 20467438; 21460216; 21532618; 21633110; 21785277; 21832044; 21900206; 22266190; 22614916; 22696507; 23864657; 24457600 RAP1 GTPase activating protein Ensembl:ENSG00000076864 HGNC:9858 HPRD:02609 MIM:600278 Vega:OTTHUMG00000007513 Other designations: rap1 GTPase-activating protein 1 RAP1GAP Bin Zhao, Yue Liu, Oliver He CRABP-I CRBP CRBP1 CRBPI RBPC WEB: http://www.ncbi.nlm.nih.gov/gene RBP1 retinol binding protein 1, cellular 5947 3q23 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0001523 (EC: TAS); GO_0005215 (EC: IEA); GO_0005501 (EC: TAS, PMID: 3472205); GO_0005829 (EC: TAS); GO_0006776 (EC: TAS, PMID: 3472205); GO_0007603 (EC: TAS); GO_0016918 (EC: IEA); GO_0019841 (EC: IEA) PMID: 1322170; 1332671; 1654334; 2856408; 2992469; 3356192; 3472205; 7556191; 7666002; 8889548; 9005841; 9452451; 9858824; 10203351; 11118440; 11274389; 12111198; 12477932; 12631600; 12826154; 12883492; 15009723; 15094224; 15175163; 15451426; 15608670; 15865448; 16479010; 17593084; 18193082; 18343808; 19052772; 19288010; 19819239; 19913121; 19965581; 20403997; 20628086; 21042705; 21067480; 21139048; 21148318; 21368206; 21382444; 21988832; 22049223; 22449228; 22945948; 23414180 retinol binding protein 1, cellular Ensembl:ENSG00000114115 HGNC:9919 HPRD:07036 MIM:180260 Vega:OTTHUMG00000155751 Other designations: CRBP-I|cellular retinol-binding protein I|retinol-binding protein 1|retinol-binding protein 1, cellular RBP1 Bin Zhao, Yue Liu, Oliver He RDCCAS WEB: http://www.ncbi.nlm.nih.gov/gene RBP4 retinol binding protein 4, plasma 5950 PRO2222 10q23.33 20140408 9606 10 protein-coding Official from a nomenclature committee GO_0001523 (EC: TAS); GO_0001654 (EC: IMP, PMID: 10232633); GO_0001654 (EC: ISS); GO_0005515 (EC: IPI, PMID: 12228058); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 17003346); GO_0005615 (EC: ISS); GO_0005829 (EC: TAS); GO_0006094 (EC: IMP, PMID: 18466349); GO_0006094 (EC: ISS); GO_0007283 (EC: IEA); GO_0007507 (EC: ISS); GO_0007603 (EC: TAS); GO_0008584 (EC: IEA); GO_0016918 (EC: IEA); GO_0019841 (EC: IDA, PMID: 571335); GO_0030277 (EC: IDA, PMID: 10944490); GO_0030324 (EC: ISS); GO_0032024 (EC: IMP, PMID: 16034410); GO_0032526 (EC: IDA, PMID: 571335); GO_0032868 (EC: IEA); GO_0034632 (EC: IC, PMID: 571335); GO_0034633 (EC: IC, PMID: 571335); GO_0042572 (EC: IMP, PMID: 10232633); GO_0042574 (EC: IEA); GO_0042593 (EC: IDA, PMID: 17003346); GO_0043234 (EC: IEA); GO_0045471 (EC: IEA); GO_0046982 (EC: IEA); GO_0048562 (EC: ISS); GO_0048706 (EC: ISS); GO_0048738 (EC: ISS); GO_0048807 (EC: ISS); GO_0050908 (EC: IEA); GO_0051024 (EC: ISS); GO_0060044 (EC: ISS); GO_0060059 (EC: ISS); GO_0060065 (EC: ISS); GO_0060068 (EC: ISS); GO_0060157 (EC: ISS); GO_0060347 (EC: ISS); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 571335; 573217; 574085; 986177; 1623143; 2217163; 2444024; 2928844; 2998779; 3013795; 3525470; 3559267; 5132677; 6316270; 6540172; 6942701; 7666002; 8089102; 9888420; 10052934; 10232633; 10944490; 11058747; 11853533; 12228058; 12237133; 12477932; 12593674; 12716133; 14718574; 15009723; 15164054; 15489334; 15649951; 16034410; 16156801; 16385451; 17003346; 17006670; 17065684; 17164313; 17174134; 17259477; 17299074; 17337499; 17405846; 17456573; 17526940; 17550959; 17568782; 17575262; 17595259; 17618858; 17630267; 17639305; 17661007; 17686833; 17728376; 17890490; 17904683; 17957146; 18029348; 18052678; 18081728; 18199128; 18239568; 18316031; 18381580; 18390799; 18397979; 18426814; 18426837; 18426863; 18437353; 18445670; 18466349; 18492757; 18493106; 18496666; 18506842; 18588869; 18624398; 18641048; 18710473; 18719670; 18752671; 18782570; 18783798; 18796616; 18838136; 18852328; 18854400; 18937078; 18973209; 18977339; 18980783; 19003725; 19021760; 19023195; 19046959; 19053019; 19056867; 19088257; 19114616; 19122345; 19147488; 19155083; 19158194; 19169049; 19190263; 19195734; 19217438; 19224430; 19287041; 19288010; 19303000; 19339013; 19346786; 19369430; 19403191; 19501859; 19501863; 19506831; 19525859; 19537932; 19556974; 19573524; 19589139; 19671994; 19708829; 19709697; 19765959; 19766271; 19794289; 19820404; 19851303; 19857477; 19875582; 19893506; 19897788; 19900011; 19949653; 20058618; 20097162; 20146659; 20224248; 20233518; 20376890; 20389103; 20436266; 20503483; 20530491; 20610143; 20625434; 20646597; 20798476; 20819415; 20849357; 20929509; 20932285; 20950077; 21039728; 21085476; 21104585; 21106915; 21164503; 21173508; 21176857; 21223811; 21299359; 21383997; 21406189; 21458418; 21600576; 21609194; 21617096; 21645024; 21655067; 21741059; 21817822; 21821833; 21835764; 21878437; 21886308; 21939650; 22020625; 22023042; 22068556; 22086013; 22151390; 22205567; 22253430; 22308028; 22308842; 22397743; 22426023; 22491740; 22685600; 22785609; 22800884; 22826435; 22855337; 22863748; 22878527; 22971483; 23020231; 23071093; 23073835; 23074124; 23087360; 23105095; 23119072; 23129325; 23145084; 23153527; 23189188; 23242471; 23350588; 23418565; 23420326; 23460908; 23480783; 23571154; 23584360; 23708710; 23734806; 23799122 retinol binding protein 4, plasma Ensembl:ENSG00000138207 HGNC:9922 HPRD:01580 MIM:180250 Vega:OTTHUMG00000018773 Other designations: PRBP|RBP|plasma retinol-binding protein|retinol-binding protein 4|retinol-binding protein 4, interstitial RBP4 Bin Zhao, Yue Liu, Oliver He HNFJ2 WEB: http://www.ncbi.nlm.nih.gov/gene REN renin 5972 1q32 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001822 (EC: IMP, PMID: 16116425); GO_0001823 (EC: IEA); GO_0002003 (EC: IDA, PMID: 12045255); GO_0002003 (EC: TAS); GO_0002018 (EC: IEA); GO_0004190 (EC: EXP); GO_0004190 (EC: IDA, PMID: 12045255); GO_0005102 (EC: IPI, PMID: 12045255); GO_0005159 (EC: IEA); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 12045255); GO_0005622 (EC: IEA); GO_0005886 (EC: TAS); GO_0006508 (EC: IDA, PMID: 12045255); GO_0008217 (EC: TAS, PMID: 7584914); GO_0008233 (EC: IDA, PMID: 12045255); GO_0008584 (EC: IEA); GO_0009755 (EC: IEA); GO_0032496 (EC: IEA); GO_0035690 (EC: IEA); GO_0042756 (EC: IEA); GO_0043408 (EC: IDA, PMID: 12045255); GO_0044267 (EC: TAS); GO_0048469 (EC: IEA); GO_0050435 (EC: IEA); GO_0051591 (EC: IEA); GO_0070305 (EC: IEA) PMID: 1597471; 1608447; 2016271; 2017226; 2061332; 2186807; 2203348; 2450565; 2493678; 2540188; 2960682; 3032746; 3066525; 3288503; 3297510; 3516796; 3530608; 3542996; 6089171; 6091130; 6138751; 6324167; 6391881; 6398949; 7584914; 8344672; 8387539; 8494607; 8735181; 8901832; 9928950; 9933256; 11015597; 11098137; 11224002; 11409653; 11751703; 11776100; 11800056; 11803527; 11847188; 11903315; 11967817; 12045255; 12186695; 12394950; 12431442; 12431445; 12473863; 12477932; 12544508; 12556231; 12569263; 12613527; 12684512; 12695419; 12736712; 12854169; 12862204; 12933794; 14530292; 15015130; 15075192; 15342556; 15368359; 15489334; 15662219; 15739123; 15914614; 15914769; 16036389; 16116425; 16138564; 16169070; 16189286; 16375820; 16396763; 16446393; 16615274; 16672053; 16710414; 16790508; 16933186; 16940215; 16990260; 17158202; 17207965; 17416596; 17455195; 17476284; 17485830; 17546276; 17562974; 17660193; 17693975; 17703434; 17785633; 17851801; 18029348; 18077515; 18091737; 18175911; 18188989; 18192836; 18202178; 18205094; 18212269; 18259612; 18260994; 18325076; 18483152; 18486430; 18508487; 18519826; 18632798; 18698213; 18718746; 18722896; 18794727; 18856058; 18922597; 18953568; 19023100; 19073901; 19082699; 19126660; 19144755; 19243623; 19369955; 19473121; 19509012; 19513539; 19536175; 19664745; 19673942; 19716087; 19733264; 19759335; 19761684; 19891555; 19913121; 20160196; 20201926; 20223792; 20379614; 20429690; 20452482; 20486282; 20502328; 20529973; 20537141; 20577119; 20619546; 20628086; 20662730; 20673868; 20702505; 20826507; 20861226; 20884641; 20925572; 20927107; 21036942; 21084044; 21111986; 21163863; 21330419; 21330422; 21340620; 21424086; 21443456; 21473025; 21490026; 21521263; 21576655; 21659414; 21697610; 21712789; 21742440; 21831501; 21881521; 21941204; 21941205; 22022827; 22042811; 22136493; 22396488; 22453004; 22459392; 22575890; 22676457; 22695510; 22721990; 23111329; 23292178; 23461768; 24218434 renin Ensembl:ENSG00000143839 HGNC:9958 HPRD:01564 MIM:179820 Vega:OTTHUMG00000036059 Other designations: angiotensin-forming enzyme|angiotensinogenase|renin precursor, renal REN Bin Zhao, Yue Liu, Oliver He NS8 RIBB RIT ROC1 WEB: http://www.ncbi.nlm.nih.gov/gene RIT1 Ras-like without CAAX 1 6016 RP11-101O6.4 1q22 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 10545207); GO_0005516 (EC: TAS, PMID: 8918462); GO_0005525 (EC: IEA); GO_0005886 (EC: IEA); GO_0006184 (EC: IEA); GO_0007165 (EC: TAS, PMID: 8918462); GO_0007264 (EC: TAS); GO_0007265 (EC: IDA); GO_0048011 (EC: TAS) PMID: 8824319; 8889548; 8918462; 10545207; 10712923; 12477932; 12668729; 14767908; 15632082; 15761153; 16169070; 17360488; 17474147; 17636018; 18303015; 18332868; 18846501; 19030229; 19458171; 21444726; 23038261; 23123784; 23128233; 23602568; 23667514; 23765226; 23770287; 23791108 Ras-like without CAAX 1 Ensembl:ENSG00000143622 HGNC:10023 HPRD:10195 MIM:609591 Vega:OTTHUMG00000014104 Other designations: GTP-binding protein Rit1|GTP-binding protein Roc1|Ric-like, expressed in many tissues|ras-like protein expressed in many tissues|ras-like without CAAX protein 1 RIT1 Bin Zhao, Yue Liu, Oliver He RAC1 RIB1 RNS1 WEB: http://www.ncbi.nlm.nih.gov/gene RNASE1 ribonuclease, RNase A family, 1 (pancreatic) 6035 14q11.2 20140408 9606 14 protein-coding Official from a nomenclature committee GO_0003676 (EC: IEA); GO_0004522 (EC: IEA); GO_0005515 (EC: IPI, PMID: 17350650); GO_0005576 (EC: IEA); GO_0090502 (EC: TAS, PMID: 8049276) PMID: 1587793; 1741299; 2049798; 2383019; 3202829; 6201087; 7492594; 7649283; 8049276; 8280059; 8588814; 9311977; 10632727; 11021969; 11264578; 11342552; 11412105; 11591351; 11848924; 12022038; 12210760; 12237131; 12477932; 12626415; 12939146; 15489334; 15528350; 16054567; 16114055; 16597833; 16738129; 16751256; 16780873; 17109515; 17224235; 17234723; 17350650; 17627168; 17705507; 18029348; 18219569; 18495155; 19156888; 20352290; 21103661; 21408145; 21767499; 21988832; 22190034; 23135272; 23251661; 24337645 ribonuclease, RNase A family, 1 (pancreatic) Ensembl:ENSG00000129538 HGNC:10044 HPRD:01591 MIM:180440 Vega:OTTHUMG00000029603 Other designations: HP-RNase|RIB-1|RNase 1|RNase A|RNase upI-1|ribonuclease 1|ribonuclease A C1|ribonuclease pancreatic RNASE1 Bin Zhao, Yue Liu, Oliver He DUTT1 SAX3 WEB: http://www.ncbi.nlm.nih.gov/gene ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) 6091 3p12 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0002042 (EC: IMP, PMID: 19351956); GO_0005515 (EC: IPI, PMID: 12504588); GO_0005737 (EC: IDA, PMID: 18566128); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 9608531); GO_0006919 (EC: IMP, PMID: 18566128); GO_0007155 (EC: TAS, PMID: 9608531); GO_0007156 (EC: IDA, PMID: 12504588); GO_0007399 (EC: TAS, PMID: 9608531); GO_0007411 (EC: TAS); GO_0008046 (EC: TAS, PMID: 9458045); GO_0009986 (EC: IDA, PMID: 12504588); GO_0016199 (EC: ISS); GO_0021836 (EC: IDA, PMID: 15207848); GO_0030275 (EC: IPI, PMID: 17848514); GO_0030673 (EC: IEA); GO_0033600 (EC: IMP, PMID: 18829537); GO_0035385 (EC: IMP, PMID: 18829537); GO_0042802 (EC: IDA, PMID: 12504588); GO_0046982 (EC: IEA); GO_0050772 (EC: IDA, PMID: 12504588); GO_0050925 (EC: IDA, PMID: 11748139); GO_0060763 (EC: IEA); GO_0070100 (EC: IMP, PMID: 18829537) PMID: 9458045; 9608531; 9796701; 10102268; 10433822; 10892742; 11672528; 11748139; 12082532; 12471613; 12477932; 12504588; 12892710; 14702039; 15207848; 15342556; 15489334; 16169070; 16254601; 16636676; 16641997; 16685377; 16740745; 17062560; 17081983; 17671114; 17671369; 17848514; 17968499; 18270976; 18387595; 18464913; 18566128; 18829537; 18948384; 19023125; 19104841; 19351956; 19684588; 19706539; 20029409; 20068157; 20071679; 20298689; 20300657; 20379614; 20438712; 20471383; 20816195; 20936779; 20949370; 21041608; 21060114; 21139048; 21283129; 21385904; 21465248; 21686327; 21857494; 21875486; 21890473; 21998696; 22262894; 22719878; 22826604; 22898079; 22939629; 23000965; 23119100; 23733161; 23953227; 23954868; 24124411 roundabout, axon guidance receptor, homolog 1 (Drosophila) Ensembl:ENSG00000169855 HGNC:10249 HPRD:03890 MIM:602430 Vega:OTTHUMG00000158843 Other designations: deleted in U twenty twenty|roundabout homolog 1 ROBO1 Bin Zhao, Yue Liu, Oliver He SAX3 WEB: http://www.ncbi.nlm.nih.gov/gene ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 6092 3p12.3 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0001656 (EC: ISS); GO_0001657 (EC: IMP, PMID: 17357069); GO_0005515 (EC: IPI, PMID: 12504588); GO_0007156 (EC: IDA, PMID: 12504588); GO_0007411 (EC: ISS); GO_0007411 (EC: TAS); GO_0007417 (EC: NAS, PMID: 9458045); GO_0007420 (EC: IEP, PMID: 10197527); GO_0008046 (EC: ISS); GO_0008046 (EC: NAS, PMID: 9458045); GO_0009986 (EC: IDA, PMID: 12504588); GO_0016021 (EC: IEA); GO_0016199 (EC: ISS); GO_0021891 (EC: ISS); GO_0030673 (EC: ISS); GO_0031290 (EC: ISS); GO_0032870 (EC: IEP, PMID: 18566128); GO_0042802 (EC: IDA, PMID: 12504588); GO_0046982 (EC: IEA); GO_0050772 (EC: IDA, PMID: 12504588); GO_0050925 (EC: IDA, PMID: 11748139); GO_0051964 (EC: ISS); GO_0061364 (EC: IEP, PMID: 18566128); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 9458045; 10102268; 10197527; 10997877; 11748139; 11754167; 12477932; 12504588; 15130495; 15207848; 15489334; 16169070; 16713569; 16829019; 17357069; 18235093; 18270976; 18464913; 18566128; 19023125; 19056867; 19240061; 19350278; 19959718; 20029409; 20201926; 20345837; 20379614; 20467438; 21150319; 21900206; 22675492; 22719878; 23319000; 23382691; 23525682; 23536131; 23568457; 24024966 roundabout, axon guidance receptor, homolog 2 (Drosophila) Ensembl:ENSG00000185008 HGNC:10250 MIM:602431 Vega:OTTHUMG00000158935 Other designations: roundabout homolog 2 ROBO2 Bin Zhao, Yue Liu, Oliver He NR1F3 RORG RZR-GAMMA RZRG TOR WEB: http://www.ncbi.nlm.nih.gov/gene RORC RAR-related orphan receptor C 6097 RP11-98D18.11-001 1q21 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0003677 (EC: ISS); GO_0003700 (EC: ISS); GO_0003707 (EC: IEA); GO_0004879 (EC: IEA); GO_0005515 (EC: IPI); GO_0005634 (EC: IDA, PMID: 19965867); GO_0005634 (EC: ISS); GO_0005654 (EC: TAS); GO_0006367 (EC: TAS); GO_0006468 (EC: IEA); GO_0006805 (EC: ISS); GO_0008142 (EC: IDA, PMID: 19965867); GO_0008270 (EC: IEA); GO_0010467 (EC: TAS); GO_0010906 (EC: ISS); GO_0019218 (EC: ISS); GO_0030522 (EC: TAS, PMID: 7811290); GO_0032922 (EC: ISS); GO_0033077 (EC: IEA); GO_0036315 (EC: IDA, PMID: 19965867); GO_0042093 (EC: ISS); GO_0042753 (EC: ISS); GO_0043565 (EC: IEA); GO_0043565 (EC: ISS); GO_0045598 (EC: ISS); GO_0048535 (EC: IEA); GO_0048535 (EC: ISS); GO_0048537 (EC: IEA); GO_0048541 (EC: ISS); GO_0060612 (EC: ISS); GO_0060850 (EC: ISS); GO_0070244 (EC: ISS); GO_0072539 (EC: ISS); GO_0098531 (EC: IDA, PMID: 19965867) PMID: 7811290; 8125298; 9403063; 10405182; 10602018; 10875923; 10963675; 11076863; 11230166; 11983153; 12477932; 12855222; 14702039; 15144897; 15489334; 15489336; 15604093; 16381901; 16712791; 17240331; 17504012; 18434325; 18564921; 19029904; 19112760; 19439651; 19449310; 19648312; 19692128; 19965867; 20106535; 20203100; 20211758; 20379614; 20427770; 20450585; 21391996; 21426710; 21455110; 21566134; 21791252; 21988832; 22058032; 22237416; 22326581; 22404826; 22891280; 22989874; 23043388; 23128233; 23211525; 23327801; 23409930; 23726039; 23990625 RAR-related orphan receptor C Ensembl:ENSG00000143365 HGNC:10260 HPRD:04250 MIM:602943 Vega:OTTHUMG00000013053 Other designations: RAR-related orphan nuclear receptor variant 2|nuclear receptor ROR-gamma|nuclear receptor RZR-gamma|nuclear receptor subfamily 1 group F member 3|retinoic acid-binding receptor gamma|retinoid-related orphan receptor gamma RORC Bin Zhao, Yue Liu, Oliver He R2 RR2 RR2M WEB: http://www.ncbi.nlm.nih.gov/gene RRM2 ribonucleotide reductase M2 6241 2p25-p24 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0000082 (EC: TAS); GO_0000083 (EC: TAS); GO_0000278 (EC: TAS); GO_0004748 (EC: ISS); GO_0004748 (EC: NAS, PMID: 1627826); GO_0005515 (EC: IPI); GO_0005634 (EC: IDA); GO_0005654 (EC: TAS); GO_0005737 (EC: IDA); GO_0005829 (EC: TAS); GO_0006260 (EC: IEA); GO_0009186 (EC: IEA); GO_0009263 (EC: ISS); GO_0015949 (EC: TAS); GO_0044281 (EC: TAS); GO_0046872 (EC: IEA); GO_0051290 (EC: IEA); GO_0055086 (EC: TAS) PMID: 1627826; 3311968; 7937751; 9990288; 10631117; 11517226; 11781084; 11978967; 11978970; 12477932; 12615712; 12655059; 12694192; 14583450; 14661056; 14702039; 14729598; 15096505; 15489334; 15815621; 16344560; 16376858; 16964243; 17222798; 17486094; 18278438; 18414411; 18820369; 18941749; 19002265; 19082948; 19250552; 19322201; 19416980; 19568409; 19639316; 20056645; 20155784; 20159953; 20484015; 20587610; 20825972; 20927319; 21139048; 21166702; 21628579; 21844567; 21873171; 21875941; 21890473; 21906983; 21963094; 21965764; 22166006; 22190034; 22505724; 22569992; 22632967; 22670179; 22797925; 22884145; 22939629; 23002339; 23249808; 23335963; 23466567; 23519412; 23535732; 23719266; 24082141 ribonucleotide reductase M2 Ensembl:ENSG00000171848 HGNC:10452 HPRD:01587 MIM:180390 Vega:OTTHUMG00000090449 Other designations: ribonucleoside-diphosphate reductase subunit M2|ribonucleotide reductase M2 polypeptide|ribonucleotide reductase small chain|ribonucleotide reductase small subunit RRM2 Bin Zhao, Yue Liu, Oliver He 18A2 42A CAPL FSP1 MTS1 P9KA PEL98 WEB: http://www.ncbi.nlm.nih.gov/gene S100A4 S100 calcium binding protein A4 6275 1q21 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001837 (EC: TAS, PMID: 14679171); GO_0003779 (EC: IEA); GO_0005509 (EC: IEA); GO_0005515 (EC: IPI, PMID: 14640694); GO_0005615 (EC: IDA); GO_0005634 (EC: IDA, PMID: 12118070); GO_0042802 (EC: IEA); GO_0043005 (EC: IEA); GO_0043123 (EC: IDA, PMID: 15033494); GO_0044822 (EC: IDA); GO_0048306 (EC: IEA); GO_0048471 (EC: IDA, PMID: 15033494); GO_0050786 (EC: IPI, PMID: 15033494); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 1329089; 1384693; 1482346; 3155863; 7607566; 7759097; 8120097; 8204608; 8341667; 9405067; 9926943; 10753920; 10869553; 11278510; 11278647; 11527429; 11752788; 11786397; 11836260; 11875708; 11994292; 12118070; 12147716; 12168821; 12239456; 12379109; 12439718; 12445462; 12477932; 12517790; 12532418; 12645008; 12756252; 12942774; 14531065; 14606958; 14640694; 14679171; 14713104; 15033494; 15116098; 15171681; 15289939; 15334597; 15479433; 15489334; 15543138; 15579771; 15608682; 15635413; 15713996; 15781852; 15788416; 15852272; 15956747; 16097057; 16169070; 16243835; 16265347; 16367903; 16489073; 16554030; 16571622; 16685438; 16710414; 16712791; 16865243; 16948116; 16984379; 16990429; 17032501; 17051636; 17200116; 17219414; 17223348; 17276942; 17328050; 17497677; 17504119; 17550972; 17565747; 17638890; 17673926; 17851788; 18029348; 18154362; 18246798; 18350635; 18410126; 18435928; 18548584; 18554396; 18618724; 18694925; 18718015; 18781797; 18783790; 18784356; 18803290; 19011242; 19023966; 19043399; 19056867; 19059703; 19194111; 19248116; 19399660; 19506550; 19513503; 19596927; 19601998; 19615802; 19641515; 19653048; 19666596; 19682073; 19703228; 19713532; 19799859; 19808905; 19820999; 19917604; 19945782; 19956863; 20000738; 20019188; 20050020; 20070253; 20093727; 20204297; 20332215; 20346360; 20367639; 20489045; 20515499; 20591429; 20650761; 20685652; 20712050; 20719498; 20855150; 21110983; 21169409; 21195708; 21218086; 21289293; 21352421; 21360024; 21514449; 21603862; 21618579; 21691200; 21712367; 21721535; 21837681; 21889495; 21890473; 21906983; 21924240; 21963094; 21986134; 21987572; 22126861; 22147918; 22200787; 22258387; 22287060; 22408350; 22458600; 22460785; 22483112; 22569556; 22613408; 22740693; 22863883; 22878175; 22934964; 22939629; 22964635; 23026527; 23085231; 23149742; 23162804; 23316018; 23378728; 23383075; 23543443; 23546393; 23612849; 23667563; 23752197; 23771538; 23781010; 23832737; 23851436; 23886630; 24065232; 24215866 S100 calcium binding protein A4 Ensembl:ENSG00000196154 HGNC:10494 HPRD:15914 MIM:114210 Vega:OTTHUMG00000013546 Other designations: S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)|fibroblast-specific protein-1|leukemia multidrug resistance associated protein|malignant transformation suppression 1|placental calcium-binding protein|protein Mts1|protein S100-A4 S100A4 Bin Zhao, Yue Liu, Oliver He 2A9 5B10 CABP CACY PRA WEB: http://www.ncbi.nlm.nih.gov/gene S100A6 S100 calcium binding protein A6 6277 1q21 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001726 (EC: IDA, PMID: 10913138); GO_0005509 (EC: IDA, PMID: 11937060); GO_0005509 (EC: NAS, PMID: 12577318); GO_0005515 (EC: IPI, PMID: 10913138); GO_0005523 (EC: IDA, PMID: 19724273); GO_0005634 (EC: IDA, PMID: 10913138); GO_0005635 (EC: IDA, PMID: 12601007); GO_0005635 (EC: NAS, PMID: 12577318); GO_0005737 (EC: IDA); GO_0005737 (EC: TAS, PMID: 16130169); GO_0005829 (EC: IDA, PMID: 19724273); GO_0007165 (EC: TAS, PMID: 16130169); GO_0007409 (EC: NAS, PMID: 12152788); GO_0008270 (EC: IEA); GO_0015075 (EC: IEA); GO_0031234 (EC: IDA, PMID: 19724273); GO_0042803 (EC: IDA, PMID: 10913138); GO_0042803 (EC: IPI, PMID: 11937060); GO_0044548 (EC: IPI, PMID: 10913138); GO_0048146 (EC: NAS, PMID: 12577318); GO_0048306 (EC: IDA, PMID: 10913138); GO_0048471 (EC: IDA, PMID: 12118070); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 1299619; 1384693; 1482346; 1999197; 2448309; 2775283; 3036810; 3755724; 7759097; 7821789; 8341667; 8701470; 9578461; 9925766; 10037139; 10913138; 11925593; 11937060; 12042313; 12118070; 12152788; 12239456; 12477932; 12577318; 12601007; 12746458; 12805373; 12859951; 14584893; 15489334; 15878395; 16130169; 16157226; 16278400; 16288473; 16710414; 17466273; 17495951; 17721932; 17726019; 18029348; 18201235; 18612712; 18620780; 18669640; 18714402; 18753141; 18765292; 18803400; 19048101; 19056867; 19062716; 19297317; 19542912; 19601998; 19712129; 19724273; 19834903; 19888321; 20188096; 20213445; 20581057; 20591429; 20596636; 20629554; 21039744; 21139048; 21319273; 21663912; 21693764; 21906983; 21923636; 21938494; 21963094; 21987572; 22192801; 22295074; 22450162; 22505232; 22560296; 22681645; 22939629; 23000965; 23076148; 23095053; 23344957; 23537648; 23796514; 23886630 S100 calcium binding protein A6 Ensembl:ENSG00000197956 HGNC:10496 HPRD:00237 MIM:114110 Vega:OTTHUMG00000013549 Other designations: MLN 4|S100 calcium-binding protein A6 (calcyclin)|calcyclin|growth factor-inducible protein 2A9|prolactin receptor-associated protein|protein S100-A6 S100A6 Bin Zhao, Yue Liu, Oliver He 60B8AG CAGA CFAG CGLA CP-10 L1Ag MA387 MIF MRP8 NIF P8 WEB: http://www.ncbi.nlm.nih.gov/gene S100A8 S100 calcium binding protein A8 6279 1q21 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001816 (EC: TAS); GO_0002523 (EC: IDA, PMID: 12626582); GO_0002526 (EC: IEA); GO_0002544 (EC: IEA); GO_0005509 (EC: TAS); GO_0005515 (EC: IPI); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA); GO_0005829 (EC: TAS); GO_0005856 (EC: TAS); GO_0005886 (EC: TAS); GO_0006914 (EC: IDA, PMID: 19935772); GO_0006919 (EC: IDA, PMID: 19935772); GO_0006954 (EC: TAS, PMID: 3313057); GO_0008017 (EC: TAS); GO_0008270 (EC: TAS); GO_0010043 (EC: IEA); GO_0030307 (EC: TAS); GO_0030593 (EC: IDA, PMID: 12626582); GO_0032119 (EC: TAS); GO_0032496 (EC: IEA); GO_0032602 (EC: TAS); GO_0035662 (EC: TAS); GO_0042060 (EC: IEA); GO_0042742 (EC: TAS); GO_0045087 (EC: IEA); GO_0045471 (EC: IEA); GO_0050544 (EC: TAS); GO_0050729 (EC: IDA, PMID: 12626582); GO_0050786 (EC: TAS); GO_0050832 (EC: TAS); GO_0051092 (EC: TAS); GO_0051493 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867); GO_0070488 (EC: IDA, PMID: 12626582); GO_2001244 (EC: IDA, PMID: 19935772) PMID: 1286667; 1326551; 2039599; 2149559; 3267695; 3313057; 3405210; 3561500; 7759097; 7849642; 8341667; 8400238; 8423249; 8619876; 8701470; 9867828; 9920411; 10571075; 10771424; 10837826; 11058579; 11141076; 11435486; 11564187; 11708798; 11867565; 11895856; 12137245; 12218151; 12477932; 12480428; 12489193; 12553726; 12626582; 12645005; 12697438; 12704215; 12710851; 12719414; 12748257; 12833525; 12937135; 13130482; 15069705; 15331440; 15489334; 15598812; 15642721; 15816004; 16033829; 16169070; 16216873; 16297907; 16573830; 16613612; 16690079; 16710414; 16806487; 16979015; 17050004; 17069562; 17090475; 17197440; 17353931; 17429438; 17469085; 17557234; 17636430; 17644317; 17787039; 17852869; 17895549; 17936757; 18030206; 18044712; 18060880; 18339893; 18374411; 18537548; 18588753; 18689872; 18786929; 18832721; 18922970; 19056867; 19079333; 19087201; 19186948; 19201880; 19210342; 19232095; 19248102; 19284577; 19380743; 19440546; 19466434; 19505873; 19530996; 19596235; 19601998; 19608587; 19615732; 19670424; 19695969; 19752232; 19755614; 19823685; 19898558; 19935772; 19957061; 20096140; 20172281; 20219570; 20391533; 20555353; 20594128; 20717964; 20811636; 20819668; 20833513; 20936779; 21067798; 21072048; 21139048; 21145461; 21182205; 21192933; 21228116; 21239714; 21319273; 21334078; 21434523; 21463326; 21472666; 21492422; 21592353; 21766173; 21791097; 21799753; 21832049; 21900206; 21912088; 21961943; 21971985; 22127564; 22139384; 22209981; 22282267; 22318783; 22363402; 22381691; 22420238; 22446997; 22505354; 22555971; 22586326; 22622474; 22634002; 22660800; 22683330; 22728165; 22806545; 22808130; 22990118; 23018243; 23165982; 23248262; 23299480; 23320892; 23378728; 23423260; 23426492; 23431180; 23455922; 23456298; 23483999; 23626736; 23637971; 23800059; 23824909; 23850136; 23874958; 23907944; 23915068; 23942785; 23954397; 24122301; 24202303 S100 calcium binding protein A8 Ensembl:ENSG00000143546 HGNC:10498 HPRD:00471 MIM:123885 Vega:OTTHUMG00000013124 Other designations: MRP-8|S100 calcium-binding protein A8 (calgranulin A)|calgranulin A|calgranulin-A|calprotectin L1L subunit|cystic fibrosis antigen|leukocyte L1 complex light chain|migration inhibitory factor-related protein 8|protein S100-A8|urinary stone protein band A S100A8 Bin Zhao, Yue Liu, Oliver He 60B8AG CAGB CFAG CGLB L1AG LIAG MAC387 MIF MRP14 NIF P14 WEB: http://www.ncbi.nlm.nih.gov/gene S100A9 S100 calcium binding protein A9 6280 1q21 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001816 (EC: TAS); GO_0002523 (EC: IDA, PMID: 12626582); GO_0002544 (EC: IEA); GO_0004871 (EC: TAS, PMID: 3313057); GO_0005509 (EC: TAS); GO_0005515 (EC: IPI, PMID: 17620599); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA); GO_0005829 (EC: TAS); GO_0005856 (EC: TAS); GO_0005886 (EC: TAS); GO_0006914 (EC: IDA, PMID: 19935772); GO_0006919 (EC: IDA, PMID: 19935772); GO_0006954 (EC: TAS, PMID: 3313057); GO_0007165 (EC: TAS, PMID: 3313057); GO_0007267 (EC: TAS, PMID: 3313057); GO_0008017 (EC: TAS); GO_0008270 (EC: TAS); GO_0010043 (EC: IEA); GO_0016209 (EC: IEA); GO_0030307 (EC: TAS); GO_0030593 (EC: IDA, PMID: 12626582); GO_0031532 (EC: IEA); GO_0032119 (EC: TAS); GO_0032496 (EC: IEA); GO_0032602 (EC: TAS); GO_0035662 (EC: TAS); GO_0042742 (EC: TAS); GO_0045087 (EC: IEA); GO_0045113 (EC: IEA); GO_0045471 (EC: IEA); GO_0050544 (EC: TAS); GO_0050729 (EC: IDA, PMID: 12626582); GO_0050786 (EC: TAS); GO_0050832 (EC: TAS); GO_0051092 (EC: TAS); GO_0051493 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867); GO_0070488 (EC: IDA, PMID: 12626582); GO_2001244 (EC: IDA, PMID: 19935772) PMID: 1286667; 1562590; 2149559; 2478889; 2656677; 3313057; 3405210; 7759097; 8341667; 8400238; 8423249; 8701470; 9570563; 9867828; 9920411; 10464253; 10551823; 10612291; 10837826; 11058579; 11564187; 11708798; 11803621; 11851337; 11867565; 12137245; 12167632; 12218151; 12477932; 12489193; 12553726; 12626582; 12645005; 12704215; 12710851; 12719414; 12748056; 12748257; 12833525; 12937135; 13130482; 14654085; 15040889; 15069705; 15075348; 15277376; 15489334; 15598812; 15642721; 15740587; 15905572; 16033829; 16196087; 16216873; 16253391; 16297907; 16573830; 16613612; 16682612; 16690079; 16710414; 16799092; 16806487; 16979015; 17050004; 17090475; 17095618; 17110338; 17126494; 17187679; 17222807; 17237603; 17328050; 17353931; 17429438; 17620599; 17636430; 17787039; 17803295; 17852869; 17895549; 17936757; 18029348; 18030206; 18044712; 18060880; 18339893; 18537548; 18588753; 18689872; 18784990; 18786929; 18803290; 18922970; 18927283; 19056867; 19059406; 19079333; 19087201; 19122197; 19142861; 19156129; 19165585; 19186948; 19201880; 19203362; 19232095; 19248102; 19284577; 19380743; 19440546; 19534726; 19601998; 19608587; 19670424; 19752232; 19755614; 19762566; 19823685; 19935772; 19957061; 20098622; 20103766; 20130364; 20219570; 20226301; 20231196; 20237496; 20422274; 20550547; 20555353; 20594128; 20812987; 20819668; 20936779; 21067798; 21139048; 21145461; 21192933; 21228116; 21239714; 21325622; 21334078; 21369941; 21376380; 21380506; 21472666; 21492422; 21592353; 21738950; 21766173; 21782178; 21791097; 21799753; 21839816; 21912088; 22029973; 22074005; 22093455; 22127564; 22145905; 22209981; 22230807; 22253789; 22282267; 22304731; 22318783; 22363402; 22446997; 22457725; 22505354; 22555971; 22583932; 22622474; 22634002; 22660800; 22683330; 22691358; 22699162; 22804476; 22822112; 22838504; 22864818; 22939629; 22962574; 23018243; 23029420; 23135911; 23165982; 23207880; 23223301; 23248262; 23299480; 23320892; 23340902; 23349634; 23354417; 23378728; 23423260; 23426492; 23431180; 23455922; 23456298; 23483999; 23563247; 23626736; 23637971; 23664529; 23667563; 23806524; 23850136; 23868055; 23874958; 23883959; 23907944; 23915068; 23942785; 23954397; 24054362; 24122301; 24202303 S100 calcium binding protein A9 Ensembl:ENSG00000163220 HGNC:10499 HPRD:00472 MIM:123886 Vega:OTTHUMG00000013125 Other designations: MRP-14|S100 calcium-binding protein A9 (calgranulin B)|calgranulin B|calgranulin-B|calprotectin L1H subunit|leukocyte L1 complex heavy chain|migration inhibitory factor-related protein 14|protein S100-A9 S100A9 Bin Zhao, Yue Liu, Oliver He BFIC3 BFIS3 BFNIS EIEE11 HBA HBSCI HBSCII NAC2 Na(v)1.2 Nav1.2 SCN2A1 SCN2A2 WEB: http://www.ncbi.nlm.nih.gov/gene SCN2A sodium channel, voltage-gated, type II, alpha subunit 6326 2q24.3 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0001518 (EC: IEA); GO_0005248 (EC: ISS); GO_0005887 (EC: TAS, PMID: 1325650); GO_0006814 (EC: TAS, PMID: 1325650); GO_0008627 (EC: IEA); GO_0014704 (EC: IEA); GO_0030315 (EC: IEA); GO_0030424 (EC: TAS, PMID: 16652168); GO_0031226 (EC: ISS); GO_0033268 (EC: ISS); GO_0033270 (EC: IEA); GO_0034706 (EC: ISS); GO_0035725 (EC: ISS); GO_0042552 (EC: ISS); GO_0051402 (EC: IEA) PMID: 1317301; 1325650; 1846440; 2571571; 8889548; 10344788; 10486327; 11000491; 11245985; 11326335; 11371648; 11738931; 12036953; 12165424; 12243921; 12477932; 12610651; 12930796; 14761957; 15028761; 15048894; 15249644; 15316014; 15342556; 15681389; 16052353; 16169070; 16344560; 16382098; 16417554; 16464983; 16652168; 16847056; 16914293; 17386050; 17467289; 17544618; 17641256; 17715289; 17805013; 18479388; 18784617; 19129176; 19270815; 19401682; 19465131; 19694741; 19738391; 19743470; 19783390; 19786696; 20346423; 20371507; 20379614; 20467438; 20602612; 21156207; 21377452; 21439835; 21762452; 22029951; 22495306; 22525008; 22591750; 22677033; 23016767; 23360469; 23550958; 23758435; 23827426; 23859570; 23935176; 24024966 sodium channel, voltage-gated, type II, alpha subunit Ensembl:ENSG00000136531 HGNC:10588 HPRD:03133 MIM:182390 Vega:OTTHUMG00000044172 Other designations: HBSC II|sodium channel protein brain II subunit alpha|sodium channel protein type 2 subunit alpha|sodium channel protein type II subunit alpha|sodium channel protein, brain type 2 alpha subunit|sodium channel, voltage-gated, type II, alpha 1 polypeptide|sodium channel, voltage-gated, type II, alpha 2 polypeptide|voltage-gated sodium channel subtype II|voltage-gated sodium channel subunit alpha Nav1.2 SCN2A Bin Zhao, Yue Liu, Oliver He NaG Nav2.1 Nav2.2 SCN6A WEB: http://www.ncbi.nlm.nih.gov/gene SCN7A sodium channel, voltage-gated, type VII, alpha subunit 6332 2q21-q23 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0001518 (EC: IEA); GO_0005248 (EC: IEA); GO_0006814 (EC: TAS, PMID: 1317577); GO_0006936 (EC: IEA); GO_0055078 (EC: IEA); GO_0097386 (EC: IEA) PMID: 1317577; 1846440; 7874451; 8188276; 8889548; 10198179; 11144347; 12477932; 14669210; 17339538; 18029348; 19451621 sodium channel, voltage-gated, type VII, alpha subunit Ensembl:ENSG00000136546 HGNC:10594 HPRD:08355 MIM:182392 Vega:OTTHUMG00000154078 Other designations: putative voltage-gated sodium channel subunit alpha Nax|sodium channel protein cardiac and skeletal muscle subunit alpha|sodium channel protein type 7 subunit alpha|sodium channel protein type VII subunit alpha|sodium channel, voltage-gated, type VI, alpha polypeptide|voltage-dependent sodium channel alpha subunit SCN7A Bin Zhao, Yue Liu, Oliver He BESC3 ENaCg ENaCgamma PHA1 SCNEG WEB: http://www.ncbi.nlm.nih.gov/gene SCNN1G sodium channel, non-voltage-gated 1, gamma subunit 6340 16p12 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0005272 (EC: TAS, PMID: 8521520); GO_0005515 (EC: IPI, PMID: 11244092); GO_0005886 (EC: TAS); GO_0005887 (EC: IDA); GO_0006814 (EC: TAS, PMID: 8521520); GO_0007588 (EC: TAS, PMID: 8640238); GO_0009897 (EC: IEA); GO_0015280 (EC: IDA, Qualifier: contributes_to); GO_0016324 (EC: IEA); GO_0034220 (EC: TAS); GO_0034706 (EC: IDA); GO_0035725 (EC: IDA); GO_0050699 (EC: IPI, PMID: 10642508); GO_0050891 (EC: IDA); GO_0050896 (EC: IEA); GO_0050909 (EC: IEA); GO_0055078 (EC: IDA); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 15326289) PMID: 7490094; 7499195; 7550319; 7762608; 8521520; 8640238; 8824247; 8986818; 9169421; 9351815; 10212229; 10391210; 10404817; 10409621; 10642508; 10727408; 11180614; 11244092; 11359767; 11463765; 11802777; 11805112; 11845306; 11906720; 12107247; 12167593; 12473862; 12477932; 12548396; 12562778; 12876068; 14645214; 14996668; 15188166; 15198480; 15326289; 15328345; 15489334; 15596218; 15661075; 15677482; 15702377; 15864129; 16172412; 16416336; 16423824; 16463024; 16574660; 16630545; 16716084; 16844684; 17013377; 17199078; 17241874; 17381423; 17434346; 17460608; 17502380; 17510235; 17560176; 17698725; 17766193; 17998393; 18322022; 18443236; 18498246; 18507830; 18632802; 18665318; 18701608; 18981180; 18990692; 19017867; 19073825; 19300301; 19359370; 19462466; 19561078; 19763606; 19779464; 19913121; 19948975; 20106988; 20376790; 20519934; 20628086; 20953144; 21307123; 21478478; 21562341; 21667229; 22006290; 22167092; 22207244; 22374202; 22526458; 22864553; 23060445; 23136006; 23218889; 23594824 sodium channel, non-voltage-gated 1, gamma subunit Ensembl:ENSG00000166828 HGNC:10602 HPRD:02862 MIM:600761 Vega:OTTHUMG00000131609 Other designations: ENaC gamma subunit|amiloride-sensitive epithelial sodium channel gamma subunit|amiloride-sensitive sodium channel gamma-subunit|amiloride-sensitive sodium channel subunit gamma|epithelial Na(+) channel subunit gamma|gamma-ENaC|gamma-NaCH|nonvoltage-gated sodium channel 1 subunit gamma|sodium channel, nonvoltage-gated 1, gamma SCNN1G Bin Zhao, Yue Liu, Oliver He GDCF-2 HC11 HSMCR30 MCAF MCP-1 MCP1 SCYA2 SMC-CF WEB: http://www.ncbi.nlm.nih.gov/gene CCL2 chemokine (C-C motif) ligand 2 6347 17q11.2-q12 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0000165 (EC: IMP); GO_0001525 (EC: TAS, PMID: 18334747); GO_0001666 (EC: IEA); GO_0001938 (EC: IEA); GO_0002548 (EC: IDA, PMID: 12207323); GO_0004672 (EC: TAS, PMID: 9973507); GO_0005102 (EC: TAS, PMID: 10542238); GO_0005576 (EC: IDA); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0005737 (EC: IEA); GO_0006468 (EC: TAS, PMID: 9670957); GO_0006874 (EC: IEA); GO_0006935 (EC: TAS, PMID: 10623817); GO_0006954 (EC: IDA); GO_0006959 (EC: TAS, PMID: 9548499); GO_0006987 (EC: TAS); GO_0007010 (EC: IDA, PMID: 10072545); GO_0007155 (EC: TAS, PMID: 10198043); GO_0007165 (EC: NAS, PMID: 10770925); GO_0007166 (EC: TAS, PMID: 9548499); GO_0007179 (EC: IEA); GO_0007186 (EC: TAS, PMID: 10542238); GO_0007187 (EC: TAS, PMID: 10770925); GO_0007259 (EC: TAS, PMID: 9670957); GO_0007568 (EC: IEA); GO_0008009 (EC: IEA); GO_0008201 (EC: IEA); GO_0008360 (EC: IDA, PMID: 10072545); GO_0009408 (EC: IEA); GO_0009612 (EC: IEA); GO_0009617 (EC: IEP, PMID: 16034137); GO_0009887 (EC: TAS, PMID: 9364936); GO_0010332 (EC: IEA); GO_0010574 (EC: IEA); GO_0010759 (EC: IEA); GO_0014823 (EC: IEA); GO_0016525 (EC: IEA); GO_0019079 (EC: TAS, PMID: 10985244); GO_0019221 (EC: IDA, PMID: 12207323); GO_0019725 (EC: TAS, PMID: 18334747); GO_0030593 (EC: IEA); GO_0030968 (EC: TAS); GO_0031100 (EC: IEA); GO_0031663 (EC: IDA); GO_0031727 (EC: ISS); GO_0031727 (EC: TAS, PMID: 18021937); GO_0032570 (EC: IEA); GO_0033552 (EC: IEA); GO_0034351 (EC: IDA, PMID: 12753088); GO_0035684 (EC: ISS); GO_0042493 (EC: IEA); GO_0043025 (EC: IEA); GO_0043200 (EC: IEA); GO_0043491 (EC: IMP); GO_0043524 (EC: IDA, PMID: 12753088); GO_0043615 (EC: IDA, PMID: 12271471); GO_0044267 (EC: TAS); GO_0044344 (EC: IEP, PMID: 9407497); GO_0045471 (EC: IEA); GO_0046677 (EC: IEA); GO_0048010 (EC: IEA); GO_0048246 (EC: IDA, PMID: 12207323); GO_0048247 (EC: IEA); GO_0050806 (EC: IEA); GO_0050870 (EC: ISS); GO_0051384 (EC: IEA); GO_0051770 (EC: ISS); GO_0060137 (EC: IEA); GO_0070098 (EC: IEA); GO_0071222 (EC: ISS); GO_0071346 (EC: IEP, PMID: 9407497); GO_0071346 (EC: ISS); GO_0071347 (EC: IEP, PMID: 9407497); GO_0071347 (EC: ISS); GO_0071356 (EC: IEP, PMID: 9407497); GO_0071356 (EC: ISS); GO_0071407 (EC: IDA); GO_0090265 (EC: IEA); GO_2000427 (EC: ISS); GO_2000502 (EC: IDA, PMID: 7545673) PMID: 1661560; 1857712; 2004761; 2071154; 2322286; 2357211; 2465924; 2501656; 2513477; 2518726; 2648385; 2923622; 7545673; 7651403; 8051410; 8107690; 8195247; 8627182; 8631787; 8639605; 8642344; 8898111; 8989326; 9287323; 9364936; 9405404; 9407497; 9501225; 9548499; 9558113; 9670957; 9789057; 9792375; 9792674; 9837883; 9973507; 10068657; 10072545; 10198043; 10453044; 10477718; 10529171; 10542238; 10587439; 10623817; 10644332; 10706668; 10734104; 10751368; 10770925; 10918580; 10982368; 10985244; 11083865; 11145723; 11154208; 11313374; 11350939; 11500196; 11544456; 11750041; 11751881; 11776402; 11844145; 11878903; 11912219; 11929421; 11989790; 11999660; 12009356; 12022754; 12067898; 12078856; 12082252; 12089333; 12093796; 12117737; 12127997; 12149192; 12183528; 12186702; 12195705; 12204371; 12207323; 12234797; 12239249; 12271471; 12351486; 12358851; 12372466; 12374865; 12391099; 12391196; 12393171; 12397639; 12399623; 12408680; 12410798; 12413001; 12419245; 12443832; 12460032; 12462338; 12470469; 12473373; 12477932; 12485413; 12488502; 12505750; 12520153; 12520365; 12540965; 12632067; 12651071; 12665582; 12724308; 12753088; 12758167; 12787135; 12805068; 12826189; 12826377; 12846738; 12904997; 12944979; 12946945; 12957789; 12960255; 13679391; 14517168; 14517792; 14550782; 14571188; 14576080; 14597108; 14602575; 14620921; 14647058; 14651522; 14660607; 14687706; 14733721; 14767014; 15005768; 15016614; 15022320; 15033992; 15034225; 15041705; 15067078; 15077296; 15081318; 15082170; 15110609; 15115316; 15123743; 15135805; 15167690; 15188361; 15191525; 15191888; 15191916; 15194470; 15203564; 15226634; 15257681; 15280531; 15288699; 15296827; 15302103; 15308783; 15312962; 15349727; 15389752; 15466648; 15468376; 15481145; 15488313; 15489334; 15492853; 15529362; 15545821; 15579297; 15599324; 15602730; 15607028; 15611878; 15627719; 15630704; 15654958; 15677312; 15722361; 15740484; 15745922; 15780578; 15832427; 15848524; 15866653; 15880317; 15883814; 15900302; 15919935; 15976326; 15979992; 16003740; 16004967; 16009177; 16009638; 16020745; 16034137; 16050950; 16078996; 16095529; 16105652; 16116069; 16129702; 16160188; 16164699; 16195477; 16204411; 16206161; 16206198; 16213182; 16214031; 16230097; 16249002; 16278381; 16280328; 16280979; 16307829; 16309586; 16318581; 16351713; 16352737; 16356504; 16358960; 16359995; 16362156; 16397773; 16415174; 16427785; 16436595; 16439461; 16439481; 16439891; 16445900; 16474202; 16479072; 16504689; 16516290; 16518346; 16524739; 16597919; 16609683; 16631114; 16636247; 16636603; 16672419; 16697212; 16697654; 16697675; 16705739; 16712788; 16719905; 16730843; 16733654; 16741188; 16750572; 16751386; 16781696; 16795034; 16802342; 16804844; 16814297; 16825597; 16828028; 16835702; 16867220; 16872505; 16873204; 16903979; 16934270; 16939660; 16980310; 16988194; 16997300; 17008880; 17032917; 17046994; 17052731; 17062130; 17065190; 17082648; 17091019; 17098977; 17138827; 17169533; 17187019; 17202846; 17207568; 17218539; 17262819; 17280738; 17283105; 17284607; 17307163; 17322498; 17364892; 17376903; 17379849; 17384985; 17390372; 17395051; 17404035; 17407231; 17416748; 17417600; 17424890; 17426779; 17431224; 17458901; 17465499; 17485071; 17486299; 17490777; 17495598; 17522215; 17525255; 17530707; 17582674; 17596666; 17625600; 17694504; 17700210; 17703277; 17703412; 17704101; 17706208; 17707134; 17728497; 17763208; 17767550; 17804911; 17822317; 17884268; 17886678; 17917677; 17920586; 17922439; 17928143; 17934860; 17940904; 17943082; 17949278; 17968528; 17968796; 17975143; 17977907; 17982227; 18021937; 18022660; 18032547; 18040846; 18042260; 18055544; 18060801; 18061474; 18069114; 18069417; 18070228; 18074388; 18089573; 18093183; 18093816; 18158188; 18164957; 18172114; 18186797; 18190912; 18191726; 18203956; 18205260; 18208975; 18230355; 18242157; 18266131; 18266972; 18270300; 18271757; 18272603; 18274642; 18276775; 18284633; 18310503; 18314120; 18334747; 18347511; 18371304; 18373164; 18381789; 18395486; 18395775; 18402383; 18436581; 18439751; 18443042; 18458846; 18469140; 18495743; 18506929; 18508485; 18515987; 18521742; 18522702; 18525219; 18528529; 18570214; 18611860; 18615095; 18619701; 18623207; 18636124; 18637012; 18646053; 18651322; 18656701; 18660381; 18660489; 18665050; 18678243; 18684531; 18690522; 18702087; 18702954; 18710415; 18718072; 18758234; 18762729; 18784079; 18790652; 18804983; 18808740; 18818748; 18824549; 18829011; 18837094; 18855195; 18937353; 18940815; 18953909; 18954908; 18962899; 18976655; 18976766; 18977211; 18996102; 18996288; 19001328; 19002595; 19009499; 19014891; 19017462; 19019335; 19020833; 19032843; 19032844; 19032966; 19034671; 19048368; 19055601; 19072670; 19074885; 19092169; 19099590; 19099689; 19100389; 19115220; 19132243; 19136823; 19147409; 19148342; 19152916; 19154405; 19155472; 19156168; 19166999; 19167353; 19168721; 19170716; 19176388; 19185603; 19187096; 19211266; 19215923; 19218821; 19228389; 19233564; 19234509; 19242604; 19247692; 19247801; 19258635; 19258923; 19267279; 19277984; 19281798; 19287949; 19288202; 19298002; 19317061; 19327225; 19328242; 19332042; 19347053; 19357773; 19360344; 19361458; 19364494; 19371341; 19373627; 19376162; 19379593; 19392835; 19409809; 19411748; 19420105; 19423540; 19426980; 19439012; 19441883; 19441886; 19443842; 19446037; 19450143; 19458908; 19465691; 19479998; 19494437; 19496969; 19506371; 19524871; 19525388; 19525846; 19526283; 19527514; 19555664; 19558503; 19565503; 19573434; 19576791; 19587356; 19587833; 19625220; 19628738; 19632522; 19639050; 19641159; 19642141; 19642908; 19644155; 19646633; 19658300; 19664934; 19668598; 19706805; 19711822; 19720836; 19726280; 19729601; 19736361; 19755790; 19755933; 19760754; 19773451; 19777601; 19781192; 19781803; 19782713; 19819989; 19822078; 19828696; 19833726; 19844201; 19851831; 19864434; 19865101; 19866475; 19881959; 19885629; 19893256; 19902472; 19904283; 19906815; 19913121; 19923858; 19926874; 19929093; 19938194; 19941075; 19942750; 19948975; 19957783; 19995900; 20000039; 20004457; 20016208; 20029197; 20029451; 20031554; 20038977; 20040767; 20041183; 20056091; 20056178; 20087947; 20097750; 20100200; 20102417; 20111728; 20121167; 20125127; 20137666; 20138641; 20140679; 20177146; 20179890; 20187772; 20193755; 20196868; 20221866; 20228199; 20231199; 20237358; 20237496; 20299238; 20299783; 20339010; 20339966; 20349326; 20351714; 20364004; 20368224; 20370601; 20374368; 20389059; 20406462; 20406964; 20414371; 20416077; 20423879; 20430117; 20431065; 20432237; 20437404; 20438785; 20442634; 20446021; 20449800; 20449809; 20451256; 20452482; 20484496; 20485444; 20488574; 20497022; 20503287; 20504881; 20523065; 20526368; 20531015; 20540976; 20546673; 20563852; 20570966; 20573518; 20576301; 20602615; 20605053; 20607592; 20610178; 20617559; 20625355; 20628086; 20634732; 20637631; 20650649; 20673868; 20677014; 20681057; 20692455; 20725607; 20726788; 20737475; 20811626; 20818133; 20825374; 20859200; 20861640; 20880493; 20934684; 20947712; 20950459; 20960176; 20962626; 20965747; 21033620; 21037509; 21072187; 21073393; 21087336; 21097527; 21102463; 21107756; 21114970; 21134984; 21135144; 21148795; 21181544; 21183736; 21187454; 21190865; 21199725; 21220697; 21224075; 21247529; 21251883; 21264298; 21264360; 21327296; 21328336; 21354997; 21361908; 21368227; 21376205; 21383955; 21384169; 21385934; 21397653; 21401388; 21413027; 21423810; 21447688; 21450101; 21486440; 21486949; 21504590; 21527853; 21529268; 21529952; 21532752; 21551367; 21556333; 21569455; 21574823; 21610567; 21615418; 21620438; 21627744; 21654748; 21691937; 21701898; 21726903; 21734368; 21744268; 21760952; 21774078; 21787749; 21799302; 21851000; 21855541; 21858104; 21859809; 21868018; 21868706; 21883707; 21890375; 21898402; 21900689; 21906274; 21910857; 21920519; 21924076; 21930770; 21951843; 21951854; 21961038; 21975431; 21991356; 21992868; 22026334; 22037282; 22037980; 22059352; 22081934; 22117412; 22117820; 22125641; 22131127; 22132892; 22138288; 22142522; 22147846; 22152380; 22159219; 22183310; 22197827; 22203484; 22210436; 22226505; 22240432; 22265030; 22276574; 22288595; 22300682; 22301094; 22303443; 22319587; 22319627; 22321225; 22362506; 22377751; 22378888; 22381103; 22384203; 22396538; 22412388; 22420243; 22422499; 22425139; 22427564; 22448134; 22466290; 22472119; 22476561; 22484917; 22487967; 22490648; 22493691; 22541401; 22543850; 22554651; 22558273; 22612293; 22617682; 22619484; 22641100; 22664781; 22669976; 22691208; 22694757; 22697070; 22707193; 22711527; 22721162; 22729037; 22733495; 22739041; 22750227; 22752804; 22759858; 22762377; 22763298; 22766373; 22815949; 22823210; 22848642; 22857869; 22859936; 22861370; 22868806; 22927430; 22942263; 22961048; 22980664; 22981148; 22985557; 22989614; 22992722; 23007133; 23017229; 23037589; 23039889; 23069648; 23090289; 23128233; 23135705; 23143679; 23151275; 23154550; 23160182; 23161207; 23166687; 23180368; 23185481; 23185512; 23192155; 23206327; 23211090; 23224211; 23255244; 23274856; 23300810; 23303452; 23349788; 23350010; 23352833; 23375122; 23383162; 23402987; 23408426; 23416968; 23418647; 23429817; 23434371; 23454776; 23474119; 23490412; 23529020; 23542734; 23548612; 23549806; 23555755; 23557387; 23559389; 23583295; 23629827; 23657965; 23686489; 23704830; 23712703; 23762283; 23770363; 23782302; 23816715; 23831464; 23845726; 23886148; 23887394; 23890452; 23939977; 23954399; 23982944; 23999007; 24058270; 24077340; 24078580; 24260304; 24273921 chemokine (C-C motif) ligand 2 Ensembl:ENSG00000108691 HGNC:10618 HPRD:01149 MIM:158105 Vega:OTTHUMG00000132887 Other designations: C-C motif chemokine 2|monocyte chemoattractant protein 1|monocyte chemoattractant protein-1|monocyte chemotactic and activating factor|monocyte chemotactic protein 1|monocyte secretory protein JE|small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)|small inducible cytokine subfamily A (Cys-Cys), member 2|small-inducible cytokine A2 CCL2 Bin Zhao, Yue Liu, Oliver He ACT2 AT744.1 G-26 HC21 LAG-1 LAG1 MIP-1-beta MIP1B MIP1B1 SCYA2 SCYA4 WEB: http://www.ncbi.nlm.nih.gov/gene CCL4 chemokine (C-C motif) ligand 4 6351 17q12 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0005125 (EC: TAS, PMID: 2462251); GO_0005515 (EC: IPI); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0006928 (EC: TAS, PMID: 9759849); GO_0006954 (EC: IEA); GO_0006955 (EC: IEA); GO_0007155 (EC: TAS, PMID: 10929056); GO_0007163 (EC: TAS, PMID: 9759849); GO_0007165 (EC: TAS, PMID: 10929056); GO_0007267 (EC: TAS, PMID: 2521882); GO_0008009 (EC: IEA); GO_0009615 (EC: TAS, PMID: 9743377); GO_0009636 (EC: IDA, PMID: 10841574); GO_0031726 (EC: IPI, PMID: 7545673); GO_0031730 (EC: IPI, PMID: 10679098); GO_0042802 (EC: IPI); GO_0043922 (EC: IDA, PMID: 10841574); GO_0050850 (EC: IMP, PMID: 10679098); GO_0051928 (EC: IDA, PMID: 8699119); GO_0060326 (EC: TAS, PMID: 10929056); GO_2000503 (EC: IDA, PMID: 7545673) PMID: 1894635; 1972563; 2247088; 2462251; 2521353; 2521882; 2568930; 2809212; 7545673; 7566098; 7594543; 7622448; 8077676; 8134838; 8525373; 8661057; 8663314; 8699119; 8898753; 8906795; 8906796; 9256481; 9359702; 9405404; 9420238; 9520456; 9521068; 9558100; 9576751; 9658081; 9743377; 9759849; 9973507; 10049593; 10089882; 10395844; 10470075; 10540332; 10608777; 10644351; 10679098; 10751368; 10820198; 10841574; 10900358; 10929056; 10938094; 10985253; 11023526; 11129109; 11278300; 11313374; 11470920; 11485305; 11602715; 11685466; 11751963; 12036855; 12070155; 12089333; 12200385; 12218153; 12370346; 12377943; 12393595; 12393716; 12401480; 12411442; 12427015; 12445801; 12477932; 12574335; 12603824; 12651610; 12679478; 14582706; 14673550; 14718574; 14746807; 14761932; 15067078; 15142381; 15481145; 15489334; 15529362; 15585099; 15588341; 15638726; 15645140; 15780175; 15817944; 15831560; 15843566; 15897346; 16160188; 16354571; 16379602; 16393999; 16625196; 16697675; 16773571; 16841089; 16963564; 17005260; 17330138; 17431094; 17644519; 17703412; 17765942; 18076643; 18203956; 18346864; 18368065; 18623207; 18802359; 19047106; 19057841; 19074730; 19103522; 19234184; 19258923; 19328808; 19358850; 19565503; 19620252; 19841187; 19846870; 19917679; 20056178; 20200978; 20380698; 20403075; 20482449; 20503287; 20504918; 20575639; 20598119; 20702408; 20817073; 20855878; 20952681; 20959807; 21030011; 21082024; 21264298; 21464938; 21890375; 21914058; 21978000; 22085486; 22156348; 22407921; 23152559; 23509148; 23760235; 23996681; 24116893; 24370436 chemokine (C-C motif) ligand 4 HGNC:10630 HPRD:01657 MIM:182284 Other designations: C-C motif chemokine 4|G-26 T-lymphocyte-secreted protein|MIP-1-beta(1-69)|PAT 744|SIS-gamma|T-cell activation protein 2|lymphocyte activation gene 1 protein|macrophage inflammatory protein 1-beta|secreted protein G-26|small inducible cytokine A4 (homologous to mouse Mip-1b) CCL4 Bin Zhao, Yue Liu, Oliver He D17S136E RANTES SCYA5 SIS-delta SISd TCP228 eoCP WEB: http://www.ncbi.nlm.nih.gov/gene CCL5 chemokine (C-C motif) ligand 5 6352 17q12 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0000165 (EC: IMP); GO_0002407 (EC: TAS, PMID: 18337562); GO_0002548 (EC: IC, PMID: 10660125); GO_0002676 (EC: TAS, PMID: 10488085); GO_0004435 (EC: IDA, PMID: 10734056); GO_0004672 (EC: IDA, PMID: 10734056); GO_0005515 (EC: IPI); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0005737 (EC: IEA); GO_0006468 (EC: IDA, PMID: 10734056); GO_0006816 (EC: IDA, PMID: 10734056); GO_0006874 (EC: IDA, PMID: 10734056); GO_0006887 (EC: IDA, PMID: 10734056); GO_0006935 (EC: NAS, PMID: 1380064); GO_0006954 (EC: IDA); GO_0007159 (EC: IDA, PMID: 8558019); GO_0007267 (EC: IDA, PMID: 8558019); GO_0008009 (EC: IDA, PMID: 1699135); GO_0008009 (EC: NAS, PMID: 7524281); GO_0009615 (EC: TAS, PMID: 10488085); GO_0009636 (EC: IDA, PMID: 10841574); GO_0010535 (EC: TAS, PMID: 11278738); GO_0010759 (EC: IDA, PMID: 16778803); GO_0010820 (EC: IDA, PMID: 16778803); GO_0014068 (EC: IDA, PMID: 7544376); GO_0014911 (EC: IDA); GO_0016004 (EC: IDA, PMID: 10734056); GO_0030298 (EC: IDA, PMID: 10488085); GO_0030335 (EC: IDA, PMID: 7545673); GO_0031328 (EC: IDA, PMID: 18337562); GO_0031584 (EC: IDA, PMID: 9469451); GO_0031663 (EC: IDA); GO_0031726 (EC: IDA, PMID: 10910894); GO_0031726 (EC: IPI, PMID: 10660125); GO_0031726 (EC: TAS, PMID: 9417081); GO_0031729 (EC: TAS, PMID: 9417081); GO_0031730 (EC: IPI, PMID: 9139699); GO_0033634 (EC: IDA, PMID: 8558019); GO_0034112 (EC: IDA, PMID: 10488085); GO_0042056 (EC: IDA, PMID: 15001559); GO_0042102 (EC: IDA, PMID: 18832695); GO_0042119 (EC: IDA, PMID: 10488085); GO_0042327 (EC: IDA, PMID: 18337562); GO_0042379 (EC: IPI, PMID: 7517217); GO_0042531 (EC: IDA, PMID: 9417081); GO_0042803 (EC: IDA, PMID: 10488085); GO_0043491 (EC: IMP); GO_0043621 (EC: IDA, PMID: 10488085); GO_0043623 (EC: IDA, PMID: 18337562); GO_0043922 (EC: IDA, PMID: 10841574); GO_0044344 (EC: IEP, PMID: 9407497); GO_0045070 (EC: TAS, PMID: 10488085); GO_0045071 (EC: IDA, PMID: 10490959); GO_0045089 (EC: TAS); GO_0045744 (EC: IDA, PMID: 10734056); GO_0045785 (EC: IDA, PMID: 10910894); GO_0045948 (EC: NAS, PMID: 18337562); GO_0046427 (EC: TAS, PMID: 11278738); GO_0046817 (EC: IDA, PMID: 8631850); GO_0048245 (EC: IDA, PMID: 16778803); GO_0048246 (EC: TAS, PMID: 18337562); GO_0048661 (EC: IDA); GO_0050679 (EC: IEA); GO_0050863 (EC: IDA, PMID: 10488085); GO_0050918 (EC: IDA, PMID: 15001559); GO_0051262 (EC: IDA, PMID: 10488085); GO_0051928 (EC: IDA, PMID: 8699119); GO_0061098 (EC: IDA, PMID: 10488085); GO_0070098 (EC: TAS, PMID: 18337562); GO_0070100 (EC: IDA, PMID: 8631850); GO_0070233 (EC: IDA, PMID: 10488085); GO_0070234 (EC: IDA, PMID: 10488085); GO_0071346 (EC: IEP, PMID: 9407497); GO_0071347 (EC: IEP, PMID: 9407497); GO_0071356 (EC: IEP, PMID: 9407497); GO_0071407 (EC: IDA); GO_0090026 (EC: IDA, PMID: 1699135); GO_2000110 (EC: IEA); GO_2000503 (EC: IDA, PMID: 7545673) PMID: 1380064; 1691736; 1699135; 2456327; 2834384; 7517217; 7524281; 7537088; 7542919; 7544376; 7545673; 7689610; 8525373; 8558019; 8573157; 8576227; 8631850; 8642344; 8663314; 8699119; 8898753; 8976200; 9009162; 9120310; 9139699; 9256481; 9289016; 9359702; 9405404; 9407497; 9417081; 9420238; 9469451; 9516414; 9517988; 9558100; 9576751; 9826729; 9889151; 10200305; 10213461; 10221653; 10415069; 10477718; 10488085; 10490959; 10583963; 10640778; 10644351; 10660125; 10713092; 10734056; 10770925; 10774549; 10775626; 10820198; 10841574; 10872839; 10882583; 10910894; 10964543; 10985253; 11083865; 11116158; 11125885; 11197694; 11278738; 11313374; 11350939; 11390394; 11449371; 11500196; 11509627; 11544456; 11602715; 11750041; 11751963; 11816717; 11844139; 11878903; 11897701; 11907119; 11920567; 11929421; 11959378; 11976403; 12081195; 12089333; 12093895; 12114533; 12139952; 12154092; 12164740; 12165487; 12173306; 12200463; 12204866; 12218153; 12270118; 12359436; 12377943; 12445801; 12462338; 12475226; 12477932; 12509457; 12557141; 12610055; 12660426; 12663241; 12668159; 12753088; 12763925; 12789231; 12803993; 12819030; 12837926; 12842758; 12847218; 12858455; 12953261; 12960233; 14637022; 14647058; 14651522; 14687494; 14687706; 15001559; 15001640; 15021309; 15064621; 15067078; 15122808; 15140220; 15142381; 15192276; 15228586; 15239133; 15256089; 15265023; 15280531; 15302103; 15319853; 15368437; 15459010; 15468376; 15471370; 15481145; 15482330; 15488313; 15489334; 15500552; 15537425; 15588341; 15592421; 15602730; 15611878; 15630704; 15645140; 15715189; 15740484; 15742444; 15780175; 15781227; 15793370; 15794069; 15817944; 15848524; 15850807; 15851378; 15857508; 15863470; 15890969; 15899487; 15923218; 15971427; 15978191; 16024972; 16029496; 16032408; 16046258; 16078996; 16161154; 16206161; 16239564; 16246299; 16254204; 16314800; 16323127; 16340468; 16343773; 16354571; 16379602; 16393999; 16437690; 16441357; 16442182; 16468043; 16489254; 16507178; 16511411; 16517749; 16564576; 16614115; 16635746; 16697675; 16712791; 16719905; 16778803; 16791620; 16799229; 16807236; 16841089; 16855620; 16864713; 16864989; 16865553; 16897666; 16911685; 16988194; 16995340; 16997300; 17005260; 17015691; 17016617; 17018392; 17027916; 17038526; 17063508; 17074812; 17075265; 17076674; 17101151; 17112859; 17117952; 17192395; 17202846; 17207890; 17305874; 17328045; 17413295; 17416433; 17416748; 17417600; 17426779; 17431094; 17488389; 17494888; 17504241; 17519498; 17530998; 17540042; 17541284; 17560067; 17565659; 17585540; 17586317; 17596666; 17599774; 17620002; 17625600; 17653092; 17674321; 17678722; 17678915; 17700210; 17703412; 17711627; 17728497; 17765942; 17884183; 17909104; 17922439; 17984846; 17986095; 17989610; 17990036; 18060801; 18162936; 18186796; 18191726; 18195571; 18217191; 18218038; 18240029; 18306985; 18336625; 18337562; 18361934; 18385174; 18415893; 18426815; 18439751; 18447907; 18461620; 18559339; 18636124; 18663025; 18676680; 18678243; 18696265; 18706447; 18716401; 18790652; 18800033; 18824472; 18832695; 18936436; 18953865; 18956302; 18958622; 18986692; 19017985; 19064579; 19073147; 19080516; 19099590; 19099677; 19105348; 19122644; 19124744; 19140875; 19156204; 19157676; 19170196; 19172384; 19201454; 19201759; 19226274; 19240255; 19242540; 19247692; 19258635; 19258923; 19264973; 19333930; 19334035; 19335954; 19342158; 19347053; 19349390; 19360811; 19382425; 19416867; 19420105; 19423540; 19425063; 19427114; 19455469; 19458908; 19493460; 19524301; 19533303; 19578796; 19607806; 19625176; 19628738; 19646363; 19658300; 19661268; 19692168; 19699525; 19703339; 19730683; 19779041; 19830727; 19841187; 19846984; 19847187; 19874825; 19893003; 19913121; 19917679; 19953896; 19996575; 20038229; 20067109; 20121167; 20186291; 20203694; 20237496; 20299965; 20331378; 20378664; 20395963; 20403075; 20406964; 20430255; 20432237; 20438785; 20453000; 20484300; 20503287; 20518834; 20523058; 20531015; 20540976; 20626297; 20628086; 20685145; 20725607; 20729133; 20731692; 20732991; 20734064; 20799037; 20805685; 20861350; 20869067; 20884746; 20978355; 21054877; 21063127; 21189258; 21196302; 21252118; 21258798; 21335555; 21336628; 21356384; 21368236; 21376715; 21418786; 21454528; 21486440; 21510799; 21547257; 21575514; 21586622; 21610221; 21616095; 21617311; 21638128; 21658938; 21671175; 21701779; 21707929; 21734400; 21738469; 21827949; 21839152; 21890375; 21918813; 21921047; 21945445; 21963154; 21988832; 22085486; 22095608; 22162987; 22189589; 22205974; 22265023; 22271279; 22282655; 22300682; 22321225; 22355269; 22374185; 22380870; 22401175; 22412377; 22444510; 22447977; 22473756; 22490648; 22494696; 22506069; 22534629; 22541401; 22554651; 22576913; 22637726; 22664104; 22664781; 22691208; 22732186; 22738652; 22750227; 22797700; 22857950; 22987449; 23029252; 23039889; 23065234; 23071760; 23074171; 23152559; 23165450; 23179318; 23180368; 23190507; 23207898; 23210681; 23219091; 23267209; 23276697; 23312573; 23480650; 23490419; 23577146; 23660804; 23790189; 23818986; 23900864; 23935096; 23998932; 24053708; 24067464; 24078580; 24116893; 24133061; 24157824; 24273921 chemokine (C-C motif) ligand 5 Ensembl:ENSG00000161570 HGNC:10632 HPRD:01751 MIM:187011 Vega:OTTHUMG00000132949 Other designations: C-C motif chemokine 5|T-cell specific protein p288|beta-chemokine RANTES|eosinophil chemotactic cytokine|regulated upon activation, normally T-expressed, and presumably secreted|small inducible cytokine subfamily A (Cys-Cys), member 5 CCL5 Bin Zhao, Yue Liu, Oliver He CKb11 ELC MIP-3b MIP3B SCYA19 WEB: http://www.ncbi.nlm.nih.gov/gene CCL19 chemokine (C-C motif) ligand 19 6363 RP11-195F19.11-003 9p13 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0001768 (EC: IDA, PMID: 12729902); GO_0001771 (EC: ISS); GO_0002407 (EC: IDA, PMID: 15778365); GO_0002408 (EC: IDA, PMID: 14592837); GO_0002606 (EC: ISS); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0006874 (EC: TAS, PMID: 9153236); GO_0006954 (EC: NAS, PMID: 14592837); GO_0006955 (EC: IEA); GO_0007154 (EC: TAS, PMID: 9153236); GO_0007257 (EC: ISS); GO_0008009 (EC: IDA, PMID: 15778365); GO_0009615 (EC: TAS, PMID: 9153236); GO_0010560 (EC: ISS); GO_0014070 (EC: IEA); GO_0031295 (EC: ISS); GO_0031732 (EC: ISS); GO_0031735 (EC: IDA, PMID: 10706668); GO_0032320 (EC: ISS); GO_0032735 (EC: ISS); GO_0032760 (EC: ISS); GO_0034695 (EC: IDA, PMID: 14592837); GO_0042102 (EC: ISS); GO_0042346 (EC: IDA, PMID: 15059845); GO_0042379 (EC: IDA); GO_0043089 (EC: ISS); GO_0043123 (EC: IDA, PMID: 15059845); GO_0043552 (EC: IDA, PMID: 15059845); GO_0045627 (EC: ISS); GO_0045807 (EC: ISS); GO_0045860 (EC: IDA, PMID: 14592837); GO_0046330 (EC: IDA, PMID: 15778365); GO_0048020 (EC: IPI); GO_0048260 (EC: ISS); GO_0048469 (EC: ISS); GO_0050718 (EC: ISS); GO_0050921 (EC: ISS); GO_0051209 (EC: IDA, PMID: 14592837); GO_0051897 (EC: IDA, PMID: 15059845); GO_0060491 (EC: ISS); GO_0070374 (EC: IDA, PMID: 15778365); GO_0071731 (EC: IDA, PMID: 16249377); GO_0072610 (EC: ISS); GO_0090023 (EC: IDA); GO_0097029 (EC: ISS); GO_2000107 (EC: IDA, PMID: 15059845); GO_2000147 (EC: IDA, PMID: 15778365); GO_2000549 (EC: ISS) PMID: 9013939; 9153236; 9235955; 9498785; 9743376; 10706668; 10861057; 11869682; 11870628; 11929789; 11981810; 11994492; 12474232; 12477932; 12729902; 14592837; 14871974; 15019823; 15059845; 15489334; 15546958; 15674360; 15714581; 15778365; 16081805; 16249377; 16500130; 16678487; 16887149; 16904643; 17082584; 17182562; 17469160; 17597826; 17703412; 17709502; 17825430; 17881634; 18047937; 18240029; 18310327; 18577758; 18757429; 18838169; 19258923; 19540558; 19655301; 20002784; 20015995; 20237496; 20503287; 20592280; 20865789; 20942936; 20969772; 21139048; 21464944; 22288592; 22334704; 22976543; 23644527; 23740460; 23922113 chemokine (C-C motif) ligand 19 Ensembl:ENSG00000172724 HGNC:10617 HPRD:03750 MIM:602227 Vega:OTTHUMG00000019833 Other designations: C-C motif chemokine 19|CC chemokine ligand 19|CK beta-11|EBI1 ligand chemokine|EBI1-ligand chemokine|MIP-3-beta|beta chemokine exodus-3|beta-chemokine exodus-3|epstein-Barr virus-induced molecule 1 ligand chemokine|exodus-3|macrophage inflammatory protein 3 beta|macrophage inflammatory protein 3-beta|small inducible cytokine subfamily A (Cys-Cys), member 19|small-inducible cytokine A19 CCL19 Bin Zhao, Yue Liu, Oliver He 6Ckine CKb9 ECL SCYA21 SLC TCA4 WEB: http://www.ncbi.nlm.nih.gov/gene CCL21 chemokine (C-C motif) ligand 21 6366 RP11-195F19.22-001 9p13 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0001768 (EC: IDA, PMID: 12729902); GO_0001771 (EC: ISS); GO_0001954 (EC: IDA, PMID: 15569314); GO_0002407 (EC: IDA, PMID: 15778365); GO_0002606 (EC: ISS); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0006954 (EC: NAS, PMID: 14592837); GO_0006955 (EC: IEA); GO_0007267 (EC: TAS, PMID: 9235955); GO_0008009 (EC: IDA, PMID: 15778365); GO_0010560 (EC: ISS); GO_0030838 (EC: IDA, PMID: 11242036); GO_0031274 (EC: IDA, PMID: 11242036); GO_0031295 (EC: ISS); GO_0031529 (EC: IDA, PMID: 15569314); GO_0031732 (EC: ISS); GO_0032862 (EC: IDA, PMID: 15778365); GO_0033630 (EC: IDA, PMID: 15569314); GO_0034695 (EC: IDA, PMID: 14592837); GO_0035759 (EC: IDA, PMID: 15569314); GO_0042379 (EC: IDA); GO_0043123 (EC: IDA, PMID: 15059845); GO_0043552 (EC: IDA, PMID: 15059845); GO_0045860 (EC: IDA, PMID: 15059845); GO_0046330 (EC: IDA, PMID: 15778365); GO_0048260 (EC: ISS); GO_0048469 (EC: ISS); GO_0050921 (EC: ISS); GO_0051209 (EC: IDA, PMID: 14592837); GO_0051491 (EC: IDA, PMID: 15569314); GO_0051897 (EC: IDA, PMID: 15059845); GO_0070374 (EC: IDA, PMID: 12729902); GO_0090023 (EC: IDA); GO_0097026 (EC: ISS); GO_2000107 (EC: IDA, PMID: 15059845); GO_2000147 (EC: IDA, PMID: 15778365); GO_2000529 (EC: IDA, PMID: 14592837); GO_2000548 (EC: ISS) PMID: 9235955; 9257816; 9300671; 9419363; 9507024; 9585422; 10201891; 10706668; 10861057; 11083865; 11242036; 11929789; 11943728; 11970971; 12066416; 12393410; 12393730; 12477932; 12651610; 12707342; 12729902; 12847218; 12975309; 14517790; 14592837; 14667884; 14709406; 14726633; 14726959; 14978072; 15059845; 15073111; 15342556; 15461605; 15489334; 15546958; 15569314; 15674360; 15778365; 15863780; 15934082; 15972662; 16671092; 16713569; 16887149; 16904643; 17331965; 17460916; 17469160; 17474076; 17495955; 17881634; 17890452; 17949547; 17982129; 18240029; 18354239; 18577758; 18757429; 18794853; 18802075; 19082456; 19110536; 19180477; 19624896; 19644859; 19674979; 19750015; 19832038; 19847900; 20049410; 20219786; 20233754; 20439292; 20444755; 20453842; 20461788; 20488224; 20488940; 20498205; 20739459; 20797713; 20889506; 21464944; 21586211; 21666055; 21698152; 21900206; 21972019; 22221265; 22392503; 22427939; 22438908; 22468089; 22619482; 22884357; 22976543; 23498789; 23760102; 24035972 chemokine (C-C motif) ligand 21 Ensembl:ENSG00000137077 HGNC:10620 HPRD:04113 MIM:602737 Vega:OTTHUMG00000019838 Other designations: C-C motif chemokine 21|Efficient Chemoattractant for Lymphocytes|beta chemokine exodus-2|secondary lymphoid tissue chemokine|small inducible cytokine subfamily A (Cys-Cys), member 21 CCL21 Bin Zhao, Yue Liu, Oliver He CKA-3 GCP-2 GCP2 SCYB6 WEB: http://www.ncbi.nlm.nih.gov/gene CXCL6 chemokine (C-X-C motif) ligand 6 6372 4q13.3 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0006935 (EC: TAS, PMID: 9164944); GO_0006954 (EC: TAS, PMID: 8399143); GO_0006955 (EC: IEA); GO_0007165 (EC: TAS, PMID: 9164944); GO_0007267 (EC: TAS, PMID: 9164944); GO_0008009 (EC: IEA); GO_0008201 (EC: IEA); GO_0060326 (EC: TAS, PMID: 8399143) PMID: 8399143; 8423327; 9057843; 9164944; 9465307; 9692902; 10343098; 10593335; 12477932; 12524079; 12533683; 12591113; 12628493; 12882792; 12950257; 15214047; 15342556; 15489334; 15652347; 15815621; 17022986; 17703412; 17827342; 18240029; 18443119; 18563170; 18577758; 18782286; 18842116; 19240061; 19258923; 19369450; 20503287; 20507572; 20628624; 21236563; 22886775; 23128233; 23814098 chemokine (C-X-C motif) ligand 6 Ensembl:ENSG00000124875 HGNC:10643 HPRD:00735 MIM:138965 Vega:OTTHUMG00000130010 Other designations: C-X-C motif chemokine 6|Small inducible cytokine subfamily B (Cys-X-Cys), member b|chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)|chemokine alpha 3|granulocyte chemotactic protein 2|small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)|small-inducible cytokine B6 CXCL6 Bin Zhao, Yue Liu, Oliver He CD138 SDC SYND1 syndecan WEB: http://www.ncbi.nlm.nih.gov/gene SDC1 syndecan 1 6382 2p24.1 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0001523 (EC: TAS); GO_0001657 (EC: IEA); GO_0001948 (EC: IEA); GO_0005515 (EC: IPI, PMID: 15292202); GO_0005737 (EC: IDA); GO_0005796 (EC: TAS); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 2324102); GO_0005925 (EC: IDA); GO_0005975 (EC: TAS); GO_0006024 (EC: TAS); GO_0006027 (EC: TAS); GO_0006954 (EC: IEA); GO_0007603 (EC: TAS); GO_0008022 (EC: IPI, PMID: 16982797); GO_0008092 (EC: IEA); GO_0009636 (EC: IEA); GO_0009897 (EC: IEA); GO_0030198 (EC: TAS); GO_0030203 (EC: TAS); GO_0030204 (EC: TAS); GO_0042060 (EC: IEA); GO_0042157 (EC: TAS); GO_0042476 (EC: IEA); GO_0042542 (EC: IEA); GO_0043202 (EC: TAS); GO_0043234 (EC: IEA); GO_0044281 (EC: TAS); GO_0048627 (EC: ISS); GO_0051384 (EC: IEA); GO_0051591 (EC: IEA); GO_0051592 (EC: IEA); GO_0055002 (EC: IEP, PMID: 9566955); GO_0060009 (EC: IEA); GO_0060070 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 1339431; 1442271; 1644217; 1664683; 2173154; 2324102; 2519615; 7592855; 7592967; 7690138; 7959737; 8118875; 8125298; 8163535; 8175719; 8570206; 8889548; 9050911; 9089390; 9111037; 9294130; 9342064; 9548182; 9565572; 9566955; 9660868; 9792716; 9857223; 10497173; 10506830; 11024024; 11168765; 11179419; 11567105; 11830493; 11877089; 12091355; 12144130; 12464176; 12477932; 12660231; 12749851; 12824007; 12879463; 12885232; 12902511; 12904296; 12920224; 12947106; 12975379; 14521955; 14630925; 14637022; 14645569; 14701864; 14744776; 14972511; 15126321; 15292202; 15297422; 15383330; 15459490; 15479743; 15489334; 15648090; 15728209; 15743035; 15770719; 15886501; 15902740; 16007225; 16020957; 16132527; 16157597; 16247452; 16286510; 16341674; 16636895; 16720645; 16773719; 16778379; 16817962; 16840194; 16857657; 16884912; 16945147; 16982797; 17149710; 17314405; 17339423; 17413980; 17431390; 17455248; 17579341; 17625591; 18006945; 18029348; 18064305; 18093920; 18190591; 18378436; 18386024; 18413760; 18450428; 18450755; 18542065; 18657535; 18694404; 18957427; 18976975; 18997617; 19010933; 19020713; 19029267; 19056867; 19073610; 19107206; 19126645; 19228696; 19251947; 19255147; 19305494; 19351365; 19420730; 19450993; 19456850; 19473447; 19581738; 19596856; 19632304; 19661268; 19696445; 19735958; 19802384; 19822079; 19859083; 19860843; 19866343; 19875451; 20008145; 20013319; 20036233; 20081059; 20083849; 20097882; 20193112; 20200931; 20204274; 20237901; 20307537; 20361982; 20398359; 20430722; 20471559; 20477813; 20598296; 20683626; 20736897; 20927321; 20971705; 21139048; 21148276; 21257720; 21265098; 21317913; 21320038; 21327984; 21334435; 21414405; 21430259; 21454203; 21463121; 21623993; 21630196; 21731601; 21757697; 21772125; 21832049; 21886795; 21898481; 21906983; 21957484; 21963094; 21987572; 22024722; 22102278; 22150439; 22237752; 22238310; 22298773; 22308310; 22338054; 22351752; 22418956; 22573479; 22629140; 22672327; 22673509; 22680042; 22686587; 22714920; 22745764; 22766978; 22899717; 22905270; 22936802; 22939629; 22994707; 23066085; 23206733; 23289672; 23331867; 23408834; 23431957; 23504321; 23511033; 23545927; 23546957; 23570784; 23576506; 23729443; 23824909; 23888783; 24045542 syndecan 1 Ensembl:ENSG00000115884 HGNC:10658 HPRD:01718 MIM:186355 Vega:OTTHUMG00000090751 Other designations: CD138 antigen|heparan sulfate proteoglycan fibroblast growth factor receptor|syndecan proteoglycan 1|syndecan-1 SDC1 Bin Zhao, Yue Liu, Oliver He CD62E ELAM ELAM1 ESEL LECAM2 WEB: http://www.ncbi.nlm.nih.gov/gene SELE selectin E 6401 RP1-117P20.2 1q22-q25 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0002092 (EC: IDA, PMID: 9312078); GO_0002523 (EC: TAS, PMID: 18029551); GO_0002687 (EC: IEA); GO_0004888 (EC: IMP, PMID: 12960351); GO_0005515 (EC: IPI, PMID: 18606703); GO_0005615 (EC: IDA, PMID: 9290466); GO_0005886 (EC: TAS); GO_0005901 (EC: IDA, PMID: 12960351); GO_0005905 (EC: IDA, PMID: 18029551); GO_0006954 (EC: TAS, PMID: 2466335); GO_0007157 (EC: IMP, PMID: 18029551); GO_0007159 (EC: IDA, PMID: 7680663); GO_0007202 (EC: IMP, PMID: 12960351); GO_0007596 (EC: TAS); GO_0016021 (EC: IEA); GO_0019722 (EC: TAS, PMID: 12960351); GO_0030029 (EC: IDA, PMID: 8609175); GO_0030863 (EC: IDA, PMID: 8609175); GO_0032496 (EC: TAS, PMID: 18029551); GO_0033691 (EC: IDA, PMID: 7680663); GO_0034612 (EC: TAS, PMID: 18029551); GO_0043274 (EC: IDA, PMID: 12960351); GO_0045121 (EC: IDA, PMID: 18029551); GO_0048471 (EC: IDA, PMID: 12960351); GO_0050727 (EC: TAS, PMID: 18029551); GO_0050900 (EC: TAS); GO_0050901 (EC: IMP, PMID: 18029551); GO_0070492 (EC: IDA, PMID: 7680663); GO_0070555 (EC: IDA, PMID: 8609175) PMID: 1375831; 1689848; 1694218; 1701274; 1703529; 2466335; 7509040; 7523444; 7533025; 7536194; 7538217; 7541576; 7680663; 7681016; 7693046; 7694691; 8557254; 8609175; 8621728; 9024699; 9128259; 9269771; 9290466; 9312078; 9597096; 9920928; 9933738; 10391210; 10419878; 10477700; 10982036; 11097335; 11168027; 11341749; 11359462; 11402070; 11404363; 11466561; 11575217; 11575218; 11602579; 11697721; 11714857; 11764211; 11776680; 11827962; 11828340; 11847011; 11859093; 11882337; 11882338; 11929779; 11935152; 11936588; 11948013; 11981814; 11983205; 12011765; 12020443; 12027924; 12036529; 12082590; 12082592; 12086338; 12165498; 12172318; 12172576; 12175121; 12186696; 12200076; 12200386; 12388172; 12421968; 12477932; 12499405; 12522014; 12595908; 12626663; 12649084; 12673844; 12698264; 12738381; 12768436; 12788528; 12792758; 12820726; 12871600; 12898464; 12940514; 12960351; 14534081; 14557872; 14568956; 14587643; 14592723; 14592840; 14607629; 14691583; 14714557; 14734737; 14763917; 14984317; 14988223; 15009098; 15013273; 15076187; 15076188; 15080580; 15083893; 15086468; 15148373; 15167972; 15179350; 15187162; 15194470; 15254658; 15299021; 15304054; 15308783; 15331359; 15387376; 15488708; 15515123; 15560890; 15584003; 15593054; 15666579; 15735663; 15736116; 15784173; 15833936; 15871853; 15917220; 15979159; 16002039; 16061120; 16080806; 16269612; 16344560; 16426244; 16433632; 16501492; 16544732; 16554320; 16565092; 16710414; 16722397; 16756647; 16773720; 16820586; 16843446; 16892455; 16908800; 16916660; 16963035; 16974056; 16980970; 16982492; 17014013; 17020471; 17036337; 17057786; 17142773; 17143564; 17167725; 17372905; 17389327; 17392035; 17452460; 17515951; 17563404; 17578587; 17684030; 17706337; 17706953; 17875185; 17939599; 17954174; 17956423; 17963163; 17991470; 17996280; 18020971; 18029551; 18094708; 18182036; 18191640; 18197885; 18212564; 18217430; 18276775; 18375392; 18401566; 18484695; 18513389; 18580442; 18590706; 18593916; 18597403; 18597952; 18606703; 18611928; 18613029; 18633131; 18649056; 18676680; 18677293; 18692491; 18704886; 18707907; 18710415; 18726101; 18761727; 18791689; 18794336; 18828734; 18930765; 18973547; 18974840; 18974842; 18991188; 19021457; 19028820; 19056482; 19064610; 19118161; 19131662; 19136145; 19139603; 19170196; 19191721; 19212205; 19225544; 19237221; 19238444; 19240957; 19249917; 19263529; 19361981; 19414551; 19417018; 19420105; 19420919; 19422386; 19423540; 19479237; 19536175; 19538882; 19548631; 19559392; 19564823; 19578796; 19670701; 19692168; 19701669; 19729601; 19729612; 19885579; 19913121; 19942746; 19948975; 19949084; 19996987; 20004427; 20010946; 20044088; 20056442; 20191078; 20193033; 20227257; 20406964; 20416077; 20430730; 20438785; 20445017; 20452482; 20485444; 20495539; 20508517; 20536507; 20580062; 20587315; 20602615; 20603037; 20607758; 20622166; 20628086; 20656374; 20673868; 20680929; 20691427; 20713000; 20796317; 20833389; 20855565; 20937831; 20941749; 21099224; 21138731; 21159528; 21162967; 21286681; 21381877; 21471547; 21486700; 21521525; 21526496; 21544708; 21629188; 21659524; 21756793; 21780194; 21827804; 21881522; 22009003; 22010135; 22021370; 22025563; 22030423; 22068558; 22104155; 22158116; 22159147; 22264805; 22269951; 22271244; 22322211; 22336504; 22366582; 22384091; 22414298; 22497223; 22508864; 22533155; 22589243; 22593709; 22648254; 22718118; 22763042; 22814396; 22815813; 22820001; 22836626; 22922984; 22970241; 23015400; 23041613; 23129313; 23187956; 23190470; 23235150; 23242661; 23353989; 23442851; 23457623; 23565284; 23623010; 23855486; 23906304 selectin E Ensembl:ENSG00000007908 HGNC:10718 HPRD:00566 MIM:131210 Vega:OTTHUMG00000034851 Other designations: CD62 antigen-like family member E|E-selectin|ELAM-1|endothelial adhesion molecule 1|endothelial leukocyte adhesion molecule 1|leukocyte endothelial cell adhesion molecule 2|leukocyte-endothelial cell adhesion molecule 2 SELE Bin Zhao, Yue Liu, Oliver He FRP-2 SARP1 SDF-5 WEB: http://www.ncbi.nlm.nih.gov/gene SFRP2 secreted frizzled-related protein 2 6423 FKSG12 4q31.3 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0001569 (EC: ISS); GO_0001843 (EC: IEA); GO_0001944 (EC: IBA); GO_0001968 (EC: ISS); GO_0002063 (EC: IEA); GO_0003151 (EC: IMP, PMID: 19593212); GO_0003214 (EC: IMP, PMID: 19593212); GO_0005178 (EC: ISS); GO_0005615 (EC: IDA, PMID: 10980594); GO_0005615 (EC: ISS); GO_0005737 (EC: IBA); GO_0005886 (EC: IBA); GO_0007267 (EC: ISS); GO_0007420 (EC: IBA); GO_0007584 (EC: IEA); GO_0008284 (EC: IDA, PMID: 10980594); GO_0008285 (EC: IDA); GO_0008285 (EC: IMP, PMID: 17848950); GO_0008406 (EC: IBA); GO_0008584 (EC: IEA); GO_0009790 (EC: IBA); GO_0010577 (EC: IEA); GO_0010629 (EC: ISS, PMID: 10980594); GO_0010667 (EC: IEA); GO_0010719 (EC: IDA, PMID: 19095296); GO_0017147 (EC: IBA); GO_0030165 (EC: IBA); GO_0030178 (EC: IDA); GO_0030199 (EC: IEA); GO_0030307 (EC: ISS, PMID: 10980594); GO_0030308 (EC: IDA); GO_0030336 (EC: ISS, PMID: 10980594); GO_0030514 (EC: IEA); GO_0031012 (EC: ISS); GO_0031668 (EC: IEA); GO_0033138 (EC: ISS); GO_0033630 (EC: ISS); GO_0035413 (EC: IEA); GO_0036342 (EC: IEA); GO_0042493 (EC: IEA); GO_0042662 (EC: IEA); GO_0042733 (EC: IEA); GO_0042813 (EC: IBA); GO_0042995 (EC: IKR, Qualifier: NOT); GO_0043065 (EC: IMP, PMID: 17848950); GO_0043154 (EC: IEA); GO_0043508 (EC: IEA); GO_0045600 (EC: IDA, PMID: 12055200); GO_0045669 (EC: IEA); GO_0045766 (EC: ISS); GO_0045892 (EC: IDA, PMID: 19095296); GO_0045944 (EC: ISS); GO_0048018 (EC: ISS); GO_0048546 (EC: IEA); GO_0050680 (EC: IDA, PMID: 19095296); GO_0050732 (EC: ISS, PMID: 10980594); GO_0060028 (EC: IEA); GO_0060349 (EC: IEA); GO_0061056 (EC: ISS); GO_0061133 (EC: IEA); GO_0061185 (EC: ISS); GO_0071425 (EC: ISS); GO_0071481 (EC: IEA); GO_0090090 (EC: IDA, PMID: 17471511); GO_0090179 (EC: IEA); GO_0090244 (EC: IEA); GO_0090263 (EC: ISS); GO_1902042 (EC: IEA); GO_1902230 (EC: ISS); GO_2000035 (EC: ISS); GO_2000041 (EC: IEA) PMID: 9096311; 9391078; 9642118; 9853965; 10072424; 10654605; 10980594; 12055200; 12477932; 12975309; 14561758; 14702039; 14709558; 15094274; 15146197; 15340161; 15489334; 16303743; 16407829; 16609023; 17081983; 17352030; 17410438; 17471511; 17639423; 17848950; 18029348; 18079202; 18404682; 18497987; 18528941; 18592156; 18795670; 18990230; 19095296; 19299079; 19389651; 19453261; 19458075; 19513569; 19593212; 19926868; 19946729; 20030932; 20208569; 20403915; 20501806; 20596629; 20602801; 20682398; 20686305; 20723538; 20795789; 20811686; 21174795; 21409489; 21463549; 21490961; 21709714; 22136354; 22175903; 22246241; 22363119; 22915211; 23215838; 23226515; 24464051 secreted frizzled-related protein 2 Ensembl:ENSG00000145423 HGNC:10777 HPRD:16041 MIM:604157 Vega:OTTHUMG00000161559 Other designations: SARP-1|sFRP-2|secreted apoptosis related protein 1|secreted apoptosis-related protein 1 SFRP2 Bin Zhao, Yue Liu, Oliver He CNSA3 EEN-2B-L3 EEN-B2 HsT19371 SH3D2C SH3P13 WEB: http://www.ncbi.nlm.nih.gov/gene SH3GL3 SH3-domain GRB2-like 3 6457 15q24 20140408 9606 15 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 15383276); GO_0006897 (EC: IEA); GO_0007165 (EC: TAS, PMID: 9169142); GO_0007417 (EC: TAS, PMID: 9169142); GO_0008289 (EC: IEA); GO_0031901 (EC: IEA); GO_0042802 (EC: IPI, PMID: 16115810) PMID: 9122235; 9169142; 9238017; 9809064; 10535961; 10542231; 10764144; 10816441; 11894096; 12034747; 12135478; 12177062; 12477732; 12477932; 14551139; 15342556; 15383276; 15919751; 16115810; 16169070; 16713569; 18391950; 18391951; 18602463; 19266077; 19308258; 19807924; 20397748; 20531441; 20546612; 21139048; 21722156; 21900206; 22901147; 22998870 SH3-domain GRB2-like 3 Ensembl:ENSG00000140600 HGNC:10832 HPRD:04528 MIM:603362 Vega:OTTHUMG00000147361 Other designations: SH3 domain protein 2C|SH3 domain-containing GRB2-like protein 3|endophilin-3|endophilin-A3 SH3GL3 Bin Zhao, Yue Liu, Oliver He ATR1 CSNU1 D2H NBAT RBAT WEB: http://www.ncbi.nlm.nih.gov/gene SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 6519 2p16.3 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0003333 (EC: TAS, PMID: 10799513); GO_0003824 (EC: IEA); GO_0005515 (EC: IPI, PMID: 12167606); GO_0005743 (EC: IEA); GO_0005774 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: IEA); GO_0005975 (EC: IEA); GO_0006520 (EC: TAS, PMID: 8054986); GO_0006811 (EC: TAS); GO_0006865 (EC: TAS); GO_0015171 (EC: TAS, PMID: 10799513); GO_0015174 (EC: TAS, PMID: 8054986); GO_0015184 (EC: TAS, PMID: 8054986); GO_0015802 (EC: TAS, PMID: 8054986); GO_0015811 (EC: TAS, PMID: 8054986); GO_0016020 (EC: TAS, PMID: 8054986); GO_0031526 (EC: IDA, PMID: 12167606); GO_0043169 (EC: IEA); GO_0046982 (EC: IEA); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 7539209; 7568194; 7573036; 7575432; 7686906; 7789946; 8054986; 8125298; 8486766; 8663184; 9186880; 10574970; 10588648; 10799513; 11318953; 11458794; 11748844; 12060600; 12167606; 12234283; 12239244; 12372889; 12477932; 12820697; 14531788; 14561219; 14702039; 14991253; 15489334; 15635077; 15691362; 15815621; 15818800; 15818801; 15818802; 15913950; 16138908; 16358225; 17010017; 18195088; 18234729; 18332091; 18752446; 18778962; 19056867; 19782624; 20146678; 20800603; 21255007; 22796000; 23794250 solute carrier family 3 (amino acid transporter heavy chain), member 1 HGNC:11025 HPRD:00090 MIM:104614 Other designations: B(0,+)-type amino acid transport protein|SLC3A1 variant B|SLC3A1 variant C|SLC3A1 variant D|SLC3A1 variant E|SLC3A1 variant F|SLC3A1 variant G|amino acid transporter 1|neutral and basic amino acid transport protein rBAT|solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1|solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1|solute carrier family 3 member 1 SLC3A1 Bin Zhao, Yue Liu, Oliver He AE1 BND3 CD233 DI EMPB3 EPB3 FR RTA1A SW WD WD1 WR WEB: http://www.ncbi.nlm.nih.gov/gene SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 6521 17q21.31 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0003779 (EC: IEA); GO_0005452 (EC: TAS); GO_0005515 (EC: IPI, PMID: 16669616); GO_0005886 (EC: TAS); GO_0005887 (EC: IDA, PMID: 379653); GO_0006811 (EC: TAS); GO_0006820 (EC: IDA, PMID: 14734552); GO_0006821 (EC: ISS); GO_0006873 (EC: TAS, PMID: 8841202); GO_0008022 (EC: IEA); GO_0008509 (EC: TAS, PMID: 4027230); GO_0015108 (EC: ISS); GO_0015301 (EC: IDA, PMID: 14734552); GO_0015701 (EC: TAS); GO_0016021 (EC: NAS, PMID: 1527044); GO_0016323 (EC: IDA, PMID: 12539048); GO_0030018 (EC: ISS); GO_0030506 (EC: IPI, PMID: 379653); GO_0030863 (EC: IDA, PMID: 16669616); GO_0042803 (EC: IPI, PMID: 379653); GO_0043495 (EC: TAS, PMID: 10950304); GO_0044281 (EC: TAS); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867); GO_0072562 (EC: IDA); GO_1902476 (EC: ISS) PMID: 379653; 695442; 701248; 1352774; 1378323; 1471983; 1520883; 1527044; 1538405; 1639060; 1678289; 1722314; 1737855; 1824272; 1885574; 1998697; 2065070; 2575590; 2594752; 2790053; 2968981; 3223947; 3372523; 3478298; 4027230; 6345535; 6449514; 6615451; 7479704; 7506871; 7530501; 7626035; 7774942; 7812009; 7902326; 7919393; 7949112; 8045253; 8168533; 8206915; 8227202; 8282779; 8343110; 8434259; 8471774; 8508760; 8527430; 8547122; 8567957; 8578746; 8640229; 8693505; 8704215; 8808627; 8841202; 8943874; 8960772; 9012689; 9191821; 9207478; 9233560; 9312167; 9422766; 9454576; 9600966; 9709005; 9709782; 9734643; 9765907; 9774471; 9845551; 9854053; 9973643; 10364201; 10605028; 10820026; 10926824; 10942405; 10942416; 10950304; 11049968; 11063570; 11155072; 11208088; 11208611; 11380459; 11606574; 11756190; 11831035; 11842009; 11844997; 11876646; 11934690; 11994299; 12070037; 12087557; 12101015; 12149479; 12175337; 12227829; 12446737; 12466935; 12477932; 12482865; 12482869; 12531814; 12539048; 12578372; 12813056; 12898519; 12933803; 12938018; 14570914; 14604989; 14640982; 14654610; 14695625; 14734552; 14736961; 14769040; 15039022; 15067510; 15087282; 15121092; 15182940; 15211439; 15252044; 15310273; 15478802; 15489334; 15500919; 15653731; 15811326; 15813913; 15847654; 15907563; 16013436; 16107207; 16118313; 16227998; 16229454; 16252102; 16392641; 16411779; 16420521; 16669616; 16700540; 16718373; 16762928; 16849697; 16914912; 16960783; 17027918; 17128827; 17137217; 17205967; 17317744; 17361021; 17408468; 17453414; 17533027; 17553790; 17554061; 17652430; 17854772; 17941824; 17971901; 18160114; 18266205; 18358003; 18524859; 18714043; 18778682; 18945214; 18979639; 19029645; 19056867; 19071041; 19229254; 19238475; 19289107; 19294450; 19330352; 19438409; 19460752; 19564639; 19625994; 19722686; 19846781; 19907019; 19913121; 20005958; 20007969; 20015879; 20035734; 20062076; 20068363; 20100494; 20132789; 20151848; 20346715; 20424473; 20561513; 20576809; 20628050; 20628086; 20691413; 20799361; 20825599; 20828148; 20833140; 20932077; 20960171; 21039340; 21209359; 21246053; 21257764; 21300752; 21455273; 21493712; 21527529; 21543742; 21649639; 21695904; 21761435; 21871436; 22016805; 22126643; 22155194; 22170767; 22214711; 22426110; 22518001; 22580993; 22609520; 22861190; 22919024; 23013433; 23219802; 23251661; 23255290; 23460825; 23583773; 23842529; 23846695; 23878048; 24121512; 24252324 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) Ensembl:ENSG00000004939 HGNC:11027 HPRD:00175 MIM:109270 Vega:OTTHUMG00000156843 Other designations: Diego blood group|Froese blood group|Swann blood group|Waldner blood group|Wright blood group|anion exchange protein 1|anion exchanger 1|anion exchanger-1|band 3 anion transport protein|erythrocyte membrane protein band 3|erythroid anion exchange protein|solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)|solute carrier family 4, anion exchanger, number 1 SLC4A1 Bin Zhao, Yue Liu, Oliver He AE2 BND3L EPB3L1 HKB3 NBND3 WEB: http://www.ncbi.nlm.nih.gov/gene SLC4A2 solute carrier family 4 (anion exchanger), member 2 6522 7q36.1 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0005452 (EC: IEA); GO_0005886 (EC: TAS); GO_0006811 (EC: TAS); GO_0006820 (EC: TAS, PMID: 3015590); GO_0008509 (EC: TAS, PMID: 3015590); GO_0015108 (EC: IEA); GO_0015701 (EC: TAS); GO_0016020 (EC: TAS, PMID: 3015590); GO_0016021 (EC: IEA); GO_0016323 (EC: IEA); GO_0055085 (EC: TAS) PMID: 1562608; 2968981; 3015590; 3020980; 7626035; 7984058; 8434259; 8889548; 9027488; 9477304; 9587054; 10452823; 10491290; 10491633; 10577919; 10623603; 10820026; 11156694; 11208611; 11248201; 11842009; 11852051; 12225956; 12477932; 14575719; 15489334; 16344560; 17058451; 17652430; 18438347; 18676680; 18781797; 18930330; 19170196; 19224338; 19491853; 19625176; 19692168; 19913121; 20180022; 20379614; 20424473; 20628086; 21139048; 21594562; 21691115; 21890473; 21906983; 21963094; 21987572; 22053931; 22383162; 22802585; 23121767; 23275563 solute carrier family 4 (anion exchanger), member 2 Ensembl:ENSG00000164889 HGNC:11028 HPRD:02728 MIM:109280 Vega:OTTHUMG00000158443 Other designations: AE 2|anion exchange protein 2|anion exchanger 2 type a|anion exchanger 2 type b1|anion exchanger 2 type b2|erythrocyte membrane protein band 3-like 1|non-erythroid band 3-like protein|solute carrier family 4 member 2 SLC4A2 Bin Zhao, Yue Liu, Oliver He SGLT2 WEB: http://www.ncbi.nlm.nih.gov/gene SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2 6524 16p11.2 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0005362 (EC: TAS, PMID: 8244402); GO_0005886 (EC: TAS); GO_0005975 (EC: TAS, PMID: 8244402); GO_0006810 (EC: TAS, PMID: 8244402); GO_0015758 (EC: TAS, PMID: 8244402); GO_0016021 (EC: IEA); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 1415574; 8244402; 12436245; 12477932; 14569097; 14614622; 14702039; 15610225; 17505558; 18622023; 19056867; 20965718; 20980548; 21048164; 21165652; 21410690; 21830867; 22079028; 22314875; 22528597; 22673616; 23508966; 23651029; 23714218 solute carrier family 5 (sodium/glucose cotransporter), member 2 Ensembl:ENSG00000140675 HGNC:11037 HPRD:08919 MIM:182381 Vega:OTTHUMG00000176620 Other designations: Na(+)/glucose cotransporter 2|low affinity sodium-glucose cotransporter|sodium/glucose cotransporter 2|solute carrier family 5 (sodium/glucose transporter), member 2|solute carrier family 5 member 2 SLC5A2 Bin Zhao, Yue Liu, Oliver He NCX1 WEB: http://www.ncbi.nlm.nih.gov/gene SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 6546 2p22.1 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0001892 (EC: IEA); GO_0002026 (EC: IC, PMID: 19481548); GO_0002026 (EC: ISS); GO_0002027 (EC: ISS); GO_0003007 (EC: IEA); GO_0005432 (EC: IDA, PMID: 1374913); GO_0005516 (EC: IEA); GO_0005886 (EC: TAS, PMID: 19095005); GO_0005887 (EC: IDA, PMID: 1374913); GO_0006811 (EC: TAS); GO_0006936 (EC: TAS, PMID: 1374913); GO_0007596 (EC: TAS); GO_0008092 (EC: IDA, PMID: 16292983); GO_0009791 (EC: IEA); GO_0010881 (EC: ISS); GO_0014704 (EC: ISS); GO_0014829 (EC: ISS); GO_0016323 (EC: IEA); GO_0030018 (EC: ISS); GO_0030315 (EC: ISS); GO_0030506 (EC: IPI, PMID: 17178715); GO_0030506 (EC: ISS); GO_0034614 (EC: IDA, PMID: 19481548); GO_0035050 (EC: IEA); GO_0042383 (EC: ISS); GO_0044325 (EC: ISS); GO_0044557 (EC: ISS); GO_0046872 (EC: IEA); GO_0048747 (EC: IEA); GO_0051481 (EC: ISS); GO_0055013 (EC: ISS); GO_0055074 (EC: ISS); GO_0055085 (EC: TAS); GO_0055119 (EC: IC, PMID: 19481548); GO_0060048 (EC: IEA); GO_0060401 (EC: TAS, PMID: 19095005); GO_0060402 (EC: ISS); GO_0070509 (EC: IDA, PMID: 1374913); GO_0071313 (EC: ISS); GO_0071436 (EC: IDA, PMID: 19481548); GO_0086064 (EC: ISS); GO_0097369 (EC: IDA, PMID: 1374913); GO_1901660 (EC: IDA, PMID: 19481548) PMID: 1374913; 1476165; 1559714; 1647256; 8485996; 8790037; 8921376; 9516469; 9847074; 10536662; 11241183; 11350050; 11821059; 11916852; 12031969; 12477932; 12502539; 14593108; 14702039; 14736881; 14981087; 15033764; 15475962; 15557343; 15703175; 15785003; 15824464; 16292983; 16314582; 16399865; 16679322; 16921169; 17178715; 17541957; 17846126; 17912271; 18635667; 18660489; 18996841; 19095005; 19481548; 19541636; 19830548; 20018762; 20109173; 20173311; 20379614; 20424473; 21126331; 21321244; 21382638; 21613675; 21790537; 21833492; 21858195; 21873429; 21930298; 22270364; 22456474; 22479505; 22628157; 22726844; 22842068; 23069678; 23192947; 23224869; 23224872; 23224875; 23224883; 23224887; 23224890; 23224891; 23224892; 23251661; 23376057; 23563609; 23913256 solute carrier family 8 (sodium/calcium exchanger), member 1 Ensembl:ENSG00000183023 HGNC:11068 HPRD:01659 MIM:182305 Other designations: Na(+)/Ca(2+)-exchange protein 1|Na+/Ca++ exchanger|Na+/Ca2+ exchanger|sodium/calcium exchanger 1|solute carrier family 8 member 1 SLC8A1 Bin Zhao, Yue Liu, Oliver He NHE3 WEB: http://www.ncbi.nlm.nih.gov/gene SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 6550 5p15.3 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 16159897); GO_0005886 (EC: IDA); GO_0005886 (EC: ISS); GO_0005886 (EC: TAS); GO_0005903 (EC: ISS); GO_0006811 (EC: TAS); GO_0006885 (EC: IEA); GO_0009986 (EC: ISS); GO_0015385 (EC: ISS); GO_0016021 (EC: IEA); GO_0016324 (EC: IEA); GO_0030165 (EC: ISS); GO_0031526 (EC: ISS); GO_0035725 (EC: ISS); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 1577762; 7631746; 8096830; 8795445; 8843774; 8901634; 9748260; 10364184; 10452823; 10506918; 11408268; 11841999; 12167607; 12397398; 12477932; 12542207; 12576672; 12665801; 12763917; 12799307; 14531806; 14580213; 15070904; 15197272; 15201541; 15342556; 15489334; 15531580; 15754324; 15911629; 16159897; 16293618; 16421216; 16464174; 16760259; 16971495; 17276988; 17307723; 17540780; 17881426; 18085326; 18433466; 18614797; 18801914; 19056765; 19056867; 19088451; 19303862; 19338654; 19389806; 19460752; 19473983; 19479940; 19535329; 19772970; 19854014; 19913121; 19926819; 20080968; 20424473; 20628086; 20691413; 20967843; 21832242; 22447429; 22466613; 23086913; 23128233; 23324582; 23370527; 23612977; 23769829; 23784542; 23810111; 24250222 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 Ensembl:ENSG00000066230 HGNC:11073 HPRD:01660 MIM:182307 Vega:OTTHUMG00000090315 Other designations: NHE-3|Na(+)/H(+) exchanger 3|sodium/hydrogen exchanger 3|solute carrier family 9 (sodium/hydrogen exchanger)|solute carrier family 9 (sodium/hydrogen exchanger), member 3|solute carrier family 9 member 3 SLC9A3 Bin Zhao, Yue Liu, Oliver He BSC1 NKCC2 WEB: http://www.ncbi.nlm.nih.gov/gene SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 6557 15q15-q21.1 20140408 9606 15 protein-coding Official from a nomenclature committee GO_0005886 (EC: TAS); GO_0006810 (EC: TAS, PMID: 8640224); GO_0006811 (EC: TAS); GO_0006813 (EC: IEA); GO_0006814 (EC: IEA); GO_0006821 (EC: TAS, PMID: 8640224); GO_0008511 (EC: TAS, PMID: 8640224); GO_0016020 (EC: TAS, PMID: 7929272); GO_0016021 (EC: IEA); GO_0034220 (EC: ISS); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 15326289); GO_1902476 (EC: TAS, PMID: 8640224) PMID: 7929272; 8589530; 8640224; 9355073; 9585600; 9655365; 9672238; 11509477; 11564973; 12386165; 12471046; 12477932; 12761241; 14528028; 14967834; 15167446; 15326289; 16344560; 16807401; 16832045; 17460608; 17998760; 18391953; 18495801; 18830715; 19058262; 19096086; 19513753; 19913121; 20146722; 20196086; 20219833; 20424473; 20628086; 20819979; 21209010; 21321328; 21613606; 21631963; 21867980; 22211456; 22388656; 22989884; 23325410; 23934736 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 Ensembl:ENSG00000074803 HGNC:10910 HPRD:02908 MIM:600839 Vega:OTTHUMG00000131495 Other designations: NKCC2A variant A|Na-K-2Cl cotransporter|bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2|kidney-specific Na-K-Cl symporter|solute carrier family 12 (sodium/potassium/chloride transporters), member 1|solute carrier family 12 member 1 SLC12A1 Bin Zhao, Yue Liu, Oliver He NCC NCCT TSC WEB: http://www.ncbi.nlm.nih.gov/gene SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3 6559 16q13 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0005215 (EC: ISS); GO_0005515 (EC: IPI); GO_0005829 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 8670281); GO_0006810 (EC: TAS, PMID: 8528245); GO_0006811 (EC: TAS); GO_0006814 (EC: ISS); GO_0006821 (EC: TAS, PMID: 8528245); GO_0015378 (EC: TAS, PMID: 8528245); GO_0016020 (EC: TAS, PMID: 8670281); GO_0016324 (EC: IDA); GO_0016324 (EC: ISS); GO_0035725 (EC: ISS); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867); GO_1902476 (EC: TAS, PMID: 8528245) PMID: 8125298; 8528245; 8670281; 8812482; 8954067; 9596079; 11076863; 11564973; 11832422; 11893344; 12477932; 12515852; 12686679; 14578305; 14655226; 14675033; 14766743; 15069170; 15102966; 15309683; 15480096; 15824464; 15915338; 16221718; 16505253; 16688122; 16887815; 17159356; 17329572; 17460608; 17653210; 17654016; 17873326; 17885550; 17954289; 17975670; 17981812; 17997379; 18067089; 18263927; 18270262; 18287808; 18362449; 18391953; 18469313; 18496130; 18580052; 19033254; 19056867; 19207868; 19420906; 19451210; 19489442; 19668106; 19779464; 19875813; 19913121; 20031564; 20379614; 20628086; 20675610; 20889219; 21051746; 21161146; 21164023; 21196779; 21415153; 21613606; 21631963; 21644207; 21644212; 21753071; 21852580; 21987572; 22009145; 22027832; 22406640; 22627394; 22679066; 23079845; 23156397; 23482560; 23505323; 23833262; 24026181 solute carrier family 12 (sodium/chloride transporter), member 3 Ensembl:ENSG00000070915 HGNC:10912 HPRD:02984 MIM:600968 Vega:OTTHUMG00000133284 Other designations: Na-Cl cotransporter|Na-Cl symporter|NaCl electroneutral thiazide-sensitive cotransporter|solute carrier family 12 member 3|thiazide-sensitive Na-Cl cotransporter|thiazide-sensitive sodium-chloride cotransporter SLC12A3 Bin Zhao, Yue Liu, Oliver He NAS1 NaSi-1 WEB: http://www.ncbi.nlm.nih.gov/gene SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1 6561 7q31.32 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0005886 (EC: TAS); GO_0015382 (EC: IEA); GO_0016021 (EC: IEA); GO_0055085 (EC: TAS) PMID: 11161786; 12477932; 12690205; 12853948; 12857732; 12867358; 14702039; 16211368; 19401682; 20670164; 23648065 solute carrier family 13 (sodium/sulfate symporter), member 1 Ensembl:ENSG00000081800 HGNC:10916 HPRD:08394 MIM:606193 Vega:OTTHUMG00000157087 Other designations: Na(+)/sulfate cotransporter|hNaSi-1|renal sodium/sulfate cotransporter|solute carrier family 13 (sodium/sulfate symporters), member 1|solute carrier family 13 (sodium/sulphate symporters), member 1|solute carrier family 13 member 1 SLC13A1 Bin Zhao, Yue Liu, Oliver He HUT11 HsT1341 JK RACH1 RACH2 UT-B1 UT1 UTE WEB: http://www.ncbi.nlm.nih.gov/gene SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group) 6563 18q11-q12 20140408 9606 18 protein-coding Official from a nomenclature committee GO_0005372 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 7989337); GO_0015204 (EC: IEA); GO_0015840 (EC: TAS, PMID: 7989337); GO_0016323 (EC: IEA); GO_0055085 (EC: TAS) PMID: 2890568; 7797558; 7989337; 8573795; 8647271; 9215669; 9582331; 9734652; 10514515; 10644814; 10942407; 11435423; 11807016; 11841450; 11852461; 12093813; 12477932; 14702039; 14985236; 15754970; 15783300; 16344560; 18067501; 18510579; 18713105; 18997004; 19175544; 19926813; 20379614; 20424473; 20431033; 20560530; 21309779; 21750109; 21824976; 22223368; 22733730; 22738189; 23486518; 23552862; 23710545; 23754249 solute carrier family 14 (urea transporter), member 1 (Kidd blood group) Ensembl:ENSG00000141469 HGNC:10918 HPRD:00195 MIM:613868 Vega:OTTHUMG00000132617 Other designations: Kidd blood group|SLC14A1 JK|urea transporter 1|urea transporter JK glycoprotein|urea transporter, erythrocyte|urea transporter-B1 SLC14A1 Bin Zhao, Yue Liu, Oliver He NAPI-1 NPT-1 NPT1 WEB: http://www.ncbi.nlm.nih.gov/gene SLC17A1 solute carrier family 17 (organic anion transporter), member 1 6568 6p22.2 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 8288239); GO_0006811 (EC: TAS); GO_0006814 (EC: IEA); GO_0006817 (EC: TAS, PMID: 8867793); GO_0015293 (EC: IEA); GO_0015321 (EC: TAS, PMID: 8867793); GO_0016020 (EC: TAS, PMID: 8288239); GO_0044341 (EC: TAS, PMID: 8867793); GO_0046415 (EC: IMP, PMID: 19503597); GO_0055085 (EC: TAS) PMID: 7826357; 8288239; 8867793; 9545579; 9781053; 10733936; 11704559; 12477932; 14531806; 19084217; 19204726; 19503597; 19556210; 19571809; 19890391; 20162742; 20566650; 20884846; 20927387; 21149283; 21208937; 21983786; 22541845; 23263486; 23852697; 23876149 solute carrier family 17 (organic anion transporter), member 1 Ensembl:ENSG00000124568 HGNC:10929 HPRD:01661 MIM:182308 Vega:OTTHUMG00000016297 Other designations: Na(+)/PI cotransporter 1|na/Pi-4|renal Na(+)-dependent phosphate cotransporter 1|renal sodium-dependent phosphate transport protein 1|renal sodium-phosphate transport protein 1|sodium phosphate transporter|sodium-dependent phosphate transport protein 1|sodium/phosphate cotransporter 1|sodium/phosphate type I cotransporter|solute carrier family 17 (sodium phosphate), member 1|solute carrier family 17 (vesicular glutamate transporter), member 1|solute carrier family 17 member 1 SLC17A1 Bin Zhao, Yue Liu, Oliver He FRTS2 NAPI-3 NPHLOP1 NPT2 NPTIIa SLC11 SLC17A2 WEB: http://www.ncbi.nlm.nih.gov/gene SLC34A1 solute carrier family 34 (type II sodium/phosphate contransporter), member 1 6569 5q35 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0001503 (EC: IEA); GO_0001822 (EC: IEA); GO_0005515 (EC: IPI, PMID: 17895247); GO_0005768 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: NAS, PMID: 8327470); GO_0006811 (EC: TAS); GO_0006814 (EC: IEA); GO_0006817 (EC: IDA, PMID: 8327470); GO_0009100 (EC: IEA); GO_0009986 (EC: IEA); GO_0010288 (EC: IDA, PMID: 8898024); GO_0015293 (EC: IEA); GO_0015321 (EC: IDA, PMID: 8327470); GO_0016323 (EC: IEA); GO_0016324 (EC: IEA); GO_0030165 (EC: IEA); GO_0031526 (EC: ISS); GO_0031526 (EC: NAS, PMID: 8693007); GO_0032026 (EC: IEA); GO_0032355 (EC: IEA); GO_0032403 (EC: IEA); GO_0033189 (EC: IEA); GO_0035864 (EC: IEA); GO_0042431 (EC: IEA); GO_0042493 (EC: IEA); GO_0042803 (EC: IEA); GO_0045121 (EC: IEA); GO_0045838 (EC: IEA); GO_0046686 (EC: IDA, PMID: 8898024); GO_0046689 (EC: IDA, PMID: 8898024); GO_0046849 (EC: IEA); GO_0048471 (EC: IEA); GO_0051260 (EC: IEA); GO_0055062 (EC: IDA, PMID: 8327470); GO_0055085 (EC: TAS); GO_0060416 (EC: IEA); GO_0071248 (EC: IEA); GO_0071374 (EC: IEA); GO_0072350 (EC: IEA); GO_0072734 (EC: IEA); GO_0097066 (EC: IEA); GO_0097187 (EC: IEA); GO_1901128 (EC: IEA); GO_1901684 (EC: IEA); GO_2000120 (EC: IEA); GO_2000187 (EC: IEA) PMID: 8188224; 8327470; 8693007; 8898024; 9210418; 9530108; 9683733; 11099500; 11880379; 12324554; 12477932; 12674325; 12952859; 14558883; 14672348; 14694264; 14702039; 15342556; 15504898; 15613617; 16105044; 16688119; 16955105; 17895247; 20335586; 20383146; 20558539; 21597970; 22396660; 22506049; 22703881; 23313484; 24068962 solute carrier family 34 (type II sodium/phosphate contransporter), member 1 Ensembl:ENSG00000131183 HGNC:11019 HPRD:08918 MIM:182309 Vega:OTTHUMG00000130857 Other designations: Na(+)-dependent phosphate cotransporter 2A|Na(+)/Pi cotransporter 2A|Na+-phosphate cotransporter type II|naPi-2a|renal sodium-dependent phosphate transporter|sodium-dependent phosphate transport protein 2A|sodium-phosphate transport protein 2A|sodium/phosphate co-transporter|sodium/phosphate cotransporter 2A|solute carrier family 17 (sodium phosphate), member 2|solute carrier family 34 (sodium phosphate), member 1|solute carrier family 34 member 1 SLC34A1 Bin Zhao, Yue Liu, Oliver He ALK1 ALP BLPI HUSI HUSI-I MPI WAP4 WFDC4 WEB: http://www.ncbi.nlm.nih.gov/gene SLPI secretory leukocyte peptidase inhibitor 6590 20q12 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0004866 (EC: TAS, PMID: 3485543); GO_0004867 (EC: IEA); GO_0005515 (EC: IPI, PMID: 19333378); GO_0010951 (EC: TAS, PMID: 3485543); GO_0019899 (EC: IPI, PMID: 19333378); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0032091 (EC: IDA, PMID: 19333378); GO_0045071 (EC: IDA, PMID: 19333378); GO_0070062 (EC: IDA, PMID: 19199708) PMID: 1674946; 2039600; 2110563; 3060147; 3366116; 3462719; 3485543; 3533531; 3640338; 7515550; 7539415; 8573092; 9456660; 9843921; 10355635; 10548568; 10598905; 10702419; 10704052; 10799472; 10833481; 10869562; 11170993; 11435427; 11667971; 11759111; 11780052; 11817677; 11868825; 11912282; 12023766; 12023969; 12183536; 12206714; 12351521; 12355371; 12392704; 12477932; 12526812; 12732717; 12759437; 12819058; 12874244; 12934194; 15015603; 15020232; 15039315; 15039364; 15155685; 15167969; 15248236; 15315966; 15489334; 15492784; 15650263; 15812165; 15858026; 16015083; 16355004; 16384861; 16776851; 16928883; 17371258; 17878156; 17964057; 18075823; 18173453; 18285402; 18425362; 18667508; 18688858; 18953959; 18976018; 19039956; 19095674; 19154415; 19199708; 19254589; 19271144; 19333378; 19900269; 20047904; 20068074; 20378727; 21077989; 21335488; 21377455; 21503571; 21641406; 21676452; 21687932; 21940052; 22493362; 22537232; 22786767; 23996702 secretory leukocyte peptidase inhibitor Ensembl:ENSG00000124107 HGNC:11092 HPRD:00121 MIM:107285 Vega:OTTHUMG00000033075 Other designations: HUSI-1|WAP four-disulfide core domain protein 4|antileukoproteinase|mucus proteinase inhibitor|protease inhibitor WAP4|secretory leukocyte protease inhibitor (antileukoproteinase)|seminal proteinase inhibitor SLPI Bin Zhao, Yue Liu, Oliver He EC-SOD WEB: http://www.ncbi.nlm.nih.gov/gene SOD3 superoxide dismutase 3, extracellular 6649 4p15.2 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0001666 (EC: IEA); GO_0004784 (EC: IBA); GO_0004784 (EC: TAS); GO_0005507 (EC: IBA); GO_0005515 (EC: IPI, PMID: 15528465); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA); GO_0005634 (EC: IBA); GO_0005739 (EC: IBA); GO_0005796 (EC: TAS); GO_0005802 (EC: IEA); GO_0005829 (EC: IBA); GO_0008201 (EC: IEA); GO_0008270 (EC: IBA); GO_0019430 (EC: IBA); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0046688 (EC: IEA) PMID: 1477980; 1505778; 2106874; 2276747; 3476950; 6541229; 7662997; 7959763; 8034674; 8546689; 8694786; 8864862; 8889548; 10329680; 11299047; 11861638; 12052468; 12126755; 12475988; 12477932; 12663605; 12815947; 12830380; 14592844; 14619883; 14662715; 14704872; 14736885; 14975589; 15044467; 15166009; 15223067; 15489334; 15528465; 15761197; 15869407; 15899505; 15990193; 16014615; 16100289; 16335952; 16344560; 16399992; 16467073; 16469315; 16540901; 16611809; 16792821; 16809550; 16842247; 16899934; 17023265; 17070542; 17296902; 17601350; 17646272; 17679946; 17717013; 17937792; 18160848; 18165226; 18314536; 18385137; 18599502; 18676680; 18682580; 18703790; 18720901; 18726685; 18948423; 18971527; 18977241; 19016244; 19108943; 19170196; 19200140; 19213780; 19242068; 19289127; 19318538; 19390575; 19423521; 19423540; 19488773; 19495415; 19505917; 19526392; 19533864; 19625176; 19636420; 19692168; 19705749; 19789190; 19811392; 19913121; 19933216; 19948975; 20079429; 20226522; 20237496; 20406964; 20438785; 20452482; 20477822; 20485444; 20514411; 20576801; 20600835; 20628086; 20673035; 20673868; 20800603; 20966810; 21077177; 21077778; 21080077; 21351093; 21362472; 21493784; 21554548; 21621610; 21641397; 21781513; 21957979; 22064654; 22132904; 22217996; 22313459; 22432908; 22816678; 22836756; 22958044; 23027624; 23160801; 23241403; 23289810; 23318435; 23377640; 23620962; 23977988; 24038157 superoxide dismutase 3, extracellular Ensembl:ENSG00000109610 HGNC:11181 HPRD:01708 MIM:185490 Vega:OTTHUMG00000128565 Other designations: extracellular superoxide dismutase [Cu-Zn] SOD3 Bin Zhao, Yue Liu, Oliver He CMD1 CMPD1 SRA1 WEB: http://www.ncbi.nlm.nih.gov/gene SOX9 SRY (sex determining region Y)-box 9 6662 17q24.3 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0001046 (EC: IDA); GO_0001077 (EC: IDA); GO_0001158 (EC: ISS); GO_0001501 (EC: IMP, PMID: 8640233); GO_0001502 (EC: ISS); GO_0001503 (EC: IEA); GO_0001658 (EC: IEA); GO_0001708 (EC: ISS); GO_0001837 (EC: ISS); GO_0001894 (EC: ISS); GO_0001934 (EC: ISS); GO_0001942 (EC: ISS); GO_0002053 (EC: ISS); GO_0002683 (EC: ISS); GO_0003170 (EC: ISS); GO_0003179 (EC: ISS); GO_0003188 (EC: IEA); GO_0003203 (EC: ISS); GO_0003413 (EC: IMP); GO_0003415 (EC: ISS); GO_0003682 (EC: IDA); GO_0003700 (EC: IDA, PMID: 10805756); GO_0003700 (EC: IMP, PMID: 8640233); GO_0003705 (EC: IDA); GO_0004672 (EC: ISS); GO_0005515 (EC: IPI); GO_0005634 (EC: IDA); GO_0005667 (EC: IEA); GO_0005730 (EC: IDA, Qualifier: NOT); GO_0006334 (EC: IDA); GO_0006338 (EC: IDA); GO_0006366 (EC: IDA); GO_0006461 (EC: IDA); GO_0007165 (EC: ISS); GO_0007173 (EC: ISS); GO_0007283 (EC: ISS); GO_0008013 (EC: IEA); GO_0008284 (EC: IMP); GO_0008584 (EC: IEP, PMID: 17848411); GO_0008584 (EC: IMP, PMID: 8640233); GO_0010564 (EC: IMP, PMID: 12420222); GO_0010634 (EC: IMP); GO_0014032 (EC: IEA); GO_0014068 (EC: ISS); GO_0019100 (EC: ISS); GO_0019933 (EC: IDA, PMID: 10805756); GO_0030155 (EC: IEA); GO_0030198 (EC: IEA); GO_0030279 (EC: ISS); GO_0030502 (EC: IEA); GO_0030850 (EC: IEP); GO_0030858 (EC: ISS); GO_0030879 (EC: IEA); GO_0030903 (EC: IEA); GO_0030916 (EC: ISS); GO_0031018 (EC: IEA); GO_0032331 (EC: ISS); GO_0032332 (EC: IDA); GO_0032332 (EC: IMP); GO_0034236 (EC: IPI, PMID: 10805756); GO_0035019 (EC: ISS); GO_0035326 (EC: IDA, PMID: 10805756); GO_0035622 (EC: IEA); GO_0042127 (EC: ISS); GO_0042981 (EC: ISS); GO_0043066 (EC: IMP); GO_0043066 (EC: ISS); GO_0043234 (EC: IDA); GO_0043425 (EC: IEA); GO_0043491 (EC: IEA); GO_0045662 (EC: ISS); GO_0045732 (EC: IEA); GO_0045892 (EC: IMP); GO_0045893 (EC: IDA, PMID: 10805756); GO_0045893 (EC: IMP); GO_0045944 (EC: IDA); GO_0046533 (EC: ISS); GO_0048709 (EC: IEA); GO_0050679 (EC: IEP); GO_0050679 (EC: ISS); GO_0050680 (EC: ISS); GO_0051216 (EC: ISS); GO_0060008 (EC: ISS); GO_0060009 (EC: IEA); GO_0060018 (EC: IEA); GO_0060041 (EC: ISS); GO_0060174 (EC: IEA); GO_0060221 (EC: ISS); GO_0060517 (EC: ISS); GO_0060729 (EC: ISS); GO_0060784 (EC: ISS); GO_0061036 (EC: IDA); GO_0061138 (EC: ISS); GO_0070168 (EC: ISS); GO_0070371 (EC: ISS); GO_0071260 (EC: ISS); GO_0071300 (EC: IEP, PMID: 12420222); GO_0071347 (EC: IEP); GO_0071364 (EC: ISS); GO_0071504 (EC: ISS); GO_0071560 (EC: IDA); GO_0072034 (EC: ISS); GO_0072190 (EC: IEA); GO_0072197 (EC: IEA); GO_0072289 (EC: ISS); GO_0090090 (EC: ISS); GO_0090103 (EC: ISS); GO_0090184 (EC: ISS); GO_0090190 (EC: ISS); GO_2000020 (EC: IDA); GO_2000138 (EC: IEA); GO_2000741 (EC: IDA) PMID: 1583645; 7485151; 7747782; 7990924; 8001137; 8348155; 8640233; 8894698; 9002675; 9143916; 9569122; 9724758; 9774680; 10446171; 10805756; 10951468; 11076045; 11323423; 11331609; 11356186; 11707075; 11754051; 11990798; 12111997; 12128229; 12136106; 12381733; 12414734; 12420222; 12477932; 12673561; 12713737; 12732631; 12783851; 12935820; 15077158; 15132997; 15192080; 15240557; 15240568; 15266301; 15456769; 15489334; 15623506; 15694126; 15781631; 15889150; 15896776; 15908194; 15922909; 16109717; 16155402; 16554309; 16791471; 17050539; 17197889; 17234760; 17277314; 17289023; 17360815; 17409199; 17532558; 17551083; 17615267; 17702866; 17848411; 17935617; 17986281; 18029348; 18077449; 18087279; 18271004; 18296708; 18333897; 18339840; 18391513; 18433381; 18512230; 18519685; 18550917; 18577562; 18628953; 18671802; 18677406; 18705695; 18794798; 18820665; 18830622; 18923447; 19019766; 19041414; 19061938; 19080707; 19113914; 19234473; 19322650; 19453261; 19463983; 19473998; 19509063; 19614725; 19637360; 19657054; 19801163; 19828133; 19845757; 19921652; 20039424; 20049725; 20098296; 20103652; 20196777; 20301211; 20301724; 20484142; 20513132; 20530484; 20569257; 20593410; 20628624; 20634891; 20651055; 20838034; 21078438; 21084857; 21139048; 21173804; 21193222; 21208124; 21284335; 21297661; 21321311; 21385068; 21412441; 21427722; 21614988; 21682576; 21693691; 21728837; 21853455; 21861142; 21869831; 21890473; 21906983; 21983268; 21988832; 21991335; 21995959; 22001757; 22051515; 22052544; 22102413; 22158061; 22209504; 22246670; 22271799; 22331131; 22385677; 22385965; 22424883; 22504420; 22515642; 22523547; 22532563; 22547066; 22570960; 22665440; 22698986; 22714060; 22761195; 22766303; 22769578; 22795539; 22846713; 22962301; 23000965; 23064448; 23064761; 23146920; 23178713; 23225119; 23253807; 23284291; 23306204; 23349860; 23408906; 23426182; 23433069; 23583560; 23618358; 23626837; 23635786; 23648064; 23671695; 23727861; 23870195; 23900217; 24014021; 24023777; 24155239 SRY (sex determining region Y)-box 9 Ensembl:ENSG00000125398 HGNC:11204 HPRD:06427 MIM:608160 Vega:OTTHUMG00000166300 Other designations: SRY (sex-determining region Y)-box 9 protein|SRY-related HMG-box, gene 9|transcription factor SOX-9 SOX9 Bin Zhao, Yue Liu, Oliver He BNSP BSPI ETA-1 OPN WEB: http://www.ncbi.nlm.nih.gov/gene SPP1 secreted phosphoprotein 1 6696 PSEC0156 4q22.1 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0001649 (EC: IEA); GO_0005125 (EC: IEA); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 15516325); GO_0006954 (EC: IEA); GO_0007155 (EC: IEA); GO_0007566 (EC: TAS, PMID: 16720713); GO_0010811 (EC: IEA); GO_0022617 (EC: TAS); GO_0030198 (EC: TAS); GO_0030593 (EC: IEA); GO_0031214 (EC: IEA); GO_0031988 (EC: IEA); GO_0033280 (EC: IDA, PMID: 16720713); GO_0042995 (EC: IEA); GO_0045177 (EC: IEA); GO_0045780 (EC: IEA); GO_0046697 (EC: TAS, PMID: 16720713); GO_0048471 (EC: IEA); GO_0048545 (EC: IEA); GO_0048685 (EC: IEA); GO_0050840 (EC: IEA) PMID: 1575754; 1729712; 1974876; 2404984; 2726470; 2736258; 2808373; 7522656; 7532190; 7592829; 7665163; 7837791; 7945249; 8195113; 8325891; 8535605; 8619474; 8663267; 8835534; 8910476; 9110174; 9547293; 9614184; 10593924; 10657301; 10673366; 10698186; 10748043; 10751402; 10766759; 10835423; 11076863; 11162551; 11375993; 11696986; 11721059; 11787071; 11801541; 11807984; 11825898; 11854181; 11861425; 11926891; 11928818; 11933203; 11940202; 11968014; 11979972; 12142743; 12377945; 12456016; 12477932; 12506143; 12527107; 12569382; 12606946; 12620651; 12640447; 12650610; 12650611; 12706004; 12761568; 12771144; 12842452; 12847283; 12879219; 12927044; 12928913; 12939547; 12949055; 12952171; 14517343; 14524533; 14534308; 14563350; 14592838; 14704150; 14706653; 14716823; 14988426; 14990565; 14996707; 15003892; 15004750; 15014008; 15019804; 15101999; 15167446; 15389974; 15479859; 15489334; 15489336; 15494684; 15501463; 15516325; 15579312; 15692970; 15696579; 15712659; 15731245; 15742429; 15742430; 15744522; 15761492; 15776015; 15845635; 15855273; 15857938; 15863395; 15868370; 15869464; 15885319; 15949549; 15954903; 15956076; 15970685; 15993098; 15998376; 15998773; 16000556; 16005200; 16009426; 16047475; 16100012; 16136472; 16145474; 16166420; 16169070; 16189514; 16199891; 16204248; 16208410; 16299231; 16303743; 16331611; 16344560; 16373617; 16381901; 16424021; 16428483; 16433860; 16489073; 16512757; 16533775; 16571650; 16614705; 16632752; 16633066; 16712791; 16713569; 16720713; 16741188; 16765311; 16786357; 16797773; 16807238; 16807684; 16817793; 16830223; 16880782; 16962083; 17005603; 17022822; 17044113; 17110905; 17130676; 17170369; 17188882; 17189522; 17227585; 17244457; 17245215; 17253181; 17289872; 17316167; 17332338; 17343740; 17360982; 17369493; 17384004; 17418101; 17439891; 17441427; 17444956; 17452979; 17464350; 17482182; 17482311; 17493236; 17496055; 17519954; 17545592; 17548669; 17565744; 17595250; 17620367; 17689681; 17696803; 17706953; 17721886; 17848618; 17852826; 17884775; 17896150; 17898038; 17938278; 17960616; 17987038; 18004082; 18037740; 18048491; 18053633; 18072945; 18079410; 18085382; 18155656; 18158320; 18160829; 18162078; 18167187; 18174176; 18178454; 18181047; 18197854; 18210151; 18210878; 18317949; 18335026; 18353318; 18388057; 18393978; 18396783; 18406574; 18410276; 18413297; 18442196; 18443355; 18459127; 18470911; 18474739; 18480255; 18493866; 18508510; 18524812; 18537194; 18549690; 18549897; 18550471; 18563556; 18593988; 18616394; 18627421; 18629582; 18651220; 18660489; 18670302; 18676742; 18682895; 18694621; 18694758; 18701136; 18722093; 18787423; 18807011; 18949741; 18952835; 18972404; 18996613; 18997126; 19010227; 19010864; 19014781; 19016748; 19017937; 19023151; 19028408; 19048398; 19076536; 19138884; 19184356; 19208558; 19212618; 19217889; 19246678; 19260859; 19281985; 19285028; 19285424; 19285954; 19287188; 19301019; 19337795; 19339987; 19340392; 19346516; 19359522; 19365701; 19366056; 19369471; 19376608; 19399415; 19400906; 19453261; 19475568; 19476604; 19528482; 19538464; 19549529; 19556240; 19562270; 19565503; 19573311; 19581305; 19593583; 19597469; 19601999; 19602039; 19603104; 19609729; 19609945; 19634115; 19638732; 19694703; 19706414; 19720619; 19740309; 19763701; 19767100; 19780053; 19781269; 19783881; 19784742; 19790060; 19798549; 19804447; 19805619; 19806573; 19813107; 19834535; 19850036; 19854170; 19885563; 19887478; 19901966; 19913121; 19948844; 19952401; 20004120; 20007708; 20008129; 20019131; 20019453; 20022267; 20037822; 20038306; 20056178; 20071328; 20074733; 20075512; 20085934; 20086024; 20101228; 20109337; 20131968; 20138033; 20144595; 20150368; 20155457; 20207476; 20219412; 20224789; 20349162; 20377868; 20378012; 20384635; 20416077; 20428925; 20453000; 20459645; 20486203; 20495387; 20501415; 20505679; 20511184; 20533542; 20545695; 20549562; 20553297; 20562127; 20576283; 20592361; 20597997; 20598232; 20625700; 20628086; 20628624; 20634891; 20638909; 20659235; 20689445; 20796249; 20819778; 20823889; 20849637; 20851233; 20863582; 20868520; 20874252; 20890897; 20921238; 20935448; 20961744; 20967421; 20967551; 20978319; 21028999; 21034455; 21044748; 21067798; 21071960; 21104439; 21152079; 21165579; 21167394; 21167650; 21174062; 21178099; 21188534; 21190594; 21207061; 21217752; 21247495; 21252118; 21263033; 21272459; 21273567; 21273622; 21290088; 21315424; 21321126; 21343932; 21365018; 21366712; 21374592; 21375772; 21397972; 21440761; 21443102; 21467192; 21469198; 21486700; 21487066; 21487672; 21501293; 21508397; 21512310; 21513757; 21520066; 21521652; 21539822; 21547579; 21556958; 21585607; 21609000; 21616556; 21630219; 21632990; 21645921; 21669963; 21673011; 21703197; 21706367; 21743018; 21763380; 21768699; 21772333; 21785824; 21796134; 21810982; 21822558; 21838826; 21842122; 21853313; 21867616; 21900386; 21909361; 21935388; 21953299; 21962803; 21963599; 21968021; 21983451; 21986140; 21988832; 21992455; 22031818; 22037483; 22037626; 22038347; 22039306; 22080623; 22093695; 22096023; 22115341; 22131818; 22158061; 22175901; 22179617; 22186244; 22207105; 22218639; 22219064; 22242114; 22261033; 22329905; 22402440; 22410369; 22421411; 22431140; 22456539; 22458913; 22461132; 22490528; 22492090; 22495819; 22499302; 22510874; 22516995; 22525502; 22530059; 22558919; 22580396; 22584029; 22591637; 22611763; 22629140; 22658130; 22675553; 22684781; 22699784; 22710694; 22711477; 22730056; 22744661; 22779921; 22784028; 22807608; 22818182; 22835614; 22844418; 22847114; 22855173; 22882568; 22895562; 22918393; 22927944; 22935225; 22960022; 22964303; 22978720; 23008732; 23033660; 23055574; 23064961; 23071279; 23072570; 23074199; 23079960; 23089492; 23097037; 23098767; 23112867; 23119061; 23122494; 23132541; 23165334; 23166604; 23203407; 23204518; 23232694; 23235966; 23244138; 23251004; 23263636; 23269624; 23274598; 23284864; 23352191; 23354516; 23361573; 23373240; 23382482; 23388534; 23407481; 23416968; 23426449; 23427088; 23437160; 23441154; 23515922; 23545719; 23589674; 23619316; 23619422; 23636305; 23652051; 23675517; 23680656; 23692545; 23717583; 23726130; 23729174; 23764959; 23774402; 23775819; 23784265; 23867349; 23880208; 23883434; 23910387; 23952692; 24084099; 24126938; 24140708; 24157812; 24188933; 24240095 secreted phosphoprotein 1 Ensembl:ENSG00000118785 HGNC:11255 HPRD:01325 MIM:166490 Vega:OTTHUMG00000130599 Other designations: SPP1/CALPHA1 fusion|early T-lymphocyte activation 1|nephropontin|osteopontin|osteopontin/immunoglobulin alpha 1 heavy chain constant region fusion protein|secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)|urinary stone protein|uropontin SPP1 Bin Zhao, Yue Liu, Oliver He STC WEB: http://www.ncbi.nlm.nih.gov/gene STC1 stanniocalcin 1 6781 8p21-p11.2 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0001503 (EC: IEA); GO_0005179 (EC: IEA); GO_0005615 (EC: IEA); GO_0005737 (EC: IEA); GO_0006874 (EC: TAS, PMID: 8700837); GO_0007166 (EC: TAS, PMID: 8700837); GO_0007267 (EC: TAS, PMID: 8700837); GO_0007566 (EC: IEA); GO_0007584 (EC: TAS, PMID: 8700837); GO_0016324 (EC: IEA); GO_0033280 (EC: IEA); GO_0046697 (EC: IEA); GO_0071320 (EC: IEA); GO_0071385 (EC: IEA); GO_0071456 (EC: IEA) PMID: 1458489; 7489828; 7892193; 8700837; 9480753; 9708804; 9794484; 10725397; 10947959; 11861508; 12223480; 12406069; 12477932; 12663264; 14500721; 14503913; 15062564; 15131261; 15149855; 15340161; 15383693; 15489334; 16109785; 16377640; 17032941; 17272771; 17395153; 17457011; 18164591; 18309109; 18355956; 18590575; 18652825; 18786506; 19267325; 19444628; 19628018; 19712479; 19913121; 20174869; 20383146; 20422040; 20484106; 20628086; 20827662; 21273618; 21465530; 21474827; 21656524; 21672207; 21720730; 22200953; 22537917; 22588538; 22589738; 22693564; 22889960; 23243022; 23263486; 23382863; 23566487; 23664860; 23667669; 23757035 stanniocalcin 1 Ensembl:ENSG00000159167 HGNC:11373 HPRD:03115 MIM:601185 Vega:OTTHUMG00000097853 Other designations: stanniocalcin-1 STC1 Bin Zhao, Yue Liu, Oliver He P65 SVP65 SYT WEB: http://www.ncbi.nlm.nih.gov/gene SYT1 synaptotagmin I 6857 12cen-q21 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0001786 (EC: IEA); GO_0005215 (EC: IEA); GO_0005509 (EC: IEA); GO_0005513 (EC: TAS, PMID: 11438518); GO_0005515 (EC: IPI, PMID: 11438518); GO_0005516 (EC: IEA); GO_0005543 (EC: TAS, PMID: 1840599); GO_0005544 (EC: IEA); GO_0005545 (EC: TAS, PMID: 11438518); GO_0005546 (EC: IEA); GO_0005886 (EC: TAS); GO_0007268 (EC: TAS); GO_0007269 (EC: TAS, PMID: 11438518); GO_0008021 (EC: TAS, PMID: 11438518); GO_0008022 (EC: IEA); GO_0014047 (EC: TAS); GO_0016021 (EC: IEA); GO_0016079 (EC: IEA); GO_0017075 (EC: TAS, PMID: 11438518); GO_0017157 (EC: TAS, PMID: 11438518); GO_0030054 (EC: IEA); GO_0030276 (EC: IEA); GO_0030666 (EC: TAS); GO_0030672 (EC: IEA); GO_0031045 (EC: IEA); GO_0031340 (EC: IEA); GO_0042584 (EC: IEA); GO_0042734 (EC: IEA); GO_0042802 (EC: IEA); GO_0043005 (EC: IEA); GO_0045956 (EC: IEA); GO_0048278 (EC: IEA); GO_0048306 (EC: IEA); GO_0050750 (EC: IDA, PMID: 15082773); GO_0051260 (EC: TAS, PMID: 11438518); GO_0060076 (EC: IEA); GO_0060201 (EC: TAS); GO_0060203 (EC: TAS); GO_0061202 (EC: TAS); GO_0070083 (EC: TAS) PMID: 1326322; 1840599; 2446925; 7553862; 7624059; 7798952; 8071310; 8087843; 8769138; 8889548; 8901523; 8999968; 9010211; 9303303; 9712836; 10397765; 10692432; 10734137; 11181737; 11242035; 11243866; 11381094; 11432880; 11438518; 11438520; 11438523; 11454741; 12062043; 12089155; 12135982; 12477932; 12750892; 14702039; 14709554; 15082773; 15466855; 15467731; 15489334; 15603740; 15919756; 16143103; 16169070; 16344560; 16525042; 17307723; 17956130; 18779938; 18937294; 19186144; 19234085; 19234194; 19284995; 19523119; 19557857; 19835837; 19926819; 19953087; 20098747; 20195357; 20222955; 20379614; 21139048; 21906983; 22360420; 22475172; 22705946; 22853901; 22890573; 22966849; 23071627; 23251661; 23341457; 23607712; 23932591; 24302762 synaptotagmin I Ensembl:ENSG00000067715 HGNC:11509 HPRD:01710 MIM:185605 Vega:OTTHUMG00000134326 Other designations: synaptotagmin 1|synaptotagmin-1|sytI SYT1 Bin Zhao, Yue Liu, Oliver He SM22 SMCC TAGLN1 WS3-10 WEB: http://www.ncbi.nlm.nih.gov/gene TAGLN transgelin 6876 11q23.2 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0003779 (EC: IEA); GO_0005515 (EC: IPI); GO_0005737 (EC: IEA); GO_0007517 (EC: TAS, PMID: 9615232); GO_0030855 (EC: IDA) PMID: 1520290; 1872880; 7788527; 8117285; 8125298; 9242426; 9276683; 9384215; 9615232; 11053353; 11773051; 12200029; 12477932; 12521938; 15489334; 16009940; 17082327; 17305610; 17353931; 17629319; 18245174; 18291675; 18378184; 18446369; 19011151; 19188659; 19329940; 19724680; 19796641; 19848416; 19913121; 20012321; 20066125; 20098441; 20336793; 20379614; 20540360; 20628086; 20705054; 20707403; 21044950; 21051832; 21092460; 21139048; 21677441; 21763649; 21943158; 22245152; 22257561; 22365974; 22939629; 23138394; 23174934; 23331552; 23538046; 23824909 transgelin Ensembl:ENSG00000149591 HGNC:11553 HPRD:02891 MIM:600818 Vega:OTTHUMG00000167067 Other designations: 22 kDa actin-binding protein|SM22-alpha|smooth muscle protein 22-alpha|transgelin variant 2 TAGLN Bin Zhao, Yue Liu, Oliver He CAFS CATCH22 CTHM DGCR DGS DORV TBX1C TGA VCF VCFS WEB: http://www.ncbi.nlm.nih.gov/gene TBX1 T-box 1 6899 22q11.21 20140408 9606 22 protein-coding Official from a nomenclature committee GO_0001525 (EC: ISS); GO_0001568 (EC: ISS); GO_0001708 (EC: ISS); GO_0001755 (EC: ISS); GO_0001934 (EC: ISS); GO_0001945 (EC: ISS); GO_0001974 (EC: IEA); GO_0002053 (EC: ISS); GO_0003007 (EC: ISS); GO_0003148 (EC: ISS); GO_0003151 (EC: ISS); GO_0003677 (EC: IDA, PMID: 17273972); GO_0003700 (EC: IDA, Qualifier: NOT, PMID: 11111039); GO_0005634 (EC: IDA, PMID: 15703190); GO_0006351 (EC: IEA); GO_0006357 (EC: ISS); GO_0006357 (EC: NAS, PMID: 9268629); GO_0007368 (EC: ISS); GO_0007389 (EC: ISS); GO_0007498 (EC: ISS); GO_0007507 (EC: IMP, PMID: 14585638); GO_0007517 (EC: ISS); GO_0007605 (EC: ISS); GO_0008283 (EC: ISS); GO_0008284 (EC: ISS); GO_0009952 (EC: ISS); GO_0021644 (EC: ISS); GO_0030855 (EC: ISS); GO_0030878 (EC: ISS); GO_0035176 (EC: ISS); GO_0035909 (EC: ISS); GO_0042471 (EC: ISS); GO_0042472 (EC: ISS); GO_0042473 (EC: ISS); GO_0042474 (EC: ISS); GO_0042475 (EC: ISS); GO_0042693 (EC: ISS); GO_0042803 (EC: IDA, PMID: 11111039); GO_0043410 (EC: ISS); GO_0043565 (EC: IDA, PMID: 11111039); GO_0043587 (EC: ISS); GO_0044344 (EC: ISS); GO_0045596 (EC: ISS); GO_0045893 (EC: IDA, PMID: 17273972); GO_0045893 (EC: ISS); GO_0045944 (EC: ISS); GO_0046983 (EC: TAS, PMID: 17273972); GO_0048384 (EC: ISS); GO_0048514 (EC: ISS); GO_0048538 (EC: IMP, PMID: 14585638); GO_0048644 (EC: ISS); GO_0048701 (EC: ISS); GO_0048703 (EC: IMP, PMID: 14585638); GO_0048752 (EC: ISS); GO_0048844 (EC: ISS); GO_0050679 (EC: ISS); GO_0060017 (EC: IMP, PMID: 14585638); GO_0060023 (EC: IMP, PMID: 14585638); GO_0060037 (EC: IMP, PMID: 14585638); GO_0060325 (EC: ISS); GO_0060415 (EC: ISS); GO_0060982 (EC: ISS); GO_0070166 (EC: ISS); GO_0071300 (EC: ISS); GO_0071600 (EC: IEA); GO_0072513 (EC: IEA); GO_0090103 (EC: ISS); GO_0097152 (EC: ISS); GO_2000027 (EC: ISS); GO_2001037 (EC: ISS); GO_2001054 (EC: ISS) PMID: 1360769; 9268629; 11111039; 11585671; 11748311; 12533514; 12858556; 14585638; 15337468; 15703190; 16586352; 16684884; 16854283; 17273972; 17377518; 17438107; 17479646; 17622328; 17850965; 19050236; 19336370; 19407855; 19467348; 19645056; 19948535; 20071775; 20301696; 20497193; 20634891; 20811636; 20937753; 21041608; 21796729; 22164283; 22185286; 22801995; 22842189; 22893440; 22931165; 23000736; 23034814; 23725790 T-box 1 Ensembl:ENSG00000184058 HGNC:11592 HPRD:09069 MIM:602054 Vega:OTTHUMG00000150421 Other designations: T-box 1 transcription factor C|T-box transcription factor TBX1|Testis-specific T-box protein|brachyury TBX1 Bin Zhao, Yue Liu, Oliver He ARP1 COUPTFB COUPTFII NF-E3 NR2F1 SVP40 TFCOUP2 WEB: http://www.ncbi.nlm.nih.gov/gene NR2F2 nuclear receptor subfamily 2, group F, member 2 7026 15q26 20140408 9606 15 protein-coding Official from a nomenclature committee GO_0000122 (EC: IDA, PMID: 9343308); GO_0001764 (EC: IEA); GO_0001893 (EC: IEA); GO_0001937 (EC: IMP, PMID: 19210544); GO_0001972 (EC: IDA, PMID: 18798693); GO_0003700 (EC: IC, PMID: 19210544); GO_0003700 (EC: IDA, PMID: 9343308); GO_0003707 (EC: IEA); GO_0003714 (EC: TAS, PMID: 1899293); GO_0004879 (EC: IDA, PMID: 18798693); GO_0005515 (EC: IPI, PMID: 18798693); GO_0005634 (EC: IDA, PMID: 19210544); GO_0006357 (EC: TAS, PMID: 1899293); GO_0006629 (EC: TAS, PMID: 1899293); GO_0007165 (EC: TAS, PMID: 1899293); GO_0007519 (EC: IEA); GO_0008270 (EC: IEA); GO_0009566 (EC: IEA); GO_0009952 (EC: IEA); GO_0009956 (EC: IEA); GO_0010596 (EC: IMP, PMID: 19210544); GO_0030522 (EC: IDA, PMID: 18798693); GO_0030522 (EC: TAS, PMID: 1899293); GO_0030900 (EC: IEA); GO_0032355 (EC: IEA); GO_0042803 (EC: IPI, PMID: 18798693); GO_0043565 (EC: IDA, PMID: 9343308); GO_0045736 (EC: IDA, PMID: 19210544); GO_0045892 (EC: IDA, PMID: 19210544); GO_0045893 (EC: IDA, PMID: 18798693); GO_0045893 (EC: IMP, PMID: 18815287); GO_0048514 (EC: IEA); GO_0060173 (EC: IEA); GO_0060674 (EC: IEA); GO_0060707 (EC: IEA); GO_0060849 (EC: IMP, PMID: 18815287) PMID: 1312668; 1820218; 1899293; 8530078; 8910285; 9115274; 9343308; 9826778; 10318855; 10704340; 10744719; 11544252; 12477932; 12614160; 12843196; 14739255; 15140878; 15231748; 15265774; 15489334; 15604093; 15611122; 15666827; 16219912; 17455195; 17554300; 18199540; 18765665; 18798693; 18815287; 19082449; 19154418; 19210544; 19505873; 19913121; 20147377; 20195529; 20211142; 20351309; 20386594; 20549515; 20585627; 20628086; 21151097; 21549307; 21890473; 21906983; 21988832; 22178710; 22219177; 22242598; 22493443; 22569225; 22606236; 22693611; 22734039; 22829776; 23136034; 23201680; 23345397; 23458092; 23690307; 23704310; 23744056; 23975195 nuclear receptor subfamily 2, group F, member 2 Ensembl:ENSG00000185551 HGNC:7976 HPRD:00139 MIM:107773 Vega:OTTHUMG00000149848 Other designations: ADP-ribosylation factor related protein 1|COUP transcription factor 2|COUP transcription factor II|apolipoprotein A-I regulatory protein 1|apolipoprotein AI regulatory protein 1|chicken ovalbumin upstream promoter transcription factor 2|chicken ovalbumin upstream promoter-transcription factor I NR2F2 Bin Zhao, Yue Liu, Oliver He ITF P1B TFI WEB: http://www.ncbi.nlm.nih.gov/gene TFF3 trefoil factor 3 (intestinal) 7033 21q22.3 20140408 9606 21 protein-coding Official from a nomenclature committee GO_0003674 (EC: ND); GO_0005576 (EC: TAS, PMID: 8454642); GO_0006952 (EC: TAS, PMID: 8454642); GO_0007586 (EC: TAS, PMID: 8454642); GO_0030141 (EC: IEA); GO_0032579 (EC: IEA); GO_0043434 (EC: IEA) PMID: 7669039; 7718582; 8346203; 8454642; 8641134; 8833157; 8940297; 9043862; 9070946; 9855711; 10051448; 10830953; 10950923; 11193208; 11235998; 11837892; 12006524; 12395334; 12477932; 12613926; 12663147; 14637006; 14690424; 14968359; 15083192; 15340161; 15489334; 15515157; 15578191; 15645121; 15665295; 15733066; 16110118; 16142311; 16142316; 16166422; 16278592; 16410243; 16830362; 17008636; 17018241; 17216196; 17217669; 17762162; 18258687; 18326859; 18353006; 18502057; 18506086; 18676680; 18682706; 18979216; 19170196; 19172695; 19238529; 19528408; 19625176; 19692168; 19758246; 20063012; 20112343; 20132413; 20229017; 20237496; 20499178; 21125297; 21170267; 21170268; 21472131; 21520112; 21743959; 21769478; 21829008; 22246423; 22286382; 22341453; 22354994; 22389405; 22476621; 22516806; 22572548; 22907485; 23198942; 23329884; 23570281; 23578537; 23691218; 23822993; 23845905; 23856515; 23933418; 24045095; 24051092 trefoil factor 3 (intestinal) Ensembl:ENSG00000160180 HGNC:11757 HPRD:02797 MIM:600633 Vega:OTTHUMG00000086798 Other designations: polypeptide P1.B|trefoil factor 3 TFF3 Bin Zhao, Yue Liu, Oliver He CED DPD1 LAP TGFB TGFbeta WEB: http://www.ncbi.nlm.nih.gov/gene TGFB1 transforming growth factor, beta 1 7040 19q13.1 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0000060 (EC: IDA); GO_0000122 (EC: IEA); GO_0000165 (EC: IMP); GO_0001657 (EC: IEA); GO_0001666 (EC: IEA); GO_0001837 (EC: IEA); GO_0001933 (EC: IDA, PMID: 8053900); GO_0001934 (EC: IDA, PMID: 18625725); GO_0002028 (EC: IEA); GO_0002062 (EC: IDA, PMID: 15040835); GO_0002244 (EC: IDA, PMID: 15451575); GO_0002248 (EC: TAS, PMID: 9639571); GO_0002460 (EC: IEA); GO_0002513 (EC: IEA); GO_0002576 (EC: TAS); GO_0003823 (EC: IPI, PMID: 16754747); GO_0005114 (EC: IDA, PMID: 11157754); GO_0005114 (EC: IPI, PMID: 1333888); GO_0005515 (EC: IPI, PMID: 10092230); GO_0005576 (EC: TAS); GO_0005578 (EC: ISS); GO_0005615 (EC: IDA, PMID: 19734317); GO_0005634 (EC: IDA, PMID: 18040277); GO_0005737 (EC: IDA, PMID: 18040277); GO_0005796 (EC: TAS); GO_0005886 (EC: TAS); GO_0005902 (EC: IDA, Qualifier: colocalizes_with, PMID: 19366691); GO_0006468 (EC: ISS); GO_0006611 (EC: IDA, PMID: 17438144); GO_0006754 (EC: IDA, PMID: 10513816); GO_0006796 (EC: IDA, PMID: 10513816); GO_0006874 (EC: IEA); GO_0006954 (EC: IDA); GO_0007050 (EC: IDA, PMID: 14555988); GO_0007093 (EC: IDA, PMID: 15334054); GO_0007173 (EC: IDA, PMID: 18625725); GO_0007179 (EC: IDA, PMID: 11157754); GO_0007179 (EC: TAS); GO_0007182 (EC: IDA); GO_0007183 (EC: IDA, PMID: 17438144); GO_0007184 (EC: IDA, PMID: 15334054); GO_0007406 (EC: IEA); GO_0007435 (EC: IEP, PMID: 18080134); GO_0007492 (EC: IEA); GO_0007565 (EC: IEA); GO_0007568 (EC: IEA); GO_0007596 (EC: TAS); GO_0008083 (EC: IEA); GO_0008156 (EC: IMP, PMID: 11158066); GO_0008284 (EC: IDA, PMID: 10513816); GO_0008285 (EC: IDA, PMID: 15334054); GO_0008354 (EC: IEA); GO_0009314 (EC: IEA); GO_0009611 (EC: IEP, PMID: 18040277); GO_0009749 (EC: IEA); GO_0009790 (EC: IEA); GO_0009817 (EC: IEA); GO_0009986 (EC: IMP, PMID: 19366691); GO_0010575 (EC: TAS, PMID: 19506300); GO_0010628 (EC: IDA, PMID: 18625725); GO_0010718 (EC: IDA, PMID: 17999987); GO_0010718 (EC: NAS); GO_0010742 (EC: IC, PMID: 15219857); GO_0010763 (EC: IDA, PMID: 18555217); GO_0010800 (EC: IDA, PMID: 18625725); GO_0010862 (EC: IDA, PMID: 19736306); GO_0010936 (EC: IDA); GO_0016049 (EC: IEA); GO_0016202 (EC: ISS); GO_0017015 (EC: IDA, PMID: 15334054); GO_0019048 (EC: TAS); GO_0019049 (EC: IDA, PMID: 15334054); GO_0019058 (EC: TAS); GO_0019899 (EC: IPI, PMID: 19366691); GO_0022408 (EC: IDA, PMID: 18593713); GO_0030168 (EC: TAS); GO_0030198 (EC: TAS); GO_0030214 (EC: IDA, PMID: 17324121); GO_0030279 (EC: IEA); GO_0030308 (EC: IDA, PMID: 15334054); GO_0030334 (EC: TAS, PMID: 19018011); GO_0030335 (EC: IDA, PMID: 19736306); GO_0030424 (EC: IEA); GO_0030501 (EC: IEP, PMID: 17401695); GO_0030512 (EC: TAS); GO_0031065 (EC: IEA); GO_0031093 (EC: TAS); GO_0031100 (EC: IEA); GO_0031334 (EC: IDA, PMID: 19366691); GO_0031536 (EC: IEA); GO_0031663 (EC: IDA); GO_0032270 (EC: IDA, PMID: 15219857); GO_0032355 (EC: IDA, PMID: 18039789); GO_0032570 (EC: IDA, PMID: 18039789); GO_0032740 (EC: IDA, PMID: 18453574); GO_0032801 (EC: IDA, PMID: 17878231); GO_0032930 (EC: IDA); GO_0032943 (EC: IEA); GO_0032967 (EC: IDA, PMID: 19734317); GO_0032967 (EC: IMP, PMID: 11158066); GO_0033138 (EC: IDA, PMID: 18625725); GO_0033280 (EC: IEA); GO_0034616 (EC: IEA); GO_0035066 (EC: IEA); GO_0035307 (EC: IDA, PMID: 14555988); GO_0042130 (EC: IEA); GO_0042306 (EC: ISS); GO_0042307 (EC: IDA, PMID: 19366691); GO_0042482 (EC: IEA); GO_0042493 (EC: IEA); GO_0042552 (EC: IEA); GO_0042803 (EC: IEA); GO_0043011 (EC: IEA); GO_0043025 (EC: IEA); GO_0043029 (EC: IEA); GO_0043065 (EC: IEA); GO_0043406 (EC: IDA, PMID: 18625725); GO_0043491 (EC: IMP); GO_0043536 (EC: IDA, PMID: 18555217); GO_0043537 (EC: IDA, PMID: 18555217); GO_0043552 (EC: IDA, PMID: 18625725); GO_0043932 (EC: IEP, PMID: 17401695); GO_0045066 (EC: IEA); GO_0045216 (EC: IDA, PMID: 18505915); GO_0045599 (EC: IDA, PMID: 15040835); GO_0045662 (EC: IDA, PMID: 9770491); GO_0045786 (EC: IDA, PMID: 11502704); GO_0045892 (EC: IDA, PMID: 15702480); GO_0045893 (EC: IDA, PMID: 14517293); GO_0045893 (EC: ISS); GO_0045930 (EC: IDA, PMID: 14555988); GO_0045944 (EC: IDA, PMID: 18832382); GO_0046732 (EC: TAS); GO_0046982 (EC: IEA); GO_0047485 (EC: IEA); GO_0048298 (EC: IDA, PMID: 14988498); GO_0048535 (EC: ISS); GO_0048565 (EC: IEA); GO_0048642 (EC: IDA, PMID: 9770491); GO_0048839 (EC: IEA); GO_0050679 (EC: IEA); GO_0050680 (EC: IDA, PMID: 9950587); GO_0050680 (EC: IMP, PMID: 16943770); GO_0050714 (EC: IDA, PMID: 18505915); GO_0050765 (EC: IEA); GO_0050777 (EC: IEA); GO_0050921 (EC: IDA, PMID: 18555217); GO_0051092 (EC: IEA); GO_0051098 (EC: ISS); GO_0051101 (EC: ISS); GO_0051152 (EC: IEA); GO_0051280 (EC: IEA); GO_0051781 (EC: IEA); GO_0051897 (EC: IDA, PMID: 18625725); GO_0060325 (EC: IEA); GO_0060364 (EC: IEA); GO_0060389 (EC: IDA, PMID: 11157754); GO_0060391 (EC: IDA, PMID: 19366691); GO_0060744 (EC: IEA); GO_0060751 (EC: IEA); GO_0060762 (EC: IEA); GO_0061035 (EC: IEA); GO_0070306 (EC: IEA); GO_0070723 (EC: IDA, PMID: 17878231); GO_0071158 (EC: IEA); GO_0071407 (EC: IDA); GO_0071549 (EC: IEA); GO_0072562 (EC: IDA); GO_0085029 (EC: IDA, PMID: 19734317); GO_0090190 (EC: IEA); GO_0097191 (EC: IDA, PMID: 15334054); GO_1900126 (EC: IDA, PMID: 17324121); GO_1901666 (EC: IDA); GO_2000679 (EC: IDA) PMID: 1281686; 1326540; 1333888; 1550960; 2119582; 2909528; 2982829; 3162913; 3457014; 3459257; 3470709; 3487831; 3861940; 7495302; 7513640; 7638106; 7686157; 7695626; 7798269; 7803268; 7852346; 7935686; 8053900; 8093006; 8106553; 8235612; 8242742; 8264131; 8294518; 8336945; 8370410; 8424942; 8424943; 8471846; 8551249; 8568261; 8599089; 8617200; 8679613; 8811049; 9150447; 9383706; 9389648; 9434787; 9521216; 9639571; 9660815; 9670843; 9675033; 9770491; 9783545; 9813058; 9865696; 9895299; 9918798; 9934696; 9950587; 9987082; 10025398; 10085302; 10092230; 10376933; 10383378; 10431160; 10457363; 10513816; 10631145; 10652271; 10716993; 10746731; 10843814; 10887155; 10930463; 10973241; 11008076; 11062463; 11100470; 11157754; 11158066; 11172812; 11176807; 11192323; 11233912; 11266927; 11266928; 11267084; 11267423; 11278302; 11316069; 11345594; 11357939; 11374867; 11389394; 11391236; 11391238; 11401606; 11404167; 11436536; 11453244; 11456401; 11483955; 11496247; 11502704; 11528523; 11557193; 11568166; 11576951; 11604083; 11694328; 11715070; 11740340; 11746498; 11750277; 11769974; 11771728; 11776328; 11784716; 11796824; 11800227; 11803605; 11810274; 11824477; 11826761; 11830340; 11836565; 11839086; 11867550; 11876742; 11876761; 11906036; 11906646; 11908736; 11911944; 11912197; 11924651; 11925630; 11928807; 11934870; 11960000; 11966931; 11970960; 11981433; 11991670; 11991675; 11992481; 11998866; 12000722; 12009575; 12015308; 12020803; 12021923; 12032592; 12036913; 12041672; 12046078; 12050565; 12055267; 12057905; 12060054; 12061838; 12062452; 12068984; 12081893; 12081894; 12082048; 12085100; 12089714; 12095061; 12097320; 12099698; 12101112; 12107734; 12117671; 12133353; 12140283; 12150293; 12151385; 12160532; 12161098; 12161428; 12163012; 12163055; 12164325; 12168782; 12170265; 12171249; 12172787; 12174377; 12175481; 12176809; 12182464; 12186868; 12189134; 12202226; 12202478; 12202987; 12207584; 12209716; 12219028; 12223346; 12232842; 12234017; 12352892; 12358597; 12358852; 12366695; 12370400; 12370804; 12374793; 12376363; 12379307; 12382579; 12393416; 12393612; 12397374; 12410804; 12411321; 12413771; 12420205; 12421823; 12431651; 12431652; 12432546; 12438348; 12441075; 12451269; 12453980; 12454225; 12457461; 12477932; 12478192; 12479636; 12485831; 12485877; 12489179; 12489185; 12491092; 12493411; 12493741; 12500218; 12507818; 12514788; 12515830; 12525765; 12529270; 12531695; 12531696; 12531888; 12540377; 12547711; 12548199; 12559970; 12560323; 12560674; 12569017; 12572925; 12579267; 12579348; 12589095; 12590978; 12591385; 12595498; 12595908; 12598898; 12601022; 12607775; 12615364; 12626500; 12630751; 12637138; 12649573; 12654639; 12667558; 12669309; 12675860; 12682078; 12700666; 12707335; 12723985; 12727482; 12743121; 12746254; 12747448; 12751024; 12753290; 12754205; 12758167; 12772773; 12775566; 12787424; 12794244; 12795790; 12802498; 12810668; 12815042; 12817760; 12821938; 12824005; 12838101; 12843182; 12850832; 12857600; 12858019; 12858451; 12859695; 12867422; 12874450; 12875973; 12879019; 12879228; 12893825; 12894997; 12898374; 12902338; 12909463; 12911534; 12911563; 12917425; 12938093; 12938195; 12943995; 12944979; 12953061; 12960355; 12974899; 13678774; 13679381; 14504277; 14504444; 14507446; 14510802; 14514699; 14514772; 14517293; 14525983; 14529885; 14531781; 14531804; 14532743; 14555988; 14557872; 14566095; 14576166; 14576954; 14583433; 14585325; 14595120; 14596813; 14597484; 14600158; 14604900; 14607332; 14607563; 14607699; 14608199; 14612292; 14612931; 14614718; 14625191; 14633126; 14633628; 14633705; 14634021; 14635011; 14636845; 14637150; 14641541; 14642613; 14643949; 14644155; 14648590; 14667198; 14672557; 14675189; 14675394; 14676209; 14679171; 14697238; 14697748; 14699019; 14704634; 14707053; 14712482; 14720431; 14722617; 14725686; 14726452; 14727154; 14732719; 14737114; 14751563; 14755254; 14756669; 14757763; 14760152; 14767644; 14871809; 14872501; 14969768; 14976204; 14978126; 14988407; 14988498; 14991065; 14993265; 14999526; 15000149; 15001984; 15003992; 15006917; 15009097; 15009106; 15009180; 15018667; 15020570; 15030461; 15033015; 15033492; 15034041; 15034927; 15040835; 15041164; 15041717; 15044465; 15044491; 15049387; 15057277; 15063762; 15066699; 15068691; 15084245; 15086490; 15100259; 15100460; 15102678; 15102771; 15104684; 15113633; 15114294; 15120189; 15132952; 15133024; 15133032; 15135368; 15159307; 15161830; 15166495; 15170816; 15170937; 15175276; 15178409; 15180953; 15184872; 15187087; 15187109; 15189946; 15191521; 15192047; 15192088; 15194285; 15200451; 15200452; 15203191; 15207246; 15212689; 15214940; 15215809; 15219857; 15220111; 15221033; 15225617; 15231647; 15240008; 15247230; 15247411; 15248227; 15257453; 15269821; 15271980; 15284289; 15288191; 15294900; 15297631; 15305380; 15308875; 15316224; 15334054; 15337504; 15342556; 15342643; 15351436; 15353478; 15354859; 15359164; 15361124; 15361128; 15361357; 15365652; 15367225; 15368517; 15372625; 15373772; 15377500; 15387373; 15450129; 15451575; 15458467; 15467747; 15479754; 15488704; 15489334; 15494412; 15498571; 15498766; 15522940; 15529502; 15536170; 15539010; 15546338; 15552843; 15569360; 15574511; 15592292; 15593052; 15593053; 15596839; 15598443; 15599305; 15599395; 15599946; 15603866; 15604209; 15606694; 15609398; 15613484; 15621151; 15622443; 15623538; 15623763; 15632190; 15637079; 15641096; 15650893; 15654963; 15661045; 15663966; 15665522; 15671065; 15690532; 15694998; 15698546; 15702480; 15703175; 15705190; 15708894; 15712349; 15716278; 15718915; 15721312; 15723707; 15730046; 15732863; 15735739; 15738684; 15750822; 15753900; 15754021; 15761148; 15763337; 15767424; 15769917; 15770661; 15773449; 15777850; 15778389; 15778431; 15784411; 15787639; 15788474; 15790343; 15794197; 15799969; 15800982; 15802940; 15803361; 15811853; 15818397; 15824172; 15833881; 15834029; 15837559; 15838283; 15838328; 15841043; 15842590; 15843517; 15845540; 15848524; 15848527; 15854667; 15856020; 15857508; 15860935; 15878096; 15879087; 15880049; 15881652; 15895394; 15896309; 15901906; 15905358; 15910294; 15913806; 15913903; 15916738; 15917409; 15917723; 15925543; 15927846; 15932621; 15935652; 15935832; 15938776; 15941661; 15941974; 15942255; 15943594; 15944607; 15945506; 15946939; 15951295; 15951665; 15955247; 15957132; 15982639; 16003239; 16014625; 16023325; 16029542; 16030091; 16044414; 16046050; 16046504; 16055706; 16082716; 16086840; 16095497; 16098131; 16100012; 16100774; 16111879; 16113310; 16133992; 16135802; 16135988; 16144297; 16144346; 16146757; 16148664; 16158060; 16162149; 16179583; 16179614; 16179804; 16179826; 16183136; 16184401; 16187293; 16187311; 16193177; 16207846; 16209640; 16210002; 16219695; 16222707; 16223572; 16223775; 16236363; 16243534; 16245329; 16251192; 16253118; 16253647; 16258727; 16258965; 16259606; 16260615; 16263699; 16270194; 16272332; 16277007; 16285938; 16287542; 16289860; 16292494; 16297654; 16298544; 16301119; 16307809; 16310402; 16323703; 16324212; 16327802; 16330131; 16335952; 16336267; 16343799; 16344560; 16350816; 16367920; 16369764; 16378061; 16378062; 16378074; 16387180; 16387590; 16400883; 16403803; 16407286; 16412560; 16413503; 16414983; 16423881; 16423922; 16424284; 16425360; 16428771; 16433832; 16456143; 16461080; 16463783; 16467160; 16482098; 16484622; 16488890; 16493441; 16495290; 16496359; 16499994; 16504679; 16521228; 16524740; 16540751; 16541418; 16543220; 16543493; 16549165; 16552334; 16554035; 16563223; 16563228; 16564125; 16567828; 16570020; 16571622; 16609882; 16617095; 16619041; 16619184; 16620985; 16621788; 16622033; 16622736; 16635219; 16635548; 16637060; 16638864; 16641085; 16646981; 16671880; 16675485; 16675963; 16677601; 16685022; 16690986; 16698802; 16702209; 16704031; 16704689; 16712948; 16718633; 16720864; 16722148; 16730575; 16730947; 16732186; 16733295; 16734133; 16754688; 16754747; 16778279; 16780585; 16785237; 16792132; 16798416; 16799085; 16803995; 16804000; 16807529; 16815840; 16816361; 16820791; 16820871; 16824159; 16824504; 16828225; 16828470; 16835828; 16837650; 16843825; 16849317; 16872485; 16873204; 16875935; 16877343; 16896935; 16904244; 16916603; 16916659; 16920945; 16921482; 16931622; 16933058; 16934609; 16938461; 16941960; 16943770; 16951150; 16962335; 16962935; 16966185; 16969385; 16971953; 16980081; 16987065; 16987066; 16989156; 16990280; 16990569; 16998703; 17003485; 17014924; 17017182; 17018615; 17018616; 17018785; 17021946; 17023672; 17023741; 17032917; 17035001; 17035229; 17044077; 17047091; 17052957; 17059371; 17067743; 17071067; 17072955; 17074098; 17074765; 17076676; 17080483; 17088559; 17097497; 17100549; 17114344; 17137775; 17138053; 17139467; 17145161; 17145371; 17146441; 17151785; 17157157; 17157217; 17164348; 17173255; 17184296; 17187359; 17192829; 17194537; 17198270; 17198275; 17203972; 17205957; 17209781; 17213232; 17214746; 17217620; 17217840; 17220333; 17230494; 17234915; 17237561; 17242066; 17257312; 17261758; 17261759; 17264880; 17268554; 17277740; 17285762; 17288590; 17290010; 17292826; 17293864; 17303584; 17305717; 17312920; 17314099; 17319955; 17324121; 17325209; 17327236; 17332318; 17333284; 17338374; 17341608; 17341610; 17341683; 17346099; 17347580; 17348207; 17359969; 17360530; 17360654; 17361195; 17365852; 17367219; 17368597; 17369174; 17369289; 17371954; 17373677; 17374177; 17376051; 17376924; 17381064; 17382930; 17392271; 17394006; 17400536; 17401617; 17401695; 17404043; 17405902; 17409139; 17415413; 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22068323; 22072025; 22072289; 22074128; 22079734; 22079987; 22095517; 22103462; 22113713; 22116522; 22118314; 22126761; 22127241; 22133666; 22135187; 22138668; 22140658; 22161860; 22169532; 22206775; 22209986; 22211842; 22213299; 22214163; 22215279; 22217516; 22240154; 22262853; 22264233; 22268139; 22268729; 22269108; 22269311; 22275377; 22278155; 22278742; 22279205; 22282866; 22284668; 22284809; 22287592; 22290469; 22290546; 22292774; 22293501; 22306319; 22310280; 22334695; 22349829; 22350281; 22353043; 22355187; 22357622; 22366990; 22371403; 22374302; 22377751; 22378783; 22379029; 22385796; 22389764; 22391565; 22393057; 22393371; 22395513; 22396040; 22406175; 22412222; 22412921; 22414880; 22415826; 22421944; 22425021; 22429842; 22429882; 22430847; 22433249; 22434388; 22435331; 22447164; 22451656; 22453918; 22458981; 22461896; 22464821; 22465044; 22465760; 22466340; 22479366; 22490392; 22491319; 22496449; 22503347; 22508498; 22512703; 22513132; 22516997; 22528667; 22532183; 22537351; 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22936401; 22940691; 22941282; 22942286; 22946048; 22949934; 22958403; 22960426; 22965824; 22966790; 22970254; 22971480; 22974591; 22975373; 22977658; 22984076; 22988034; 22990108; 22996328; 23001908; 23018556; 23020627; 23022171; 23023332; 23031257; 23041062; 23049541; 23050851; 23051628; 23056251; 23056332; 23059779; 23060149; 23063511; 23064636; 23078766; 23084539; 23088218; 23104471; 23108401; 23118848; 23119075; 23126427; 23127773; 23129177; 23154409; 23167402; 23175152; 23176363; 23179798; 23183523; 23185371; 23192429; 23199655; 23201680; 23204521; 23207623; 23208491; 23209731; 23220173; 23222298; 23223528; 23226264; 23232296; 23239467; 23242839; 23243310; 23245944; 23249950; 23258796; 23260996; 23275154; 23277357; 23280075; 23284751; 23285029; 23291965; 23295196; 23298711; 23306609; 23319603; 23322881; 23325483; 23333936; 23334061; 23344525; 23352789; 23352795; 23357697; 23358854; 23359369; 23361571; 23362262; 23363776; 23378223; 23382382; 23390194; 23393376; 23399816; 23403314; 23416372; 23416968; 23419524; 23420368; 23421960; 23424236; 23426367; 23428182; 23434344; 23435990; 23437118; 23437179; 23447672; 23459932; 23463512; 23464518; 23466425; 23467611; 23468994; 23479725; 23481710; 23483604; 23486522; 23500081; 23503840; 23515048; 23536722; 23546898; 23548068; 23548835; 23554457; 23555036; 23567513; 23576639; 23581259; 23583521; 23589287; 23614931; 23618868; 23619257; 23623844; 23631855; 23638863; 23640911; 23645040; 23651239; 23653379; 23657067; 23657402; 23668958; 23684116; 23685151; 23690936; 23704908; 23705641; 23717436; 23727026; 23731614; 23741351; 23747893; 23748363; 23762097; 23762330; 23764028; 23770288; 23770290; 23779087; 23781096; 23783250; 23792459; 23792503; 23792529; 23793025; 23801826; 23804438; 23824844; 23824952; 23828577; 23830915; 23831640; 23839959; 23861796; 23872147; 23873179; 23884197; 23892434; 23904169; 23904263; 23911408; 23921128; 23923066; 23926107; 23936495; 23937428; 23940283; 23946447; 23951322; 23958565; 23965869; 23975370; 23990681; 23996684; 24005672; 24014274; 24015303; 24026183; 24049142; 24056369; 24067469; 24080022; 24106276; 24123012; 24129188; 24129565; 24133214; 24145170; 24162774; 24170657; 24183998; 24195511; 24240172; 24305876; 24316888; 24324267; 24511106; 24597264; 24597398 transforming growth factor, beta 1 HGNC:11766 HPRD:01821 MIM:190180 Other designations: TGF-beta-1|latency-associated peptide|prepro-transforming growth factor beta-1|transforming growth factor beta-1 TGFB1 Bin Zhao, Yue Liu, Oliver He ARVD ARVD1 RNHF TGF-beta3 WEB: http://www.ncbi.nlm.nih.gov/gene TGFB3 transforming growth factor, beta 3 7043 14q24 20140408 9606 14 protein-coding Official from a nomenclature committee GO_0000187 (EC: IEA); GO_0001666 (EC: IDA, PMID: 18156205); GO_0001701 (EC: ISS); GO_0002576 (EC: TAS); GO_0005114 (EC: IDA, PMID: 11157754); GO_0005114 (EC: IPI, PMID: 1333888); GO_0005515 (EC: IPI, PMID: 10930463); GO_0005515 (EC: IPI, Qualifier: contributes_to, PMID: 9872992); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0005634 (EC: IEA); GO_0005886 (EC: IC, PMID: 11157754); GO_0007179 (EC: IDA, PMID: 11157754); GO_0007184 (EC: IEA); GO_0007435 (EC: IEP, PMID: 18080134); GO_0007565 (EC: IEA); GO_0007568 (EC: IEA); GO_0007596 (EC: TAS); GO_0008083 (EC: IEA); GO_0008156 (EC: IMP, PMID: 11158066); GO_0008285 (EC: ISS); GO_0009986 (EC: IEA); GO_0010718 (EC: IDA, PMID: 18505915); GO_0010718 (EC: ISS); GO_0010862 (EC: ISS); GO_0010936 (EC: IDA); GO_0016049 (EC: IEA); GO_0022601 (EC: IEP, PMID: 18039789); GO_0030168 (EC: TAS); GO_0030198 (EC: TAS); GO_0030315 (EC: IEA); GO_0030501 (EC: IEP, PMID: 17401695); GO_0030512 (EC: IEA); GO_0030879 (EC: ISS); GO_0031012 (EC: IDA, PMID: 18049952); GO_0031093 (EC: TAS); GO_0032570 (EC: IDA, PMID: 18039789); GO_0032967 (EC: IMP, PMID: 11158066); GO_0034616 (EC: IEA); GO_0034713 (EC: IDA, PMID: 18243111); GO_0042476 (EC: NAS, PMID: 18078367); GO_0042802 (EC: IDA, PMID: 18243111); GO_0043025 (EC: IEA); GO_0043065 (EC: ISS); GO_0043524 (EC: ISS); GO_0043627 (EC: IEA); GO_0043932 (EC: IEP, PMID: 17401695); GO_0045216 (EC: IDA, PMID: 18505915); GO_0045740 (EC: IMP, PMID: 11158066); GO_0045893 (EC: IDA, PMID: 18156205); GO_0045893 (EC: ISS); GO_0045944 (EC: ISS); GO_0046982 (EC: IEA); GO_0048286 (EC: ISS); GO_0048565 (EC: IEA); GO_0048702 (EC: IEA); GO_0048839 (EC: IEA); GO_0050431 (EC: IDA, PMID: 18243111); GO_0050714 (EC: IDA, PMID: 18505915); GO_0051491 (EC: ISS); GO_0051781 (EC: IEA); GO_0060021 (EC: ISS); GO_0060325 (EC: IMP, PMID: 12651933); GO_0060364 (EC: IEA); GO_0060391 (EC: ISS); GO_0070483 (EC: IDA, PMID: 18156205) PMID: 1326540; 1333888; 1875922; 3164476; 3208746; 3226728; 3457014; 7493022; 7796607; 7852346; 7951245; 7962292; 8093006; 8106553; 8819159; 8886879; 9140123; 9250163; 9683588; 9872992; 10187774; 10457363; 10930463; 11157754; 11158066; 11166150; 11199370; 11341298; 11374028; 11382746; 11384957; 11488419; 11754469; 11776328; 11821050; 11850637; 11969342; 12021923; 12060054; 12062452; 12168782; 12171249; 12221089; 12358597; 12410804; 12432546; 12477932; 12489185; 12508121; 12607775; 12651933; 12652527; 12729750; 12733956; 12772773; 12911534; 14659070; 14679171; 14702039; 15017149; 15155569; 15247411; 15639475; 15896309; 15924806; 16043141; 16210002; 16247549; 16549496; 16778279; 16781676; 16930538; 17225872; 17272867; 17401695; 17671384; 17673689; 17827158; 18039789; 18049952; 18078367; 18080134; 18156205; 18174230; 18243111; 18293167; 18480962; 18498721; 18505915; 18698632; 18799618; 18950289; 18976975; 19062040; 19107876; 19161338; 19212830; 19231643; 19322201; 19328471; 19336475; 19396528; 19432813; 19453261; 19628198; 19651533; 19656717; 19700613; 19787410; 19897194; 19937272; 20082468; 20083094; 20142847; 20170386; 20237132; 20237496; 20301310; 20407224; 20408761; 20485444; 20497023; 20572854; 20587546; 20613589; 20628624; 20634891; 20672350; 20734064; 20736064; 20945347; 21041550; 21084396; 21177256; 21305699; 21352603; 21411746; 21423151; 21611961; 21666950; 21988832; 22143699; 22191848; 22266274; 22369552; 22409215; 22464821; 22674391; 22706080; 22795539; 22796605; 22880017; 23023602; 23122986; 23824657; 23968981; 24056369; 24306208 transforming growth factor, beta 3 HGNC:11769 HPRD:01829 MIM:190230 Other designations: TGF-beta-3|prepro-transforming growth factor beta-3|transforming growth factor beta-3 TGFB3 Bin Zhao, Yue Liu, Oliver He BIGH3 CDB1 CDG2 CDGG1 CSD CSD1 CSD2 CSD3 EBMD LCD1 WEB: http://www.ncbi.nlm.nih.gov/gene TGFBI transforming growth factor, beta-induced, 68kDa 7045 5q31 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0001525 (EC: IEP, PMID: 11866539); GO_0002062 (EC: IEA); GO_0005178 (EC: TAS, PMID: 1388724); GO_0005576 (EC: TAS); GO_0005604 (EC: IEA); GO_0005615 (EC: IEA); GO_0005886 (EC: TAS); GO_0007155 (EC: IEA); GO_0007162 (EC: TAS, PMID: 8024701); GO_0007601 (EC: IEA); GO_0008283 (EC: TAS, PMID: 1388724); GO_0030198 (EC: IEA); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0031012 (EC: ISS, Qualifier: colocalizes_with); GO_0050840 (EC: IEA); GO_0050896 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19199708) PMID: 1388724; 7738366; 8024701; 8077289; 8125298; 8136834; 9054935; 9061001; 9463327; 9497262; 9727509; 9780098; 9799082; 10328397; 10425035; 10660331; 10681572; 10837380; 10865320; 10913330; 10967553; 11024425; 11297504; 11413411; 11501939; 11685063; 11741113; 11866539; 11867580; 11923233; 11927442; 12034705; 12270930; 12379307; 12386809; 12400061; 12454095; 12477932; 12499048; 12586172; 12673209; 12704192; 12719415; 12782158; 12911551; 12940514; 14597039; 14701952; 14702039; 14767644; 14767905; 15013897; 15059726; 15111592; 15177960; 15179309; 15223229; 15302666; 15372022; 15489334; 15531312; 15564760; 15623763; 15712349; 15780949; 15790870; 15805105; 15838722; 15885785; 16087849; 16329070; 16329146; 16344560; 16368891; 16434404; 16440005; 16453189; 16541014; 16636649; 16652336; 16670477; 16672769; 16767671; 16797290; 16900028; 16947382; 17013691; 17317389; 17327467; 17378698; 17653042; 17765440; 17846354; 17893671; 17909299; 17980739; 17982418; 17982422; 18068629; 18078741; 18097563; 18245446; 18249103; 18259096; 18290950; 18298822; 18332318; 18354229; 18359287; 18425347; 18427622; 18465714; 18470323; 18560760; 18568131; 18615206; 18636123; 18728790; 18752451; 19001012; 19019446; 19145249; 19199708; 19255489; 19303004; 19433713; 19461933; 19505574; 19822856; 19913121; 19948560; 19956413; 20161820; 20360992; 20419098; 20421128; 20458218; 20628086; 20664689; 20680100; 20697279; 20724852; 20806046; 20863486; 20931522; 21135107; 21191728; 21371477; 21395558; 21554857; 21561707; 21617751; 21720722; 21835759; 21899585; 21921985; 22056868; 22155582; 22159598; 22194646; 22234156; 22248469; 22326753; 22374302; 22575305; 22575726; 22626996; 22629380; 22710795; 22746317; 22815629; 22850414; 22876129; 22995918; 23019342; 23559853; 23592924; 23735324; 23861389; 24129074 transforming growth factor, beta-induced, 68kDa Ensembl:ENSG00000120708 HGNC:11771 HPRD:03409 MIM:601692 Vega:OTTHUMG00000163213 Other designations: RGD-CAP|RGD-containing collagen-associated protein|beta ig-h3|kerato-epithelin|transforming growth factor-beta-induced protein ig-h3 TGFBI Bin Zhao, Yue Liu, Oliver He AHUS6 BDCA3 CD141 THPH12 THRM TM WEB: http://www.ncbi.nlm.nih.gov/gene THBD thrombomodulin 7056 20p11.2 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0004872 (EC: TAS, PMID: 2822087); GO_0004888 (EC: IEA); GO_0005509 (EC: IEA); GO_0005515 (EC: IPI, PMID: 14691232); GO_0005615 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 2822087); GO_0007565 (EC: IEA); GO_0007596 (EC: TAS); GO_0009790 (EC: IEA); GO_0009986 (EC: IDA, PMID: 17379830); GO_0010165 (EC: IEA); GO_0010544 (EC: TAS, PMID: 17379830); GO_0030195 (EC: TAS, PMID: 17379830); GO_0030246 (EC: IEA); GO_0032496 (EC: IEA); GO_0050900 (EC: TAS); GO_0051591 (EC: IEA); GO_0051918 (EC: TAS, PMID: 17379830) PMID: 1667949; 2538457; 2544585; 2819876; 2820710; 2822087; 2836377; 2839283; 3001144; 7559494; 7615164; 7811989; 7947766; 8216207; 8244401; 8390446; 8528067; 8661740; 8663147; 8745396; 9045633; 9157575; 9198186; 9252393; 9367781; 9395524; 9843165; 10066849; 10336638; 11106601; 11231927; 11245641; 11257274; 11552992; 11642722; 11734675; 11780052; 11846431; 11848462; 11858479; 11864703; 11864708; 11986219; 12031986; 12066950; 12068020; 12135317; 12139752; 12204814; 12210386; 12297717; 12407115; 12477932; 12576329; 12588872; 12709053; 12831611; 12862205; 12871544; 12871600; 12878585; 12918732; 12920633; 12951323; 14523329; 14556624; 14691232; 14702039; 14715348; 14769148; 14983241; 14987915; 15080580; 15099291; 15135268; 15178554; 15183044; 15488871; 15489334; 15574195; 15582990; 15613027; 15677570; 15705565; 15714116; 15837080; 15842356; 15897668; 15900300; 16043642; 16126727; 16136486; 16153429; 16307806; 16418283; 16456088; 16507317; 17003923; 17049585; 17067436; 17099142; 17099210; 17195062; 17275499; 17278618; 17287633; 17379830; 17677000; 17702963; 17848551; 17849052; 17875054; 17895503; 17982464; 18035074; 18204921; 18373234; 18484695; 18568955; 18579691; 18590927; 18940182; 18947863; 18974842; 18977990; 18991188; 19055859; 19074424; 19091791; 19133039; 19238444; 19278588; 19356953; 19420105; 19436051; 19477487; 19578796; 19609862; 19625716; 19638712; 19656282; 19682239; 19900089; 19913121; 19948975; 20036902; 20051099; 20116378; 20128871; 20237496; 20301541; 20309589; 20346360; 20379614; 20452482; 20453000; 20479115; 20479116; 20479117; 20505198; 20513133; 20538124; 20542541; 20581778; 20627281; 20628086; 20673868; 20713448; 21041299; 21150180; 21239103; 21370217; 21423464; 21466416; 21489980; 21556780; 21774968; 21805323; 21828042; 21833011; 21890178; 21896842; 21911804; 21988832; 22206250; 22232927; 22410019; 22426543; 22533488; 22573811; 22593542; 22682121; 22689672; 22750541; 22796578; 22880619; 22903729; 22918506; 22985614; 23140098; 23274063; 23383040; 23520161; 23741007; 23829893; 23844043; 23881386; 23918310; 23950139; 23954867; 24049150 thrombomodulin Ensembl:ENSG00000178726 HGNC:11784 HPRD:01764 MIM:188040 Vega:OTTHUMG00000032053 Other designations: CD141 antigen|fetomodulin THBD Bin Zhao, Yue Liu, Oliver He CLGI EPA EPO HCI TIMP WEB: http://www.ncbi.nlm.nih.gov/gene TIMP1 TIMP metallopeptidase inhibitor 1 7076 RP1-230G1.3 Xp11.3-p11.23 20140408 9606 X protein-coding Official from a nomenclature committee GO_0002020 (EC: IEA); GO_0002576 (EC: TAS); GO_0005515 (EC: IPI, PMID: 16917503); GO_0005576 (EC: NAS, PMID: 1653055); GO_0005576 (EC: TAS); GO_0005604 (EC: IEA); GO_0007568 (EC: IEA); GO_0007596 (EC: TAS); GO_0008191 (EC: IDA, PMID: 12714508); GO_0008284 (EC: TAS, PMID: 3839290); GO_0010951 (EC: IDA, PMID: 12714508); GO_0022617 (EC: TAS); GO_0030168 (EC: TAS); GO_0030198 (EC: TAS); GO_0031093 (EC: TAS); GO_0034097 (EC: IEA); GO_0043066 (EC: IEA); GO_0043249 (EC: IEA); GO_0043434 (EC: IEA); GO_0046872 (EC: IEA); GO_0051045 (EC: IDA, PMID: 12714508); GO_1901164 (EC: IMP) PMID: 1420137; 1653055; 1730286; 2163605; 2171551; 2251898; 2921031; 3010309; 3460333; 3688834; 3839290; 3903517; 7507419; 8757599; 9063449; 9286280; 9288970; 9778693; 10071915; 10233411; 10441576; 10623524; 11279011; 11598182; 11606052; 11705862; 11762702; 11796725; 11876751; 11935340; 11940298; 12032189; 12034345; 12063180; 12081564; 12082592; 12147251; 12150976; 12218659; 12376362; 12406369; 12452001; 12475252; 12477932; 12479097; 12496489; 12538453; 12612199; 12614934; 12620441; 12626459; 12634064; 12651627; 12704667; 12714508; 12717827; 12771930; 12791318; 12834347; 12846741; 12861139; 12869573; 12873541; 12904305; 12921631; 12951656; 12970724; 14517716; 14605322; 14622947; 14630798; 14648584; 14652000; 14661256; 14669348; 14688084; 14710472; 14734567; 14871825; 14962256; 14973177; 14983226; 15028476; 15051730; 15073104; 15161657; 15225209; 15248826; 15277439; 15287862; 15313474; 15340161; 15363817; 15363818; 15465038; 15479729; 15485866; 15489334; 15494493; 15515157; 15516987; 15530852; 15557756; 15616792; 15754326; 15754388; 15797648; 15818737; 15841325; 15867221; 15888067; 15890357; 15896974; 15944607; 16005367; 16019435; 16042227; 16061701; 16100012; 16103240; 16107690; 16169070; 16188099; 16191301; 16219294; 16248458; 16263699; 16269968; 16280123; 16288711; 16289162; 16303743; 16335952; 16372907; 16407831; 16410344; 16474379; 16496359; 16555295; 16615041; 16631927; 16740002; 16754484; 16767366; 16772717; 16786122; 16840178; 16864898; 16877361; 16880228; 16917503; 16931892; 16935611; 16940985; 16960901; 16996520; 17008230; 17009408; 17012236; 17045024; 17050530; 17071711; 17072372; 17114213; 17136882; 17162914; 17182940; 17192464; 17202148; 17205957; 17209789; 17222415; 17226791; 17299802; 17301822; 17340613; 17350093; 17380436; 17409012; 17456311; 17478562; 17489740; 17493602; 17543340; 17549663; 17564313; 17572998; 17589947; 17634538; 17660250; 17703334; 17726014; 17763191; 17786346; 17878270; 17893005; 17899257; 17920311; 17928006; 17998244; 18025061; 18034264; 18042068; 18049028; 18063811; 18159069; 18214300; 18217401; 18236174; 18273688; 18291374; 18292822; 18298349; 18385523; 18391843; 18395263; 18474748; 18477480; 18487063; 18502033; 18630499; 18634035; 18636124; 18645261; 18683786; 18692810; 18704317; 18787947; 18850474; 18854176; 18945772; 18984437; 19012952; 19019896; 19020757; 19036126; 19134356; 19141395; 19246282; 19288452; 19331801; 19336475; 19358835; 19383295; 19383343; 19383344; 19387352; 19390929; 19430729; 19464975; 19506087; 19513566; 19524176; 19551542; 19560452; 19596921; 19608737; 19609944; 19629003; 19637058; 19653096; 19717938; 19723139; 19723899; 19728856; 19747478; 19758569; 19766963; 19781774; 19796534; 19814619; 19863693; 19875168; 19887890; 19889076; 19904223; 19911067; 19913121; 19927649; 20021931; 20030715; 20039537; 20041335; 20051489; 20095885; 20111696; 20164040; 20193458; 20215736; 20298300; 20305574; 20361393; 20371206; 20388222; 20423842; 20450704; 20452482; 20459644; 20484597; 20514432; 20533294; 20545111; 20545310; 20556397; 20584750; 20587546; 20595097; 20616161; 20628086; 20628624; 20646231; 20654099; 20655547; 20673868; 20685094; 20707923; 20798956; 20838751; 20853162; 20854182; 20889295; 20921293; 21041986; 21086628; 21094936; 21115936; 21128246; 21139048; 21163810; 21165404; 21167221; 21211402; 21283828; 21427648; 21437624; 21437772; 21454617; 21463121; 21487066; 21506705; 21524282; 21535601; 21547130; 21586274; 21684102; 21709637; 21720458; 21731773; 21745383; 21763297; 21786179; 21858035; 21860087; 21881840; 21882477; 21903858; 21906983; 21928345; 21946941; 21963094; 21963718; 21969093; 21987572; 21993004; 21995626; 22016393; 22020222; 22051851; 22110238; 22122951; 22139647; 22177802; 22199358; 22200256; 22200690; 22200710; 22204652; 22223664; 22257687; 22268729; 22286923; 22289852; 22291969; 22305865; 22364921; 22397869; 22402936; 22427646; 22457727; 22465225; 22516898; 22532131; 22544540; 22547904; 22558080; 22645431; 22667130; 22671570; 22706255; 22712305; 22718114; 22739984; 22788708; 22820628; 22859303; 22883459; 22901654; 22906271; 22957045; 22965799; 22971139; 22975753; 22985578; 23000965; 23016931; 23043898; 23057632; 23060593; 23064462; 23107442; 23122949; 23158994; 23175213; 23179318; 23223421; 23318123; 23388475; 23407481; 23412981; 23457635; 23509357; 23522389; 23525523; 23548070; 23555182; 23557756; 23563628; 23583449; 23592002; 23650722; 23660069; 23673111; 23763354; 23768069; 23815085; 23817219; 23834019; 23881388; 23893334; 23967215; 23993112; 24039251; 24174628; 24330623; 24479343 TIMP metallopeptidase inhibitor 1 Ensembl:ENSG00000102265 HGNC:11820 HPRD:02371 MIM:305370 Vega:OTTHUMG00000021447 Other designations: TIMP-1|collagenase inhibitor|erythroid potentiating activity|erythroid-potentiating activity|fibroblast collagenase inhibitor|metalloproteinase inhibitor 1|tissue inhibitor of metalloproteinases 1 TIMP1 Bin Zhao, Yue Liu, Oliver He CSC-21K DDC8 WEB: http://www.ncbi.nlm.nih.gov/gene TIMP2 TIMP metallopeptidase inhibitor 2 7077 17q25 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0005178 (EC: IEA); GO_0005515 (EC: IPI); GO_0005576 (EC: TAS); GO_0005604 (EC: IEA); GO_0005615 (EC: IEA); GO_0007417 (EC: IEA); GO_0007568 (EC: IEA); GO_0008047 (EC: IEA); GO_0008191 (EC: IEA); GO_0008285 (EC: IEA); GO_0009986 (EC: IEA); GO_0010951 (EC: TAS, PMID: 8810321); GO_0022617 (EC: TAS); GO_0030198 (EC: TAS); GO_0030426 (EC: IEA); GO_0031514 (EC: IEA); GO_0032487 (EC: IEA); GO_0034097 (EC: IEA); GO_0042493 (EC: IEA); GO_0043025 (EC: IEA); GO_0043410 (EC: IEA); GO_0045666 (EC: IEA); GO_0045762 (EC: IEA); GO_0045861 (EC: IEA); GO_0045930 (EC: IEA); GO_0046580 (EC: IEA); GO_0046872 (EC: IEA); GO_0071310 (EC: IEA) PMID: 1427908; 1480041; 1730286; 1869284; 2157214; 2380196; 2554304; 2793861; 7918391; 8112602; 8757599; 8810321; 8985130; 9182583; 9422789; 9455735; 9705310; 9724659; 9736043; 9837731; 9933646; 10353844; 10764764; 10991943; 11004090; 11049985; 11420387; 11598182; 11606052; 11757622; 11912288; 12032297; 12034400; 12147251; 12372458; 12374789; 12406369; 12439941; 12446683; 12470034; 12475252; 12477932; 12479097; 12602913; 12614934; 12887919; 12900406; 12970394; 12970724; 14517716; 14598888; 14604886; 14605322; 14654538; 14661256; 14702039; 14710472; 14712492; 14744773; 14962256; 14973177; 14983226; 15052627; 15056834; 15147743; 15193960; 15225209; 15247230; 15248826; 15277439; 15308656; 15351863; 15489233; 15489334; 15557756; 15567754; 15616792; 15628723; 15672858; 15691234; 15691353; 15754326; 15760767; 15797648; 15841325; 15870703; 15944607; 16036783; 16042227; 16103240; 16142392; 16142692; 16237750; 16275157; 16326706; 16424893; 16425263; 16429190; 16491114; 16623785; 16631927; 16716258; 16723886; 16728425; 16772717; 16776850; 16940985; 17008230; 17030988; 17067460; 17071711; 17106248; 17130843; 17203468; 17207965; 17222415; 17226791; 17236757; 17325663; 17342343; 17350093; 17353931; 17374529; 17448043; 17493172; 17493602; 17495113; 17564313; 17572184; 17589947; 17613170; 17706812; 17786346; 17868665; 17886098; 17893005; 17901377; 17954022; 17979129; 17991754; 18025061; 18042068; 18177649; 18217401; 18260263; 18265895; 18288718; 18291374; 18301898; 18329693; 18424416; 18469019; 18472160; 18474097; 18477480; 18487063; 18498066; 18543216; 18634035; 18674955; 18702016; 19020757; 19088110; 19141395; 19187648; 19241124; 19267203; 19317417; 19331801; 19358835; 19383344; 19391484; 19431211; 19438747; 19464975; 19546837; 19551542; 19551841; 19596921; 19640333; 19698156; 19709349; 19723139; 19727008; 19758569; 19821096; 19844095; 19875168; 19883732; 19889076; 19913121; 19933216; 20041335; 20084057; 20138860; 20149706; 20195229; 20215736; 20216978; 20233321; 20452482; 20484597; 20485444; 20514432; 20587546; 20598922; 20616161; 20627004; 20628086; 20634891; 20672350; 20673868; 20685029; 20694560; 20707923; 20718757; 20730428; 20889295; 20940305; 20941509; 20948207; 21086628; 21148412; 21195432; 21228746; 21254651; 21261731; 21421877; 21427648; 21432777; 21437624; 21454617; 21462296; 21463121; 21478099; 21526499; 21620625; 21715326; 21732829; 21786179; 21839835; 21871510; 22020421; 22051851; 22110735; 22122951; 22169692; 22200256; 22200690; 22262409; 22270451; 22272343; 22302011; 22374248; 22427646; 22438955; 22511598; 22512703; 22532131; 22546345; 22551568; 22685266; 22730240; 22820140; 22880464; 22883459; 22985025; 22985578; 23038618; 23195431; 23205572; 23251661; 23264224; 23320481; 23369618; 23371049; 23388475; 23412981; 23415672; 23563628; 23650722; 23673111; 23708302; 23769926; 23791966; 23793312; 23817219; 23824909; 23855590; 24024966; 24210229; 24403492; 24440352; 24479343 TIMP metallopeptidase inhibitor 2 Ensembl:ENSG00000035862 HGNC:11821 HPRD:01784 MIM:188825 Vega:OTTHUMG00000154517 Other designations: TIMP-2|metalloproteinase inhibitor 2|tissue inhibitor of metalloproteinase 2|tissue inhibitor of metalloproteinases 2 TIMP2 Bin Zhao, Yue Liu, Oliver He CD282 TIL4 WEB: http://www.ncbi.nlm.nih.gov/gene TLR2 toll-like receptor 2 7097 4q32 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0001666 (EC: IEA); GO_0001875 (EC: TAS, PMID: 11518816); GO_0002224 (EC: TAS); GO_0002238 (EC: IEA); GO_0002282 (EC: IEA); GO_0002687 (EC: IEA); GO_0002752 (EC: IEA); GO_0002755 (EC: TAS); GO_0004872 (EC: IDA, PMID: 11672593); GO_0004888 (EC: IEA); GO_0005515 (EC: IPI, PMID: 10854325); GO_0005737 (EC: IDA, PMID: 19740627); GO_0005886 (EC: IDA, PMID: 19740627); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 9435236); GO_0006691 (EC: IEA); GO_0006915 (EC: TAS, PMID: 10426996); GO_0006954 (EC: IEA); GO_0006955 (EC: TAS, PMID: 10426995); GO_0007165 (EC: TAS, PMID: 11044375); GO_0007252 (EC: IDA, PMID: 19740627); GO_0008285 (EC: IEA); GO_0008329 (EC: IDA, PMID: 10384090); GO_0009636 (EC: IEA); GO_0009897 (EC: IEA); GO_0009986 (EC: IDA, PMID: 12443841); GO_0030177 (EC: IMP, PMID: 16601243); GO_0031663 (EC: TAS, PMID: 11518816); GO_0032289 (EC: IEA); GO_0032570 (EC: IEA); GO_0032695 (EC: IEA); GO_0032700 (EC: IEA); GO_0032722 (EC: IDA, PMID: 19740627); GO_0032728 (EC: ISS); GO_0032733 (EC: IEA); GO_0032735 (EC: ISS); GO_0032741 (EC: ISS); GO_0032755 (EC: IDA, PMID: 19740627); GO_0032757 (EC: IDA, PMID: 17128265); GO_0032760 (EC: ISS); GO_0032868 (EC: IEA); GO_0034123 (EC: IDA, PMID: 17128265); GO_0034134 (EC: TAS); GO_0034142 (EC: TAS); GO_0035354 (EC: IDA, PMID: 17889651); GO_0035355 (EC: IEA); GO_0038123 (EC: TAS); GO_0038124 (EC: TAS); GO_0042346 (EC: IDA, PMID: 19740627); GO_0042495 (EC: IDA, PMID: 19931471); GO_0042496 (EC: IDA, PMID: 19931471); GO_0042497 (EC: IDA, PMID: 17889651); GO_0042498 (EC: IEA); GO_0042535 (EC: IEA); GO_0042834 (EC: IDA, PMID: 11986301); GO_0042892 (EC: IEA); GO_0042995 (EC: IEA); GO_0044130 (EC: IEA); GO_0044297 (EC: IEA); GO_0045087 (EC: TAS, PMID: 15356140); GO_0045429 (EC: IEA); GO_0045944 (EC: ISS); GO_0046209 (EC: IEA); GO_0046982 (EC: IDA, PMID: 17889651); GO_0048714 (EC: IEA); GO_0050715 (EC: IEA); GO_0050729 (EC: IC, PMID: 19740627); GO_0050830 (EC: IDA, PMID: 11521063); GO_0051092 (EC: IDA, PMID: 12594207); GO_0051770 (EC: ISS); GO_0052033 (EC: IEA); GO_0052063 (EC: IEA); GO_0060907 (EC: IEA); GO_0070542 (EC: IEA); GO_0070891 (EC: IEA); GO_0071221 (EC: TAS, PMID: 15356140); GO_0071223 (EC: IDA, PMID: 12594207); GO_0071224 (EC: IEA); GO_0071726 (EC: IDA, PMID: 19931471); GO_0071727 (EC: IDA, PMID: 19931471) PMID: 9435236; 9596645; 9751057; 10384090; 10395652; 10426995; 10426996; 10548109; 10854325; 10963608; 11035751; 11044375; 11081518; 11101877; 11160242; 11222859; 11276206; 11441107; 11476982; 11477091; 11518816; 11521063; 11561001; 11672593; 11724772; 11751856; 11782555; 11836257; 11842086; 11867630; 11867688; 11877429; 11894098; 11912201; 11932927; 11986301; 12023360; 12061629; 12077222; 12089142; 12163593; 12171914; 12207338; 12270725; 12356755; 12397021; 12437972; 12438323; 12443841; 12445799; 12471095; 12477932; 12525572; 12538701; 12540550; 12588460; 12594207; 12630564; 12646604; 12651614; 12663765; 12734363; 12734376; 12810071; 12816980; 12817025; 12860988; 12874236; 12941697; 12942028; 12946842; 12958190; 12966099; 12975352; 14500665; 14551607; 14607814; 14625308; 14651524; 14662888; 14673018; 14694183; 14706103; 14706104; 14707104; 14709406; 14738464; 14966134; 14979495; 14981245; 14987294; 15007072; 15007351; 15007364; 15041961; 15044215; 15064239; 15107846; 15138193; 15146245; 15146246; 15146415; 15148609; 15155685; 15173186; 15175649; 15210811; 15214053; 15247273; 15247281; 15272059; 15276183; 15305230; 15319868; 15321997; 15322009; 15342637; 15356140; 15385480; 15456896; 15489334; 15489631; 15496409; 15501775; 15516360; 15521019; 15539529; 15583145; 15585865; 15657077; 15670752; 15670766; 15696084; 15699513; 15717270; 15726416; 15728506; 15731031; 15731043; 15731050; 15753758; 15760452; 15760459; 15778388; 15790341; 15793154; 15814732; 15864780; 15875151; 15910421; 15919371; 15955814; 15968536; 16002719; 16004610; 16024789; 16034117; 16035096; 16081826; 16107886; 16115866; 16146574; 16177110; 16179594; 16213463; 16230348; 16239565; 16242370; 16267105; 16270639; 16283346; 16290232; 16293622; 16336272; 16371473; 16374251; 16437124; 16439361; 16443229; 16455995; 16478769; 16482509; 16484229; 16497887; 16514159; 16517732; 16551363; 16601243; 16606450; 16608528; 16621981; 16629651; 16648973; 16712654; 16731773; 16751412; 16754684; 16754688; 16766226; 16767222; 16802353; 16818794; 16829623; 16843693; 16848791; 16861636; 16864901; 16878026; 16879199; 16880211; 16893894; 16901312; 16907704; 16950283; 16951309; 16955390; 16971956; 16973891; 16984411; 16988837; 17013994; 17020928; 17038528; 17045187; 17082324; 17082626; 17083795; 17096074; 17100621; 17126870; 17128265; 17130564; 17130790; 17172927; 17179672; 17187404; 17191175; 17196867; 17202359; 17205552; 17207025; 17227759; 17227763; 17229603; 17239937; 17258210; 17258734; 17264305; 17292969; 17301562; 17316370; 17322885; 17332447; 17389503; 17390084; 17395901; 17409197; 17443468; 17446209; 17456342; 17475853; 17481719; 17493681; 17522215; 17524268; 17531301; 17532476; 17554342; 17554618; 17555409; 17562761; 17563761; 17565608; 17565650; 17567674; 17588655; 17595233; 17599732; 17600044; 17624834; 17629003; 17640874; 17651447; 17652449; 17667860; 17669234; 17675516; 17676990; 17703412; 17709420; 17711514; 17713436; 17728249; 17854755; 17855767; 17855803; 17872459; 17877764; 17878165; 17878330; 17889651; 17892476; 17908769; 17913539; 17914947; 17916356; 17916440; 17928056; 17934735; 17934843; 17942642; 17956467; 17964520; 17967853; 17974158; 17984211; 18001294; 18006661; 18025115; 18028450; 18029454; 18040078; 18054497; 18056480; 18062119; 18067993; 18073264; 18089358; 18159247; 18167552; 18175935; 18177245; 18180796; 18191935; 18195069; 18201568; 18218857; 18219831; 18221795; 18234309; 18249133; 18266466; 18268386; 18275280; 18292749; 18295348; 18312481; 18325643; 18349186; 18354224; 18359883; 18368233; 18369480; 18394314; 18406368; 18411230; 18414649; 18419772; 18423053; 18424702; 18438411; 18441280; 18442320; 18445187; 18451040; 18454672; 18458086; 18458151; 18461142; 18474641; 18495130; 18516040; 18547625; 18549457; 18559343; 18565796; 18566366; 18571457; 18583567; 18596023; 18602432; 18618036; 18625015; 18641349; 18650783; 18651887; 18676680; 18678660; 18680520; 18684966; 18686608; 18704103; 18714935; 18722665; 18755634; 18765807; 18769358; 18773284; 18776592; 18802114; 18809506; 18810425; 18813073; 18818748; 18832719; 18846558; 18925411; 18930806; 18942754; 18946062; 18952897; 18975326; 18978205; 18983769; 19001446; 19012493; 19014987; 19015258; 19016779; 19019335; 19029192; 19033535; 19050632; 19061090; 19071087; 19096003; 19103770; 19106411; 19111445; 19120068; 19120486; 19120490; 19120971; 19121950; 19124728; 19128592; 19134118; 19139093; 19139198; 19141294; 19148143; 19148938; 19164296; 19167431; 19170196; 19172872; 19195606; 19196344; 19197942; 19200604; 19220214; 19247692; 19254290; 19258923; 19265130; 19275590; 19279330; 19280717; 19299164; 19306954; 19317913; 19336475; 19342676; 19378782; 19381722; 19392987; 19401382; 19401779; 19407153; 19412702; 19420105; 19423540; 19447045; 19454663; 19454721; 19455302; 19458089; 19479087; 19493410; 19503839; 19505919; 19509286; 19509287; 19522765; 19527514; 19528164; 19539691; 19541348; 19542461; 19543380; 19543401; 19545686; 19552525; 19554026; 19564644; 19573080; 19574958; 19592497; 19596998; 19597734; 19617348; 19622038; 19625176; 19627277; 19631014; 19635908; 19638314; 19648269; 19684606; 19686607; 19692168; 19693643; 19701803; 19723394; 19740627; 19758322; 19763595; 19766998; 19771447; 19771452; 19773279; 19796535; 19804908; 19810822; 19812189; 19814623; 19819943; 19830732; 19835594; 19843711; 19844258; 19849713; 19855253; 19874421; 19888805; 19913121; 19915052; 19917706; 19924287; 19931471; 19933854; 19948716; 19948975; 19948979; 19950169; 19953283; 19953876; 19956717; 19995893; 20002809; 20007698; 20011697; 20016852; 20020500; 20024498; 20041977; 20044219; 20056178; 20056792; 20057905; 20063104; 20067962; 20085599; 20090572; 20092701; 20098705; 20100933; 20109309; 20113368; 20113509; 20120936; 20147631; 20153491; 20154223; 20167866; 20169003; 20174873; 20194452; 20196868; 20198307; 20207250; 20222908; 20227302; 20232093; 20233331; 20237496; 20298136; 20307689; 20337891; 20338659; 20348427; 20348497; 20357716; 20363151; 20375602; 20379614; 20382708; 20384861; 20388081; 20388552; 20400509; 20402671; 20404927; 20406964; 20438785; 20441518; 20441696; 20448286; 20452482; 20454607; 20456615; 20463618; 20463690; 20472010; 20473500; 20483368; 20492495; 20492496; 20497180; 20497485; 20500688; 20503287; 20520770; 20525885; 20534434; 20549240; 20560984; 20568250; 20577092; 20577149; 20578945; 20581745; 20595247; 20598754; 20599261; 20601596; 20604744; 20614721; 20616112; 20626741; 20628086; 20628182; 20634913; 20646321; 20646366; 20646633; 20650298; 20673868; 20685742; 20686034; 20713893; 20714796; 20726329; 20730440; 20740673; 20797905; 20799043; 20800577; 20802527; 20805788; 20813038; 20815312; 20818954; 20818961; 20819778; 20821041; 20835611; 20849532; 20861605; 20877569; 20927103; 20933500; 20937339; 20940109; 20946179; 20947433; 20977567; 21048031; 21055975; 21060793; 21078852; 21097451; 21105983; 21107351; 21128061; 21134221; 21148810; 21163333; 21167252; 21168672; 21173310; 21178007; 21179035; 21188584; 21191086; 21206505; 21220755; 21224062; 21239179; 21246489; 21276007; 21281869; 21298446; 21303685; 21320563; 21321205; 21330474; 21343392; 21356257; 21371045; 21398611; 21406030; 21417682; 21424379; 21425908; 21426724; 21426732; 21437199; 21438704; 21443084; 21447101; 21454596; 21455638; 21460227; 21468605; 21474333; 21481769; 21483768; 21493395; 21500195; 21515468; 21518510; 21544941; 21563293; 21570715; 21570717; 21573018; 21600098; 21621299; 21625017; 21646294; 21673343; 21705332; 21709150; 21721932; 21768114; 21768203; 21775336; 21775683; 21783307; 21789185; 21789730; 21794115; 21825064; 21827211; 21829704; 21834467; 21841130; 21843566; 21845735; 21846836; 21848584; 21858161; 21883620; 21887520; 21897866; 21899704; 21902816; 21905008; 21923667; 21949112; 21950140; 21952587; 21956671; 21960283; 21978687; 21982724; 21989233; 21994405; 21998742; 22003201; 22021706; 22022564; 22030478; 22032785; 22041559; 22057691; 22067623; 22095710; 22100911; 22105995; 22126586; 22128242; 22133017; 22133266; 22166855; 22182736; 22186927; 22198949; 22210918; 22216191; 22219347; 22219617; 22221660; 22227093; 22229967; 22230402; 22251071; 22280448; 22292031; 22295065; 22303480; 22305616; 22309608; 22311043; 22330637; 22336003; 22359280; 22372604; 22402138; 22417709; 22429552; 22442665; 22453525; 22466961; 22467654; 22468087; 22491449; 22496225; 22513358; 22521894; 22523426; 22552867; 22555189; 22556042; 22560646; 22561467; 22608210; 22613713; 22623652; 22662111; 22673208; 22697069; 22707717; 22737215; 22777994; 22778396; 22792230; 22795952; 22815694; 22825445; 22842950; 22844428; 22848741; 22865347; 22870312; 22952638; 22963587; 22964787; 22982459; 22992740; 22998942; 22999059; 23026048; 23028414; 23062767; 23068105; 23079657; 23083518; 23086127; 23091345; 23102403; 23132491; 23133361; 23166414; 23200752; 23206327; 23211828; 23213270; 23219913; 23223142; 23230212; 23233677; 23239925; 23244658; 23255565; 23259689; 23281696; 23285751; 23289617; 23304186; 23380629; 23398566; 23407387; 23417037; 23417289; 23418602; 23425749; 23430250; 23437263; 23463005; 23478027; 23484049; 23486465; 23489702; 23504312; 23534406; 23555011; 23565226; 23578092; 23589304; 23593431; 23599654; 23606791; 23614732; 23616573; 23619473; 23626692; 23629653; 23638011; 23643268; 23644137; 23657466; 23663325; 23668840; 23671673; 23680675; 23684765; 23722608; 23747679; 23765228; 23786414; 23787127; 23821954; 23830055; 23855294; 23861881; 23864765; 23866094; 23875738; 23908180; 23946637; 23980810; 23985798; 24011352; 24051092; 24080302; 24116867; 24255044; 24277938; 24617037 toll-like receptor 2 HGNC:11848 HPRD:04323 MIM:603028 Other designations: toll/interleukin 1 receptor-like 4|toll/interleukin-1 receptor-like protein 4 TLR2 Bin Zhao, Yue Liu, Oliver He AWAL BEC1 CPETRL1 TMVCF WEB: http://www.ncbi.nlm.nih.gov/gene CLDN5 claudin 5 7122 22q11.21 20140408 9606 22 protein-coding Official from a nomenclature committee GO_0005198 (EC: IEA); GO_0005886 (EC: IEA); GO_0005911 (EC: IDA, PMID: 18065521); GO_0005923 (EC: ISS); GO_0016021 (EC: IEA); GO_0016338 (EC: ISS); GO_0033270 (EC: IEA); GO_0042552 (EC: IEA); GO_0042802 (EC: ISS); GO_0043220 (EC: IEA) PMID: 8125298; 8889548; 9192844; 9441748; 9892664; 10601346; 10690502; 11247307; 11283726; 11944085; 12231346; 12403818; 12475568; 12477932; 12734665; 12743111; 12909588; 14515355; 14702039; 15260435; 15363474; 15461802; 15489334; 15617864; 15820333; 16158492; 16181776; 16344560; 16514648; 16697675; 16959372; 17103306; 17585317; 17761522; 17765294; 18003888; 18036336; 18065521; 18329007; 18513742; 18604199; 18797402; 18817843; 18941231; 19168871; 19194274; 19231096; 19538285; 19706201; 19924644; 20044634; 20452046; 20478039; 20525806; 21168935; 21641584; 21717370; 21772312; 21857898; 21959309; 22002662; 22038628; 22235125; 22333621; 22389112; 22448134; 22559840; 22591361; 22700861; 23000880; 23115643; 23288152; 23465821; 23474739; 23505411 claudin 5 Ensembl:ENSG00000184113 HGNC:2047 HPRD:03654 MIM:602101 Vega:OTTHUMG00000150441 Other designations: TMDVCF|claudin-5|transmembrane protein deleted in VCFS|transmembrane protein deleted in velocardiofacial syndrome CLDN5 Bin Zhao, Yue Liu, Oliver He TOP2 TP2A WEB: http://www.ncbi.nlm.nih.gov/gene TOP2A topoisomerase (DNA) II alpha 170kDa 7153 17q21-q22 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0000228 (EC: IDA, Qualifier: colocalizes_with, PMID: 9049244); GO_0000278 (EC: TAS); GO_0000287 (EC: IDA); GO_0000712 (EC: IBA); GO_0000795 (EC: IBA); GO_0000819 (EC: IBA); GO_0003677 (EC: IDA, PMID: 10788521); GO_0003682 (EC: IDA, PMID: 9049244); GO_0003918 (EC: IDA, PMID: 16611985); GO_0005080 (EC: IPI, PMID: 16611985); GO_0005515 (EC: IPI, PMID: 10788521); GO_0005524 (EC: IEA); GO_0005634 (EC: IDA); GO_0005654 (EC: IDA, PMID: 9049244); GO_0005654 (EC: TAS); GO_0005730 (EC: IDA); GO_0005730 (EC: IDA, Qualifier: NOT, PMID: 9049244); GO_0005814 (EC: IDA, Qualifier: colocalizes_with, PMID: 9049244); GO_0006200 (EC: IDA, PMID: 12079377); GO_0006260 (EC: NAS, PMID: 15504738); GO_0006261 (EC: IBA); GO_0006265 (EC: IBA); GO_0006265 (EC: IDA); GO_0006266 (EC: IDA, PMID: 15491148); GO_0006281 (EC: NAS, PMID: 15504738); GO_0006312 (EC: IBA); GO_0006974 (EC: IDA, PMID: 16611985); GO_0007059 (EC: IMP, PMID: 11136718); GO_0008022 (EC: IPI, PMID: 10666337); GO_0008094 (EC: IDA, PMID: 12079377); GO_0008144 (EC: IDA, PMID: 16914642); GO_0008301 (EC: IDA); GO_0009295 (EC: IBA, Qualifier: NOT); GO_0009330 (EC: IDA, PMID: 10473615); GO_0019035 (EC: NAS, Qualifier: colocalizes_with, PMID: 16712776); GO_0019899 (EC: IPI, PMID: 10959840); GO_0030263 (EC: IDA, PMID: 10959840); GO_0040016 (EC: IEA); GO_0042803 (EC: IPI, PMID: 10473615); GO_0042826 (EC: IPI, PMID: 11062478); GO_0043065 (EC: IDA, PMID: 16611985); GO_0043130 (EC: IMP, PMID: 15965487); GO_0043234 (EC: IPI, PMID: 16611985); GO_0044822 (EC: IDA); GO_0045070 (EC: IMP, PMID: 16712776); GO_0045870 (EC: IMP, PMID: 16712776); GO_0045944 (EC: IEA); GO_0046982 (EC: IPI, PMID: 10473615); GO_0048015 (EC: NAS, PMID: 15504738) PMID: 1309226; 1373318; 1652758; 2556712; 2836804; 2845399; 6267071; 7499337; 7585537; 7635160; 7961967; 7980433; 8166723; 8387155; 8393377; 8710863; 8939955; 9049244; 9795238; 9804834; 10095062; 10207078; 10393912; 10465010; 10473615; 10646863; 10666337; 10788521; 10862613; 10942766; 10959840; 11062478; 11101529; 11111056; 11136718; 11444988; 11574892; 11790298; 11799067; 11862483; 11927602; 11940566; 11940573; 11958416; 12001123; 12014628; 12078518; 12079377; 12237772; 12356743; 12393188; 12429798; 12429800; 12429910; 12477932; 12480934; 12569090; 12646164; 12646941; 12691917; 12711669; 12821127; 12832072; 12859955; 14566826; 14596941; 14632727; 14702039; 14759373; 14978217; 14989736; 14991576; 14996935; 15034300; 15037624; 15044480; 15126503; 15182198; 15201855; 15302935; 15375522; 15456904; 15491148; 15504738; 15602006; 15635413; 15809708; 15899781; 15965487; 16009940; 16053917; 16091284; 16114891; 16139951; 16188892; 16213649; 16230076; 16234514; 16236267; 16271071; 16344560; 16507781; 16533424; 16533774; 16565220; 16611985; 16682295; 16712776; 16864174; 16914642; 16964243; 16990717; 17072627; 17081983; 17182034; 17212588; 17289897; 17314511; 17361331; 17388661; 17410335; 17453369; 17512033; 17526531; 17567603; 17607373; 17636313; 17717428; 17922046; 17956945; 17983804; 17998154; 18029348; 18045852; 18062778; 18162055; 18162579; 18171681; 18204862; 18247557; 18332872; 18347177; 18381449; 18394993; 18402387; 18465341; 18520795; 18544048; 18596031; 18632987; 18653531; 18702822; 18781797; 18790802; 18815879; 18824478; 18824850; 18927283; 19003983; 19019771; 19053267; 19061514; 19074885; 19080257; 19098900; 19111388; 19185918; 19222228; 19223331; 19270648; 19321449; 19329795; 19394292; 19401546; 19428368; 19454010; 19458360; 19471022; 19485418; 19539329; 19582575; 19596686; 19620488; 19661031; 19661040; 19670699; 19695223; 19697956; 19713842; 19729798; 19738201; 19885609; 19886180; 19913893; 19945923; 19956605; 19956635; 20021828; 20029472; 20079182; 20085707; 20089371; 20130985; 20170164; 20184667; 20194637; 20360068; 20369487; 20422488; 20441774; 20497003; 20504901; 20557373; 20655466; 20688355; 20697251; 20709174; 20797634; 20800603; 20813715; 20824055; 21062978; 21067592; 21126478; 21139048; 21145461; 21182205; 21189395; 21229879; 21252292; 21252943; 21254166; 21288332; 21435434; 21450455; 21455636; 21461646; 21506336; 21519837; 21549307; 21595939; 21614903; 21629784; 21667123; 21681601; 21693764; 21705665; 21734419; 21761866; 21768308; 21875466; 21878638; 21880040; 21890473; 21906983; 21917518; 21963094; 21987572; 22076611; 22111588; 22113938; 22153616; 22160858; 22168383; 22178446; 22190034; 22203181; 22240029; 22281973; 22300273; 22323612; 22374418; 22375014; 22412018; 22426810; 22452920; 22496876; 22505724; 22555090; 22563370; 22569122; 22623428; 22672768; 22679013; 22706628; 22730815; 22841979; 22864769; 22871798; 22939629; 23000965; 23020778; 23135572; 23163762; 23214297; 23349762; 23388101; 23398928; 23473851; 23508957; 23533247; 23698369; 23850692; 23860238; 23897556 topoisomerase (DNA) II alpha 170kDa Ensembl:ENSG00000131747 HGNC:11989 HPRD:00536 MIM:126430 Vega:OTTHUMG00000155008 Other designations: DNA gyrase|DNA topoisomerase (ATP-hydrolyzing)|DNA topoisomerase 2-alpha|DNA topoisomerase II, 170 kD|DNA topoisomerase II, alpha isozyme TOP2A Bin Zhao, Yue Liu, Oliver He EBI6 MGC:10353 WEB: http://www.ncbi.nlm.nih.gov/gene TRAF1 TNF receptor-associated factor 1 7185 9q33-q34 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 11279055); GO_0005737 (EC: TAS, PMID: 8069916); GO_0006461 (EC: TAS, PMID: 8069916); GO_0006915 (EC: IEA); GO_0007165 (EC: IEA); GO_0008270 (EC: IEA); GO_0031625 (EC: IPI, PMID: 11279055); GO_0031996 (EC: IPI, PMID: 11279055); GO_0043123 (EC: RCA, PMID: 19641626); GO_0051092 (EC: IDA, PMID: 10692572); GO_2001236 (EC: IDA, PMID: 10692572) PMID: 7527023; 7859281; 8069916; 8548810; 8565075; 8612133; 8627180; 8662842; 8692885; 8702708; 8710854; 8943045; 9104814; 9162022; 9168896; 9208847; 9275204; 9300817; 9384571; 9418902; 9464265; 9488716; 9500555; 9607925; 9642260; 9705938; 9718306; 9774460; 9774977; 9794406; 9852070; 9928991; 10025951; 10037686; 10411888; 10514511; 10544141; 10635328; 10692572; 10809768; 10837247; 10903733; 11035039; 11098060; 11181075; 11278268; 11279055; 11313261; 11384837; 11435475; 11607847; 11696595; 11728344; 11804591; 11907583; 12089335; 12411322; 12477932; 12529173; 12709429; 12887920; 14557256; 14743216; 14981539; 14982987; 15084608; 15383523; 15468071; 15489334; 15707590; 15941918; 15944293; 16304992; 16323247; 16713569; 16891304; 17207965; 17235653; 17405906; 17544371; 17804836; 17827388; 17880261; 18429822; 18432273; 18434327; 18576341; 18593758; 18625278; 18759306; 18794853; 19023125; 19110536; 19116907; 19180477; 19287455; 19336370; 19336421; 19394292; 19401279; 19416238; 19433411; 19453261; 19503088; 19540595; 19565500; 19617629; 19641626; 19674979; 19698991; 19714643; 19741008; 19795416; 19902201; 19913121; 19918040; 20030635; 20049410; 20056178; 20138174; 20205706; 20219786; 20233754; 20237496; 20353580; 20385093; 20413583; 20439292; 20444755; 20447407; 20453842; 20479942; 20498205; 20614026; 20628086; 20797713; 20800603; 20822712; 20856938; 20962850; 21048031; 21139048; 21153322; 21383967; 21492465; 21724995; 21903422; 21968398; 21988832; 22184633; 22196377; 22284611; 22586175; 22820624; 23088713; 23125866; 23242182; 23321589; 23381138; 23414308; 23524849; 23543740; 23710202; 23798571; 23918987 TNF receptor-associated factor 1 Ensembl:ENSG00000056558 HGNC:12031 HPRD:03418 MIM:601711 Other designations: Epstein-Bar virus-induced protein 6 TRAF1 Bin Zhao, Yue Liu, Oliver He MGC:45012 TRAP TRAP3 WEB: http://www.ncbi.nlm.nih.gov/gene TRAF2 TNF receptor-associated factor 2 7186 9q34 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0002726 (EC: IMP, PMID: 15125833); GO_0004842 (EC: IDA, PMID: 15258597); GO_0004871 (EC: NAS, PMID: 8702708); GO_0005164 (EC: IPI, PMID: 11279055); GO_0005174 (EC: ISS); GO_0005515 (EC: IPI, PMID: 10514511); GO_0005737 (EC: IDA); GO_0005829 (EC: TAS); GO_0005938 (EC: IEA); GO_0006461 (EC: TAS, PMID: 8702708); GO_0006915 (EC: TAS); GO_0006919 (EC: TAS); GO_0007165 (EC: TAS, PMID: 8702708); GO_0007250 (EC: IMP, PMID: 15125833); GO_0008270 (EC: IEA); GO_0009898 (EC: ISS); GO_0019899 (EC: IPI, PMID: 16636664); GO_0019903 (EC: IPI, PMID: 15696169); GO_0030163 (EC: IEA); GO_0031435 (EC: IEA); GO_0031625 (EC: IPI, PMID: 11279055); GO_0031996 (EC: IPI, PMID: 11279055); GO_0032403 (EC: IEA); GO_0032743 (EC: IMP, PMID: 15125833); GO_0033209 (EC: IDA, PMID: 11907583); GO_0034351 (EC: IEA); GO_0035631 (EC: ISS); GO_0042802 (EC: IPI, PMID: 16189514); GO_0042981 (EC: IDA, PMID: 11907583); GO_0043507 (EC: IDA, PMID: 11907583); GO_0043623 (EC: ISS); GO_0045087 (EC: TAS); GO_0045121 (EC: IEA); GO_0046625 (EC: IDA); GO_0050870 (EC: IC, PMID: 15125833); GO_0051023 (EC: IEA); GO_0051091 (EC: IMP, PMID: 12296995); GO_0051092 (EC: IDA, PMID: 11279055); GO_0051092 (EC: IMP, PMID: 12296995); GO_0051291 (EC: IEA); GO_0051865 (EC: IDA); GO_0051865 (EC: TAS, PMID: 16378096); GO_0070207 (EC: IPI); GO_0070534 (EC: IDA, PMID: 15258597); GO_0090073 (EC: IMP, PMID: 11278723); GO_0097190 (EC: TAS); GO_2001238 (EC: IMP); GO_2001239 (EC: TAS) PMID: 7639698; 7758105; 8069916; 8125298; 8548810; 8565075; 8612133; 8627180; 8643514; 8662842; 8692885; 8702708; 8710854; 8875942; 8943045; 8985011; 8999898; 9020361; 9104814; 9153189; 9162022; 9168896; 9208847; 9244310; 9275204; 9353251; 9384571; 9418902; 9461607; 9464265; 9488716; 9500555; 9582383; 9607925; 9685412; 9692890; 9705938; 9712898; 9718306; 9733516; 9774460; 9774977; 9794406; 9827693; 9852070; 9990007; 10025951; 10037686; 10075662; 10206649; 10339433; 10346818; 10352240; 10411888; 10477597; 10490605; 10514511; 10521462; 10523862; 10544141; 10581243; 10617615; 10650002; 10753917; 10759890; 10764746; 10809768; 10837247; 10880535; 10882101; 10892748; 10903733; 10911999; 10980203; 10990461; 11035039; 11057907; 11064452; 11112773; 11181075; 11278268; 11278723; 11279055; 11340079; 11359906; 11384837; 11435475; 11466612; 11479302; 11562359; 11607847; 11728344; 11777919; 11784851; 11798190; 11804591; 11805080; 11821416; 11882293; 11907088; 11907583; 11909853; 11932422; 11971184; 12005438; 12136106; 12169272; 12220533; 12296995; 12411322; 12411493; 12477932; 12529173; 12547194; 12571250; 12591926; 12637493; 12796506; 12842894; 12843613; 12867425; 12887920; 12917689; 12917690; 12917691; 14517219; 14557256; 14585990; 14633987; 14644197; 14702039; 14741690; 14743216; 14982987; 15084608; 15121867; 15125833; 15208311; 15258597; 15265700; 15308666; 15310755; 15327770; 15383523; 15485634; 15485837; 15489334; 15670770; 15670977; 15696169; 15707590; 15708970; 15743837; 15861135; 15941918; 15944293; 16009713; 16153868; 16189514; 16214042; 16227629; 16260598; 16263936; 16282325; 16291755; 16304992; 16311516; 16341674; 16378096; 16446357; 16603398; 16611992; 16636664; 16713569; 16876162; 16891304; 16936264; 17015619; 17314283; 17379600; 17384642; 17389591; 17544371; 17599408; 17626074; 17724081; 17851586; 17923499; 18022363; 18024283; 18029348; 18069092; 18230756; 18271526; 18292192; 18312353; 18362156; 18362886; 18671942; 18776134; 18787502; 18818748; 18827186; 18950704; 18981220; 18990758; 19019335; 19150425; 19151112; 19234489; 19243308; 19287455; 19336370; 19380743; 19453261; 19506082; 19527514; 19573080; 19584093; 19586614; 19667091; 19690440; 19773279; 19795416; 19810754; 19815509; 19815541; 19937093; 20005846; 20047764; 20056178; 20064526; 20133937; 20138174; 20184394; 20237496; 20333651; 20348096; 20368287; 20385093; 20447407; 20448643; 20449947; 20562859; 20568250; 20577214; 20585848; 20614026; 20628086; 20676093; 20732415; 20856938; 20949042; 20972266; 20974987; 21041452; 21041727; 21071692; 21078302; 21078624; 21119000; 21139048; 21229359; 21266470; 21282461; 21282507; 21289304; 21325409; 21331077; 21421854; 21620750; 21653699; 21793045; 21810480; 21864338; 21886773; 21890473; 21903422; 21906983; 21921033; 21963094; 21987572; 21988832; 22029577; 22078441; 22167321; 22170762; 22179575; 22184250; 22195745; 22212761; 22271254; 22343716; 22505724; 22525270; 22550173; 22585859; 22685297; 22711886; 22732732; 22792062; 22847298; 22863753; 23000965; 23007157; 23051914; 23088713; 23142077; 23160117; 23188828; 23301098; 23319823; 23357418; 23381138; 23405219; 23414308; 23453969; 23524849; 23543740; 23595117; 23608757; 23624947; 23638224; 23690480; 23743189; 23754945; 23775076; 23885119; 23890813; 23918987; 23972990; 24008839; 24434549; 24457600 TNF receptor-associated factor 2 Ensembl:ENSG00000127191 HGNC:12032 HPRD:03538 MIM:601895 Vega:OTTHUMG00000020952 Other designations: E3 ubiquitin-protein ligase TRAF2|tumor necrosis factor type 2 receptor associated protein 3|tumor necrosis factor type 2 receptor-associated protein 3 TRAF2 Bin Zhao, Yue Liu, Oliver He ADMCKD2 FJHN HNFJ HNFJ1 MCKD2 THGP THP WEB: http://www.ncbi.nlm.nih.gov/gene UMOD uromodulin 7369 16p12.3 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0000922 (EC: IDA); GO_0005509 (EC: IEA); GO_0005615 (EC: IEA); GO_0005794 (EC: IEA); GO_0006968 (EC: TAS, PMID: 2409603); GO_0007588 (EC: IEA); GO_0008285 (EC: TAS, PMID: 2409603); GO_0010033 (EC: IEA); GO_0016323 (EC: IDA, PMID: 7028707); GO_0016324 (EC: IDA, PMID: 18025791); GO_0019898 (EC: TAS, PMID: 7873609); GO_0031225 (EC: IDA); GO_0031410 (EC: IEA); GO_0045121 (EC: IEA); GO_0048878 (EC: IEA); GO_0060170 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867); GO_0072218 (EC: IEA); GO_0072221 (EC: IEA); GO_0072233 (EC: IEA); GO_0072372 (EC: IDA); GO_2000021 (EC: IEA) PMID: 2249987; 2409603; 3453112; 3498215; 7028707; 7873609; 8323280; 8382593; 8397318; 9873244; 9884403; 10330352; 10765940; 11730273; 11932463; 11982485; 12471200; 12477932; 12624657; 12629136; 12832729; 12900848; 14531790; 14569098; 14570709; 14570881; 14702039; 14907962; 15033942; 15086896; 15253706; 15266028; 15327389; 15489334; 15575003; 15589826; 15785410; 15983957; 16164624; 16344560; 16982955; 17010121; 17065110; 17151335; 17245395; 18025791; 18047931; 18068104; 18351395; 18375198; 18409515; 18409531; 18455532; 18600511; 18651238; 18830570; 18846391; 18950917; 19056867; 19203555; 19430482; 19465746; 19959715; 20075439; 20151160; 20172860; 20222955; 20237496; 20301530; 20383146; 20624112; 20686651; 20948228; 21067798; 21081491; 21082022; 21109754; 21332338; 21358122; 21473025; 21546974; 21738052; 21868615; 22034507; 22087292; 22117067; 22132988; 22237754; 22538938; 22592667; 22693617; 22776760; 22797727; 22947327; 22997256; 23009031; 23060289; 23197950; 23344472; 23421394; 23577616; 23723338; 23988501; 24185693 uromodulin Ensembl:ENSG00000169344 HGNC:12559 HPRD:11771 MIM:191845 Vega:OTTHUMG00000131488 Other designations: Tamm-Horsfall urinary glycoprotein|uromucoid UMOD Bin Zhao, Yue Liu, Oliver He UP2 UPII WEB: http://www.ncbi.nlm.nih.gov/gene UPK2 uroplakin 2 7379 11q23 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0005887 (EC: TAS, PMID: 8175808); GO_0007275 (EC: TAS, PMID: 9515818); GO_0016324 (EC: IEA); GO_0030176 (EC: IEA); GO_0030855 (EC: IDA, PMID: 10514386); GO_0061024 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 7507484; 8175808; 8530366; 9515818; 9846985; 10404304; 10458411; 10514386; 12097284; 12475947; 12477932; 12792753; 15489334; 16116969; 17012268; 18440837; 19056867; 21906983 uroplakin 2 Ensembl:ENSG00000110375 HGNC:12579 HPRD:10295 MIM:611558 Vega:OTTHUMG00000166346 Other designations: uroplakin II|uroplakin-2 UPK2 Bin Zhao, Yue Liu, Oliver He UP3A UPIII UPIIIA UPK3 WEB: http://www.ncbi.nlm.nih.gov/gene UPK3A uroplakin 3A 7380 CTA-268H5.10-002 22q13.31 20140408 9606 22 protein-coding Official from a nomenclature committee GO_0000902 (EC: IEA); GO_0001822 (EC: IEA); GO_0005789 (EC: IEA); GO_0006833 (EC: IEA); GO_0015840 (EC: IEA); GO_0016021 (EC: IEA); GO_0016324 (EC: IEA); GO_0030855 (EC: IDA, PMID: 10514386); GO_0055075 (EC: IEA); GO_0055078 (EC: IEA); GO_0060157 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 8889548; 9818021; 9846985; 10514386; 12474225; 12475947; 12477932; 14654529; 14713856; 15461802; 15489334; 16731295; 17698128; 17880289; 18313120; 18528285; 19007907; 19056867; 19412341; 19959718; 22632162; 23541324 uroplakin 3A Ensembl:ENSG00000100373 HGNC:12580 HPRD:15625 MIM:611559 Vega:OTTHUMG00000151339 Other designations: uroplakin III|uroplakin-3a UPK3A Bin Zhao, Yue Liu, Oliver He CD106 INCAM-100 WEB: http://www.ncbi.nlm.nih.gov/gene VCAM1 vascular cell adhesion molecule 1 7412 1p32-p31 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001666 (EC: IEA); GO_0002102 (EC: IDA, PMID: 15220135); GO_0002526 (EC: IEA); GO_0002544 (EC: IEA); GO_0005178 (EC: IDA, PMID: 1377228); GO_0005178 (EC: IMP, PMID: 19738201); GO_0005615 (EC: IDA, PMID: 9290466); GO_0005769 (EC: IDA); GO_0005783 (EC: IDA); GO_0005794 (EC: IDA); GO_0005886 (EC: TAS); GO_0005902 (EC: IDA, PMID: 12082081); GO_0007155 (EC: IDA, PMID: 16809613); GO_0007157 (EC: IDA, PMID: 1715889); GO_0007159 (EC: IDA, PMID: 1381355); GO_0007507 (EC: IEA); GO_0007568 (EC: IEA); GO_0007584 (EC: IEA); GO_0008131 (EC: IDA); GO_0009308 (EC: IDA); GO_0009897 (EC: IDA, PMID: 1377228); GO_0009986 (EC: IDA, PMID: 1715889); GO_0010043 (EC: IEA); GO_0010212 (EC: IEA); GO_0016021 (EC: IEA); GO_0016032 (EC: IEA); GO_0019221 (EC: TAS); GO_0022614 (EC: IEP, PMID: 12082081); GO_0030175 (EC: IDA, PMID: 12082081); GO_0030183 (EC: IC, PMID: 1715889); GO_0030198 (EC: TAS); GO_0032496 (EC: IEA); GO_0035094 (EC: IEA); GO_0035924 (EC: IEA); GO_0042102 (EC: IDA, PMID: 1381355); GO_0042383 (EC: IEA); GO_0045177 (EC: IDA, PMID: 12082081); GO_0045471 (EC: IEA); GO_0050776 (EC: TAS); GO_0050839 (EC: IDA, PMID: 1377228); GO_0050839 (EC: IPI, PMID: 12082081); GO_0050901 (EC: IEP, PMID: 2688898); GO_0055114 (EC: IDA); GO_0060326 (EC: IEA); GO_0060333 (EC: TAS); GO_0060710 (EC: IEA); GO_0071065 (EC: IDA, PMID: 15220135); GO_0071333 (EC: IEA); GO_0071356 (EC: IEA) PMID: 1281211; 1377228; 1379595; 1381355; 1699207; 1707234; 1707873; 1713772; 1715583; 1715889; 2688898; 7521694; 7531291; 7534402; 7539925; 7545397; 7691867; 7884872; 8125298; 8607877; 8825878; 8977311; 9117345; 9184636; 9269771; 9290466; 9443894; 9603478; 9792375; 9973426; 10209034; 10377075; 10438935; 10477700; 10556825; 10602408; 10623819; 10944555; 11123288; 11517385; 11520773; 11776680; 11817523; 11847011; 11882338; 11904449; 11922919; 11929779; 11935152; 11961404; 11963839; 11983205; 12006387; 12082081; 12086338; 12097820; 12105209; 12115600; 12172318; 12172576; 12193695; 12351381; 12387879; 12393616; 12433638; 12477932; 12493764; 12587980; 12601490; 12643440; 12650924; 12673844; 12682249; 12700137; 12704784; 12714597; 12759453; 12788528; 12871600; 12940514; 12958610; 12969778; 14534081; 14550782; 14592496; 14615367; 14684616; 14691297; 14741380; 14748068; 14762656; 14984317; 15009098; 15059493; 15078922; 15080580; 15116247; 15175347; 15194470; 15220135; 15225366; 15265790; 15299708; 15304054; 15308572; 15340161; 15489334; 15489374; 15489375; 15525877; 15548573; 15661077; 15661918; 15666579; 15710215; 15784173; 15805138; 15806475; 15845907; 15979542; 16002075; 16015337; 16127297; 16184405; 16230423; 16242117; 16317091; 16327982; 16335952; 16344560; 16498082; 16585601; 16644735; 16722038; 16790997; 16809613; 16874958; 16902065; 16914554; 16977262; 16987074; 17008592; 17022986; 17090406; 17115186; 17116732; 17126824; 17142773; 17167725; 17192354; 17255534; 17258924; 17292586; 17303384; 17334226; 17352405; 17430469; 17431880; 17437524; 17497038; 17517105; 17521609; 17530710; 17531998; 17560459; 17564956; 17586618; 17597073; 17599409; 17616653; 17657162; 17678915; 17702963; 17703412; 17706337; 17706953; 17714716; 17891599; 17906965; 17922685; 17943642; 17962718; 17963163; 17964973; 17983593; 18078450; 18160848; 18197885; 18212564; 18227515; 18284603; 18326231; 18383329; 18406566; 18420209; 18421029; 18449421; 18462748; 18473733; 18482273; 18490752; 18504269; 18554449; 18564921; 18574676; 18582564; 18597403; 18600396; 18613029; 18618671; 18628303; 18633131; 18636124; 18656701; 18666029; 18676680; 18676870; 18692491; 18707907; 18761738; 18778820; 18787016; 18787184; 18791689; 18813849; 18828734; 18834676; 18846968; 18930765; 18974842; 19002703; 19021457; 19022587; 19028820; 19057841; 19074885; 19131662; 19134480; 19136619; 19170196; 19208843; 19210349; 19225544; 19229069; 19236760; 19237221; 19242838; 19247692; 19249917; 19258923; 19281832; 19342863; 19353432; 19379571; 19391499; 19399399; 19407977; 19407978; 19417018; 19422386; 19423540; 19452728; 19479237; 19520742; 19526283; 19540498; 19542447; 19554506; 19559392; 19573080; 19597294; 19604093; 19625176; 19692168; 19717975; 19729601; 19738201; 19771922; 19773279; 19812370; 19887846; 19913121; 19948975; 20039412; 20056178; 20112284; 20164172; 20184510; 20197690; 20217071; 20219985; 20233927; 20237496; 20360250; 20405289; 20406964; 20416077; 20430730; 20438785; 20447702; 20482449; 20485444; 20503287; 20508517; 20536507; 20568250; 20573493; 20602615; 20603037; 20628086; 20685094; 20714774; 20851866; 20864106; 20880684; 20929696; 20935502; 20966071; 21030716; 21037509; 21073443; 21099224; 21144825; 21162967; 21172429; 21177856; 21183871; 21184654; 21214384; 21236267; 21381877; 21520070; 21540635; 21562063; 21594636; 21632263; 21641584; 21804483; 21808112; 21833088; 21843619; 21895545; 21900123; 22001052; 22014578; 22031842; 22093255; 22137570; 22137794; 22183741; 22195873; 22209080; 22209338; 22269951; 22298164; 22324942; 22366735; 22374129; 22384064; 22448134; 22463742; 22497223; 22505707; 22539325; 22552687; 22591361; 22593994; 22623428; 22664325; 22694757; 22717098; 22719189; 22734001; 22740338; 22742445; 22874466; 22879387; 22905988; 22976263; 23042271; 23057424; 23058024; 23117931; 23185512; 23232649; 23242661; 23285079; 23313051; 23336423; 23344094; 23349048; 23396735; 23463506; 23665024; 23677452; 23679262; 23704882; 23792525; 23934855; 24045955; 24157824; 24282904 vascular cell adhesion molecule 1 Ensembl:ENSG00000162692 HGNC:12663 HPRD:01888 MIM:192225 Vega:OTTHUMG00000010982 Other designations: CD106 antigen|vascular cell adhesion protein 1 VCAM1 Bin Zhao, Yue Liu, Oliver He MVCD1 VEGF VPF WEB: http://www.ncbi.nlm.nih.gov/gene VEGFA vascular endothelial growth factor A 7422 RP1-261G23.1 6p12 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0000122 (EC: IDA, PMID: 18093989); GO_0001525 (EC: IDA, PMID: 11427521); GO_0001541 (EC: ISS); GO_0001569 (EC: ISS); GO_0001570 (EC: TAS, PMID: 15015550); GO_0001666 (EC: IDA, PMID: 16490744); GO_0001701 (EC: ISS); GO_0001822 (EC: ISS); GO_0001934 (EC: IDA, PMID: 18386220); GO_0001938 (EC: IDA, PMID: 10022831); GO_0001938 (EC: ISS); GO_0001968 (EC: IDA, PMID: 14570917); GO_0002042 (EC: IDA, PMID: 18059339); GO_0002052 (EC: ISS); GO_0002053 (EC: ISS); GO_0002092 (EC: IDA); GO_0002575 (EC: IDA, PMID: 17082651); GO_0002576 (EC: TAS); GO_0002687 (EC: TAS, PMID: 1312256); GO_0003007 (EC: ISS); GO_0003151 (EC: ISS); GO_0003169 (EC: ISS); GO_0005125 (EC: IDA, PMID: 18440775); GO_0005125 (EC: ISS); GO_0005161 (EC: IPI, PMID: 17470632); GO_0005172 (EC: IPI, PMID: 10471394); GO_0005515 (EC: IPI, PMID: 10543948); GO_0005576 (EC: TAS); GO_0005578 (EC: NAS, PMID: 14570917); GO_0005615 (EC: IDA, PMID: 16490744); GO_0005615 (EC: ISS); GO_0005737 (EC: IDA, PMID: 17082651); GO_0006357 (EC: IMP, PMID: 18093989); GO_0007399 (EC: TAS, PMID: 15351965); GO_0007498 (EC: ISS); GO_0007595 (EC: ISS); GO_0007596 (EC: TAS); GO_0008083 (EC: IDA); GO_0008083 (EC: ISS); GO_0008201 (EC: IDA, PMID: 15001987); GO_0008201 (EC: IMP, PMID: 14570917); GO_0008284 (EC: IDA, PMID: 7929439); GO_0008360 (EC: IDA, PMID: 10527820); GO_0009986 (EC: IDA, PMID: 17470632); GO_0010595 (EC: IDA, PMID: 10022831); GO_0010628 (EC: IDA, PMID: 18386220); GO_0016020 (EC: IEA); GO_0030141 (EC: IDA, PMID: 17082651); GO_0030168 (EC: TAS); GO_0030224 (EC: IDA); GO_0030225 (EC: IDA); GO_0030324 (EC: ISS); GO_0030335 (EC: IDA, PMID: 17470632); GO_0030855 (EC: ISS); GO_0030949 (EC: IDA, PMID: 1312256); GO_0031077 (EC: ISS); GO_0031093 (EC: TAS); GO_0031334 (EC: IDA, PMID: 16489009); GO_0031954 (EC: IDA, PMID: 17470632); GO_0032147 (EC: IDA, PMID: 18059339); GO_0032793 (EC: IDA); GO_0033138 (EC: IDA, PMID: 18440775); GO_0035148 (EC: IDA, PMID: 19033661); GO_0035767 (EC: IDA, PMID: 18440775); GO_0035924 (EC: IDA, PMID: 18440775); GO_0036303 (EC: ISS); GO_0038033 (EC: IDA, PMID: 18440775); GO_0038091 (EC: IDA, PMID: 17470632); GO_0038190 (EC: ISS); GO_0040007 (EC: ISS); GO_0042056 (EC: IDA, PMID: 17082651); GO_0042462 (EC: ISS); GO_0042802 (EC: IPI, PMID: 12207021); GO_0042803 (EC: ISS); GO_0043066 (EC: IMP, PMID: 10066377); GO_0043117 (EC: IDA, PMID: 16109918); GO_0043129 (EC: ISS); GO_0043154 (EC: IDA, PMID: 18386220); GO_0043183 (EC: IPI, PMID: 1312256); GO_0043184 (EC: IPI, PMID: 10022831); GO_0043406 (EC: IDA, PMID: 18440775); GO_0043536 (EC: IDA, PMID: 18440775); GO_0045766 (EC: IDA, PMID: 18440775); GO_0045766 (EC: IMP, PMID: 18275976); GO_0045785 (EC: IDA, PMID: 19674970); GO_0045944 (EC: IDA, PMID: 18059339); GO_0045944 (EC: IMP, PMID: 18093989); GO_0046982 (EC: IDA, PMID: 8702615); GO_0048010 (EC: IDA); GO_0048010 (EC: TAS); GO_0048018 (EC: IPI, PMID: 17470632); GO_0048469 (EC: ISS); GO_0048593 (EC: ISS); GO_0048739 (EC: ISS); GO_0048754 (EC: ISS); GO_0048842 (EC: ISS); GO_0048844 (EC: ISS); GO_0050679 (EC: ISS); GO_0050731 (EC: IDA, PMID: 10022831); GO_0050840 (EC: IC, PMID: 14570917); GO_0050918 (EC: IDA, PMID: 19275959); GO_0050927 (EC: IDA, PMID: 12744932); GO_0050930 (EC: IDA, PMID: 19275959); GO_0050930 (EC: NAS, PMID: 12744932); GO_0051272 (EC: IDA, PMID: 10527820); GO_0051781 (EC: IEA); GO_0051894 (EC: IDA, PMID: 16489009); GO_0060319 (EC: ISS); GO_0060749 (EC: ISS); GO_0060754 (EC: IDA, PMID: 19275959); GO_0060948 (EC: ISS); GO_0060982 (EC: ISS); GO_0061418 (EC: TAS); GO_0061419 (EC: IMP, PMID: 19652095); GO_0071456 (EC: IDA, PMID: 10575000); GO_0071456 (EC: TAS); GO_0071542 (EC: ISS); GO_0071679 (EC: ISS); GO_0090037 (EC: IDA, PMID: 18059339); GO_0090050 (EC: IDA); GO_0090190 (EC: ISS); GO_0090259 (EC: ISS); GO_1900086 (EC: IDA); GO_1900745 (EC: IDA, PMID: 18386220); GO_1901727 (EC: IDA); GO_1902336 (EC: ISS); GO_1902533 (EC: IDA) PMID: 1312256; 1417831; 1550962; 1567395; 1711045; 1791831; 2479986; 2479987; 2584205; 7518352; 7525053; 7678805; 7681362; 7759509; 7829517; 7929439; 8621427; 8631822; 8641698; 8702615; 8786112; 8889548; 9012504; 9012841; 9054410; 9202027; 9207067; 9323936; 9336848; 9351807; 9393862; 9450968; 9529250; 9634701; 9674707; 9684805; 9716565; 9792673; 9878851; 9922142; 10022831; 10066377; 10067980; 10196157; 10409677; 10464055; 10471394; 10527820; 10543948; 10575000; 10585578; 10626738; 10748121; 10873597; 11016853; 11032698; 11069235; 11115828; 11122379; 11133233; 11146397; 11196464; 11352659; 11427521; 11461089; 11563986; 11642726; 11686329; 11705851; 11705867; 11731620; 11741977; 11742492; 11744618; 11748975; 11751905; 11783119; 11784713; 11784722; 11796824; 11806247; 11809675; 11809713; 11815711; 11819817; 11824377; 11831981; 11832343; 11834731; 11836562; 11839635; 11847008; 11866530; 11866538; 11867956; 11875709; 11877311; 11877669; 11882460; 11891801; 11908876; 11912213; 11912219; 11920479; 11921018; 11930687; 11930688; 11940485; 11956584; 11956638; 11957147; 11959648; 11960372; 11961297; 11961303; 11964077; 11964307; 11972026; 11978184; 11978667; 11980898; 11986311; 11986954; 11999550; 12012273; 12014632; 12016145; 12023772; 12038454; 12039075; 12042276; 12058259; 12062186; 12067896; 12067976; 12085210; 12086892; 12089333; 12102661; 12105188; 12114504; 12117969; 12119553; 12124351; 12127077; 12133473; 12133520; 12133521; 12141529; 12149254; 12151344; 12151391; 12163680; 12168088; 12168808; 12168898; 12174362; 12174901; 12187074; 12197476; 12207021; 12208766; 12209585; 12209725; 12213806; 12213874; 12213878; 12215337; 12232762; 12235106; 12239588; 12358602; 12391145; 12391545; 12393542; 12400015; 12406876; 12407018; 12413884; 12425822; 12427739; 12427750; 12428103; 12429966; 12430738; 12439912; 12445161; 12446667; 12451991; 12452000; 12453880; 12453985; 12456629; 12474525; 12477932; 12481883; 12482858; 12482957; 12493399; 12496364; 12499259; 12505748; 12509426; 12509854; 12517803; 12545153; 12546587; 12548213; 12551914; 12553038; 12558813; 12563064; 12568850; 12574959; 12579315; 12581744; 12590639; 12591230; 12591731; 12593846; 12594002; 12594815; 12597245; 12604407; 12607595; 12607599; 12615701; 12629515; 12631341; 12637571; 12646239; 12651930; 12654193; 12654197; 12660426; 12666706; 12667326; 12668280; 12668286; 12670505; 12684660; 12684689; 12687277; 12696078; 12700666; 12708473; 12710853; 12711260; 12714610; 12716475; 12716911; 12719950; 12727858; 12740269; 12742981; 12744932; 12756808; 12763746; 12767510; 12788875; 12796773; 12800229; 12810642; 12810677; 12810700; 12827055; 12839933; 12844492; 12845559; 12845630; 12845639; 12847526; 12850503; 12855698; 12860293; 12865814; 12871382; 12871881; 12883661; 12883688; 12883692; 12888890; 12890905; 12893367; 12901801; 12918061; 12926153; 12937141; 12949011; 12957716; 14500349; 14507446; 14507641; 14512169; 14512791; 14513045; 14513053; 14514674; 14530810; 14532971; 14555767; 14559444; 14570917; 14572781; 14574404; 14585871; 14593238; 14600159; 14602779; 14604996; 14607580; 14607712; 14609725; 14610338; 14633511; 14633819; 14634801; 14644752; 14644771; 14647449; 14648803; 14654077; 14655184; 14656735; 14656883; 14659975; 14660505; 14667896; 14669345; 14670179; 14672622; 14674128; 14675094; 14676217; 14676843; 14681237; 14691147; 14694016; 14699103; 14702039; 14704231; 14708636; 14712484; 14714296; 14715242; 14719060; 14719080; 14726393; 14728692; 14729621; 14729679; 14735189; 14741347; 14747470; 14747750; 14749705; 14753452; 14759416; 14762365; 14764537; 14764596; 14767538; 14767569; 14871830; 14959852; 14962110; 14977835; 14981918; 14983012; 14988276; 14997002; 15001987; 15009103; 15014023; 15015550; 15015562; 15040022; 15047611; 15050452; 15051508; 15052220; 15059159; 15063730; 15067085; 15073116; 15081313; 15086939; 15090854; 15093699; 15112337; 15117722; 15118294; 15120936; 15122338; 15126502; 15126581; 15127326; 15135240; 15135259; 15140509; 15140761; 15146197; 15149853; 15153787; 15160911; 15161630; 15161709; 15161830; 15168728; 15173661; 15175342; 15180964; 15184633; 15188178; 15191350; 15191555; 15201500; 15213335; 15217829; 15217947; 15217952; 15239258; 15244100; 15246970; 15247002; 15254682; 15254962; 15256791; 15263820; 15265021; 15273288; 15274325; 15283056; 15284224; 15292252; 15298982; 15302276; 15309707; 15329326; 15331549; 15334691; 15338501; 15339792; 15340161; 15342781; 15345585; 15347673; 15347840; 15351862; 15351965; 15358155; 15374700; 15374715; 15374730; 15375582; 15388333; 15453096; 15453394; 15453815; 15457582; 15458440; 15458509; 15470196; 15474072; 15474081; 15474452; 15475194; 15477409; 15477421; 15489334; 15492846; 15492987; 15494412; 15500293; 15503824; 15503825; 15515423; 15515495; 15516835; 15522212; 15532726; 15540202; 15541813; 15542434; 15548611; 15556999; 15562207; 15568021; 15569051; 15569052; 15580293; 15583754; 15583822; 15583829; 15588162; 15607642; 15609122; 15609132; 15610240; 15610528; 15613104; 15614129; 15621731; 15629128; 15631865; 15633213; 15635051; 15638384; 15640157; 15646833; 15649874; 15653207; 15661835; 15661856; 15664512; 15665295; 15667531; 15667866; 15668894; 15669079; 15671530; 15674338; 15674425; 15682485; 15701844; 15704107; 15705187; 15705790; 15708566; 15714497; 15726914; 15731179; 15732116; 15733833; 15735682; 15741444; 15742396; 15745839; 15746194; 15754021; 15754412; 15756443; 15763997; 15767331; 15770733; 15776280; 15777969; 15788677; 15788755; 15809749; 15820807; 15826815; 15838334; 15838884; 15845615; 15847702; 15864753; 15871723; 15878754; 15880052; 15880074; 15880336; 15886312; 15892598; 15896327; 15897560; 15897913; 15905202; 15916974; 15917409; 15920019; 15935515; 15937083; 15940042; 15945504; 15949234; 15951295; 15956982; 15958542; 15963467; 15970595; 15973775; 15979997; 15996656; 16002046; 16005848; 16007189; 16014410; 16019439; 16024519; 16026585; 16036113; 16046504; 16049137; 16049374; 16054650; 16084492; 16086118; 16088182; 16095053; 16109918; 16116481; 16124648; 16130099; 16132039; 16142870; 16152587; 16154235; 16163059; 16166239; 16169405; 16170370; 16170373; 16171822; 16176284; 16179809; 16184401; 16186493; 16198352; 16202150; 16202216; 16216669; 16222693; 16226108; 16229182; 16239224; 16239639; 16243805; 16254334; 16260429; 16263579; 16269156; 16271941; 16278385; 16283008; 16299233; 16301496; 16301860; 16318581; 16320826; 16322068; 16328781; 16339827; 16343055; 16344560; 16357200; 16359995; 16375117; 16375118; 16384981; 16385345; 16386649; 16388189; 16388758; 16395752; 16396768; 16398404; 16403913; 16409998; 16410078; 16410746; 16412381; 16421229; 16423422; 16432214; 16434047; 16441660; 16456664; 16461129; 16465407; 16467091; 16482425; 16482999; 16484238; 16488441; 16489009; 16489641; 16490744; 16496302; 16499871; 16507781; 16508738; 16513643; 16514669; 16515588; 16516166; 16516857; 16517614; 16521228; 16526314; 16528367; 16530326; 16538528; 16543242; 16543245; 16543500; 16545694; 16569480; 16569553; 16570043; 16581961; 16583410; 16585124; 16596190; 16601840; 16608813; 16611402; 16612574; 16613616; 16616080; 16620970; 16627366; 16630077; 16636650; 16638750; 16643910; 16645174; 16645995; 16647384; 16648151; 16650817; 16675573; 16682007; 16684540; 16685110; 16702519; 16702604; 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22901561; 22906062; 22915033; 22915086; 22925497; 22926658; 22927437; 22930318; 22931643; 22935455; 22942646; 22944463; 22948895; 22951014; 22956610; 22957090; 22961433; 22962287; 22963269; 22965144; 22992725; 22993129; 22993299; 22994042; 22994764; 23005896; 23015149; 23020605; 23025904; 23029477; 23038639; 23039092; 23040494; 23053181; 23058011; 23059773; 23060442; 23061744; 23062326; 23062640; 23064377; 23065156; 23065202; 23065534; 23068100; 23073296; 23077562; 23086295; 23086340; 23086933; 23093658; 23094709; 23098361; 23098453; 23102786; 23104639; 23104894; 23108136; 23114032; 23117246; 23118492; 23128854; 23129289; 23137522; 23145112; 23151382; 23155231; 23155236; 23155356; 23160675; 23161411; 23166713; 23167810; 23168996; 23169005; 23169435; 23172303; 23176363; 23177780; 23181555; 23182805; 23192572; 23201159; 23204297; 23206462; 23211130; 23212515; 23213275; 23217559; 23220088; 23221067; 23222716; 23224211; 23225320; 23227881; 23232696; 23236677; 23236888; 23239744; 23243026; 23250775; 23254909; 23254958; 23257745; 23263486; 23264084; 23264219; 23265127; 23269488; 23269798; 23272057; 23272609; 23279742; 23280079; 23285958; 23288726; 23290762; 23293030; 23293323; 23295255; 23302311; 23313225; 23315815; 23317892; 23321169; 23321170; 23326384; 23326500; 23328414; 23329570; 23332132; 23332617; 23334331; 23335070; 23335846; 23339636; 23340303; 23346798; 23350126; 23350655; 23352645; 23353010; 23359195; 23364276; 23367565; 23369005; 23370341; 23374220; 23374253; 23383089; 23384557; 23390884; 23398358; 23401860; 23403511; 23404377; 23405237; 23408906; 23413901; 23421785; 23421942; 23428182; 23429328; 23429999; 23430447; 23435217; 23444216; 23449351; 23454149; 23454747; 23455636; 23459872; 23462604; 23465821; 23467576; 23470436; 23475388; 23481572; 23485997; 23499421; 23511629; 23522390; 23542734; 23545315; 23548900; 23552871; 23553563; 23554900; 23555666; 23559636; 23569009; 23572336; 23586368; 23588859; 23589053; 23592000; 23599627; 23602531; 23605255; 23608225; 23613250; 23613251; 23613412; 23618468; 23620752; 23625573; 23639731; 23644986; 23648010; 23649946; 23650550; 23651239; 23656623; 23661335; 23667446; 23673188; 23679262; 23679318; 23687977; 23688054; 23690937; 23695013; 23698113; 23699597; 23711375; 23714383; 23719599; 23722461; 23725153; 23725155; 23728502; 23737289; 23737650; 23745581; 23748230; 23749886; 23754270; 23754948; 23756256; 23759331; 23761723; 23765166; 23767832; 23780896; 23790363; 23794239; 23831623; 23831629; 23838139; 23838428; 23840094; 23848209; 23851330; 23860526; 23861821; 23867510; 23870474; 23877020; 23884416; 23884772; 23884891; 23886195; 23886210; 23904001; 23906304; 23907576; 23913375; 23922493; 23926105; 23929745; 23933698; 23950980; 23953100; 23953866; 23976881; 23982876; 23992143; 23998120; 24005038; 24016866; 24021340; 24021586; 24024441; 24043765; 24048796; 24052076; 24067461; 24120473; 24123039; 24222145; 24225154; 24254563; 24263190; 24274376; 24284961; 24321896; 24341227; 24400721; 24403492; 24510998; 24511001 vascular endothelial growth factor A Ensembl:ENSG00000112715 HGNC:12680 HPRD:01889 MIM:192240 Vega:OTTHUMG00000014745 Other designations: vascular permeability factor VEGFA Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene VGF VGF nerve growth factor inducible 7425 7q22.1 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0001541 (EC: IEA); GO_0002021 (EC: IEA); GO_0003674 (EC: ND); GO_0005184 (EC: IEA); GO_0005615 (EC: IDA, PMID: 15706611); GO_0006091 (EC: IEA); GO_0008083 (EC: IEA); GO_0009409 (EC: IEA); GO_0019953 (EC: IEA); GO_0030073 (EC: IEA); GO_0030133 (EC: IEA); GO_0031410 (EC: IDA, PMID: 17440014); GO_0032868 (EC: IEA); GO_0042593 (EC: IEA); GO_0042742 (EC: IEA); GO_0051591 (EC: IEP, PMID: 10381005) PMID: 8125298; 9084409; 9344675; 10381005; 12477932; 15706611; 16481598; 17440014; 17684500; 18432310; 19598235; 20164831; 20471433; 20631166; 21151573; 21621608; 22808091; 24244333; 24250222; 24457600 VGF nerve growth factor inducible Other designations: neuro-endocrine specific protein VGF|neurosecretory protein VGF VGF Bin Zhao, Yue Liu, Oliver He CTRCT30 HEL113 WEB: http://www.ncbi.nlm.nih.gov/gene VIM vimentin 7431 RP11-124N14.1 10p13 20140408 9606 10 protein-coding Official from a nomenclature committee GO_0001948 (EC: IPI, PMID: 19420356); GO_0003725 (EC: IDA); GO_0005200 (EC: IDA, PMID: 11889032); GO_0005212 (EC: IEA); GO_0005515 (EC: IPI, PMID: 10852826); GO_0005737 (EC: IDA, PMID: 9150946); GO_0005777 (EC: IDA, PMID: 17881773); GO_0005829 (EC: IDA, PMID: 19270731); GO_0005829 (EC: TAS); GO_0005856 (EC: IDA, PMID: 16769727); GO_0005856 (EC: TAS, PMID: 16130169); GO_0005882 (EC: IDA, PMID: 11889032); GO_0005886 (EC: IDA, Qualifier: colocalizes_with, PMID: 19270731); GO_0006915 (EC: TAS); GO_0006921 (EC: TAS); GO_0006928 (EC: TAS, PMID: 16130169); GO_0008022 (EC: IPI, PMID: 19270731); GO_0010977 (EC: IEA); GO_0014002 (EC: IEA); GO_0016032 (EC: IEA); GO_0030049 (EC: TAS); GO_0031252 (EC: IEA); GO_0042802 (EC: IPI, PMID: 15383276); GO_0042995 (EC: IEA); GO_0045109 (EC: IEA); GO_0045111 (EC: IDA); GO_0060020 (EC: IEA); GO_0070062 (EC: IDA); GO_0070307 (EC: IEA); GO_0097110 (EC: IPI, PMID: 10852826) PMID: 1478967; 1516138; 1722806; 1726101; 1812754; 1918147; 1991513; 2059552; 2201025; 2203542; 2251132; 2323579; 2472876; 2500966; 2806127; 3027087; 3371665; 3467175; 3661560; 3792301; 7644499; 7842474; 7925640; 7983050; 8125298; 8381971; 8424456; 8523563; 8822624; 8997639; 9150946; 9175763; 9188594; 9190204; 9261168; 9565595; 10469173; 10491200; 10613270; 10625659; 10845700; 10852826; 10852918; 10887173; 11082283; 11160829; 11172097; 11243787; 11278417; 11375989; 11423904; 11441066; 11514563; 11581269; 11744725; 11802775; 11827972; 11889032; 11895474; 11911279; 12003790; 12084347; 12099690; 12169273; 12194205; 12202484; 12210485; 12226091; 12244133; 12358155; 12366696; 12429849; 12441134; 12466525; 12477932; 12483219; 12600646; 12639940; 12706117; 12727854; 12750294; 12761892; 12829607; 12906105; 14595690; 14600259; 14702039; 14760703; 14762106; 14996095; 15047060; 15161933; 15164054; 15231822; 15255035; 15324660; 15345747; 15383276; 15456890; 15489334; 15527767; 15556930; 15592455; 15604093; 15777792; 15846844; 16009940; 16130169; 16159877; 16169070; 16189514; 16226712; 16236267; 16270034; 16289162; 16298568; 16365157; 16487365; 16510139; 16565220; 16568083; 16703512; 16712842; 16769727; 16901892; 16912072; 16944923; 16964243; 17031402; 17050693; 17056548; 17081983; 17083913; 17266347; 17289402; 17361185; 17373842; 17400507; 17403663; 17476115; 17585878; 17601350; 17620599; 17652163; 17663720; 17703067; 17719575; 17881773; 17960581; 18029348; 18046501; 18155753; 18160415; 18176708; 18184460; 18219106; 18241054; 18407667; 18464297; 18632620; 18653473; 18681838; 18695932; 18723680; 18790770; 18811945; 18947333; 18977241; 18985028; 18985821; 19013628; 19117942; 19126778; 19165527; 19168853; 19252475; 19270731; 19331162; 19366731; 19386766; 19403668; 19404921; 19420356; 19422834; 19447876; 19476621; 19528485; 19596686; 19617759; 19655254; 19690979; 19695088; 19696622; 19738201; 19765186; 19776392; 19806221; 19826009; 19888472; 19915524; 19937731; 20104255; 20109457; 20121168; 20169076; 20171211; 20176112; 20350213; 20358301; 20422486; 20447406; 20468064; 20471030; 20473970; 20516061; 20585571; 20588206; 20602472; 20609218; 20618440; 20639865; 20651380; 20701774; 20729920; 20797700; 20856200; 20972266; 20975101; 21057535; 21094801; 21139048; 21145461; 21187483; 21199468; 21203488; 21217813; 21317457; 21319273; 21327330; 21346197; 21442485; 21448168; 21465480; 21491466; 21508377; 21515330; 21664858; 21699783; 21746880; 21769486; 21803052; 21803859; 21832049; 21853274; 21875946; 21890473; 21900206; 21906983; 21914078; 21963094; 21987572; 21988832; 22022619; 22053931; 22178446; 22216242; 22221700; 22236966; 22251609; 22266860; 22268729; 22304920; 22307379; 22315367; 22340393; 22345628; 22367194; 22395512; 22407449; 22476851; 22505724; 22535769; 22584948; 22623428; 22659602; 22684479; 22704062; 22730818; 22740688; 22751105; 22759266; 22763828; 22766839; 22797925; 22863883; 22869704; 22879973; 22886823; 22929228; 22939629; 22944692; 22971934; 23000965; 23049725; 23056278; 23072594; 23084401; 23135265; 23184937; 23221510; 23224145; 23239149; 23280360; 23291835; 23292832; 23295955; 23354842; 23357686; 23383273; 23398456; 23412770; 23418544; 23418554; 23455922; 23482564; 23504025; 23562674; 23576498; 23614934; 23663103; 23674515; 23677639; 23682784; 23717685; 23751022; 23773638; 23785295; 23824807; 23824909; 23831462; 23862649; 23873106; 23885119; 23885566; 24001454; 24005669; 24061457; 24075276; 24139214; 24244333; 24457600; 24505633 vimentin Ensembl:ENSG00000026025 HGNC:12692 HPRD:01899 MIM:193060 Vega:OTTHUMG00000017744 Other designations: epididymis luminal protein 113 VIM Bin Zhao, Yue Liu, Oliver He INT1L1 IRP WEB: http://www.ncbi.nlm.nih.gov/gene WNT2 wingless-type MMTV integration site family member 2 7472 7q31.2 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0001938 (EC: IEA); GO_0002053 (EC: IEA); GO_0002088 (EC: ISS, PMID: 16258938); GO_0005109 (EC: IPI, PMID: 10557084); GO_0005125 (EC: IDA, PMID: 10557084); GO_0005515 (EC: IPI, PMID: 10347172); GO_0005576 (EC: NAS, PMID: 2971536); GO_0005576 (EC: TAS); GO_0005578 (EC: IEA); GO_0005615 (EC: IBA); GO_0005737 (EC: IDA, PMID: 19038973); GO_0005886 (EC: IDA, Qualifier: colocalizes_with, PMID: 19038973); GO_0007267 (EC: IDA, PMID: 10557084); GO_0008284 (EC: IDA, PMID: 10347172); GO_0016055 (EC: IDA, PMID: 10557084); GO_0030182 (EC: IBA); GO_0030182 (EC: ISS); GO_0030324 (EC: IEA); GO_0031012 (EC: IDA, PMID: 15507471); GO_0045165 (EC: IBA); GO_0045944 (EC: IEA); GO_0048018 (EC: IC, PMID: 17948129); GO_0048146 (EC: IMP, PMID: 19734317); GO_0051091 (EC: IDA, PMID: 10557084); GO_0055009 (EC: IEA); GO_0060045 (EC: IEA); GO_0060070 (EC: IDA, PMID: 10347172); GO_0060317 (EC: IEA); GO_0060492 (EC: IEA); GO_0060501 (EC: IEA); GO_0060716 (EC: IEA); GO_0061072 (EC: ISS, PMID: 16258938); GO_0061180 (EC: IEP, PMID: 8168088); GO_0071300 (EC: ISS); GO_0071560 (EC: IEP, PMID: 15040835); GO_0090263 (EC: IMP, PMID: 17948129) PMID: 1846319; 2971536; 8167409; 8168088; 10347172; 10557084; 11290296; 11449391; 11712082; 11840514; 12063568; 12138115; 12147710; 12477932; 12690205; 12853948; 14533014; 14702039; 15040835; 15048648; 15489334; 15507471; 15878915; 15896469; 15900580; 16132582; 16258938; 16407829; 17386109; 17534895; 17948129; 18184402; 18600204; 18703315; 18949017; 19038973; 19058789; 19239325; 19421142; 19444628; 19666519; 19734317; 19857041; 19895723; 19913121; 20492734; 20628086; 20628624; 21474991; 21575668; 21732829; 21988832; 22041457; 22489561; 22522212; 22763454; 22872573; 22949635; 23268410; 23322712; 23603171; 23694962; 23815780 wingless-type MMTV integration site family member 2 Ensembl:ENSG00000105989 HGNC:12780 HPRD:00999 MIM:147870 Vega:OTTHUMG00000023428 Other designations: Int-1-related protein|int-1-like protein 1|protein Wnt-2|secreted growth factor WNT2 Bin Zhao, Yue Liu, Oliver He AWT1 EWS-WT1 GUD NPHS4 WAGR WIT-2 WT33 WEB: http://www.ncbi.nlm.nih.gov/gene WT1 Wilms tumor 1 7490 11p13 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0000122 (EC: IDA, PMID: 7585606); GO_0001077 (EC: ISS); GO_0001570 (EC: ISS); GO_0001657 (EC: ISS); GO_0001658 (EC: IGI, PMID: 10101119); GO_0001822 (EC: IGI, PMID: 11912180); GO_0003156 (EC: ISS); GO_0003700 (EC: ISS); GO_0003700 (EC: NAS, PMID: 7862533); GO_0003723 (EC: IEA); GO_0005515 (EC: IPI, PMID: 14701728); GO_0005634 (EC: IDA); GO_0005654 (EC: IDA, PMID: 15520190); GO_0005730 (EC: IDA, Qualifier: NOT); GO_0005737 (EC: IBA); GO_0005737 (EC: IDA); GO_0005737 (EC: ISS); GO_0006309 (EC: IDA, PMID: 7588596); GO_0006355 (EC: ISS); GO_0006355 (EC: NAS, PMID: 7862533); GO_0006357 (EC: ISS); GO_0007281 (EC: ISS); GO_0007356 (EC: ISS); GO_0007507 (EC: IGI, PMID: 10101119); GO_0007530 (EC: IDA, PMID: 9815658); GO_0008270 (EC: IDA, PMID: 15518539); GO_0008285 (EC: IDA, PMID: 9553041); GO_0008380 (EC: ISS); GO_0008406 (EC: ISS); GO_0008584 (EC: IEP, PMID: 17848411); GO_0009888 (EC: ISS); GO_0016607 (EC: IDA, PMID: 15520190); GO_0017148 (EC: IDA, PMID: 7588596); GO_0030308 (EC: IDA, PMID: 7588596); GO_0030325 (EC: IGI, PMID: 10101119); GO_0030539 (EC: ISS); GO_0030855 (EC: ISS); GO_0032835 (EC: IGI, PMID: 10101119); GO_0032836 (EC: IMP, PMID: 19205749); GO_0035802 (EC: ISS); GO_0043010 (EC: ISS); GO_0043066 (EC: IGI, PMID: 10101119); GO_0043565 (EC: IDA, PMID: 1662794); GO_0044212 (EC: IDA, PMID: 1332065); GO_0045892 (EC: IDA, PMID: 12802290); GO_0045893 (EC: IDA, PMID: 12802290); GO_0045893 (EC: IDA, Qualifier: NOT, PMID: 9815658); GO_0045893 (EC: IGI, PMID: 11912180); GO_0045944 (EC: ISS); GO_0060231 (EC: ISS); GO_0060421 (EC: ISS); GO_0060539 (EC: ISS); GO_0060923 (EC: ISS); GO_0061032 (EC: IGI, PMID: 10101119); GO_0070742 (EC: IPI, PMID: 8119964); GO_0071320 (EC: IEP, PMID: 15961562); GO_0071371 (EC: IDA, PMID: 15961562); GO_0072075 (EC: ISS); GO_0072112 (EC: IBA); GO_0072112 (EC: ISS); GO_0072166 (EC: ISS); GO_0072207 (EC: IEP, PMID: 7856737); GO_0072284 (EC: IGI, PMID: 10101119); GO_0072302 (EC: ISS); GO_2000020 (EC: ISS); GO_2000195 (EC: ISS); GO_2001076 (EC: ISS) PMID: 1302008; 1313285; 1317572; 1332065; 1338906; 1572653; 1654525; 1655284; 1658787; 1662794; 1671709; 2154335; 2154702; 2173145; 6088386; 7585606; 7588596; 7720589; 7731725; 7856737; 7862533; 7862627; 7926762; 8012395; 8086342; 8098976; 8112732; 8119964; 8290269; 8295405; 8306891; 8388765; 8389468; 8393820; 8401592; 8414514; 8621495; 8798754; 8943350; 8956030; 9006935; 9108089; 9178767; 9361029; 9366517; 9475094; 9529364; 9553041; 9556563; 9765217; 9784496; 9815658; 10101119; 10490105; 10571943; 10744705; 10838070; 11001926; 11182928; 11237525; 11278547; 11595161; 11738793; 11889045; 11912180; 11919196; 11933209; 11939727; 11960373; 11986946; 12070003; 12111123; 12127961; 12133898; 12151099; 12161615; 12199781; 12200377; 12213901; 12239212; 12411326; 12444079; 12471221; 12477932; 12665546; 12681485; 12761165; 12802290; 12824878; 12824921; 12829997; 12841384; 12841869; 12901797; 12914969; 12960088; 12961083; 12970737; 14603255; 14666652; 14681303; 14701728; 14702039; 14736876; 14767530; 14962262; 14988020; 14988155; 15084838; 15150775; 15223639; 15253707; 15266301; 15286719; 15297187; 15339675; 15365188; 15483024; 15489334; 15504250; 15504938; 15506928; 15510596; 15518539; 15520190; 15534117; 15538407; 15540161; 15661271; 15674342; 15687485; 15696971; 15780077; 15838390; 15845894; 15878620; 15894924; 15927676; 15957141; 15961562; 15982325; 16087727; 16260903; 16467207; 16502587; 16518414; 16554811; 16780544; 16828156; 16857797; 16876863; 16883592; 16909243; 16920711; 16924231; 16927106; 16934801; 16966277; 16987884; 16990584; 17160023; 17205055; 17206472; 17210670; 17216259; 17371932; 17487399; 17496156; 17508006; 17524167; 17531467; 17540436; 17541636; 17551084; 17579045; 17599043; 17605875; 17630404; 17665418; 17688410; 17706117; 17716689; 17721194; 17728783; 17803653; 17848411; 17853480; 17869219; 17886559; 17912546; 17934764; 17939399; 17940140; 17947653; 17956689; 17972942; 18034345; 18042071; 18058136; 18064385; 18064689; 18065803; 18081724; 18094593; 18181329; 18202757; 18212735; 18231640; 18231915; 18255279; 18260155; 18271004; 18273617; 18292948; 18311776; 18371184; 18385267; 18424770; 18425046; 18443273; 18464243; 18466223; 18469795; 18516627; 18528287; 18559874; 18590714; 18591546; 18604725; 18618575; 18644985; 18666806; 18688870; 18703217; 18708366; 18722603; 18751389; 18752126; 18756326; 18801058; 18929401; 18950857; 18972317; 19017365; 19050011; 19067769; 19097357; 19099861; 19120973; 19137020; 19141860; 19169475; 19171881; 19190340; 19205749; 19212333; 19221039; 19236519; 19250757; 19321755; 19322206; 19351817; 19404640; 19407365; 19416806; 19437143; 19443388; 19447967; 19494353; 19536888; 19549856; 19578047; 19605546; 19615003; 19618455; 19638168; 19730683; 19747485; 19749460; 19752335; 19776535; 19811333; 19817904; 19847202; 19856421; 19951528; 20013787; 20016532; 20025481; 20038731; 20092642; 20122399; 20150449; 20204298; 20301471; 20301534; 20332316; 20368469; 20368538; 20376582; 20379614; 20412098; 20413658; 20435628; 20442368; 20442690; 20450766; 20507940; 20561402; 20591825; 20592250; 20595692; 20619105; 20619457; 20644087; 20651072; 20678218; 20736771; 20842112; 20849384; 20861915; 20871039; 20880116; 20885852; 20959405; 20971509; 20972333; 20974136; 21057459; 21097671; 21135860; 21189373; 21189390; 21209057; 21256590; 21269271; 21269566; 21344764; 21378168; 21390327; 21447831; 21499692; 21504297; 21508141; 21607557; 21643023; 21658388; 21659357; 21673345; 21697701; 21710692; 21734473; 21760594; 21798259; 21804407; 21851196; 21867623; 21888469; 21896989; 21898091; 21900206; 21909685; 21942328; 21967832; 21980157; 21985433; 21988832; 22015946; 22030397; 22040952; 22093791; 22148937; 22152856; 22172722; 22238403; 22242671; 22246978; 22261458; 22276610; 22306650; 22313360; 22382985; 22391154; 22415091; 22434317; 22506617; 22510877; 22555024; 22558480; 22585769; 22623625; 22672247; 22688351; 22796116; 22797561; 22800892; 22875062; 22876585; 22895555; 22898820; 22915059; 22925896; 22939983; 23042785; 23070125; 23110324; 23110703; 23111196; 23207289; 23298185; 23338265; 23362234; 23394625; 23403166; 23460320; 23484026; 23544132; 23550799; 23554000; 23584566; 23672350; 23699597; 23788249; 23871158; 23874238; 23898100; 23936312; 23945386; 23956224; 24161391; 24211094; 24321497; 24503796 Wilms tumor 1 Ensembl:ENSG00000184937 HGNC:12796 HPRD:06163 MIM:607102 Vega:OTTHUMG00000039556 Other designations: Wilms tumor protein|amino-terminal domain of EWS|last three zinc fingers of the DNA-binding domain of WT1 WT1 Bin Zhao, Yue Liu, Oliver He PDCN SRN1 WEB: http://www.ncbi.nlm.nih.gov/gene NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) 7827 1q25.2 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 12424224); GO_0005783 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: IEA); GO_0005911 (EC: IDA, PMID: 17675666); GO_0007588 (EC: IEA); GO_0031235 (EC: IDA, PMID: 11786407); GO_0031532 (EC: IDA, PMID: 17675666); GO_0036057 (EC: IDA, Qualifier: colocalizes_with, PMID: 11786407); GO_0043234 (EC: IDA, PMID: 17675666); GO_0045121 (EC: IDA, PMID: 17675666); GO_0070062 (EC: IDA, PMID: 19056867); GO_0072249 (EC: IEP, PMID: 11786407) PMID: 8589695; 10742096; 10802674; 11241850; 11562357; 11729243; 11733557; 11786407; 11805166; 11854170; 11908478; 12089392; 12368218; 12424224; 12464671; 12477932; 12617336; 12649741; 12687458; 12707396; 12961083; 14570703; 14675423; 14871423; 15167446; 15253708; 15322893; 15327385; 15489334; 15496146; 15659563; 15769810; 15780077; 15817495; 15942677; 15954915; 16439601; 16481888; 16572591; 16898497; 16968734; 17175312; 17211152; 17216259; 17218332; 17371932; 17393177; 17635752; 17675666; 17699384; 17899208; 17934764; 17942957; 17968527; 18000687; 18058136; 18208440; 18216321; 18334793; 18499321; 18519826; 18543005; 18726620; 18823551; 19056867; 19099831; 19145239; 19371226; 19395786; 19406966; 19520069; 19536175; 19562271; 19674119; 19913121; 20001346; 20025681; 20442690; 20457601; 20507940; 20628086; 20947785; 21125408; 21171529; 21478284; 21499232; 21655212; 22080622; 22120861; 22228437; 22321327; 22565185; 22578956; 23013956; 23242530; 23436459; 23645318; 23648087; 23800802; 23913389; 23982418 nephrosis 2, idiopathic, steroid-resistant (podocin) Ensembl:ENSG00000116218 HGNC:13394 HPRD:05303 MIM:604766 Vega:OTTHUMG00000035252 Other designations: podocin NPHS2 Bin Zhao, Yue Liu, Oliver He CD184 D2S201E FB22 HM89 HSY3RR LAP3 LCR1 LESTR NPY3R NPYR NPYRL NPYY3R WHIM WEB: http://www.ncbi.nlm.nih.gov/gene CXCR4 chemokine (C-X-C motif) receptor 4 7852 2q21 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0000187 (EC: TAS, PMID: 10570282); GO_0001569 (EC: IEA); GO_0001618 (EC: IEA); GO_0001666 (EC: IEP, PMID: 15174142); GO_0001667 (EC: IEA); GO_0001764 (EC: IEA); GO_0002407 (EC: TAS, PMID: 16621978); GO_0003779 (EC: IDA, PMID: 12421915); GO_0004930 (EC: TAS, PMID: 8276799); GO_0005515 (EC: IPI, PMID: 10644702); GO_0005737 (EC: TAS, PMID: 10415069); GO_0005764 (EC: IDA); GO_0005769 (EC: IDA); GO_0005770 (EC: IDA); GO_0005886 (EC: IDA); GO_0005886 (EC: TAS); GO_0006915 (EC: TAS, PMID: 10942389); GO_0006954 (EC: TAS, PMID: 8276799); GO_0007186 (EC: IDA, PMID: 10644702); GO_0007204 (EC: TAS, PMID: 10228019); GO_0007281 (EC: IEA); GO_0007420 (EC: IEA); GO_0008045 (EC: IEA); GO_0008354 (EC: IEA); GO_0009615 (EC: TAS, PMID: 10583963); GO_0009897 (EC: IEA); GO_0009986 (EC: IDA, PMID: 10521508); GO_0015026 (EC: TAS, PMID: 10754293); GO_0016021 (EC: IEA); GO_0016023 (EC: IDA, PMID: 19106094); GO_0016032 (EC: TAS); GO_0016494 (EC: NAS, PMID: 9468539); GO_0019722 (EC: IMP, PMID: 19064997); GO_0019955 (EC: IEA); GO_0030054 (EC: IEA); GO_0030260 (EC: TAS); GO_0030334 (EC: IEA); GO_0030426 (EC: IEA); GO_0031252 (EC: IDA, PMID: 12421915); GO_0031410 (EC: IDA, PMID: 10521508); GO_0031625 (EC: IPI, PMID: 19116316); GO_0032027 (EC: IDA, PMID: 12421915); GO_0042098 (EC: IEA); GO_0042119 (EC: IEA); GO_0043130 (EC: IDA); GO_0043217 (EC: ISS); GO_0048714 (EC: ISS); GO_0050920 (EC: IMP, PMID: 19106094); GO_0061351 (EC: IEA); GO_0070062 (EC: IDA); GO_0070098 (EC: NAS, PMID: 9468539); GO_0071345 (EC: IDA) PMID: 1187744; 2834384; 7505609; 7592830; 8234909; 8276799; 8325644; 8329116; 8629022; 8640552; 8674119; 8752280; 8752281; 8805353; 8849450; 8898753; 8929542; 8976200; 8995603; 9020356; 9024623; 9031325; 9151868; 9184207; 9261451; 9300725; 9302439; 9359702; 9362541; 9379028; 9461627; 9468539; 9499113; 9499115; 9599023; 9600268; 9601645; 9614108; 9632631; 9634237; 9634238; 9653051; 9653130; 9658081; 9696823; 9710449; 9721247; 9736741; 9744279; 9765440; 9770524; 9780207; 9826718; 9879064; 9882290; 9933168; 9973525; 10029247; 10074122; 10089882; 10228019; 10229873; 10233851; 10329539; 10339592; 10357469; 10358157; 10364484; 10370370; 10371171; 10393923; 10393974; 10415069; 10430052; 10438703; 10438870; 10446313; 10449282; 10452968; 10480633; 10482576; 10487781; 10505675; 10506573; 10521508; 10544150; 10555208; 10559349; 10570282; 10582593; 10583963; 10585143; 10590105; 10590121; 10600606; 10602722; 10623764; 10644702; 10651866; 10669334; 10704341; 10738970; 10754293; 10756055; 10758170; 10772939; 10801487; 10802710; 10816381; 10825158; 10860877; 10864687; 10875613; 10877489; 10903911; 10903920; 10941932; 10942389; 11005830; 11024154; 11027346; 11069996; 11086073; 11115360; 11118068; 11119612; 11141237; 11153675; 11157475; 11162626; 11162839; 11175286; 11264367; 11265761; 11278278; 11278567; 11313374; 11333905; 11342415; 11356952; 11356967; 11390582; 11390601; 11397808; 11408611; 11413305; 11414813; 11426226; 11462036; 11464139; 11468147; 11489906; 11517394; 11529558; 11533159; 11551942; 11559423; 11591141; 11591370; 11595336; 11602639; 11602715; 11641392; 11668182; 11679153; 11689632; 11693435; 11698270; 11709091; 11711593; 11711617; 11751889; 11752220; 11799176; 11861874; 11867624; 11876757; 11877445; 11878912; 11880384; 11912162; 11920324; 11929756; 11931835; 11937572; 11953881; 11983855; 11994484; 11994538; 12004084; 12034737; 12091904; 12093918; 12163560; 12171912; 12193696; 12208881; 12218052; 12239139; 12239174; 12351385; 12354773; 12355376; 12356205; 12368305; 12368322; 12370187; 12388552; 12393569; 12393663; 12421915; 12429730; 12433920; 12477874; 12477932; 12485835; 12488503; 12490404; 12499259; 12502809; 12519755; 12519884; 12531874; 12551992; 12555203; 12555204; 12586555; 12605695; 12609846; 12634405; 12651900; 12690099; 12692554; 12705474; 12713058; 12726730; 12730102; 12761880; 12766157; 12775414; 12783211; 12791666; 12832058; 12834106; 12843275; 12853157; 12857973; 12871111; 12873764; 12873765; 12882655; 12882661; 12894851; 12927045; 12960231; 12963807; 13679920; 14505910; 14555820; 14567988; 14576059; 14592831; 14595012; 14597738; 14602072; 14630801; 14640682; 14672331; 14684377; 14688392; 14694113; 14715575; 14764445; 14973260; 14982745; 14988150; 14990703; 14990729; 14995074; 15019705; 15026622; 15033669; 15033938; 15047829; 15048928; 15054042; 15113900; 15117454; 15123627; 15128813; 15161081; 15169555; 15174142; 15180966; 15183061; 15184910; 15201990; 15225616; 15235108; 15251986; 15258189; 15279544; 15308751; 15327899; 15328152; 15328206; 15351504; 15358596; 15363550; 15377464; 15452229; 15454484; 15467730; 15479838; 15486895; 15489334; 15492752; 15509740; 15536192; 15540205; 15542430; 15548713; 15548717; 15549771; 15585097; 15585836; 15588345; 15598422; 15608062; 15615703; 15618472; 15632118; 15650174; 15660419; 15662133; 15670831; 15681827; 15687242; 15701832; 15705741; 15710459; 15719026; 15737629; 15748209; 15753377; 15781337; 15784966; 15787642; 15794931; 15802268; 15805285; 15806155; 15814634; 15819887; 15831676; 15843590; 15844659; 15857508; 15867478; 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17457084; 17459055; 17461449; 17476338; 17488655; 17504381; 17507467; 17507486; 17510563; 17521613; 17545018; 17559806; 17562613; 17574038; 17582634; 17594938; 17596666; 17606439; 17620369; 17634424; 17640743; 17641542; 17650669; 17676665; 17687643; 17706641; 17715128; 17715399; 17763975; 17765649; 17768666; 17846797; 17875700; 17881971; 17888880; 17889832; 17893878; 17894415; 17895991; 17916907; 17925864; 17947233; 17947541; 17959679; 17964871; 17977968; 17991743; 18036244; 18037996; 18040858; 18081034; 18083706; 18087217; 18089812; 18097955; 18155192; 18175225; 18182005; 18187620; 18190699; 18200497; 18201276; 18206727; 18210030; 18219852; 18234887; 18235009; 18239145; 18240029; 18242797; 18267010; 18274673; 18281050; 18286257; 18288973; 18292939; 18334485; 18337451; 18339860; 18339870; 18353956; 18357387; 18365549; 18373506; 18416455; 18431597; 18438604; 18443596; 18448868; 18461161; 18468560; 18480460; 18487224; 18500445; 18502034; 18511598; 18519809; 18524826; 18556411; 18562079; 18568019; 18570923; 18577758; 18593989; 18599607; 18624931; 18632580; 18634924; 18636124; 18653785; 18692524; 18696160; 18698020; 18701133; 18707241; 18753930; 18760838; 18760839; 18765807; 18769446; 18775311; 18781098; 18784079; 18788547; 18798091; 18799424; 18803056; 18807177; 18808680; 18812968; 18815295; 18820725; 18829537; 18834145; 18836306; 18851783; 18923649; 18925934; 18948617; 18949410; 18954561; 18957686; 18958626; 18976975; 18977142; 18991615; 19002187; 19008040; 19017998; 19019622; 19020538; 19020745; 19025611; 19035451; 19042019; 19053768; 19057930; 19064997; 19066282; 19074885; 19082444; 19106094; 19107931; 19113880; 19115008; 19116316; 19125297; 19134328; 19136936; 19139298; 19147814; 19148483; 19149577; 19178925; 19196101; 19199057; 19200444; 19212630; 19228923; 19232661; 19240061; 19252530; 19260802; 19272813; 19297481; 19302975; 19305148; 19327121; 19335218; 19336475; 19336886; 19339951; 19339953; 19340288; 19351212; 19352387; 19366992; 19373784; 19379572; 19379577; 19379578; 19391039; 19414793; 19433312; 19438749; 19449444; 19460858; 19472013; 19473177; 19476565; 19492159; 19494283; 19496172; 19497995; 19513547; 19513623; 19520808; 19521120; 19523923; 19525448; 19525953; 19526283; 19540208; 19550128; 19551455; 19563077; 19567784; 19568410; 19570110; 19580679; 19584257; 19588204; 19593633; 19605489; 19615218; 19615279; 19654311; 19665027; 19671192; 19688824; 19692474; 19703720; 19716197; 19730683; 19731977; 19735481; 19761697; 19762327; 19765831; 19769961; 19774645; 19784070; 19796655; 19812192; 19812382; 19816083; 19816596; 19820417; 19825996; 19830694; 19837984; 19859817; 19879194; 19885584; 19906780; 19912363; 19913121; 19921580; 19923906; 19932585; 19950235; 19956569; 20007689; 20018238; 20023696; 20025867; 20028517; 20035824; 20036848; 20048153; 20051874; 20053635; 20067991; 20068066; 20071457; 20084476; 20102637; 20109310; 20118565; 20133817; 20134207; 20141446; 20154716; 20159979; 20177796; 20196768; 20206813; 20228059; 20338046; 20349215; 20380698; 20386750; 20388788; 20388803; 20421499; 20439195; 20450430; 20460402; 20462600; 20465832; 20484957; 20492653; 20502526; 20505072; 20525755; 20540706; 20561415; 20563655; 20568229; 20573729; 20573813; 20578990; 20580677; 20585037; 20594270; 20594957; 20598333; 20599766; 20603605; 20607251; 20616219; 20622011; 20628086; 20629312; 20629629; 20637871; 20646340; 20646838; 20651371; 20660740; 20661303; 20661426; 20699000; 20705717; 20708218; 20710056; 20722038; 20723431; 20728717; 20801883; 20802527; 20829512; 20842205; 20847314; 20859707; 20861157; 20861743; 20865359; 20876529; 20921899; 20923564; 20929726; 20953377; 20956518; 20972812; 21048156; 21052687; 21059341; 21070597; 21071054; 21076047; 21080209; 21082982; 21087342; 21087446; 21093051; 21110890; 21127401; 21138752; 21139054; 21152581; 21156016; 21158728; 21178277; 21186999; 21188555; 21205837; 21238532; 21264298; 21292343; 21295814; 21300944; 21304904; 21312239; 21321123; 21349176; 21349998; 21350711; 21357602; 21381021; 21402361; 21435112; 21447649; 21454012; 21459858; 21463876; 21468602; 21506920; 21513481; 21518481; 21521526; 21525208; 21527066; 21530075; 21537329; 21553525; 21555814; 21567400; 21569409; 21573951; 21607621; 21607655; 21618080; 21623238; 21623830; 21624427; 21627959; 21630055; 21631268; 21633638; 21655198; 21655330; 21656184; 21668366; 21670103; 21676905; 21680174; 21695171; 21705626; 21720384; 21723943; 21728385; 21730065; 21731496; 21738044; 21740294; 21757744; 21760891; 21802105; 21802140; 21818756; 21831961; 21835796; 21878648; 21887463; 21890473; 21906588; 21906874; 21909080; 21909361; 21931863; 21934106; 21948620; 21951552; 21963094; 21969820; 21985848; 21986127; 21987572; 21988832; 22018245; 22023092; 22025564; 22039044; 22052462; 22074556; 22075627; 22084248; 22101518; 22103833; 22103834; 22114110; 22133596; 22152016; 22157596; 22169254; 22169298; 22175768; 22200669; 22220212; 22220905; 22226668; 22232208; 22238325; 22242160; 22245379; 22253872; 22266857; 22266861; 22275353; 22292949; 22297516; 22299827; 22313935; 22333149; 22342838; 22359577; 22362916; 22366438; 22370645; 22370717; 22377565; 22427920; 22427929; 22430135; 22450749; 22463589; 22471472; 22472349; 22479424; 22490156; 22495096; 22496149; 22496601; 22505724; 22526457; 22532631; 22537596; 22541097; 22547906; 22549810; 22554649; 22568557; 22582975; 22596258; 22634622; 22644306; 22645275; 22657741; 22683307; 22688512; 22689289; 22699677; 22706111; 22727731; 22728273; 22732432; 22745793; 22767589; 22779681; 22784557; 22802411; 22808111; 22830600; 22847686; 22848341; 22852142; 22871210; 22885527; 22902648; 22908191; 22914607; 22916293; 22923991; 22925564; 22932666; 22936065; 22941282; 22952422; 22954962; 22987307; 22995914; 23023480; 23039915; 23046610; 23053994; 23075330; 23082154; 23133664; 23148226; 23160836; 23177198; 23197643; 23216236; 23219524; 23223005; 23223950; 23231927; 23244336; 23259294; 23263827; 23279723; 23288365; 23321466; 23326587; 23331013; 23344887; 23349771; 23395387; 23421710; 23434321; 23443279; 23468933; 23469143; 23472069; 23472074; 23490053; 23495012; 23497290; 23497377; 23526079; 23528817; 23544621; 23555768; 23563306; 23565284; 23591873; 23609324; 23623275; 23647548; 23659571; 23669361; 23676502; 23688427; 23697661; 23702796; 23710557; 23714687; 23726130; 23728080; 23734232; 23744460; 23744532; 23754844; 23758411; 23765204; 23769877; 23773022; 23777983; 23794067; 23798675; 23802178; 23827153; 23845465; 23849988; 23856897; 23865743; 23886194; 23895705; 23911867; 23918302; 23924922; 23925152; 23935395; 23936528; 23954894; 23966000; 24005135; 24023356; 24032722; 24052640; 24091662; 24101523; 24157575; 24174685; 24184476; 24239175; 24489825 chemokine (C-X-C motif) receptor 4 Ensembl:ENSG00000121966 HGNC:2561 HPRD:01217 MIM:162643 Vega:OTTHUMG00000153583 Other designations: C-X-C chemokine receptor type 4|CD184 antigen|SDF-1 receptor|fusin|leukocyte-derived seven transmembrane domain receptor|lipopolysaccharide-associated protein 3|neuropeptide Y receptor Y3|seven transmembrane helix receptor|seven-transmembrane-segment receptor, spleen|stromal cell-derived factor 1 receptor CXCR4 Bin Zhao, Yue Liu, Oliver He PP5 REF1 TFPI-2 WEB: http://www.ncbi.nlm.nih.gov/gene TFPI2 tissue factor pathway inhibitor 2 7980 7q22 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0004867 (EC: IEA); GO_0005201 (EC: TAS, PMID: 8914837); GO_0005578 (EC: TAS, PMID: 8914837); GO_0005634 (EC: IDA); GO_0007596 (EC: IEA) PMID: 3276312; 6884838; 7896752; 8159751; 8555184; 8661135; 8914837; 8945635; 9445254; 9548189; 10026147; 10496984; 11342222; 11834519; 11840337; 11945080; 12477932; 12606321; 12632077; 12690205; 12738994; 12757776; 12787920; 12853948; 12876637; 12881707; 12921785; 14525759; 14558946; 14623891; 14678821; 14702039; 14970225; 14983234; 15183047; 15221977; 15231748; 15467913; 15489334; 15592528; 15685245; 15932872; 16247609; 16303743; 16344560; 16580726; 16641089; 16965396; 17023682; 17138934; 17208328; 17352822; 17372906; 17464989; 17558445; 18053161; 18097563; 18401718; 18480470; 18810851; 19081094; 19102937; 19103149; 19212621; 19288010; 19435926; 19460752; 19571260; 19763915; 19902129; 19936309; 20015200; 20018303; 20113832; 20335518; 20347477; 20377370; 20530429; 20537494; 21036731; 21062455; 21224345; 21515313; 21530612; 21621497; 21820798; 21983100; 21984372; 22052167; 22110206; 22203034; 22208663; 22232300; 22399594; 22449186; 22866126; 23032906; 23108564; 23300768; 23497249 tissue factor pathway inhibitor 2 Ensembl:ENSG00000105825 HGNC:11761 HPRD:08962 MIM:600033 Vega:OTTHUMG00000022963 Other designations: placental protein 5|retinal pigment epithelium cell factor 1 TFPI2 Bin Zhao, Yue Liu, Oliver He IFCR MGA1 gp280 WEB: http://www.ncbi.nlm.nih.gov/gene CUBN cubilin (intrinsic factor-cobalamin receptor) 8029 RP11-416D8.1 10p12.31 20140408 9606 10 protein-coding Official from a nomenclature committee GO_0001894 (EC: NAS, PMID: 11994745); GO_0004872 (EC: TAS, PMID: 10080186); GO_0005215 (EC: TAS, PMID: 9478979); GO_0005509 (EC: IEA); GO_0005515 (EC: IPI, PMID: 14576052); GO_0005765 (EC: IEA); GO_0005783 (EC: IEA); GO_0005794 (EC: IEA); GO_0005829 (EC: TAS); GO_0005886 (EC: TAS); GO_0005905 (EC: IEA); GO_0006766 (EC: TAS); GO_0006767 (EC: TAS); GO_0006898 (EC: NAS, PMID: 11994745); GO_0008202 (EC: TAS); GO_0008203 (EC: IEA); GO_0009235 (EC: TAS); GO_0010008 (EC: TAS); GO_0015889 (EC: TAS, PMID: 10080186); GO_0016020 (EC: TAS, PMID: 9478979); GO_0016324 (EC: IDA, PMID: 14576052); GO_0030139 (EC: IDA, PMID: 14576052); GO_0031232 (EC: NAS, PMID: 11994745); GO_0031419 (EC: IEA); GO_0031526 (EC: NAS, PMID: 11994745); GO_0042157 (EC: TAS); GO_0042359 (EC: TAS); GO_0042803 (EC: IDA, PMID: 10552972); GO_0042953 (EC: IEA); GO_0043202 (EC: TAS); GO_0044281 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 8510165; 9334227; 9478979; 9572993; 9691015; 10037728; 10080186; 10371504; 10552972; 10811843; 10887099; 11278724; 11595644; 11606717; 11717447; 11788601; 11856751; 11994745; 12687456; 14576052; 15164054; 15342556; 15583024; 15616221; 15736970; 15951480; 16303743; 16385451; 17124247; 17487979; 17979745; 18448595; 18791690; 19056867; 19161160; 19197348; 19303062; 19366958; 19710015; 19744961; 19878569; 19913121; 20237569; 20379614; 20398757; 20615890; 20628086; 20852008; 20855565; 21116278; 21355061; 21595846; 21750092; 21781439; 21903995; 22337902; 22437417; 22574174; 22761678; 22929189; 22990118; 23114252; 23824729 cubilin (intrinsic factor-cobalamin receptor) Ensembl:ENSG00000107611 HGNC:2548 HPRD:04296 MIM:602997 Vega:OTTHUMG00000017741 Other designations: 460 kDa receptor|cubilin|cubilin precursor variant 1|cubilin precursor variant 2|intestinal intrinsic factor receptor|intrinsic factor-vitamin B12 receptor CUBN Bin Zhao, Yue Liu, Oliver He ADHR FGFN HPDR2 HYPF PHPTC WEB: http://www.ncbi.nlm.nih.gov/gene FGF23 fibroblast growth factor 23 8074 UNQ3027/PRO9828 12p13.3 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0005105 (EC: IEA); GO_0005576 (EC: TAS); GO_0005615 (EC: IDA, PMID: 16638743); GO_0005615 (EC: ISS); GO_0006796 (EC: IEA); GO_0007173 (EC: TAS); GO_0008083 (EC: IEA); GO_0008286 (EC: TAS); GO_0008543 (EC: TAS); GO_0010966 (EC: IDA, PMID: 11409890); GO_0010980 (EC: IDA, PMID: 15040831); GO_0030154 (EC: IEA); GO_0030502 (EC: IDA, PMID: 18282132); GO_0030643 (EC: IEA); GO_0038095 (EC: TAS); GO_0042369 (EC: IDA, PMID: 15040831); GO_0045087 (EC: TAS); GO_0045668 (EC: IDA, PMID: 18282132); GO_0045893 (EC: IEA); GO_0046888 (EC: ISS); GO_0048011 (EC: TAS); GO_0048015 (EC: TAS); GO_0055062 (EC: IMP, PMID: 11062477); GO_0070374 (EC: IEA); GO_0090080 (EC: IEA) PMID: 11032749; 11062477; 11157998; 11344269; 11409890; 11737582; 11805436; 12032146; 12032180; 12130585; 12419819; 12477932; 12519781; 12590648; 12678920; 12791601; 12851820; 12854832; 12874285; 12975309; 14633152; 14988389; 15040831; 15199049; 15248822; 15264182; 15268897; 15284207; 15340161; 15489334; 15590700; 15613425; 15749088; 15930999; 15961556; 16033853; 16055933; 16081635; 16234967; 16337659; 16352682; 16381997; 16597617; 16638743; 16941023; 17086194; 17129170; 17333246; 17359508; 17374707; 17464094; 17494882; 17567652; 17699549; 17761032; 17968495; 17982392; 18166826; 18214537; 18234575; 18282132; 18310961; 18346951; 18591743; 18660670; 18660671; 18678710; 18682534; 18829467; 18972258; 19019915; 19050056; 19148564; 19181315; 19188744; 19214027; 19215029; 19329831; 19357251; 19366850; 19395730; 19411468; 19414634; 19453261; 19480830; 19515808; 19524924; 19609206; 19655082; 19679205; 19684183; 19712854; 19776202; 19797911; 19837926; 19844248; 19929273; 19946326; 19965540; 19966287; 20037176; 20150940; 20157196; 20176609; 20180772; 20196777; 20357029; 20368304; 20379614; 20394945; 20448073; 20479029; 20525976; 20529556; 20546343; 20558539; 20571400; 20576822; 20583336; 20613714; 20634326; 20641162; 20685863; 20707671; 20717920; 20813767; 20837471; 20838781; 20943782; 20944552; 20946192; 20955275; 20966122; 20966399; 21030580; 21041973; 21048031; 21050253; 21135546; 21139318; 21303965; 21335460; 21389978; 21390563; 21406293; 21436289; 21472778; 21479768; 21502756; 21597229; 21673295; 21852584; 21865755; 21873490; 21903574; 21903990; 21945708; 21984611; 21985788; 22010474; 22023931; 22034506; 22076875; 22099949; 22109743; 22121948; 22300739; 22311343; 22319041; 22360923; 22362063; 22383345; 22393163; 22396161; 22396162; 22396166; 22406119; 22419710; 22421513; 22425694; 22492635; 22530966; 22551310; 22554017; 22567137; 22573526; 22577109; 22592418; 22647968; 22689697; 22700885; 22703926; 22710695; 22742720; 22851630; 22886720; 23013306; 23085728; 23144073; 23146451; 23155694; 23180879; 23235154; 23243213; 23263487; 23324126; 23325605; 23335040; 23337450; 23339433; 23389416; 23413976; 23428834; 23471131; 23505057; 23526964; 23555610; 23581403; 23587028; 23652546; 23652554; 23740037; 23748358; 23795812; 23849306; 23858620; 24015259; 24180481; 24434381 fibroblast growth factor 23 Ensembl:ENSG00000118972 HGNC:3680 HPRD:05648 MIM:605380 Vega:OTTHUMG00000168241 Other designations: phosphatonin|tumor-derived hypophosphatemia inducing factor FGF23 Bin Zhao, Yue Liu, Oliver He HUT2 UT-A2 UT2 UTA UTR hUT-A6 WEB: http://www.ncbi.nlm.nih.gov/gene SLC14A2 solute carrier family 14 (urea transporter), member 2 8170 18q12.1-q21.1 20140408 9606 18 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 17702749); GO_0005886 (EC: TAS); GO_0015204 (EC: IEA); GO_0015840 (EC: TAS, PMID: 8647271); GO_0016020 (EC: TAS, PMID: 8647271); GO_0016021 (EC: IEA); GO_0016324 (EC: IEA); GO_0055085 (EC: TAS) PMID: 7989337; 8647271; 11399654; 11502588; 11590132; 12477932; 12952854; 15189812; 16344560; 16480766; 17264986; 17344938; 17702749; 19260141; 20139978; 20379614; 20797394; 21102462; 21909109; 22693459; 22797727 solute carrier family 14 (urea transporter), member 2 Ensembl:ENSG00000132874 HGNC:10919 HPRD:03366 MIM:601611 Vega:OTTHUMG00000132616 Other designations: solute carrier family 14 member 2|urea transporter 2|urea transporter, kidney|urea transporter-2 SLC14A2 Bin Zhao, Yue Liu, Oliver He AXIL ODCRCS WEB: http://www.ncbi.nlm.nih.gov/gene AXIN2 axin 2 8313 17q23-q24 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0001934 (EC: IMP); GO_0001957 (EC: IBA); GO_0003413 (EC: IEA); GO_0004871 (EC: IEA); GO_0005096 (EC: IBA); GO_0005515 (EC: IPI, PMID: 10698523); GO_0005634 (EC: IDA, PMID: 12072559); GO_0005737 (EC: IDA); GO_0005813 (EC: IDA); GO_0005881 (EC: IBA); GO_0005886 (EC: IBA); GO_0005938 (EC: IBA); GO_0008013 (EC: IBA); GO_0008013 (EC: NAS, PMID: 11017067); GO_0008283 (EC: IEA); GO_0008285 (EC: IMP, PMID: 16247484); GO_0009950 (EC: IBA); GO_0010718 (EC: IMP, PMID: 17072303); GO_0010942 (EC: IMP, PMID: 16247484); GO_0014069 (EC: IBA); GO_0016023 (EC: IBA); GO_0019899 (EC: IPI, PMID: 19759537); GO_0019901 (EC: IBA); GO_0030282 (EC: IEA); GO_0030877 (EC: NAS, PMID: 11017067); GO_0031625 (EC: IPI); GO_0032423 (EC: IMP, PMID: 11017067); GO_0034613 (EC: IDA, PMID: 17072303); GO_0035414 (EC: IMP, PMID: 11017067); GO_0038032 (EC: IEA); GO_0042476 (EC: IMP, PMID: 15042511); GO_0043547 (EC: IBA); GO_0043570 (EC: IMP, PMID: 18755497); GO_0045668 (EC: IBA); GO_0048255 (EC: IMP, PMID: 17072303); GO_0061181 (EC: IEA); GO_0070016 (EC: IBA); GO_0070411 (EC: IEA); GO_0070602 (EC: IMP); GO_0071407 (EC: IBA); GO_0090090 (EC: IDA, PMID: 11940574); GO_0090090 (EC: IMP, PMID: 11017067); GO_0090244 (EC: IBA) PMID: 8889548; 9566905; 10021369; 10049590; 10647780; 10698523; 10966653; 11017067; 11438668; 11474173; 11940574; 12072559; 12183362; 12477932; 15042511; 15304487; 15489334; 15611123; 15766563; 16247484; 16344560; 16432638; 16601693; 16820935; 16941501; 17002498; 17072303; 17143297; 17373666; 17927870; 18330950; 18372914; 18384130; 18676680; 18683894; 18708403; 18755497; 18790474; 19065536; 19119171; 19170196; 19270026; 19336002; 19584075; 19623616; 19625176; 19692168; 19759537; 19816326; 19888426; 20056645; 20128690; 20219685; 20300119; 20403997; 20453000; 20508983; 20613673; 20635389; 20844743; 21069480; 21294210; 21383061; 21541676; 21626677; 21666490; 21706018; 21733995; 21799911; 21890473; 22322943; 22370446; 22745173; 22887353; 23169889; 23393221; 23455922; 23516639; 23602568; 23624843 axin 2 Ensembl:ENSG00000168646 HGNC:904 HPRD:04935 MIM:604025 Vega:OTTHUMG00000179353 Other designations: axin-2|axin-like protein|axis inhibition protein 2|conductin AXIN2 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene ITGA8 integrin, alpha 8 8516 10p13 20140408 9606 10 protein-coding Official from a nomenclature committee GO_0001656 (EC: IEA); GO_0005886 (EC: TAS); GO_0007160 (EC: NAS, PMID: 7768999); GO_0007229 (EC: IEA); GO_0007420 (EC: IEA); GO_0007613 (EC: IEA); GO_0008305 (EC: TAS, PMID: 7768999); GO_0014069 (EC: IEA); GO_0016337 (EC: NAS, PMID: 7768999); GO_0030030 (EC: IEA); GO_0030198 (EC: TAS); GO_0030511 (EC: IEA); GO_0032591 (EC: IEA); GO_0034678 (EC: TAS); GO_0042472 (EC: IEA); GO_0043204 (EC: IEA); GO_0045177 (EC: IEA); GO_0045184 (EC: IEA); GO_0046872 (EC: IEA); GO_0048745 (EC: IEA); GO_2000721 (EC: IEA) PMID: 7541634; 7559467; 7768999; 9614184; 10504498; 10742111; 11470831; 11668187; 12060755; 12415008; 12787402; 15164054; 15579315; 15592496; 16385451; 18277079; 19197348; 19342381; 19527220; 19915575; 20678483; 20942236; 21906983; 23142384; 23153507; 24024966; 24439109 integrin, alpha 8 Other designations: integrin alpha-8 ITGA8 Bin Zhao, Yue Liu, Oliver He BDCA4 CD304 NP1 NRP VEGF165R WEB: http://www.ncbi.nlm.nih.gov/gene NRP1 neuropilin 1 8829 RP11-342D11.1 10p12 20140408 9606 10 protein-coding Official from a nomenclature committee GO_0001569 (EC: ISS); GO_0001764 (EC: ISS); GO_0001938 (EC: TAS); GO_0002042 (EC: ISS); GO_0002116 (EC: NAS, PMID: 19909241); GO_0005021 (EC: ISS); GO_0005021 (EC: NAS, PMID: 19909241); GO_0005515 (EC: IPI, PMID: 16763549); GO_0005576 (EC: IEA); GO_0005829 (EC: IDA); GO_0005883 (EC: IEA); GO_0005886 (EC: IDA); GO_0005886 (EC: TAS); GO_0007155 (EC: IEA); GO_0007165 (EC: TAS, PMID: 9288753); GO_0007267 (EC: TAS, PMID: 9288753); GO_0007411 (EC: NAS, PMID: 19909241); GO_0007411 (EC: TAS); GO_0007413 (EC: IEA); GO_0007507 (EC: IEA); GO_0008201 (EC: IEA); GO_0009611 (EC: IEA); GO_0009887 (EC: TAS, PMID: 9529250); GO_0009986 (EC: IEA); GO_0010595 (EC: TAS); GO_0014911 (EC: TAS); GO_0015026 (EC: TAS); GO_0016021 (EC: IEA); GO_0016358 (EC: IEA); GO_0017154 (EC: NAS, PMID: 19909241); GO_0019838 (EC: IPI, PMID: 9529250); GO_0019838 (EC: TAS); GO_0019955 (EC: NAS, PMID: 19909241); GO_0021636 (EC: IEA); GO_0021675 (EC: ISS); GO_0030424 (EC: ISS); GO_0030426 (EC: IEA); GO_0031290 (EC: ISS); GO_0031410 (EC: TAS); GO_0035729 (EC: IMP); GO_0035767 (EC: IMP); GO_0043025 (EC: IEA); GO_0043235 (EC: TAS); GO_0043524 (EC: IEA); GO_0046872 (EC: IEA); GO_0048008 (EC: IMP); GO_0048010 (EC: IMP); GO_0048010 (EC: TAS); GO_0048012 (EC: IMP); GO_0048842 (EC: ISS); GO_0048843 (EC: IEA); GO_0048846 (EC: ISS); GO_0050731 (EC: IMP); GO_0050918 (EC: ISS); GO_0060301 (EC: TAS); GO_0060385 (EC: ISS); GO_0060627 (EC: TAS); GO_0060666 (EC: IEA); GO_0061549 (EC: ISS); GO_0071526 (EC: NAS, PMID: 19909241); GO_0071679 (EC: ISS); GO_0090259 (EC: ISS); GO_0097102 (EC: ISS); GO_0097490 (EC: ISS); GO_0097491 (EC: ISS); GO_1902285 (EC: ISS); GO_1902336 (EC: ISS); GO_2001237 (EC: IEA) PMID: 9288753; 9331348; 9529250; 9856463; 9883722; 10196546; 10329017; 10409677; 10414980; 10520994; 10520995; 10688880; 10748121; 10842181; 11112349; 11166270; 11256614; 11333271; 11604131; 11807987; 11953749; 11976715; 11986311; 12216067; 12456642; 12477932; 12517344; 12577308; 12730958; 12883660; 14500350; 14514674; 14600159; 14760080; 15126502; 15160992; 15161648; 15166498; 15233640; 15239958; 15489334; 15522955; 15550623; 15613413; 15695515; 15920019; 15956974; 15978582; 16159877; 16330548; 16335952; 16344560; 16371354; 16377081; 16385451; 16423422; 16424390; 16513643; 16648151; 16763549; 16809290; 16847823; 16849452; 16990775; 17015762; 17017185; 17088944; 17222790; 17369353; 17369861; 17376520; 17575273; 17726369; 17891484; 17917967; 17974973; 18000534; 18065694; 18088455; 18164591; 18223683; 18231921; 18272814; 18284215; 18325345; 18403014; 18443354; 18628209; 18638267; 18704117; 18708346; 18785001; 18922901; 18974107; 18984674; 18996601; 19037249; 19054571; 19086053; 19270265; 19364973; 19460752; 19474288; 19480842; 19486891; 19499532; 19736548; 19805273; 19837659; 19857463; 19909241; 20026901; 20043119; 20053475; 20085644; 20201926; 20215856; 20363638; 20588308; 20631636; 20675371; 20950431; 20956519; 21063027; 21111525; 21139048; 21186301; 21245381; 21306301; 21338642; 21401950; 21525791; 21586748; 21653826; 21682944; 21852397; 21890473; 21897119; 21906983; 21939755; 21951945; 21978468; 21988832; 22025255; 22052678; 22134529; 22251373; 22318724; 22393126; 22627768; 22875653; 22885184; 23145112; 23175449; 23185562; 23222303; 23288161; 23297363; 23398358; 23447383; 23452854; 23455922; 23551578; 23585340; 23621014; 23685409; 23793025; 24079887 neuropilin 1 Ensembl:ENSG00000099250 HGNC:8004 HPRD:03642 MIM:602069 Vega:OTTHUMG00000019343 Other designations: neuropilin-1|transmembrane receptor|vascular endothelial cell growth factor 165 receptor NRP1 Bin Zhao, Yue Liu, Oliver He RALDH(II) RALDH2 RALDH2-T WEB: http://www.ncbi.nlm.nih.gov/gene ALDH1A2 aldehyde dehydrogenase 1 family, member A2 8854 15q21.3 20140408 9606 15 protein-coding Official from a nomenclature committee GO_0001568 (EC: IEA); GO_0001758 (EC: ISS); GO_0001822 (EC: IEA); GO_0001889 (EC: IEA); GO_0001936 (EC: IEA); GO_0003007 (EC: IEA); GO_0004028 (EC: ISS); GO_0005737 (EC: IDA, PMID: 18495959); GO_0005829 (EC: IEA); GO_0006776 (EC: NAS, PMID: 8663198); GO_0007494 (EC: IEA); GO_0008284 (EC: IEA); GO_0008285 (EC: IDA, PMID: 16166285); GO_0009855 (EC: IEA); GO_0009952 (EC: IEA); GO_0009954 (EC: IEA); GO_0010628 (EC: IEA); GO_0014032 (EC: IEA); GO_0016331 (EC: IEA); GO_0016918 (EC: ISS); GO_0021915 (EC: IMP, PMID: 16237707); GO_0021983 (EC: IEA); GO_0030182 (EC: IEA); GO_0030324 (EC: IEA); GO_0030902 (EC: IEA); GO_0031016 (EC: IEA); GO_0031076 (EC: IEA); GO_0032355 (EC: IEA); GO_0033189 (EC: IEA); GO_0034097 (EC: IDA, PMID: 18495959); GO_0035115 (EC: IEA); GO_0035799 (EC: IEA); GO_0042572 (EC: IEA); GO_0042573 (EC: ISS); GO_0042574 (EC: IEA); GO_0042904 (EC: IEA); GO_0043065 (EC: IEA); GO_0048384 (EC: IEA); GO_0048471 (EC: IEA); GO_0048566 (EC: IEA); GO_0048738 (EC: IEA); GO_0060324 (EC: IEA); GO_0071300 (EC: IEA) PMID: 8663198; 8797830; 9819382; 10192400; 11953746; 12477932; 14702039; 14718574; 15489334; 16166285; 16237707; 16368932; 17266347; 18029348; 18495959; 19343046; 19478994; 19609347; 19703508; 19886994; 20308937; 20375987; 20379614; 20450613; 21139048; 21890473; 22505724; 22930583; 23507523 aldehyde dehydrogenase 1 family, member A2 Ensembl:ENSG00000128918 HGNC:15472 HPRD:04733 MIM:603687 Vega:OTTHUMG00000132624 Other designations: RALDH 2|retinal dehydrogenase 2|retinaldehyde-specific dehydrogenase type 2 ALDH1A2 Bin Zhao, Yue Liu, Oliver He SEMAF semF WEB: http://www.ncbi.nlm.nih.gov/gene SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 9037 5p15.2 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0001569 (EC: IEA); GO_0001938 (EC: ISS); GO_0002043 (EC: ISS); GO_0005886 (EC: TAS); GO_0007155 (EC: TAS, PMID: 9049630); GO_0007267 (EC: TAS, PMID: 9464278); GO_0007399 (EC: TAS, PMID: 9464278); GO_0007411 (EC: TAS); GO_0008046 (EC: IEA); GO_0016020 (EC: ISS); GO_0016021 (EC: IEA); GO_0021536 (EC: ISS); GO_0030215 (EC: ISS); GO_0030836 (EC: ISS); GO_0034260 (EC: IMP); GO_0035373 (EC: ISS); GO_0035413 (EC: ISS); GO_0043395 (EC: ISS); GO_0045545 (EC: ISS); GO_0045766 (EC: ISS); GO_0048842 (EC: ISS); GO_0048843 (EC: ISS); GO_0051897 (EC: ISS); GO_0060326 (EC: ISS); GO_2000352 (EC: ISS); GO_2001028 (EC: ISS) PMID: 8817451; 8889548; 9049630; 9464278; 12477932; 14702039; 15218527; 15302935; 15372022; 15489334; 16252231; 16344560; 16481103; 17028446; 18029348; 18519826; 18628988; 18950607; 19329067; 19812673; 19913121; 19957501; 20073063; 20379614; 20628086; 20696765; 20802022; 21706053; 21890473; 22229870; 22782341; 22821546; 23251661 sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A Ensembl:ENSG00000112902 HGNC:10736 HPRD:10219 MIM:609297 Vega:OTTHUMG00000090501 Other designations: sema F|semaphorin F|semaphorin-5A|semaphorin-F SEMA5A Bin Zhao, Yue Liu, Oliver He ASE1 WEB: http://www.ncbi.nlm.nih.gov/gene PRC1 protein regulator of cytokinesis 1 9055 15q26.1 20140408 9606 15 protein-coding Official from a nomenclature committee GO_0000022 (EC: TAS, PMID: 9885575); GO_0000910 (EC: IDA, PMID: 17351640); GO_0000922 (EC: IEA); GO_0005515 (EC: IPI, PMID: 14744859); GO_0005634 (EC: IDA); GO_0005730 (EC: IDA, Qualifier: NOT); GO_0005737 (EC: IDA); GO_0005819 (EC: IDA, PMID: 17351640); GO_0005876 (EC: TAS, PMID: 9885575); GO_0005886 (EC: IDA); GO_0008017 (EC: IEA); GO_0015630 (EC: IDA); GO_0019901 (EC: IPI, PMID: 17351640); GO_0042802 (EC: IPI) PMID: 9885575; 12082078; 12477932; 12889596; 14744859; 15297875; 15489334; 15531928; 15616196; 15625105; 16189514; 16344560; 16565220; 16603632; 16964243; 17233835; 17351640; 17409436; 18029348; 18570919; 18587273; 19447967; 19468300; 19471022; 19531213; 19561070; 19609347; 19664331; 20056645; 20360068; 20379614; 20467438; 20581827; 20691902; 20889853; 20962590; 21139048; 21693658; 21906983; 21963094; 22278743; 22323288; 22419124; 22621898; 22623531; 22939629; 23349393; 23870126; 24250222 protein regulator of cytokinesis 1 Ensembl:ENSG00000198901 HGNC:9341 HPRD:17899 MIM:603484 Vega:OTTHUMG00000171685 Other designations: anaphase spindle elongation 1 homolog|protein regulating cytokinesis 1 PRC1 Bin Zhao, Yue Liu, Oliver He CLD1 ILVASC SEMP1 WEB: http://www.ncbi.nlm.nih.gov/gene CLDN1 claudin 1 9076 UNQ481/PRO944 3q28-q29 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0005198 (EC: IEA); GO_0005887 (EC: TAS, PMID: 9647647); GO_0005923 (EC: ISS); GO_0007155 (EC: TAS, PMID: 9647647); GO_0016021 (EC: TAS, PMID: 9931503); GO_0016032 (EC: IEA); GO_0016324 (EC: IEA); GO_0016328 (EC: IEA); GO_0016338 (EC: ISS); GO_0042802 (EC: ISS); GO_0045216 (EC: IMP) PMID: 9647647; 9892664; 9931503; 10562289; 10601346; 10690502; 10828592; 11071387; 11247307; 11283726; 11382769; 11689568; 11889141; 11939410; 12021270; 12067061; 12164927; 12231346; 12475568; 12477932; 12736707; 12909588; 12975309; 14515355; 15070779; 15260435; 15489334; 15521008; 15547692; 15743508; 15820559; 15965503; 16169070; 16232121; 16253248; 16344560; 16697675; 17047970; 17091452; 17283368; 17325668; 17359339; 17418912; 17440968; 17585317; 17611630; 17644758; 17784784; 17941058; 17970035; 18036336; 18095941; 18204077; 18211898; 18227718; 18234789; 18337570; 18480547; 18538010; 18550469; 18711353; 18756604; 18802961; 18817843; 18949385; 19052094; 19073886; 19077439; 19184060; 19297469; 19414319; 19540561; 19578981; 19661441; 19674288; 19706201; 19706291; 19739116; 19776133; 19881542; 19897486; 19903817; 19924644; 19962368; 20379614; 20478039; 20490282; 20546350; 20685314; 20871038; 20937153; 21107309; 21233676; 21356207; 21428935; 21480761; 21489616; 21493012; 21536752; 21551950; 21620107; 21624620; 21720707; 21757541; 21873169; 21909685; 21988832; 21997594; 22030598; 22531683; 22588068; 22641667; 22671588; 22719836; 22776839; 22889411; 22897233; 22941059; 23136956; 23137868; 23160379; 23422483; 23449973; 23498955; 23523916; 23588589; 23721519; 23775920; 23792687; 23813140; 23844228; 23898096; 23900598; 24074594; 24141423; 24265314; 24321518 claudin 1 Ensembl:ENSG00000163347 HGNC:2032 HPRD:04760 MIM:603718 Vega:OTTHUMG00000156214 Other designations: claudin-1|senescence-associated epithelial membrane protein 1 CLDN1 Bin Zhao, Yue Liu, Oliver He HsT17299 WEB: http://www.ncbi.nlm.nih.gov/gene CCNB2 cyclin B2 9133 15q22.2 20140408 9606 15 protein-coding Official from a nomenclature committee GO_0000079 (EC: IEA); GO_0000086 (EC: TAS); GO_0000278 (EC: TAS); GO_0001701 (EC: IEA); GO_0005515 (EC: IPI, PMID: 15232106); GO_0005654 (EC: TAS); GO_0005813 (EC: IDA); GO_0005829 (EC: TAS); GO_0007067 (EC: IEA); GO_0007077 (EC: TAS); GO_0015630 (EC: IDA); GO_0016020 (EC: IEA); GO_0019901 (EC: IEA); GO_0040007 (EC: IEA); GO_0043029 (EC: IEA); GO_0048538 (EC: IEA); GO_0051726 (EC: TAS) PMID: 1717476; 7474080; 7474100; 7494303; 7666531; 7737117; 8070405; 8125298; 9094673; 9356466; 9520381; 9539739; 9560267; 9926943; 10958988; 11076863; 11230166; 11256614; 11531413; 11878934; 11960377; 12477932; 12482752; 12727876; 14702039; 14718574; 15232106; 15489334; 15489336; 16381901; 17289878; 17388661; 17533373; 17549666; 18591933; 18692784; 19223528; 19454010; 19664331; 19738611; 19786724; 20360068; 20660152; 20972266; 21139048; 21161946; 21890473; 22916037; 22939629; 23282137; 23455922; 23602568 cyclin B2 Ensembl:ENSG00000157456 HGNC:1580 HPRD:04131 MIM:602755 Vega:OTTHUMG00000132715 Other designations: G2/mitotic-specific cyclin-B2 CCNB2 Bin Zhao, Yue Liu, Oliver He IL-32alpha IL-32beta IL-32delta IL-32gamma NK4 TAIF TAIFa TAIFb TAIFc TAIFd WEB: http://www.ncbi.nlm.nih.gov/gene IL32 interleukin 32 9235 16p13.3 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0005125 (EC: IEA); GO_0005515 (EC: IPI); GO_0005615 (EC: IEA); GO_0006952 (EC: TAS, PMID: 1729377); GO_0006955 (EC: IEA); GO_0007155 (EC: TAS, PMID: 1729377) PMID: 1729377; 9653642; 12477932; 15489334; 15664165; 16303761; 16341674; 16410314; 16488976; 16492735; 16903774; 17619821; 18287021; 18289868; 18296636; 18414668; 18768856; 19017495; 19228941; 19248119; 19291698; 19364659; 19386602; 19628777; 19740314; 19880327; 20112365; 20190143; 20221440; 20227751; 20237496; 20400971; 20470879; 20480520; 20541181; 20615213; 20888796; 20889550; 20926308; 20972266; 21078994; 21139048; 21152864; 21208204; 21321117; 21346229; 21383200; 21423208; 21452292; 21468596; 21469100; 21481941; 21487807; 21525393; 21551364; 21602493; 21649914; 21725974; 21899560; 22037460; 22043900; 22174851; 22198481; 22203669; 22277801; 22486709; 22505724; 22563781; 22613074; 22687868; 22927445; 23000965; 23180362; 23402302; 23479179; 23486016; 23517397; 23534905; 23567618; 23607494; 23703385; 23729669; 23814099; 24396867; 24579465 interleukin 32 Ensembl:ENSG00000008517 HGNC:16830 HPRD:09346 MIM:606001 Vega:OTTHUMG00000167498 Other designations: interleukin-32|interleukin-32 eta|interleukin-32 small|interleukin-32 theta|natural killer cell transcript 4|natural killer cells protein 4|tumor necrosis factor alpha-inducing factor IL32 Bin Zhao, Yue Liu, Oliver He C5orf13 D4S114 P311 PRO1873 PTZ17 SEZ17 WEB: http://www.ncbi.nlm.nih.gov/gene NREP neuronal regeneration related protein 9315 5q22.1 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI); GO_0005634 (EC: IEA); GO_0005737 (EC: IEA); GO_0017015 (EC: IEA); GO_0031103 (EC: IEA); GO_0045664 (EC: IEA) PMID: 8261136; 10660586; 10981724; 12417574; 12477932; 14702039; 15146197; 15485502; 15489334; 16169070; 16229809; 16344560; 16484684; 18029348; 18664493; 19322201; 19460752; 20404911; 20889312; 21029697; 21109781; 21900206; 22490543; 22967977; 23251661 neuronal regeneration related protein Ensembl:ENSG00000134986 HGNC:16834 HPRD:09545 MIM:607332 Vega:OTTHUMG00000128795 Other designations: neuronal protein 3.1|neuronal regeneration related protein homolog|neuronal regeneration-related protein|protein p311 NREP Bin Zhao, Yue Liu, Oliver He M130 MM130 WEB: http://www.ncbi.nlm.nih.gov/gene CD163 CD163 molecule 9332 12p13.3 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0005044 (EC: NAS, PMID: 8370408); GO_0005515 (EC: IPI, PMID: 15479433); GO_0005576 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 8370408); GO_0006898 (EC: NAS, PMID: 8370408); GO_0006953 (EC: IEA); GO_0030666 (EC: TAS) PMID: 8125298; 8370408; 10066432; 10403791; 10577520; 10648003; 11124526; 11196644; 11298324; 11334962; 11688984; 11854028; 11865982; 12115225; 12208511; 12296867; 12377940; 12477932; 14656926; 14962251; 15075364; 15146432; 15448162; 15478309; 15479433; 15489334; 15613100; 15624762; 15846794; 16189277; 16335952; 16344560; 16434690; 16507898; 16517975; 16522161; 17095719; 17102136; 17117055; 17255364; 17460152; 17525367; 17548657; 17629586; 17947394; 18078989; 18276779; 18316565; 18320015; 18410276; 18542032; 18563533; 18604302; 18849484; 18976975; 19040468; 19131549; 19473660; 19528371; 19582880; 19885719; 19910578; 19961729; 20139978; 20237496; 20299688; 20379614; 20472850; 20807704; 21120485; 21692033; 21737148; 21766094; 21799753; 21813065; 21839737; 21933102; 21962403; 22044760; 22060747; 22098563; 22211334; 22279103; 22289504; 22290142; 22309204; 22354894; 22362417; 22407921; 22450890; 22453843; 22504842; 22540373; 22682876; 22807450; 22884782; 22911680; 22937125; 22948049; 22949100; 23011084; 23013330; 23150181; 23165891; 23224400; 23289476; 23326413; 23539121; 23555776; 23557330; 23589619; 23595052; 23640944; 23660665; 23671278; 23687420; 23692821 CD163 molecule Ensembl:ENSG00000177575 HGNC:1631 HPRD:05708 MIM:605545 Vega:OTTHUMG00000168353 Other designations: hemoglobin scavenger receptor|macrophage-associated antigen|scavenger receptor cysteine-rich type 1 protein M130 CD163 Bin Zhao, Yue Liu, Oliver He HOAT1 OAT1 PAHT ROAT1 WEB: http://www.ncbi.nlm.nih.gov/gene SLC22A6 solute carrier family 22 (organic anion transporter), member 6 9356 11q12.3 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0005452 (EC: IDA, PMID: 15037815); GO_0005515 (EC: IPI, PMID: 16189514); GO_0005886 (EC: TAS); GO_0005887 (EC: IDA, PMID: 14749323); GO_0005901 (EC: IEA); GO_0008514 (EC: IDA, PMID: 10049739); GO_0008514 (EC: IMP); GO_0015347 (EC: IDA, PMID: 9887087); GO_0015347 (EC: IEA); GO_0015711 (EC: IDA, PMID: 10049739); GO_0015711 (EC: IMP); GO_0015742 (EC: IDA, PMID: 9950961); GO_0016323 (EC: IDA, PMID: 15037815); GO_0031404 (EC: IEA); GO_0031427 (EC: IEA); GO_0042803 (EC: IEA); GO_0043234 (EC: IEA); GO_0043252 (EC: IDA, PMID: 9887087); GO_0043252 (EC: IEA); GO_0051260 (EC: IEA); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867); GO_0097254 (EC: IMP); GO_0097254 (EC: NAS, PMID: 10049739) PMID: 9762842; 9887087; 9950961; 10049739; 10462545; 10964714; 11855680; 12429554; 12472777; 12477932; 12874449; 14644751; 14702039; 14749323; 14984259; 15037815; 15039295; 15145940; 15200431; 15284288; 15864112; 15914676; 16024787; 16046403; 16164645; 16189514; 16344560; 16648942; 16920720; 17038320; 17344191; 17353191; 17502342; 17585018; 18365245; 18818201; 19034961; 19056867; 19060904; 19082692; 19088254; 19308960; 19343046; 19400747; 19403644; 19854166; 19892921; 21164499; 21832049; 21865262; 21945944; 22108572; 23255614; 23630107; 23640180; 23832370 solute carrier family 22 (organic anion transporter), member 6 Ensembl:ENSG00000197901 HGNC:10970 HPRD:12125 MIM:607582 Vega:OTTHUMG00000167767 Other designations: PAH transporter|hPAHT|hROAT1|organic anion transporter 1|para-aminohippurate transporter|renal organic anion transporter 1|solute carrier family 22 member 6 SLC22A6 Bin Zhao, Yue Liu, Oliver He OAT3 WEB: http://www.ncbi.nlm.nih.gov/gene SLC22A8 solute carrier family 22 (organic anion transporter), member 8 9376 11q11 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0005080 (EC: IEA); GO_0005452 (EC: IDA, PMID: 15037815); GO_0005886 (EC: TAS); GO_0008514 (EC: IEA); GO_0009636 (EC: IEA); GO_0015651 (EC: IEA); GO_0016021 (EC: IEA); GO_0016323 (EC: IDA, PMID: 15037815); GO_0031427 (EC: IEA); GO_0034635 (EC: IEA); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 10049739; 11855680; 11912245; 12477932; 12811365; 14586168; 14984259; 15037815; 15342556; 15489334; 15644426; 15846473; 16291576; 16344560; 16455804; 16648942; 16793932; 17502342; 17556638; 17578901; 17585018; 18414781; 19034961; 19056867; 19343046; 19878671; 19956635; 20237588; 21164499; 21865262; 21945944; 22108572; 22589738; 23630107; 23649425; 23832370 solute carrier family 22 (organic anion transporter), member 8 Ensembl:ENSG00000149452 HGNC:10972 MIM:607581 Vega:OTTHUMG00000167768 Other designations: hOAT3|organic anion transporter 3|solute carrier family 22 member 8 SLC22A8 Bin Zhao, Yue Liu, Oliver He Hs.22998 PTHSL2 SCZD17 WEB: http://www.ncbi.nlm.nih.gov/gene NRXN1 neurexin 1 9378 2p16.3 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0001525 (EC: ISS); GO_0004872 (EC: TAS, PMID: 1621094); GO_0005102 (EC: ISS); GO_0005246 (EC: ISS); GO_0005509 (EC: ISS); GO_0005515 (EC: IPI, PMID: 11152476); GO_0005886 (EC: IC); GO_0005886 (EC: ISS); GO_0005887 (EC: TAS, PMID: 1621094); GO_0007157 (EC: ISS); GO_0007158 (EC: ISS); GO_0007158 (EC: TAS, PMID: 15797875); GO_0007268 (EC: ISS); GO_0007269 (EC: ISS); GO_0007411 (EC: TAS, PMID: 1621094); GO_0007416 (EC: ISS); GO_0007612 (EC: IMP, PMID: 17034946); GO_0009986 (EC: IDA); GO_0009986 (EC: ISS); GO_0016021 (EC: IEA); GO_0016339 (EC: ISS); GO_0021707 (EC: ISS); GO_0023041 (EC: TAS, PMID: 15797875); GO_0030054 (EC: IEA); GO_0030139 (EC: ISS); GO_0030198 (EC: TAS); GO_0030534 (EC: IMP, PMID: 17034946); GO_0033130 (EC: ISS); GO_0035176 (EC: IMP, PMID: 17034946); GO_0035418 (EC: ISS); GO_0042297 (EC: IMP, PMID: 19896112); GO_0042734 (EC: ISS); GO_0042734 (EC: TAS, PMID: 15797875); GO_0044295 (EC: ISS); GO_0045184 (EC: ISS); GO_0046872 (EC: IEA); GO_0048306 (EC: ISS); GO_0050839 (EC: ISS); GO_0050885 (EC: IMP, Qualifier: NOT, PMID: 19896112); GO_0050885 (EC: ISS, PMID: 19822762); GO_0051490 (EC: ISS); GO_0051965 (EC: ISS); GO_0051968 (EC: ISS); GO_0060134 (EC: IEA); GO_0071625 (EC: IMP, PMID: 17034946); GO_0090004 (EC: ISS); GO_0090129 (EC: ISS); GO_0097091 (EC: ISS); GO_0097104 (EC: ISS); GO_0097105 (EC: ISS); GO_0097109 (EC: ISS); GO_0097112 (EC: ISS); GO_0097114 (EC: ISS); GO_0097116 (EC: ISS); GO_0097117 (EC: ISS); GO_0097118 (EC: ISS); GO_0097119 (EC: ISS); GO_0097120 (EC: ISS); GO_2000310 (EC: ISS); GO_2000311 (EC: ISS); GO_2000463 (EC: ISS); GO_2000821 (EC: IEA) PMID: 1621094; 8576240; 8699246; 8786425; 8901523; 9325340; 9448462; 9628581; 9707552; 9856994; 9921901; 11036064; 11152476; 11171101; 11243866; 11944992; 12036300; 12168954; 12421765; 12477932; 14522992; 14702039; 15684424; 15797875; 15815621; 16344560; 17034946; 17158188; 17989066; 18057082; 18179900; 18270208; 18490107; 18940311; 18945720; 19086053; 19197363; 19460752; 19557195; 19658047; 19675094; 19734545; 19736351; 19822762; 19880096; 19896112; 20113834; 20157312; 20162629; 20201926; 20347009; 20379614; 20414139; 20421335; 20468056; 20543817; 20691247; 20834067; 20860064; 20967226; 21288692; 21424692; 21477380; 21559374; 21687627; 21827697; 21890328; 21964664; 22235116; 22337556; 22405623; 22504536; 22617343; 22645275; 22832527; 22832960; 22948383; 23264101; 23294455; 23319000; 23472757; 23533028; 23533600; 23536886; 23638761; 23772147; 23942779 neurexin 1 Ensembl:ENSG00000179915 HGNC:8008 HPRD:11858 MIM:600565 Vega:OTTHUMG00000129263 Other designations: neurexin I|neurexin-1-beta NRXN1 Bin Zhao, Yue Liu, Oliver He OAT10 OCTL1 OCTL3 ORCTL-3 ORCTL3 WEB: http://www.ncbi.nlm.nih.gov/gene SLC22A13 solute carrier family 22 (organic anion/urate transporter), member 13 9390 3p21.3 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0005887 (EC: NAS, PMID: 10072596); GO_0015101 (EC: NAS, PMID: 10072596); GO_0015695 (EC: NAS, PMID: 10072596); GO_0015747 (EC: IDA, PMID: 10072596); GO_0016324 (EC: IDA, PMID: 18411268); GO_0070062 (EC: IDA, PMID: 19056867); GO_0090416 (EC: IDA, PMID: 18411268); GO_2001142 (EC: IDA, PMID: 18411268) PMID: 10072596; 10213508; 10231028; 12477932; 15489334; 16344560; 18411268; 19056867; 19282870; 19536068; 20379614; 24147638 solute carrier family 22 (organic anion/urate transporter), member 13 Ensembl:ENSG00000172940 HGNC:8494 HPRD:06810 MIM:604047 Vega:OTTHUMG00000131086 Other designations: organic cation transporter-like 3|organic cationic transporter-like 3|organic-cation transporter like 3|solute carrier family 22 (organic anion transporter), member 13|solute carrier family 22 member 13|solute carrier family 22, member 13 SLC22A13 Bin Zhao, Yue Liu, Oliver He KAP Kdap NAP1 NAPA SNAPA WEB: http://www.ncbi.nlm.nih.gov/gene NAPSA napsin A aspartic peptidase 9476 19q13.33 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0004175 (EC: IDA, PMID: 14766755); GO_0004190 (EC: NAS, PMID: 9877162); GO_0005615 (EC: IDA, PMID: 18216060); GO_0005764 (EC: IDA, PMID: 14766755); GO_0006508 (EC: NAS, PMID: 9877162); GO_0008233 (EC: IDA, PMID: 18216060); GO_0033619 (EC: IDA, PMID: 14766755); GO_0043129 (EC: IDA, PMID: 18216060); GO_0070062 (EC: IDA, PMID: 19056867); GO_0097208 (EC: IDA, PMID: 18216060) PMID: 8163018; 9561193; 9877162; 10580105; 10580106; 10591213; 12151090; 12477932; 12698189; 13129928; 14702039; 14766755; 15048123; 18195689; 18216060; 19056867; 19740516; 20830690; 21139048; 21164283; 21464700; 21717589; 21838611; 22156835; 22198009; 22288963; 22418245; 22495379; 22914608; 23194051; 23333608; 23355200; 23503645; 23681073; 23899066; 24145649; 24250222; 24331839 napsin A aspartic peptidase Ensembl:ENSG00000131400 HGNC:13395 HPRD:07064 MIM:605631 Vega:OTTHUMG00000183035 Other designations: ASP4|TA01/TA02|asp 4|aspartyl protease 4|kidney-derived aspartic protease-like protein|napsin-1|napsin-A|pronapsin A NAPSA Bin Zhao, Yue Liu, Oliver He ADAM-TS2 ADAMTS-2 ADAMTS-3 NPI PC I-NP PCI-NP PCINP PCPNI PNPI WEB: http://www.ncbi.nlm.nih.gov/gene ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 9509 5qter 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0004222 (EC: IEA); GO_0005576 (EC: TAS); GO_0005578 (EC: IEA); GO_0007283 (EC: IEA); GO_0008237 (EC: TAS, PMID: 10417273); GO_0008270 (EC: IEA); GO_0030198 (EC: TAS); GO_0030199 (EC: IEA); GO_0030324 (EC: IEA); GO_0030574 (EC: IEA); GO_0043588 (EC: IEA) PMID: 7735500; 10094461; 10417273; 10464288; 11076863; 11167130; 11741898; 11788898; 12477932; 14730609; 15146197; 15373769; 16046392; 16344560; 18624398; 18937294; 20574651; 22205175; 22589738; 22990015 ADAM metallopeptidase with thrombospondin type 1 motif, 2 Ensembl:ENSG00000087116 HGNC:218 HPRD:05173 MIM:604539 Vega:OTTHUMG00000130915 Other designations: A disintegrin and metalloproteinase with thrombospondin motifs 2|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2|procollagen I N-proteinase|procollagen I/II amino propeptide-processing enzyme|procollagen N-endopeptidase ADAMTS2 Bin Zhao, Yue Liu, Oliver He A3B APOBEC1L ARCD3 ARP4 DJ742C19.2 PHRBNL bK150C2.2 WEB: http://www.ncbi.nlm.nih.gov/gene APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 9582 CTA-150C2.15-003 22q13.1-q13.2 20140408 9606 22 protein-coding Official from a nomenclature committee GO_0005634 (EC: IDA, PMID: 16699599); GO_0008152 (EC: IMP); GO_0008270 (EC: IEA); GO_0010529 (EC: IDA, PMID: 16527742); GO_0044822 (EC: IDA); GO_0045087 (EC: IEA); GO_0047844 (EC: IMP); GO_0051607 (EC: IDA) PMID: 10469298; 10591208; 11337467; 11863358; 12477932; 12683974; 12859895; 15269786; 15296758; 15461802; 15466872; 15489334; 16060832; 16407327; 16414984; 16527742; 16648136; 16699599; 17020885; 17067930; 17083721; 17303427; 17447845; 17977970; 18024895; 18304004; 18403710; 18577210; 19008196; 19038776; 19698078; 19911124; 20104108; 20174454; 20684727; 21139048; 21715505; 21878639; 21906983; 21963094; 21995620; 22108670; 22446380; 22457529; 22720156; 23000965; 23150777; 23213177; 23389445; 23542011; 23598277; 23852168; 24010642; 24153179; 24457600 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B Ensembl:ENSG00000179750 HGNC:17352 HPRD:06169 MIM:607110 Vega:OTTHUMG00000151085 Other designations: DNA dC->dU-editing enzyme APOBEC-3B|apolipoprotein B mRNA editing enzyme catalytic polypeptide-like 3B|cytidine deaminase|phorbolin 2|phorbolin 3|phorbolin-1-related protein|phorbolin-2/3|probable DNA dC->dU-editing enzyme APOBEC-3B APOBEC3B Bin Zhao, Yue Liu, Oliver He GAP WEB: http://www.ncbi.nlm.nih.gov/gene RGS6 regulator of G-protein signaling 6 9628 14q24.3 20140408 9606 14 protein-coding Official from a nomenclature committee GO_0004871 (EC: IEA); GO_0005096 (EC: IBA); GO_0005515 (EC: IPI); GO_0005737 (EC: IBA); GO_0005834 (EC: IEA); GO_0005886 (EC: IBA); GO_0007186 (EC: IEA); GO_0008277 (EC: TAS, PMID: 10083744); GO_0035556 (EC: IEA); GO_0038032 (EC: IEA); GO_0043547 (EC: IBA); GO_0043547 (EC: TAS, PMID: 10083744); GO_0045666 (EC: IEA) PMID: 7596406; 10083744; 10339615; 10521509; 12140291; 12477932; 12761220; 12761221; 14702039; 14734556; 15375002; 16691626; 18676680; 19170196; 19625176; 19692168; 19834535; 20379614; 20453000; 20811658; 21041304; 21233807; 21300955; 21935397; 22566634; 22939624 regulator of G-protein signaling 6 Ensembl:ENSG00000182732 HGNC:10002 MIM:603894 Vega:OTTHUMG00000171340 Other designations: GTPase activating protein|H_DJ1108A12.1|S914|WUGSC:H_DJ0283M22.1|WUGSC:H_DJ1108A12.1|regulator of G-protein signalling 6 RGS6 Bin Zhao, Yue Liu, Oliver He CENP-34 RASFADIN WEB: http://www.ncbi.nlm.nih.gov/gene RASSF2 Ras association (RalGDS/AF-6) domain family member 2 9770 RP4-599I11.1 20p13 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 12732644); GO_0005634 (EC: IEA); GO_0005737 (EC: IEA); GO_0007049 (EC: IEA); GO_0007165 (EC: IEA) PMID: 8125298; 8724849; 11210185; 11780052; 11857081; 12477932; 12732644; 15489334; 15569673; 15806169; 16012945; 16265349; 16344560; 17013896; 17013898; 17320110; 17549418; 17891178; 18294275; 19509163; 19513612; 19525978; 19555684; 19773381; 19962960; 20368356; 20379614; 20562859; 20716062; 20920251; 21409489; 21792082; 21890473; 21906983; 23455922; 23455924; 23542458; 24255178 Ras association (RalGDS/AF-6) domain family member 2 Ensembl:ENSG00000101265 HGNC:9883 HPRD:15218 MIM:609492 Vega:OTTHUMG00000031790 Other designations: Ras association (RalGDS/AF-6) domain family 2|centromere protein 34|ras association domain-containing protein 2 RASSF2 Bin Zhao, Yue Liu, Oliver He HSPC082 SIP-1 SIP1 SMADIP1 ZFHX1B WEB: http://www.ncbi.nlm.nih.gov/gene ZEB2 zinc finger E-box binding homeobox 2 9839 HRIHFB2411 2q22.3 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0001755 (EC: IEA); GO_0001756 (EC: IEA); GO_0001843 (EC: IEA); GO_0003700 (EC: IEA); GO_0005634 (EC: IEA); GO_0006351 (EC: IEA); GO_0007399 (EC: NAS, PMID: 11279515); GO_0019208 (EC: NAS, PMID: 11477103); GO_0021766 (EC: IEA); GO_0021846 (EC: IEA); GO_0030177 (EC: IEA); GO_0043507 (EC: IEA); GO_0043565 (EC: IEA); GO_0046872 (EC: IEA); GO_0070412 (EC: IEA) PMID: 8889548; 9628581; 9853615; 10400677; 11279515; 11430829; 11448942; 11477103; 11592033; 11595972; 11891681; 12149685; 12161443; 12175509; 12451214; 12477932; 12714599; 12743038; 12743039; 12746390; 12920073; 15006694; 15026811; 15121779; 15231748; 15342556; 15384097; 15489334; 15742334; 16053902; 16061479; 16169070; 16273209; 16344560; 16532472; 16568083; 16688751; 17060462; 17082780; 17203459; 17360662; 17585049; 17855508; 17932455; 17958891; 18029348; 18182442; 18259761; 18376396; 18411277; 18829540; 19006215; 19183406; 19215041; 19322201; 19336370; 19381684; 19486012; 19651985; 19706487; 19830559; 19842203; 19931509; 20074535; 20145308; 20219685; 20301585; 20375168; 20379614; 20424117; 20515682; 20551052; 20585627; 20634891; 20682777; 21079000; 21139048; 21411626; 21426561; 21518799; 21529905; 21645397; 21747944; 21832049; 21890473; 21890822; 22042972; 22103974; 22213144; 22227038; 22311119; 22350782; 22393452; 22414880; 22486326; 22685266; 22761708; 22892238; 22949513; 23052737; 23143680; 23184150; 23251661; 23312517; 23312518; 23352789; 23376074; 23381389; 23412770; 23427518; 23466526; 23479023; 23658743; 23667531; 23933737; 23974872; 24130169; 24306957 zinc finger E-box binding homeobox 2 Ensembl:ENSG00000169554 HGNC:14881 HPRD:05780 MIM:605802 Vega:OTTHUMG00000131834 Other designations: SMAD interacting protein 1|Smad-interacting protein 1|zinc finger E-box-binding homeobox 2|zinc finger homeobox 1b ZEB2 Bin Zhao, Yue Liu, Oliver He BPR105 GPR105 P2Y14 WEB: http://www.ncbi.nlm.nih.gov/gene P2RY14 purinergic receptor P2Y, G-protein coupled, 14 9934 3q24-q25.1 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0005886 (EC: TAS); GO_0007186 (EC: NAS, PMID: 10753868); GO_0016021 (EC: NAS, PMID: 10753868); GO_0045028 (EC: IEA); GO_0045029 (EC: NAS, PMID: 10753868) PMID: 2834384; 7584026; 7584028; 8011297; 9295203; 10704288; 10753868; 11273702; 11524702; 12369950; 12477932; 12559763; 12695547; 12842911; 12902497; 14559350; 15481977; 15489334; 15829433; 16109883; 16257449; 16263727; 16475938; 16820147; 17016747; 17088057; 18240029; 18577758; 18690346; 19454705; 22673622; 23592514 purinergic receptor P2Y, G-protein coupled, 14 Ensembl:ENSG00000174944 HGNC:16442 HPRD:08820 MIM:610116 Vega:OTTHUMG00000159859 Other designations: G protein coupled receptor for UDP-glucose|G protein-coupled receptor 105|G-protein coupled receptor 105|P2Y purinoceptor 14|P2Y(14) receptor|P2Y14 receptor|UDP-glucose receptor P2RY14 Bin Zhao, Yue Liu, Oliver He CERT CERTL GPBP STARD11 WEB: http://www.ncbi.nlm.nih.gov/gene COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 10087 5q13.3 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0000902 (EC: IEA); GO_0001701 (EC: IEA); GO_0003007 (EC: IEA); GO_0004672 (EC: TAS, PMID: 10212244); GO_0005515 (EC: IPI, PMID: 10212244); GO_0005634 (EC: IDA); GO_0005730 (EC: IDA, Qualifier: NOT); GO_0005739 (EC: IEA); GO_0005789 (EC: TAS); GO_0005794 (EC: IDA); GO_0005829 (EC: TAS); GO_0006468 (EC: TAS, PMID: 10212244); GO_0006665 (EC: TAS); GO_0006672 (EC: IEA); GO_0006936 (EC: IEA); GO_0006955 (EC: NAS, PMID: 11007769); GO_0007029 (EC: IEA); GO_0007165 (EC: IEA); GO_0008283 (EC: IEA); GO_0030148 (EC: TAS); GO_0034976 (EC: IEA); GO_0035620 (EC: IDA, PMID: 18184806); GO_0035621 (EC: IGI, PMID: 14685229); GO_0035621 (EC: IMP, PMID: 18184806); GO_0044281 (EC: TAS); GO_0048471 (EC: IDA, Qualifier: colocalizes_with, PMID: 16895911); GO_0055088 (EC: IEA); GO_0070273 (EC: IDA, PMID: 14685229); GO_0070584 (EC: IEA); GO_0097001 (EC: IDA, PMID: 14685229) PMID: 10027952; 10212244; 11007769; 12477932; 14685229; 14702039; 15489334; 15596449; 15917228; 15976441; 16189514; 16218959; 16338941; 16571669; 16895911; 16970251; 17081983; 17442665; 17591919; 17916599; 18029348; 18165232; 18184806; 18216317; 18411267; 18772132; 19005213; 19197348; 19447967; 19494524; 19615732; 20036255; 20177069; 20875392; 21285358; 21707482; 21731489; 21832087; 21906983; 21909260; 21988832; 22129459; 22226883; 22396542; 22472120; 22863883; 22869376; 24395916 collagen, type IV, alpha 3 (Goodpasture antigen) binding protein Ensembl:ENSG00000113163 HGNC:2205 HPRD:05246 MIM:604677 Vega:OTTHUMG00000102068 Other designations: StAR-related lipid transfer (START) domain containing 11|ceramide transfer protein|ceramide transporter|collagen type IV alpha-3-binding protein|hCERT|lipid-transfer protein CERTL COL4A3BP Bin Zhao, Yue Liu, Oliver He ARL7 LAK WEB: http://www.ncbi.nlm.nih.gov/gene ARL4C ADP-ribosylation factor-like 4C 10123 2q37.1 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0003924 (EC: TAS, PMID: 10462049); GO_0005515 (EC: IPI, PMID: 17398095); GO_0005525 (EC: IEA); GO_0005634 (EC: TAS, PMID: 10462049); GO_0005737 (EC: IDA); GO_0005886 (EC: IDA); GO_0006184 (EC: TAS, PMID: 10462049); GO_0007264 (EC: IEA); GO_0030175 (EC: IEA); GO_0032456 (EC: IDA, PMID: 19409876); GO_0043014 (EC: IDA, PMID: 19409876) PMID: 10462049; 12477932; 15147902; 15489334; 16713569; 17398095; 18029348; 19409876; 20686608; 21187453; 21832049; 21890473; 21906983; 21963094; 23000965 ADP-ribosylation factor-like 4C Ensembl:ENSG00000188042 HGNC:698 HPRD:11988 MIM:604787 Vega:OTTHUMG00000133291 Other designations: ADP ribosylation factor-like protein 7|ADP-ribosylation factor-like 7|ADP-ribosylation factor-like protein 4C|ADP-ribosylation factor-like protein 7|ADP-ribosylation factor-like protein LAK ARL4C Bin Zhao, Yue Liu, Oliver He TACTILE WEB: http://www.ncbi.nlm.nih.gov/gene CD96 CD96 molecule 10225 3q13.13-q13.2 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 1313846); GO_0006955 (EC: TAS, PMID: 1313846); GO_0007155 (EC: IEA); GO_0050776 (EC: TAS) PMID: 1313846; 9845376; 12477932; 15034010; 17576927; 17847009; 19056733; 20237496; 21685187; 21729528; 22879978; 23272144 CD96 molecule Ensembl:ENSG00000153283 HGNC:16892 HPRD:06916 MIM:606037 Vega:OTTHUMG00000159275 Other designations: CD96 antigen|T cell activation, increased late expression|T-cell surface protein tactile|cell surface antigen CD96|t cell-activated increased late expression protein CD96 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene RAMP2 receptor (G protein-coupled) activity modifying protein 2 10266 17q12-q21.1 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0001525 (EC: IDA); GO_0001570 (EC: IMP, PMID: 16964401); GO_0001666 (EC: IEA); GO_0002040 (EC: ISS); GO_0005515 (EC: IPI); GO_0005737 (EC: IDA, PMID: 10882736); GO_0005764 (EC: TAS, PMID: 10882736); GO_0005886 (EC: IDA, Qualifier: colocalizes_with, PMID: 9620797); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 9620797); GO_0005905 (EC: TAS, PMID: 10882736); GO_0006171 (EC: IDA); GO_0006816 (EC: IDA, PMID: 10882736); GO_0006886 (EC: IEA); GO_0007186 (EC: IEA); GO_0007507 (EC: ISS); GO_0007565 (EC: IEA); GO_0008217 (EC: ISS); GO_0008277 (EC: IEA); GO_0008565 (EC: IDA, PMID: 10882736); GO_0009986 (EC: IDA, PMID: 14722252); GO_0010628 (EC: IDA, PMID: 18097473); GO_0015026 (EC: ISS); GO_0015031 (EC: IDA, PMID: 10882736); GO_0030819 (EC: IDA, PMID: 9620797); GO_0031623 (EC: IDA, PMID: 10882736); GO_0032355 (EC: IEA); GO_0032570 (EC: IEA); GO_0032870 (EC: IEA); GO_0034333 (EC: IDA, PMID: 18097473); GO_0035924 (EC: ISS); GO_0043116 (EC: IDA, PMID: 18097473); GO_0043235 (EC: IDA, PMID: 15613468); GO_0045766 (EC: ISS); GO_0070830 (EC: IDA, PMID: 18097473); GO_0070831 (EC: ISS); GO_0072659 (EC: IDA, PMID: 10882736); GO_0097084 (EC: ISS); GO_2000352 (EC: IDA, PMID: 18097473); GO_2001214 (EC: IEA) PMID: 9620797; 10217420; 10354609; 10767413; 10882736; 11060459; 11387328; 11591721; 11754963; 11973435; 12036966; 12093471; 12419522; 12446722; 12477932; 12565884; 14722252; 15245870; 15300632; 15489334; 15613468; 16410241; 16531504; 16912219; 16964401; 17671114; 18097473; 18240029; 18577758; 18593822; 18835256; 19210874; 19913121; 20074556; 20628086; 22102369 receptor (G protein-coupled) activity modifying protein 2 Other designations: CRLR activity-modifying protein 2|calcitonin receptor-like receptor activity modifying protein 2|calcitonin-receptor-like receptor activity-modifying protein 2|receptor (calcitonin) activity modifying protein 2|receptor activity modifying protein 2|receptor activity-modifying protein 2|receptor-activity-modifying protein 2 RAMP2 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene RAMP3 receptor (G protein-coupled) activity modifying protein 3 10268 7p13-p12 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0001921 (EC: IDA, PMID: 15613468); GO_0004872 (EC: IDA, PMID: 10882736); GO_0005515 (EC: IPI, PMID: 15613468); GO_0005622 (EC: IDA); GO_0005764 (EC: IDA, Qualifier: colocalizes_with, PMID: 15613468); GO_0005886 (EC: IDA, PMID: 15613468); GO_0005886 (EC: IDA, Qualifier: colocalizes_with, PMID: 9620797); GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 9620797); GO_0006816 (EC: IDA, PMID: 10882736); GO_0006886 (EC: IEA); GO_0008277 (EC: IEA); GO_0008565 (EC: IDA, PMID: 10882736); GO_0009986 (EC: IDA, PMID: 10882736); GO_0015026 (EC: IEA); GO_0015031 (EC: IDA, PMID: 10882736); GO_0031623 (EC: IDA, PMID: 10882736); GO_0043235 (EC: IDA, PMID: 15613468); GO_0045892 (EC: IMP, PMID: 14722252); GO_0071392 (EC: ISS); GO_0072659 (EC: IDA, PMID: 10882736); GO_0086103 (EC: ISS); GO_0090004 (EC: IDA) PMID: 8125298; 9620797; 10354609; 10385705; 10882736; 11060459; 11387328; 11591721; 11693189; 11973435; 12036966; 12093471; 12419522; 12446722; 12477932; 12565884; 12690205; 12853948; 12939163; 14615490; 14702039; 14722252; 15300632; 15342556; 15489334; 15613468; 15805108; 16169070; 16410241; 16912219; 17207965; 18240029; 18577758; 18593822; 18835256; 19886671; 19913121; 20034525; 20628086; 20802105; 22445753 receptor (G protein-coupled) activity modifying protein 3 Other designations: CRLR activity-modifying protein 3|calcitonin receptor-like receptor activity modifying protein 3|calcitonin-receptor-like receptor activity-modifying protein 3|receptor (calcitonin) activity modifying protein 3|receptor activity modifying protein 3|receptor activity-modifying protein 3|receptor-activity-modifying protein 3 RAMP3 Bin Zhao, Yue Liu, Oliver He CD85D ILT-4 ILT4 LIR-2 LIR2 MIR-10 MIR10 WEB: http://www.ncbi.nlm.nih.gov/gene LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 10288 XXbac-BCX105G6.12-005 19q13.4 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0002578 (EC: IDA, PMID: 19124746); GO_0002666 (EC: IMP); GO_0002767 (EC: IDA); GO_0002767 (EC: IMP, PMID: 14971032); GO_0002774 (EC: IDA, PMID: 9842885); GO_0004872 (EC: TAS, PMID: 9382880); GO_0005515 (EC: IPI, PMID: 18802077); GO_0005615 (EC: IDA, PMID: 14971032); GO_0005737 (EC: IDA, PMID: 19124746); GO_0005886 (EC: TAS); GO_0005887 (EC: IC, PMID: 14971032); GO_0006955 (EC: TAS, PMID: 9079806); GO_0006968 (EC: TAS, PMID: 9382880); GO_0007165 (EC: IDA); GO_0007165 (EC: IMP); GO_0007166 (EC: TAS, PMID: 9079806); GO_0007267 (EC: TAS, PMID: 9382880); GO_0008157 (EC: IPI, PMID: 9842885); GO_0009986 (EC: IDA, PMID: 14971032); GO_0016020 (EC: TAS, PMID: 9079806); GO_0023029 (EC: IPI); GO_0032396 (EC: IDA); GO_0032396 (EC: IMP, PMID: 14971032); GO_0032755 (EC: NAS, PMID: 18550825); GO_0034113 (EC: IDA, PMID: 19124746); GO_0042102 (EC: IDA, PMID: 14971032); GO_0042130 (EC: IDA, PMID: 19124746); GO_0042130 (EC: IMP, PMID: 14971032); GO_0042288 (EC: IDA, PMID: 14971032); GO_0042288 (EC: IPI, PMID: 19124746); GO_0045591 (EC: IMP); GO_0050776 (EC: TAS); GO_0050839 (EC: IPI, PMID: 19124746); GO_0051926 (EC: IDA, PMID: 9842885); GO_0071222 (EC: IMP, PMID: 14971032); GO_2001198 (EC: IC) PMID: 8125298; 9079806; 9151699; 9259559; 9382880; 9531263; 9548455; 9842885; 10190906; 11169396; 11491530; 11875462; 12390682; 12477932; 12853576; 14662864; 14971032; 15301858; 15304001; 15489334; 15670976; 16455647; 17056715; 17400057; 17420263; 17567994; 17923119; 17998301; 18439545; 18538388; 18550825; 18802077; 19010139; 19124746; 19356145; 19535644; 19658091; 19860908; 20448110; 20686565; 20702625; 21063840; 21270408; 21559424; 22593621; 22660330; 22664025; 22767507; 22802125; 22888216; 23018130; 23039892; 23112154; 23238214; 23911358; 24052308; 24133137 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 Ensembl:ENSG00000131042 HGNC:6606 HPRD:11994 MIM:604815 Vega:OTTHUMG00000064896 Other designations: CD85 antigen-like family member D|Ig-like transcript 4|leukocyte immunoglobulin-like receptor subfamily B member 2|monocyte/macrophage immunoglobulin-like receptor 10 LILRB2 Bin Zhao, Yue Liu, Oliver He ABIN-1 NAF1 VAN nip40-1 WEB: http://www.ncbi.nlm.nih.gov/gene TNIP1 TNFAIP3 interacting protein 1 10318 5q32-q33.1 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0002755 (EC: ISS); GO_0004843 (EC: IDA, Qualifier: contributes_to, PMID: 16684768); GO_0005515 (EC: IPI, PMID: 15474016); GO_0005622 (EC: TAS, PMID: 9923610); GO_0005634 (EC: IEA); GO_0005737 (EC: IEA); GO_0006412 (EC: TAS, PMID: 9923610); GO_0006952 (EC: TAS, PMID: 9923610); GO_0006954 (EC: IEA); GO_0007159 (EC: IMP, PMID: 17632516); GO_0009101 (EC: IDA, PMID: 9923610); GO_0043124 (EC: IDA, PMID: 16684768); GO_0045071 (EC: TAS, PMID: 9923610); GO_0045944 (EC: ISS); GO_0050729 (EC: ISS); GO_0051019 (EC: IDA, PMID: 12220502); GO_0070373 (EC: IDA, PMID: 12220502); GO_0085032 (EC: IDA) PMID: 7788527; 8681136; 9687515; 9923610; 10385526; 11090181; 11389905; 12168954; 12220502; 12477932; 12586352; 12927788; 12965196; 14526201; 14743216; 15231748; 15342556; 15474016; 15489334; 16189514; 16344560; 16601202; 16684768; 16713569; 16964243; 17016622; 17135485; 17632516; 18029035; 18029348; 18212736; 18622428; 18676680; 19169254; 19170196; 19262574; 19277210; 19285159; 19464428; 19625176; 19692168; 19695220; 19732752; 19773279; 19838193; 19838195; 20005846; 20010814; 20379614; 20516000; 20849588; 21068098; 21139048; 21266526; 21606507; 21623003; 21674837; 21750679; 21885437; 21906983; 21967852; 21988832; 22001530; 22011580; 22087647; 22093807; 22147607; 22542476; 22833143; 22896740; 23032186; 23055271; 23128233; 23273568; 23464785; 23541940; 23740937; 23911423; 23944604; 23970121 TNFAIP3 interacting protein 1 Ensembl:ENSG00000145901 HGNC:16903 HPRD:09216 MIM:607714 Vega:OTTHUMG00000163722 Other designations: A20-binding inhibitor of NF-kappa-B activation 1|HIV-1 Nef-interacting protein|Nef-associated factor 1 SNP|TNFAIP3-interacting protein 1|virion-associated nuclear shuttling protein TNIP1 Bin Zhao, Yue Liu, Oliver He EDDM4 HE4 WAP5 dJ461P17.6 WEB: http://www.ncbi.nlm.nih.gov/gene WFDC2 WAP four-disulfide core domain 2 10406 RP3-461P17.2 20q13.12 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0004866 (EC: TAS, PMID: 1686187); GO_0004867 (EC: IEA); GO_0004869 (EC: IEA); GO_0005615 (EC: TAS, PMID: 1686187); GO_0006508 (EC: TAS, PMID: 1686187); GO_0007283 (EC: TAS, PMID: 1686187); GO_0010951 (EC: TAS, PMID: 1686187); GO_0019828 (EC: IEA) PMID: 1686187; 1693137; 8125298; 9685187; 10570965; 11780052; 11965550; 12206714; 12477932; 12839961; 15489334; 15781627; 15950183; 16169070; 16600032; 16740002; 17207965; 17448597; 18546615; 19337252; 19732003; 19774626; 19927341; 20171287; 20360068; 20381233; 20490961; 20593939; 21115941; 21633297; 21720250; 21738039; 21833668; 21923475; 22015929; 22037318; 22105734; 22117965; 22284961; 22301440; 22342977; 22373583; 22426406; 22430259; 22524132; 22525819; 22684816; 22745553; 22875782; 22962406; 22967799; 22993374; 23001907; 23084584; 23093276; 23093277; 23095772; 23096757; 23129262; 23139753; 23234010; 23343214; 23353556; 23426716; 23608327; 23640061; 23894390; 24403483 WAP four-disulfide core domain 2 Ensembl:ENSG00000101443 HGNC:15939 HPRD:11684 Vega:OTTHUMG00000032594 Other designations: WAP domain containing protein HE4-V4|WAP four-disulfide core domain protein 2|epididymal protein 4|epididymal secretory protein E4|epididymis-specific, whey-acidic protein type, four-disulfide core|major epididymis-specific protein E4|putative protease inhibitor WAP5 WFDC2 Bin Zhao, Yue Liu, Oliver He CAP-23 CAP23 NAP-22 NAP22 WEB: http://www.ncbi.nlm.nih.gov/gene BASP1 brain abundant, membrane attached signal protein 1 10409 5p15.1 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0003714 (EC: IMP, PMID: 14701728); GO_0005515 (EC: IPI, PMID: 19050011); GO_0005634 (EC: IDA, PMID: 14701728); GO_0005737 (EC: IDA, PMID: 14701728); GO_0005856 (EC: TAS, PMID: 9749536); GO_0005886 (EC: IDA); GO_0007356 (EC: ISS); GO_0008180 (EC: IDA, Qualifier: colocalizes_with, PMID: 18850735); GO_0008406 (EC: ISS); GO_0016607 (EC: ISS); GO_0019904 (EC: IPI, PMID: 14701728); GO_0021762 (EC: IEP); GO_0030054 (EC: IDA); GO_0030426 (EC: IEA); GO_0044212 (EC: ISS); GO_0045892 (EC: IDA, PMID: 19050011); GO_0045892 (EC: IMP, PMID: 14701728); GO_0060231 (EC: ISS); GO_0060421 (EC: ISS); GO_0060539 (EC: ISS); GO_0070062 (EC: IDA, PMID: 19056867); GO_0072075 (EC: ISS); GO_0072112 (EC: ISS); GO_2001076 (EC: ISS) PMID: 8889548; 9310187; 9749536; 10965107; 12477932; 14701728; 15146197; 15489334; 16344560; 17081983; 17500595; 18268500; 18781797; 18850735; 18949357; 19013454; 19050011; 19056867; 19322201; 19376485; 19956849; 21139048; 21269271; 21963094; 21987572; 22304920; 22810585; 22863883; 22939629; 22939983; 23092984; 23275563; 23398456; 24250222; 24255178 brain abundant, membrane attached signal protein 1 Ensembl:ENSG00000176788 HGNC:957 HPRD:08389 MIM:605940 Vega:OTTHUMG00000131061 Other designations: 22 kDa neuronal tissue-enriched acidic protein|brain acid soluble protein 1|brain acid-soluble protein 1|neuronal axonal membrane protein NAP-22|neuronal tissue-enriched acidic protein BASP1 Bin Zhao, Yue Liu, Oliver He 1-8U DSPA2b IP15 WEB: http://www.ncbi.nlm.nih.gov/gene IFITM3 interferon induced transmembrane protein 3 10410 11p15.5 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 18486613); GO_0005765 (EC: IEA); GO_0005886 (EC: IDA); GO_0005886 (EC: TAS); GO_0006955 (EC: TAS, PMID: 1906403); GO_0009615 (EC: IDA); GO_0016021 (EC: IEA); GO_0019221 (EC: TAS); GO_0031902 (EC: IEA); GO_0032897 (EC: IDA); GO_0034341 (EC: IDA); GO_0035455 (EC: IDA); GO_0035456 (EC: IDA); GO_0045071 (EC: IDA); GO_0046597 (EC: IDA); GO_0051607 (EC: IEA); GO_0060337 (EC: TAS) PMID: 1906403; 10950117; 11076863; 11256614; 12477932; 15489334; 15489336; 16326387; 16344560; 16381901; 18029348; 18177740; 18470904; 18486613; 19901966; 19946179; 20534863; 20972266; 21103663; 21139048; 21177806; 21413873; 21531817; 21890473; 21906983; 21914072; 21963094; 22363774; 22446628; 22511783; 23361009; 23376165; 23601107; 23624618; 23649619; 23658454; 23720721; 23864651; 23874452; 24129573; 24367104; 24370119 interferon induced transmembrane protein 3 Ensembl:ENSG00000142089 HGNC:5414 HPRD:05719 MIM:605579 Vega:OTTHUMG00000165542 Other designations: dispanin subfamily A member 2b|interferon-induced transmembrane protein 3|interferon-inducible protein 1-8U IFITM3 Bin Zhao, Yue Liu, Oliver He CD301 CLECSF13 CLECSF14 HML HML2 MGL WEB: http://www.ncbi.nlm.nih.gov/gene CLEC10A C-type lectin domain family 10, member A 10462 17p13.1 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0005886 (EC: TAS, PMID: 8598452); GO_0006897 (EC: IEA); GO_0016021 (EC: IEA); GO_0030246 (EC: IEA); GO_0045087 (EC: IEA) PMID: 8598452; 8889548; 12477932; 15489334; 19776380; 19834553; 20237496; 22531918; 23275449; 23744646; 23918927 C-type lectin domain family 10, member A Ensembl:ENSG00000132514 HGNC:16916 HPRD:12076 MIM:605999 Vega:OTTHUMG00000177939 Other designations: C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13 (macrophage-derived)|C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)|C-type lectin domain family 10 member A|macrophage lectin 2 (calcium dependent) CLEC10A Bin Zhao, Yue Liu, Oliver He LUMAN LZIP WEB: http://www.ncbi.nlm.nih.gov/gene CREB3 cAMP responsive element binding protein 3 10488 9p13.3 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0000139 (EC: IDA); GO_0000977 (EC: IDA, PMID: 15845366); GO_0001558 (EC: IDA); GO_0002230 (EC: IDA); GO_0003677 (EC: IDA, PMID: 10675342); GO_0003682 (EC: IDA, PMID: 16940180); GO_0003700 (EC: IDA, PMID: 10675342); GO_0003700 (EC: IEA); GO_0005515 (EC: IPI, PMID: 10629049); GO_0005634 (EC: IDA, PMID: 10675342); GO_0005737 (EC: IDA, PMID: 18391022); GO_0005737 (EC: IMP, PMID: 10623756); GO_0005783 (EC: IMP, PMID: 10623756); GO_0005789 (EC: IDA); GO_0005789 (EC: IEA); GO_0005794 (EC: IMP, PMID: 10623756); GO_0005829 (EC: IMP, PMID: 15001559); GO_0006351 (EC: IDA, PMID: 9271389); GO_0006351 (EC: IEA); GO_0006935 (EC: IEA); GO_0006986 (EC: IEA); GO_0006990 (EC: IDA, PMID: 16940180); GO_0008140 (EC: IDA, PMID: 9271389); GO_0016020 (EC: IDA, PMID: 19779205); GO_0016020 (EC: IDA, Qualifier: NOT, PMID: 19779205); GO_0016021 (EC: IDA, PMID: 10623756); GO_0016021 (EC: IEA); GO_0016032 (EC: IEA); GO_0016604 (EC: IDA, PMID: 18391022); GO_0019043 (EC: IDA); GO_0019046 (EC: IDA); GO_0019046 (EC: TAS, PMID: 10623756); GO_0030176 (EC: IDA); GO_0030335 (EC: IMP, PMID: 15001559); GO_0031726 (EC: IDA, PMID: 15001559); GO_0034976 (EC: IDA, PMID: 16940180); GO_0034976 (EC: IDA, Qualifier: NOT, PMID: 15845366); GO_0042127 (EC: IMP, PMID: 10675342); GO_0042803 (EC: IDA, PMID: 10675342); GO_0042994 (EC: IDA); GO_0043025 (EC: IDA); GO_0043565 (EC: IEA); GO_0045786 (EC: NAS, PMID: 10623756); GO_0045893 (EC: IDA, PMID: 9271389); GO_0045944 (EC: IDA, PMID: 15845366); GO_0046983 (EC: TAS, PMID: 10623756); GO_0050930 (EC: IDA, PMID: 19779205); GO_0050930 (EC: IDA, Qualifier: NOT, PMID: 19779205); GO_0050930 (EC: IMP, PMID: 15001559); GO_0051928 (EC: IMP, PMID: 15001559); GO_0090026 (EC: IDA, PMID: 17296613); GO_0090045 (EC: IDA, PMID: 19779205); GO_2000326 (EC: IDA, PMID: 19779205); GO_2000326 (EC: IDA, Qualifier: NOT, PMID: 19779205) PMID: 9271389; 9389645; 9658067; 10623756; 10629049; 10675342; 10984507; 11384994; 12138176; 12235138; 12271126; 12477932; 12805554; 15001559; 15489334; 15705566; 15845366; 16189514; 16940180; 17054986; 17192849; 17296613; 18189280; 18391022; 19460752; 19779205; 20195357; 20473547; 20546900; 21906983; 21988832; 22004728; 22009750; 23023215; 23583719; 23661758; 24185178 cAMP responsive element binding protein 3 Ensembl:ENSG00000107175 HGNC:2347 MIM:606443 Vega:OTTHUMG00000019872 Other designations: CREB-3|basic leucine zipper protein|cAMP-responsive element-binding protein 3|cyclic AMP response element (CRE)-binding protein/activating transcription factor 1|cyclic AMP-responsive element-binding protein 3|leucin zipper proitein|leucine zipper protein|transcription factor LZIP-alpha CREB3 Bin Zhao, Yue Liu, Oliver He ADCL2 ARCL1A ARMD3 DANCE EVEC FIBL-5 UP50 WEB: http://www.ncbi.nlm.nih.gov/gene FBLN5 fibulin 5 10516 UNQ184/PRO210 14q32.1 20140408 9606 14 protein-coding Official from a nomenclature committee GO_0001558 (EC: IEA); GO_0005178 (EC: TAS, PMID: 10428823); GO_0005509 (EC: IEA); GO_0005515 (EC: IPI, PMID: 17581631); GO_0005576 (EC: TAS); GO_0005578 (EC: TAS, PMID: 10428823); GO_0005615 (EC: IDA); GO_0007160 (EC: TAS, PMID: 10428823); GO_0008022 (EC: IPI, PMID: 15528465); GO_0030198 (EC: TAS); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0034394 (EC: ISS); GO_0048251 (EC: ISS); GO_0071953 (EC: ISS, Qualifier: colocalizes_with); GO_2000121 (EC: ISS) PMID: 10428823; 10640802; 11549288; 11805834; 11805835; 12111551; 12189163; 12477932; 12618961; 12975309; 14745449; 15269314; 15342556; 15489334; 15528465; 16153447; 16303743; 16344560; 16374472; 16691202; 16713569; 16837650; 16904068; 17035250; 17255108; 17371835; 17472576; 17581631; 18029348; 18185537; 18222970; 18341572; 18391951; 18985028; 18989607; 19015224; 19167375; 19194475; 19251763; 19450918; 19570982; 19617354; 19767220; 19862539; 19948975; 19957551; 20007835; 20133342; 20201926; 20301756; 20379614; 20546612; 20599547; 20599731; 21122382; 21193390; 21290250; 21454378; 21519142; 21576112; 22280367; 22685266; 22790990; 22829427; 22990118; 23782690 fibulin 5 Ensembl:ENSG00000140092 HGNC:3602 HPRD:05204 MIM:604580 Vega:OTTHUMG00000171122 Other designations: developmental arteries and neural crest EGF-like protein|fibulin-5|urine p50 protein FBLN5 Bin Zhao, Yue Liu, Oliver He ANGIE ANGIE2 BCA-1 BCA1 BLC BLR1L SCYB13 WEB: http://www.ncbi.nlm.nih.gov/gene CXCL13 chemokine (C-X-C motif) ligand 13 10563 4q21 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0002467 (EC: NAS, PMID: 16543475); GO_0002518 (EC: ISS); GO_0002544 (EC: NAS, PMID: 15284119); GO_0002920 (EC: NAS, PMID: 16531331); GO_0005576 (EC: IDA, PMID: 17562761); GO_0005576 (EC: TAS); GO_0005615 (EC: IEA); GO_0006955 (EC: IC, PMID: 11554781); GO_0007166 (EC: IDA, PMID: 11554781); GO_0007204 (EC: IDA, PMID: 11554781); GO_0007267 (EC: IDA, PMID: 11554781); GO_0008009 (EC: IDA, PMID: 11554781); GO_0008201 (EC: IDA, PMID: 11708770); GO_0010820 (EC: IDA, PMID: 11554781); GO_0017134 (EC: IDA, PMID: 11708770); GO_0031724 (EC: IDA, PMID: 9463416); GO_0031735 (EC: IDA, PMID: 10706668); GO_0032861 (EC: ISS); GO_0033625 (EC: ISS); GO_0033634 (EC: ISS); GO_0035754 (EC: IDA, PMID: 9463416); GO_0035768 (EC: IDA, PMID: 11708770); GO_0035769 (EC: IEA); GO_0042742 (EC: IDA, PMID: 17562761); GO_0045765 (EC: NAS, PMID: 11708770); GO_0046982 (EC: IDA, PMID: 11708770); GO_0048018 (EC: IDA, PMID: 11554781); GO_0048248 (EC: IPI, PMID: 11554781); GO_0048535 (EC: IEA); GO_2000545 (EC: IDA, PMID: 11708770) PMID: 9463416; 9486651; 10706668; 11554781; 11708770; 11877260; 12393412; 12406091; 12477932; 12732660; 14763921; 15284119; 15489334; 15546958; 15780119; 15929033; 15934082; 15965952; 16169070; 16318584; 16531331; 16543475; 16678487; 17082584; 17082648; 17207965; 17474076; 17495955; 17562761; 17592274; 17652619; 17703412; 17709502; 17949547; 18172003; 18292286; 18354239; 18528326; 18550853; 18566383; 18577758; 18668547; 18757429; 18773213; 18780835; 18781150; 18792075; 19031272; 19095563; 19258923; 19375853; 19575892; 19671684; 19773382; 19774453; 19805441; 19807029; 19816883; 19955043; 19996075; 20011704; 20042073; 20056178; 20109310; 20223524; 20237496; 20400187; 20412587; 20495539; 20503287; 21078761; 21084753; 21135023; 21191639; 21211990; 21305530; 21320077; 21372118; 21576203; 21642390; 21645150; 22000402; 22008312; 22036953; 22044682; 22330139; 22335599; 22591862; 22607768; 22718279; 22840692; 22913878; 22975753; 23175382; 23189125; 23247143; 23250934; 23570798; 23904442; 23925290; 24027428; 24138885 chemokine (C-X-C motif) ligand 13 Ensembl:ENSG00000156234 HGNC:10639 HPRD:05513 MIM:605149 Vega:OTTHUMG00000130201 Other designations: B-cell chemoattractant|B-cell-attracting chemokine 1|B-cell-homing chemokine (ligand for Burkitt's lymphoma receptor-1)|B-lymphocyte chemoattractant|C-X-C motif chemokine 13|CXC chemokine BLC|b cell-attracting chemokine 1|b lymphocyte chemoattractant|chemokine (C-X-C motif) ligand 13 (B-cell chemoattractant)|small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)|small-inducible cytokine B13 CXCL13 Bin Zhao, Yue Liu, Oliver He 519 D2S69E LAG-2 LAG2 NKG5 TLA519 WEB: http://www.ncbi.nlm.nih.gov/gene GNLY granulysin 10578 2p11.2 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0005615 (EC: TAS, PMID: 2212946); GO_0006968 (EC: TAS, PMID: 9756476); GO_0031640 (EC: IEA); GO_0042742 (EC: IEA); GO_0050832 (EC: IEA) PMID: 2209093; 2212946; 2434598; 8423048; 9058801; 9194222; 9756476; 10449094; 10644038; 11418670; 12145461; 12421959; 12477932; 12483306; 12488100; 12626573; 12884856; 15223905; 15489334; 15778384; 15843520; 16344560; 16980658; 17038537; 17596262; 17703412; 18192122; 18490721; 18584314; 18688023; 19029983; 19106590; 19111751; 19243819; 19258923; 19454696; 19687290; 19861007; 20237496; 20503287; 20660289; 20889547; 21296981; 21501511; 21623991; 21819408; 21832049; 22045985; 22216262; 22586033; 22788687; 22890551; 23399514; 23801887; 24269628 granulysin Ensembl:ENSG00000115523 HGNC:4414 HPRD:01788 MIM:188855 Vega:OTTHUMG00000130179 Other designations: T-cell activation protein 519|T-lymphocyte activation gene 519|lymphocyte-activation gene 2|lymphokine LAG-2 GNLY Bin Zhao, Yue Liu, Oliver He 1-8D DSPA2c WEB: http://www.ncbi.nlm.nih.gov/gene IFITM2 interferon induced transmembrane protein 2 10581 11p15.5 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0005886 (EC: TAS); GO_0006955 (EC: TAS, PMID: 1906403); GO_0009615 (EC: IDA); GO_0016021 (EC: IEA); GO_0019221 (EC: TAS); GO_0034341 (EC: IDA); GO_0035455 (EC: IDA); GO_0035456 (EC: IDA); GO_0045071 (EC: IDA); GO_0046597 (EC: IDA); GO_0051607 (EC: IEA); GO_0060337 (EC: TAS) PMID: 1906403; 3935435; 6548414; 12477932; 15231747; 15489334; 16169070; 19544527; 20534863; 20628624; 20972266; 21139048; 21177806; 21319273; 21890473; 21906983; 21963094; 21987572; 22363774; 23376165; 23720721 interferon induced transmembrane protein 2 Ensembl:ENSG00000185201 HGNC:5413 HPRD:05718 MIM:605578 Vega:OTTHUMG00000165357 Other designations: dispanin subfamily A member 2c|interferon-induced transmembrane protein 2|interferon-inducible protein 1-8D IFITM2 Bin Zhao, Yue Liu, Oliver He OSF-2 OSF2 PDLPOSTN PN periostin WEB: http://www.ncbi.nlm.nih.gov/gene POSTN periostin, osteoblast specific factor 10631 RP11-412K4.1 13q13.3 20140408 9606 13 protein-coding Official from a nomenclature committee GO_0001501 (EC: TAS, PMID: 8363580); GO_0005578 (EC: ISS); GO_0005794 (EC: IEA); GO_0007155 (EC: IDA, PMID: 12235007); GO_0008201 (EC: ISS); GO_0008593 (EC: IEA); GO_0009888 (EC: IEA); GO_0030198 (EC: IEA); GO_0031012 (EC: IDA, Qualifier: colocalizes_with) PMID: 8363580; 11550156; 12235007; 12477932; 14702039; 15057823; 15082792; 15093540; 15342556; 15880581; 16136586; 16335952; 16368877; 16702213; 16807673; 17014703; 17043657; 17060937; 17649947; 17876898; 18086302; 18097555; 18208976; 18270434; 18381746; 18434370; 18443362; 18450759; 18465194; 18487994; 18560459; 18753297; 18799196; 18949745; 19038863; 19079190; 19141349; 19321256; 19328625; 19419450; 19453261; 19478074; 19524268; 19578758; 19619531; 19688273; 19695571; 19834535; 19887451; 19893021; 19913121; 19932262; 20056178; 20096135; 20112500; 20309942; 20459570; 20489157; 20516120; 20534149; 20628086; 20654574; 20654714; 20660732; 20688362; 21177844; 21225237; 21290209; 21347516; 21474826; 21508107; 21558869; 21573804; 21605971; 21677839; 21714934; 21801849; 21839814; 21854746; 22166650; 22167593; 22215184; 22222231; 22266908; 22403621; 22471299; 22590609; 22659570; 22706927; 22735632; 22911870; 22918213; 22952986; 23043074; 23076534; 23275141; 23306834; 23326517; 23372176; 23453657; 23467707; 23702840; 23728938; 23735324; 23791506; 23896380; 24129188 periostin, osteoblast specific factor Ensembl:ENSG00000133110 HGNC:16953 HPRD:12295 MIM:608777 Vega:OTTHUMG00000016751 Other designations: osteoblast specific factor 2 (fasciclin I-like)|periodontal ligament-specific periostin|periostin POSTN Bin Zhao, Yue Liu, Oliver He NPT4 WEB: http://www.ncbi.nlm.nih.gov/gene SLC17A3 solute carrier family 17 (organic anion transporter), member 3 10786 RP1-139G21.3 6p21.3 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0005436 (EC: ISS); GO_0005737 (EC: IDA); GO_0005789 (EC: IDA, PMID: 15505377); GO_0005789 (EC: TAS); GO_0005886 (EC: TAS); GO_0005887 (EC: IDA); GO_0006814 (EC: ISS); GO_0006817 (EC: ISS); GO_0006855 (EC: IDA); GO_0008308 (EC: IDA); GO_0008514 (EC: IDA); GO_0015143 (EC: IDA); GO_0015238 (EC: IDA); GO_0015562 (EC: IDA); GO_0015711 (EC: IDA); GO_0015747 (EC: IDA); GO_0015760 (EC: TAS, PMID: 15505377); GO_0015849 (EC: IDA); GO_0015893 (EC: IDA); GO_0016324 (EC: IDA); GO_0019534 (EC: IDA); GO_0031526 (EC: ISS); GO_0034220 (EC: TAS); GO_0035435 (EC: ISS); GO_0035725 (EC: ISS); GO_0044070 (EC: IDA); GO_0046415 (EC: IMP, PMID: 18834626); GO_0048471 (EC: IDA, PMID: 15505377); GO_0055085 (EC: TAS); GO_1901998 (EC: IDA) PMID: 9149941; 12477932; 15505377; 16712791; 18834626; 19571809; 19862010; 19890391; 20053405; 20162743; 20379614; 20587610; 20810651; 21282933; 21778665; 23222517; 23263486; 23824729 solute carrier family 17 (organic anion transporter), member 3 Ensembl:ENSG00000124564 HGNC:10931 HPRD:10233 MIM:611034 Vega:OTTHUMG00000014412 Other designations: Na(+)/PI cotransporter 4|sodium-dependent phosphate transport protein 4|sodium/phosphate cotransporter 4|solute carrier family 17 (sodium phosphate), member 3 SLC17A3 Bin Zhao, Yue Liu, Oliver He NLT OAT2 WEB: http://www.ncbi.nlm.nih.gov/gene SLC22A7 solute carrier family 22 (organic anion transporter), member 7 10864 RP11-480N24.7 6p21.1 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0005886 (EC: TAS); GO_0005887 (EC: TAS, PMID: 9650585); GO_0015347 (EC: TAS, PMID: 9650585); GO_0015711 (EC: TAS, PMID: 9650585); GO_0016020 (EC: TAS, PMID: 9650585); GO_0016323 (EC: IEA); GO_0035634 (EC: IEA); GO_0055085 (EC: TAS) PMID: 9650585; 10773670; 11327718; 11855680; 11907186; 12023506; 12477932; 16344560; 18216183; 19343046; 19854166; 21446918; 22190696; 22981274; 23263486 solute carrier family 22 (organic anion transporter), member 7 Ensembl:ENSG00000137204 HGNC:10971 HPRD:05409 MIM:604995 Vega:OTTHUMG00000014726 Other designations: hOAT2|liver-specific transporter|novel liver transporter|organic anion transporter 2|solute carrier family 22 member 7 SLC22A7 Bin Zhao, Yue Liu, Oliver He T49 pT49 WEB: http://www.ncbi.nlm.nih.gov/gene FGL2 fibrinogen-like 2 10875 7q11.23 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0005577 (EC: TAS, PMID: 7642106); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 1602151; 7642106; 8125298; 9647217; 11170750; 12477932; 12624729; 12690205; 15489334; 15490304; 15905589; 16335952; 16344560; 16437596; 18390877; 18801734; 18932275; 19056867; 19423547; 19590927; 20438701; 22082274; 22925132; 22983266; 23195010 fibrinogen-like 2 Ensembl:ENSG00000127951 HGNC:3696 HPRD:16098 MIM:605351 Vega:OTTHUMG00000130681 Other designations: fibrinogen-like protein 2|fibroleukin FGL2 Bin Zhao, Yue Liu, Oliver He TSPAN21 UP1A UPIA UPKA WEB: http://www.ncbi.nlm.nih.gov/gene UPK1A uroplakin 1A 11045 19q13.13 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0005783 (EC: ISS); GO_0005886 (EC: ISS); GO_0005886 (EC: TAS, PMID: 15088894); GO_0016021 (EC: ISS); GO_0016324 (EC: IEA); GO_0030855 (EC: IDA, PMID: 10514386); GO_0042803 (EC: ISS); GO_0048029 (EC: ISS); GO_0051259 (EC: ISS); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 8138569; 8530366; 9846985; 10404304; 10514386; 11739647; 12036448; 12475947; 12477932; 15057824; 15088894; 15200408; 15489334; 15913809; 18051367; 19056867; 19577575; 20978196 uroplakin 1A Ensembl:ENSG00000105668 HGNC:12577 HPRD:15624 MIM:611557 Vega:OTTHUMG00000048115 Other designations: tetraspanin-21|tspan-21|uroplakin Ia|uroplakin-1a UPK1A Bin Zhao, Yue Liu, Oliver He UBCH10 dJ447F3.2 WEB: http://www.ncbi.nlm.nih.gov/gene UBE2C ubiquitin-conjugating enzyme E2C 11065 RP3-447F3.1 20q13.12 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0000278 (EC: TAS); GO_0004842 (EC: IDA); GO_0004842 (EC: IDA, Qualifier: contributes_to, PMID: 18485873); GO_0005515 (EC: IPI, PMID: 19822757); GO_0005524 (EC: IEA); GO_0005654 (EC: TAS); GO_0005680 (EC: IDA, PMID: 18485873); GO_0005829 (EC: TAS); GO_0006511 (EC: IDA, PMID: 18485873); GO_0007049 (EC: NAS, PMID: 15504738); GO_0007051 (EC: NAS, PMID: 15504738); GO_0007094 (EC: TAS); GO_0008054 (EC: IDA, PMID: 9122200); GO_0010458 (EC: IMP, PMID: 19822757); GO_0010994 (EC: IDA, PMID: 19822757); GO_0016567 (EC: IDA, PMID: 9122200); GO_0031145 (EC: IDA, PMID: 19822757); GO_0031145 (EC: TAS); GO_0031536 (EC: IMP, PMID: 9122200); GO_0048015 (EC: NAS, PMID: 15504738); GO_0051436 (EC: TAS); GO_0051437 (EC: TAS); GO_0051439 (EC: TAS); GO_0051488 (EC: TAS, PMID: 17443180); GO_0070936 (EC: IDA); GO_0070979 (EC: IDA, PMID: 18485873) PMID: 9122200; 10548110; 10793135; 11285280; 11340163; 11535616; 11549316; 11739784; 11742988; 11780052; 11927573; 12070128; 12477932; 12874022; 14593737; 14671314; 14690596; 15029244; 15107846; 15208666; 15342556; 15489334; 15504738; 15749827; 16106252; 16169070; 16196087; 16341674; 16455800; 16472766; 16712791; 16772118; 17217624; 17227951; 17339342; 17354233; 17360335; 17443180; 17443186; 17588522; 18264111; 18331723; 18485873; 18559889; 18662541; 18666437; 18722180; 18753363; 18854154; 19038004; 19302711; 19322201; 19438748; 19475398; 19638491; 19657671; 19690564; 19779934; 19820702; 19822757; 19826003; 19913121; 20007692; 20065091; 20080579; 20360068; 20530197; 20628086; 20639865; 20733055; 20739533; 20864041; 21139048; 21354912; 21454660; 21556051; 21651863; 21874044; 21890473; 21906983; 21937719; 21963094; 21965653; 21988832; 22053931; 22056852; 22193957; 22415060; 22505724; 22529100; 22580460; 22694363; 22760214; 22939629; 23000965; 23078409; 23102841; 23201130; 23355337; 23357462; 23707760; 23708001; 23708605; 23791783; 23824909; 23826418 ubiquitin-conjugating enzyme E2C Ensembl:ENSG00000175063 HGNC:15937 HPRD:05717 MIM:605574 Vega:OTTHUMG00000033038 Other designations: cyclin-selective ubiquitin carrier protein|mitotic-specific ubiquitin-conjugating enzyme|ubiquitin-conjugating enzyme E2 C|ubiquitin-protein ligase C UBE2C Bin Zhao, Yue Liu, Oliver He CMD1C CYPHER LDB3Z1 LDB3Z4 LVNC3 MFM4 ORACLE PDLIM6 ZASP WEB: http://www.ncbi.nlm.nih.gov/gene LDB3 LIM domain binding 3 11155 10q22.3-q23.2 20140408 9606 10 protein-coding Official from a nomenclature committee GO_0005080 (EC: IEA); GO_0005515 (EC: IPI, PMID: 10427098); GO_0005856 (EC: IDA, PMID: 10427098); GO_0008092 (EC: IPI, PMID: 17987659); GO_0008270 (EC: IEA); GO_0030018 (EC: IDA, PMID: 10427098); GO_0031143 (EC: IEA); GO_0045214 (EC: IEA); GO_0048471 (EC: IEA); GO_0051371 (EC: IEA) PMID: 8681137; 9734811; 10391924; 10427098; 10727866; 11076863; 11842093; 12477932; 14660611; 14662268; 14702039; 15174051; 16344560; 16385451; 16476425; 17394203; 17987659; 18513529; 19377068; 19472918; 20066428; 20201937; 20301486; 20301672; 20474083; 22349865; 22929165; 23271734; 23996002 LIM domain binding 3 Ensembl:ENSG00000122367 HGNC:15710 HPRD:16172 MIM:605906 Vega:OTTHUMG00000018655 Other designations: LIM domain-binding protein 3|PDZ and LIM domain 6|Z-band alternatively spliced PDZ motif protein|Z-band alternatively spliced PDZ-motif protein|cardiomyopathy, dilated 1C (autosomal dominant)|protein cypher LDB3 Bin Zhao, Yue Liu, Oliver He ADAM-TS 6 ADAM-TS6 ADAMTS-6 WEB: http://www.ncbi.nlm.nih.gov/gene ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 11174 5q12 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0004222 (EC: IEA); GO_0005578 (EC: IEA); GO_0008237 (EC: TAS, PMID: 10464288); GO_0008270 (EC: IEA) PMID: 7566098; 8401585; 10464288; 11167130; 12477932; 15123239; 16129570; 18579725; 20379614; 20889312; 23212062; 23291589; 23727862; 24457600 ADAM metallopeptidase with thrombospondin type 1 motif, 6 Ensembl:ENSG00000049192 HGNC:222 HPRD:05421 MIM:605008 Vega:OTTHUMG00000074079 Other designations: A disintegrin and metalloproteinase with thrombospondin motifs 6|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6 ADAMTS6 Bin Zhao, Yue Liu, Oliver He NPH2 WEB: http://www.ncbi.nlm.nih.gov/gene NXPH2 neurexophilin 2 11249 2q22.1 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0003674 (EC: ND); GO_0005576 (EC: IEA); GO_0007218 (EC: NAS, PMID: 9570794) PMID: 8699246; 9570794; 12477932; 15489334; 19478329; 21956439 neurexophilin 2 HGNC:8076 HPRD:11983 MIM:604635 Other designations: neurexophilin-2 NXPH2 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene SYNPO synaptopodin 11346 5q33.1 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0001725 (EC: IEA); GO_0003779 (EC: ISS); GO_0005515 (EC: IPI, PMID: 15841212); GO_0005737 (EC: IEA); GO_0005923 (EC: IEA); GO_0014069 (EC: IEA); GO_0015629 (EC: IDA); GO_0015629 (EC: ISS); GO_0032233 (EC: IEA); GO_0032233 (EC: ISS); GO_0043197 (EC: TAS, PMID: 15841212); GO_0043204 (EC: IEA); GO_0045211 (EC: IEA); GO_0051492 (EC: IEA); GO_0051492 (EC: ISS) PMID: 7566098; 8681137; 9314539; 10470851; 11076863; 11230166; 11256614; 12042308; 12477932; 14702039; 15342556; 15343382; 15489336; 15592455; 15659229; 15841212; 16260903; 16344560; 16381901; 16564554; 16622418; 17081983; 17255128; 18596123; 19531213; 19666657; 20201926; 20630939; 20936779; 21139048; 21655212; 21988832; 22217474; 23000965 synaptopodin SYNPO Bin Zhao, Yue Liu, Oliver He Lmnt1 WEB: http://www.ncbi.nlm.nih.gov/gene NTNG1 netrin G1 22854 UNQ571/PRO1133 1p13.3 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 14595443); GO_0007409 (EC: ISS); GO_0046658 (EC: ISS) PMID: 10231032; 10964959; 12477932; 12975309; 14595443; 15340161; 15489334; 15494819; 15508520; 15705354; 15870826; 15901489; 16502428; 16710414; 17207965; 17507910; 17903671; 18234954; 18384956; 18628988; 19240061; 19913121; 20029409; 20379614; 20628086; 21079607; 22227940; 23769687 netrin G1 Ensembl:ENSG00000162631 HGNC:23319 HPRD:16389 MIM:608818 Vega:OTTHUMG00000010965 Other designations: YLSR571|axon guidance molecule|laminet 1|laminet-1|netrin G1f|netrin-G1 NTNG1 Bin Zhao, Yue Liu, Oliver He ECM EMILIN4 GPIa* MMRN WEB: http://www.ncbi.nlm.nih.gov/gene MMRN1 multimerin 1 22915 4q22 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0002576 (EC: TAS); GO_0005576 (EC: TAS); GO_0007155 (EC: TAS, PMID: 9189649); GO_0007596 (EC: TAS); GO_0030168 (EC: TAS); GO_0031093 (EC: TAS) PMID: 7629143; 8514871; 8652809; 9189649; 9372017; 9454761; 9798985; 10828608; 12477932; 12665801; 15452129; 15489334; 15583744; 15849733; 16263699; 16335952; 16363244; 17955473; 18452976; 19132231; 19175495; 19915575; 20237496; 21058943 multimerin 1 Ensembl:ENSG00000138722 HGNC:7178 HPRD:03267 MIM:601456 Vega:OTTHUMG00000130947 Other designations: EMILIN-4|elastin microfibril interface located protein 4|elastin microfibril interfacer 4|endothelial cell multimerin|glycoprotein Ia*|multimerin-1 MMRN1 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene ELL2 elongation factor, RNA polymerase II, 2 22936 5q15 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0005634 (EC: IDA); GO_0005730 (EC: IDA, Qualifier: NOT); GO_0005737 (EC: IDA); GO_0005813 (EC: IDA); GO_0006355 (EC: IEA); GO_0006368 (EC: IEA); GO_0008023 (EC: IEA) PMID: 9108030; 11418481; 11752456; 12446457; 12477932; 15489334; 18029348; 19749764; 20379614; 20471948; 21242887; 21360054; 21729782; 21873227; 21963094; 21988832; 22483617; 23022100; 23382691 elongation factor, RNA polymerase II, 2 Other designations: ELL-related RNA polymerase II, elongation factor|RNA polymerase II elongation factor ELL2 ELL2 Bin Zhao, Yue Liu, Oliver He HSULF-1 SULF-1 WEB: http://www.ncbi.nlm.nih.gov/gene SULF1 sulfatase 1 23213 8q13.1 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0001822 (EC: ISS); GO_0001937 (EC: IDA, PMID: 16778174); GO_0002063 (EC: ISS); GO_0003094 (EC: ISS); GO_0004065 (EC: IDA, PMID: 12368295); GO_0004065 (EC: IMP, PMID: 19520866); GO_0005509 (EC: IEA); GO_0005615 (EC: IDA, PMID: 19666466); GO_0005615 (EC: NAS, PMID: 12368295); GO_0005783 (EC: IDA, PMID: 18687675); GO_0005794 (EC: ISS); GO_0005795 (EC: IEA); GO_0005886 (EC: ISS); GO_0006915 (EC: IEA); GO_0008449 (EC: IDA, PMID: 18687675); GO_0008449 (EC: IMP, PMID: 19520866); GO_0009986 (EC: IDA, PMID: 12368295); GO_0010575 (EC: ISS); GO_0014846 (EC: ISS); GO_0016525 (EC: IDA, PMID: 16778174); GO_0030177 (EC: IDA, PMID: 19520866); GO_0030201 (EC: IDA, PMID: 18687675); GO_0030201 (EC: NAS, PMID: 12368295); GO_0030336 (EC: IMP); GO_0030513 (EC: IMP); GO_0032836 (EC: ISS); GO_0035860 (EC: ISS); GO_0040036 (EC: IMP); GO_0040037 (EC: IMP); GO_0040037 (EC: ISS); GO_0045121 (EC: IDA, PMID: 19520866); GO_0048010 (EC: IDA, PMID: 16778174); GO_0048706 (EC: ISS); GO_0051216 (EC: ISS); GO_0060348 (EC: ISS); GO_0060384 (EC: ISS); GO_0060686 (EC: ISS) PMID: 10470851; 11230166; 12368295; 12477932; 12686563; 14699503; 14702039; 14973553; 15817123; 16192265; 16344560; 16603650; 16762634; 16778174; 17044071; 17113870; 17310998; 17363371; 17437011; 17460759; 17728400; 18503048; 18507859; 18687675; 19006069; 19086847; 19373441; 19376607; 19487294; 19520866; 19666466; 19780053; 19822709; 19953087; 20083228; 20084279; 20379614; 20479257; 20602915; 20677014; 20816204; 20855470; 21104785; 21214932; 21228115; 21266348; 21594647; 21599997; 21722266; 21732829; 21808097; 21832049; 21853101; 21998595; 22086394; 22198210; 22304734; 22410212; 22429964; 22524839; 22581228; 22653794; 22700218; 22825572; 22873647; 22903264; 22906644; 23000194; 23053899; 23457216; 23480519; 23684551; 23891937 sulfatase 1 Ensembl:ENSG00000137573 HGNC:20391 HPRD:15450 MIM:610012 Vega:OTTHUMG00000164466 Other designations: extracellular sulfatase Sulf-1|sulfatase FP SULF1 Bin Zhao, Yue Liu, Oliver He Sel-1L3 WEB: http://www.ncbi.nlm.nih.gov/gene SEL1L3 sel-1 suppressor of lin-12-like 3 (C. elegans) 23231 4p15.2 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0016021 (EC: IEA) PMID: 9847074; 9872452; 12477932; 16169070; 17457313; 20379614; 20708005; 21906983; 22268729 sel-1 suppressor of lin-12-like 3 (C. elegans) Ensembl:ENSG00000091490 HGNC:29108 HPRD:11105 Vega:OTTHUMG00000160331 Other designations: protein sel-1 homolog 3|suppressor of lin-12-like protein 3 SEL1L3 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene SATB2 SATB homeobox 2 23314 2q33 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0000118 (EC: IEA); GO_0000122 (EC: IEA); GO_0001764 (EC: IEA); GO_0002076 (EC: IEA); GO_0003682 (EC: IEA); GO_0003700 (EC: IEA); GO_0005515 (EC: IPI); GO_0005634 (EC: IDA); GO_0005667 (EC: IEA); GO_0005730 (EC: IDA, Qualifier: NOT); GO_0005737 (EC: IDA); GO_0006338 (EC: IEA); GO_0006351 (EC: IEA); GO_0009880 (EC: IEA); GO_0016363 (EC: IEA); GO_0043565 (EC: IEA); GO_0045944 (EC: IEA); GO_0048704 (EC: IEA); GO_0051216 (EC: IEA); GO_0060021 (EC: IEA); GO_0071310 (EC: IEA) PMID: 10470851; 10964520; 12477932; 12915443; 14701874; 14702039; 15489334; 16327884; 16953426; 17377962; 18029348; 18333962; 19322201; 19668335; 19937600; 20228799; 20308991; 20634891; 20829881; 21343628; 21677534; 21890473; 21965674; 22570222; 22815795; 22825848; 23728906; 23925499; 23966867 SATB homeobox 2 Other designations: DNA-binding protein SATB2|SATB family member 2|special AT-rich sequence-binding protein 2 SATB2 Bin Zhao, Yue Liu, Oliver He RIG-I RIGI RLR-1 WEB: http://www.ncbi.nlm.nih.gov/gene DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 23586 RP11-334P12.2 9p12 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0002230 (EC: IMP, PMID: 19609254); GO_0003690 (EC: IEA); GO_0003725 (EC: IDA, PMID: 19576794); GO_0003725 (EC: IMP, PMID: 19211564); GO_0003725 (EC: TAS, PMID: 17079289); GO_0003727 (EC: IMP, PMID: 19211564); GO_0005515 (EC: IPI, PMID: 16127453); GO_0005524 (EC: IEA); GO_0005737 (EC: IDA); GO_0005829 (EC: TAS); GO_0005923 (EC: IDA, PMID: 19122199); GO_0008026 (EC: IEA); GO_0008270 (EC: IDA, PMID: 18243112); GO_0009597 (EC: IDA, PMID: 17079289); GO_0009615 (EC: TAS); GO_0015629 (EC: IDA, PMID: 19122199); GO_0016032 (EC: IEA); GO_0030334 (EC: IDA, PMID: 19122199); GO_0032480 (EC: TAS); GO_0032587 (EC: IDA, PMID: 19122199); GO_0032727 (EC: IDA, PMID: 19576794); GO_0032727 (EC: IMP, PMID: 19609254); GO_0032728 (EC: IDA, PMID: 17079289); GO_0032728 (EC: IMP, PMID: 19211564); GO_0034344 (EC: TAS); GO_0039528 (EC: TAS); GO_0039529 (EC: IMP, PMID: 19211564); GO_0042802 (EC: IPI); GO_0042993 (EC: IDA, PMID: 17079289); GO_0043330 (EC: IEA); GO_0045087 (EC: IMP, PMID: 19609254); GO_0045087 (EC: TAS); GO_0045944 (EC: IDA, PMID: 17079289); GO_0051091 (EC: IC, PMID: 17079289) PMID: 11002417; 11890704; 12477932; 14702039; 15164053; 15181474; 15208624; 15219805; 15297736; 15370293; 15612946; 15708988; 15737993; 15767399; 16009940; 16116171; 16125763; 16127453; 16153868; 16177806; 16182584; 16188996; 16281057; 16306043; 16585524; 16707574; 16797201; 16946700; 17038589; 17038590; 17053203; 17079289; 17093192; 17182220; 17190814; 17307033; 17392790; 17403696; 17516545; 17541283; 17600090; 17719635; 17878351; 17911629; 18021446; 18214119; 18242112; 18243112; 18250407; 18258269; 18268020; 18428149; 18446221; 18550535; 18617992; 18632970; 18635538; 18636086; 18650396; 18684960; 18724357; 18849341; 18948594; 18977754; 18981155; 19017631; 19044019; 19122199; 19154402; 19164550; 19193793; 19201382; 19211564; 19234166; 19324880; 19374188; 19374189; 19419966; 19454348; 19454678; 19478455; 19484123; 19574455; 19576794; 19591957; 19609254; 19615405; 19620789; 19628239; 19628240; 19631370; 19675569; 19846522; 19859543; 19881509; 19890046; 19893624; 19902255; 19922606; 19948350; 19996094; 20001730; 20007272; 20034464; 20042593; 20071582; 20130065; 20144762; 20167631; 20331378; 20400512; 20403326; 20406818; 20410276; 20434986; 20484300; 20492658; 20511549; 20519382; 20581823; 20595247; 20639488; 20805493; 20818395; 20926691; 21068236; 21084468; 21113677; 21187441; 21203974; 21224412; 21233210; 21245912; 21248047; 21288362; 21292167; 21336305; 21501829; 21632559; 21659521; 21690088; 21691053; 21695051; 21811588; 21835791; 21890623; 21899695; 21903422; 21906983; 21910972; 21947008; 21971670; 21978001; 21979817; 22000018; 22000019; 22020100; 22022264; 22067459; 22114345; 22235281; 22301134; 22301138; 22328336; 22402283; 22430200; 22504413; 22607805; 22629479; 22705106; 22745133; 22776165; 22787226; 22862800; 22908223; 22911572; 22912574; 22915805; 22992810; 23000965; 23055530; 23056170; 23060457; 23063562; 23118418; 23185463; 23209422; 23262976; 23264040; 23284052; 23325848; 23333445; 23388719; 23399697; 23434273; 23498958; 23499489; 23592984; 23611287; 23653683; 23671710; 23684307; 23744645; 23772026; 23843640; 23870315; 23950712; 24334410; 24360797; 24391215 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 Ensembl:ENSG00000107201 HGNC:19102 HPRD:13131 MIM:609631 Vega:OTTHUMG00000019746 Other designations: DEAD box protein 58|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide|RIG-1|RIG-I-like receptor 1|RNA helicase RIG-I|probable ATP-dependent RNA helicase DDX58|retinoic acid inducible gene I|retinoic acid-inducible gene 1 protein|retinoic acid-inducible gene I protein DDX58 Bin Zhao, Yue Liu, Oliver He CMS WEB: http://www.ncbi.nlm.nih.gov/gene CD2AP CD2-associated protein 23607 6p12 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0001726 (EC: IDA, PMID: 10339567); GO_0005172 (EC: IEA); GO_0005200 (EC: TAS, PMID: 10339567); GO_0005515 (EC: IPI, PMID: 10339567); GO_0005737 (EC: TAS, PMID: 10339567); GO_0005886 (EC: IEA); GO_0006461 (EC: TAS, PMID: 10339567); GO_0006930 (EC: TAS, PMID: 10339567); GO_0007067 (EC: IEA); GO_0007165 (EC: NAS, PMID: 10339567); GO_0008013 (EC: IEA); GO_0008022 (EC: IEA); GO_0015629 (EC: TAS, PMID: 10339567); GO_0016050 (EC: IEA); GO_0016337 (EC: IEA); GO_0017124 (EC: IPI, PMID: 10339567); GO_0030139 (EC: IEA); GO_0031941 (EC: IDA, PMID: 10339567); GO_0032403 (EC: IEA); GO_0043161 (EC: IEA); GO_0045296 (EC: IEA); GO_0048259 (EC: IEA); GO_0048471 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 8889548; 9741631; 10339567; 10913159; 10997929; 11067845; 11733557; 12029088; 12477932; 12530983; 12559036; 12618476; 12672817; 12690097; 12764198; 14679214; 14736876; 15128873; 15489334; 15592455; 15659563; 15800069; 16344560; 16678097; 16707503; 16895919; 17020880; 17072306; 17081983; 17188587; 17283187; 17428861; 17474147; 17606992; 17713465; 17823309; 17853893; 17922258; 18029348; 18396147; 18654987; 18753381; 18791326; 19056867; 19131354; 19380743; 19738201; 19945749; 19956976; 20360068; 20379614; 20404345; 20457601; 20515931; 20654576; 20697350; 21460840; 21460841; 21519904; 21655212; 21706016; 21822214; 21890473; 21911934; 21963094; 21988832; 22412018; 22623428; 22706086; 22745667; 22863883; 22880102; 22939629; 23279575; 24039852; 24167568; 24322428 CD2-associated protein Ensembl:ENSG00000198087 HGNC:14258 HPRD:05026 MIM:604241 Vega:OTTHUMG00000014799 Other designations: Cas ligand with multiple Src homology 3 (SH3) domains|adapter protein CMS|cas ligand with multiple SH3 domains CD2AP Bin Zhao, Yue Liu, Oliver He HAVCR HAVCR-1 KIM-1 KIM1 TIM TIM-1 TIM1 TIMD-1 TIMD1 WEB: http://www.ncbi.nlm.nih.gov/gene HAVCR1 hepatitis A virus cellular receptor 1 26762 5q33.2 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0001618 (EC: IEA); GO_0016021 (EC: IEA); GO_0016032 (EC: IEA) PMID: 9557657; 9658108; 11725301; 12138159; 12477932; 12618867; 12893810; 14534576; 14630400; 14637143; 15007635; 15086915; 15300647; 15489334; 15867855; 16344560; 16481347; 16713569; 16940744; 17117951; 17205356; 17229699; 17371991; 17570927; 17703412; 18052965; 18082433; 18165774; 18273441; 18294362; 18453570; 18466531; 18715847; 18769021; 18802347; 19060906; 19167431; 19173034; 19247692; 19258923; 19264973; 19387469; 19424017; 19476019; 19480659; 19494522; 19522876; 19572801; 20070602; 20232767; 20233133; 20237496; 20304168; 20331378; 20388397; 20447817; 20479636; 20503287; 20549518; 20571754; 20686565; 20819195; 20972250; 20980978; 21339644; 21367814; 21378325; 21402675; 21412435; 21467131; 21513984; 21536871; 21723753; 21996225; 22080624; 22190394; 22290466; 22484054; 22495365; 22515481; 22709877; 22710823; 22749388; 22857392; 22984472; 23026578; 23135864; 23220501; 23233528; 23267147; 23352434; 23435265; 23505323; 23599408; 23673972; 23698310; 23936859; 23964107; 24158981; 24286866; 24321290 hepatitis A virus cellular receptor 1 Ensembl:ENSG00000113249 HGNC:17866 HPRD:09404 MIM:606518 Vega:OTTHUMG00000163466 Other designations: T cell immunoglobin domain and mucin domain protein 1|T-cell immunoglobulin mucin family member 1|T-cell immunoglobulin mucin receptor 1|T-cell membrane protein 1|kidney injury molecule 1 HAVCR1 Bin Zhao, Yue Liu, Oliver He CD208 DC LAMP DC-LAMP DCLAMP LAMP LAMP-3 TSC403 WEB: http://www.ncbi.nlm.nih.gov/gene LAMP3 lysosomal-associated membrane protein 3 27074 3q26.3-q27 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0002376 (EC: IEA); GO_0005765 (EC: IEA); GO_0008283 (EC: TAS, PMID: 9721848); GO_0016021 (EC: IEA); GO_0097233 (EC: IEA) PMID: 9721848; 9768752; 12477932; 15111122; 15489334; 16204031; 16344560; 16887987; 17056097; 17554300; 17606713; 18292234; 19308021; 19335688; 19913121; 20414141; 20628086; 20863830; 21254220; 21292315; 21319150; 21596034; 21738487; 21810281; 21988832; 22809326; 23569139; 23651994; 23876802 lysosomal-associated membrane protein 3 Ensembl:ENSG00000078081 HGNC:14582 HPRD:12062 MIM:605883 Vega:OTTHUMG00000158387 Other designations: DC-lysosome-associated membrane glycoprotein|lysosome-associated membrane glycoprotein 3 LAMP3 Bin Zhao, Yue Liu, Oliver He REIC RIG WEB: http://www.ncbi.nlm.nih.gov/gene DKK3 dickkopf WNT signaling pathway inhibitor 3 27122 UNQ258/PRO295 11p15.2 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0005615 (EC: TAS, PMID: 10570958); GO_0009653 (EC: TAS, PMID: 10570958); GO_0016055 (EC: IEA); GO_0030325 (EC: IEP, PMID: 12844346); GO_0032348 (EC: IDA, PMID: 16981135); GO_0045892 (EC: IDA, PMID: 16981135); GO_0090090 (EC: IDA, PMID: 12857724); GO_2000065 (EC: IDA, PMID: 16981135) PMID: 8125298; 8619474; 9070656; 9110174; 10570958; 10652205; 11814687; 12477932; 12527209; 12844346; 12857724; 12975309; 14702039; 14767340; 15087387; 15226763; 15340161; 15489334; 15516983; 15998302; 16568085; 16609023; 16712791; 16713569; 16751809; 16981135; 17347849; 18033687; 18048388; 18059033; 18247400; 18443132; 18461655; 18654608; 18826564; 18922905; 19003969; 19051296; 19192722; 19279003; 19437037; 19453261; 19457090; 19493271; 19496188; 19562778; 19570204; 19859801; 20050020; 20379614; 20514419; 20532910; 20616171; 20627041; 20666943; 20811686; 20978717; 21042718; 21042779; 21323747; 21572098; 21796614; 21796842; 21835165; 21879258; 21932035; 21987623; 22071168; 22076283; 22274868; 22421143; 22473694; 22529687; 22555103; 22589738; 23006423; 23154266; 23354949; 23529184; 23538390; 23702469; 23765731; 23934736 dickkopf WNT signaling pathway inhibitor 3 Ensembl:ENSG00000050165 HGNC:2893 HPRD:05659 MIM:605416 Vega:OTTHUMG00000165709 Other designations: RIG-like 5-6|RIG-like 7-1|dickkopf 3 homolog|dickkopf homolog 3|dickkopf-3|dickkopf-related protein 3|dkk-3|hDkk-3|regulated in glioma DKK3 Bin Zhao, Yue Liu, Oliver He ZNF796 WEB: http://www.ncbi.nlm.nih.gov/gene SALL3 spalt-like transcription factor 3 27164 18q23 20140408 9606 18 protein-coding Official from a nomenclature committee GO_0003677 (EC: IEA); GO_0005634 (EC: IEA); GO_0006351 (EC: IEA); GO_0006355 (EC: IEA); GO_0021891 (EC: IEA); GO_0035136 (EC: IEA); GO_0035137 (EC: IEA); GO_0045879 (EC: IEA); GO_0046872 (EC: IEA) PMID: 10610715; 12477932; 16545361; 18029348; 18668548; 19139273; 19247946; 20634891; 21532573; 21890473; 22589738; 22690083; 23535732 spalt-like transcription factor 3 HGNC:10527 HPRD:05467 MIM:605079 Other designations: C2H2 zinc finger protein SALL3|hSALL3|sal-like protein 3|spalt-like zinc finger protein|zinc finger protein 796 SALL3 Bin Zhao, Yue Liu, Oliver He CDH7 CDH7L2 WEB: http://www.ncbi.nlm.nih.gov/gene CDH19 cadherin 19, type 2 28513 UNQ478/PRO941 18q22.1 20140408 9606 18 protein-coding Official from a nomenclature committee GO_0005509 (EC: IEA); GO_0005886 (EC: IEA); GO_0007156 (EC: IEA); GO_0016021 (EC: IEA) PMID: 7566098; 9615235; 10861224; 10995570; 12118382; 12477932; 12975309; 18184143; 18364357; 20358601 cadherin 19, type 2 Ensembl:ENSG00000071991 HGNC:1758 HPRD:04311 MIM:603016 Vega:OTTHUMG00000132802 Other designations: cadherin-19 CDH19 Bin Zhao, Yue Liu, Oliver He AGM4 BASH BLNK-S LY57 SLP-65 SLP65 bca WEB: http://www.ncbi.nlm.nih.gov/gene BLNK B-cell linker 29760 10q23.2-q23.33 20140408 9606 10 protein-coding Official from a nomenclature committee GO_0005068 (EC: TAS, PMID: 9697839); GO_0005070 (EC: IDA, PMID: 9697839); GO_0005070 (EC: RCA, PMID: 19641626); GO_0005515 (EC: IPI, PMID: 16912232); GO_0005622 (EC: NAS, PMID: 9341187); GO_0005829 (EC: TAS); GO_0005886 (EC: TAS); GO_0006954 (EC: TAS, PMID: 9697839); GO_0006959 (EC: TAS, PMID: 9697839); GO_0007169 (EC: TAS, PMID: 9697839); GO_0009967 (EC: IDA, PMID: 9697839); GO_0009967 (EC: RCA, PMID: 19641626); GO_0030183 (EC: NAS, PMID: 10583958); GO_0035556 (EC: IDA, PMID: 9341187) PMID: 8125298; 9341187; 9697839; 9705962; 10498607; 10556826; 10583958; 10684856; 10820378; 10903736; 10981967; 11071869; 11274146; 11356834; 11449366; 11487585; 11489945; 11514608; 11909947; 12093870; 12176364; 12456653; 12477932; 12496419; 12514734; 12761551; 12773374; 14702039; 15087455; 15270728; 15489334; 15588985; 15744341; 16273093; 16341674; 16344560; 16356554; 16385451; 16568084; 16636677; 16912232; 16969585; 17681949; 18022864; 19018766; 19218240; 19372136; 19641626; 20237496; 20379614; 21048031; 21482705; 21822214; 22262777; 22689681; 24166973 B-cell linker Ensembl:ENSG00000095585 HGNC:14211 HPRD:05153 MIM:604515 Vega:OTTHUMG00000018827 Other designations: B cell adaptor containing SH2 domain|B cell linker protein|B-cell activation|B-cell adapter containing a SH2 domain protein|B-cell adapter containing a Src homology 2 domain protein|B-cell linker protein|Src homology 2 domain-containing leukocyte protein of 65 kDa|Src homology [SH2] domain-containing leukocyte protein of 65 kD|cytoplasmic adapter protein BLNK Bin Zhao, Yue Liu, Oliver He T-PET T-bet TBET TBLYM WEB: http://www.ncbi.nlm.nih.gov/gene TBX21 T-box 21 30009 17q21.32 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0003700 (EC: TAS, PMID: 10761931); GO_0005634 (EC: IEA); GO_0006351 (EC: IEA); GO_0006355 (EC: TAS, PMID: 10761931); GO_0007275 (EC: TAS, PMID: 10761931); GO_0009615 (EC: IEP); GO_0030217 (EC: IEA); GO_0043025 (EC: IEA); GO_0044212 (EC: IDA, PMID: 19805038); GO_0045893 (EC: IDA, PMID: 19805038); GO_0048304 (EC: IEA); GO_0072676 (EC: IDA, PMID: 19805038) PMID: 8125298; 10761931; 11087660; 12128215; 12477932; 12938094; 12960249; 15131585; 15241679; 15248849; 15489334; 15604153; 15632006; 15684083; 15712176; 15737643; 15806396; 15860546; 15927679; 16179640; 16210653; 16273099; 16434488; 16487356; 16498264; 16750991; 16874959; 17074191; 17075044; 17082665; 17117487; 17237380; 17325860; 17378728; 17445472; 17445473; 17541280; 17667540; 17703412; 17705132; 17949803; 17993020; 18212358; 18300036; 18414429; 18504404; 18504423; 18619618; 18753235; 18840707; 19168793; 19176008; 19234223; 19258923; 19269192; 19287198; 19298946; 19307156; 19336263; 19348920; 19362357; 19362685; 19473434; 19535634; 19615257; 19639723; 19691533; 19692128; 19757302; 19805038; 19818655; 19861286; 19879772; 19915058; 19923468; 19950257; 20056084; 20175803; 20193034; 20211142; 20237292; 20333526; 20429676; 20503287; 20634891; 20675595; 20713880; 20855629; 20974984; 20977921; 21055151; 21114556; 21177324; 21239533; 21272048; 21289214; 21289310; 21468546; 21642544; 21780995; 21988832; 22014209; 22133489; 22190364; 22258560; 22261438; 22303482; 22336257; 22391183; 22416188; 22430437; 22490682; 22513824; 22521571; 23095752; 23243425; 23308012; 23334427; 23413906; 23440501; 23455505; 23479229; 23608226 T-box 21 Ensembl:ENSG00000073861 HGNC:11599 HPRD:05355 MIM:604895 Vega:OTTHUMG00000178287 Other designations: T-box expressed in T cells|T-box protein 21|T-box transcription factor TBX21|T-cell-specific T-box transcription factor T-bet|transcription factor TBLYM TBX21 Bin Zhao, Yue Liu, Oliver He CDSIGN CLEC4L DC-SIGN DC-SIGN1 WEB: http://www.ncbi.nlm.nih.gov/gene CD209 CD209 molecule 30835 19p13 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0005537 (EC: TAS, PMID: 1518869); GO_0005576 (EC: IEA); GO_0005737 (EC: NAS, PMID: 11337487); GO_0005886 (EC: IEA); GO_0006897 (EC: IEA); GO_0007157 (EC: TAS, PMID: 1518869); GO_0007159 (EC: NAS, PMID: 11337487); GO_0009988 (EC: TAS, PMID: 11337487); GO_0016020 (EC: TAS, PMID: 1518869); GO_0016021 (EC: IEA); GO_0019048 (EC: TAS, PMID: 11337487); GO_0019062 (EC: TAS, PMID: 11337487); GO_0019079 (EC: NAS, PMID: 11337487); GO_0019882 (EC: NAS, PMID: 11337487); GO_0030246 (EC: NAS, PMID: 11337487); GO_0035556 (EC: NAS, PMID: 11337487); GO_0042129 (EC: IDA, PMID: 12456590); GO_0042605 (EC: NAS, PMID: 11337487); GO_0045087 (EC: IEA); GO_0046790 (EC: TAS, PMID: 11337487); GO_0046872 (EC: IEA); GO_0046968 (EC: NAS, PMID: 11337487); GO_0075733 (EC: TAS, PMID: 11337487) PMID: 1518869; 1602151; 10721994; 10721995; 10975799; 11017109; 11257134; 11337487; 11384997; 11588046; 11711593; 11739956; 11745695; 11799126; 11799181; 11825572; 11825573; 11859097; 11884427; 12021323; 12050176; 12050398; 12083838; 12097593; 12122001; 12176900; 12223058; 12239306; 12352970; 12433371; 12438611; 12456590; 12477932; 12496255; 12502850; 12515809; 12515819; 12571844; 12574325; 12594843; 12598322; 12626400; 12634366; 12645952; 12692233; 12783086; 12797442; 12836198; 12941144; 12949494; 12960229; 12960240; 14519388; 14576049; 14603101; 14707095; 14709546; 14963164; 14970226; 15043214; 15111305; 15184372; 15208262; 15210758; 15215692; 15222882; 15254204; 15319853; 15371595; 15385553; 15452205; 15494514; 15509576; 15518824; 15545354; 15564514; 15572157; 15638726; 15709021; 15728245; 15752559; 15838506; 15838793; 15845642; 15855154; 15880118; 16051608; 16061998; 16092920; 16099912; 16155001; 16177066; 16246332; 16252244; 16274635; 16365436; 16379498; 16386217; 16420576; 16424204; 16439540; 16454711; 16469696; 16501104; 16547227; 16611055; 16641270; 16672549; 16698431; 16797773; 16807379; 16817962; 16839201; 16865785; 16883544; 16940507; 17001080; 17005819; 17010165; 17041212; 17055357; 17055489; 17056872; 17077296; 17083721; 17145745; 17151103; 17151939; 17182696; 17202372; 17263871; 17296787; 17312166; 17452477; 17462920; 17496896; 17509452; 17522223; 17530994; 17530998; 17611589; 17632570; 17659761; 17703412; 17715238; 17876530; 17913809; 17940955; 17962491; 18040049; 18070336; 18073208; 18076668; 18078989; 18080533; 18082570; 18083206; 18155766; 18167547; 18171520; 18255039; 18270264; 18285492; 18292560; 18310320; 18318050; 18337571; 18337829; 18353434; 18354216; 18371209; 18375037; 18405996; 18424363; 18453604; 18458800; 18473783; 18510454; 18524826; 18597806; 18641344; 18697825; 18772280; 18775666; 18796707; 18802490; 18827881; 18848918; 19020832; 19046307; 19054934; 19126442; 19193785; 19230080; 19237024; 19249311; 19258923; 19264667; 19273246; 19282435; 19386588; 19406479; 19423540; 19426593; 19460752; 19502234; 19567623; 19681073; 19682628; 19692463; 19718030; 19773555; 19785948; 19803376; 19818504; 19828628; 19833723; 19851890; 19879650; 19892432; 19942750; 19958673; 20034698; 20080962; 20170964; 20212510; 20217198; 20304457; 20331378; 20359516; 20362001; 20364151; 20404846; 20406303; 20406964; 20438785; 20470843; 20484510; 20503287; 20588308; 20594957; 20630938; 20713631; 20829290; 20854332; 20864747; 20924289; 20932025; 20940323; 21067616; 21078343; 21081145; 21142800; 21179465; 21191006; 21239715; 21245921; 21277928; 21381282; 21386960; 21471959; 21515679; 21540232; 21562048; 21562123; 21596034; 21704100; 21743322; 21785785; 21792086; 21860028; 21922073; 21957147; 21994702; 22013110; 22027159; 22045343; 22061615; 22086389; 22090124; 22091217; 22102941; 22103833; 22156524; 22163292; 22169718; 22175768; 22205703; 22257062; 22292921; 22338216; 22384201; 22396536; 22433013; 22470838; 22553928; 22629172; 22645128; 22653683; 22664939; 22675249; 22687513; 22700724; 22808239; 22842622; 22902397; 22911807; 22934658; 23019323; 23124109; 23294711; 23388721; 23416198; 23424649; 23460925; 23527139; 23569139; 23624202; 23627732; 23697368; 23840690; 23966408; 24183720 CD209 molecule Ensembl:ENSG00000090659 HGNC:1641 HPRD:05241 MIM:604672 Vega:OTTHUMG00000182530 Other designations: C-type lectin domain family 4 member L|C-type lectin domain family 4, member L|CD209 antigen|HIV gpl20-binding protein|dendritic cell-specific ICAM-3-grabbing non-integrin 1|dendritic cell-specific intracellular adhesion molecules (ICAM)-3 grabbing non-integrin CD209 Bin Zhao, Yue Liu, Oliver He PAST3 WEB: http://www.ncbi.nlm.nih.gov/gene EHD3 EH-domain containing 3 30845 2p21 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0003676 (EC: TAS, PMID: 10673336); GO_0003924 (EC: IEA); GO_0005509 (EC: IEA); GO_0005515 (EC: IPI, PMID: 17233914); GO_0005524 (EC: IEA); GO_0005525 (EC: IEA); GO_0005634 (EC: TAS, PMID: 10673336); GO_0005737 (EC: ISS); GO_0005886 (EC: IEA); GO_0007596 (EC: TAS); GO_0010008 (EC: TAS); GO_0030139 (EC: IEA); GO_0032456 (EC: IDA, PMID: 17233914); GO_0048471 (EC: IEA); GO_0051260 (EC: IPI, PMID: 17233914); GO_0055038 (EC: IDA, PMID: 17233914); GO_0072661 (EC: IGI); GO_0086036 (EC: IGI) PMID: 10673336; 11423532; 12121420; 12477932; 12665801; 15020713; 15489334; 16251358; 16344560; 17233914; 17507647; 19139087; 19820697; 20489164; 21906983; 22139419; 22337703; 22406195; 22675492; 24019528; 24026423 EH-domain containing 3 HGNC:3244 HPRD:16170 MIM:605891 Other designations: EH domain containing 3|EH domain-containing protein 3|PAST homolog 3 EHD3 Bin Zhao, Yue Liu, Oliver He AIID DIETER IPEX PIDX XPID WEB: http://www.ncbi.nlm.nih.gov/gene FOXP3 forkhead box P3 50943 JM2 Xp11.23 20140408 9606 X protein-coding Official from a nomenclature committee GO_0001782 (EC: IBA); GO_0001816 (EC: IEA); GO_0002053 (EC: IBA, Qualifier: NOT); GO_0002262 (EC: IBA); GO_0002329 (EC: IBA); GO_0002361 (EC: IEA); GO_0002456 (EC: IEA); GO_0002513 (EC: IBA); GO_0002639 (EC: IBA); GO_0002669 (EC: IBA); GO_0002677 (EC: IBA); GO_0002725 (EC: IDA, PMID: 15466453); GO_0002851 (EC: IBA); GO_0003682 (EC: IBA); GO_0003700 (EC: IDA, PMID: 11483607); GO_0003700 (EC: NAS, PMID: 11138001); GO_0003705 (EC: IEA); GO_0003714 (EC: IBA); GO_0005515 (EC: IPI, PMID: 16652169); GO_0005634 (EC: IDA, PMID: 11483607); GO_0005634 (EC: NAS, PMID: 16903909); GO_0005737 (EC: IEA); GO_0005737 (EC: NAS, PMID: 16903909); GO_0006338 (EC: NAS, PMID: 16903909); GO_0006355 (EC: NAS, PMID: 11138001); GO_0007389 (EC: IBA); GO_0007519 (EC: IBA, Qualifier: NOT); GO_0008285 (EC: IDA, PMID: 15652505); GO_0008301 (EC: IBA); GO_0009615 (EC: IEP); GO_0009790 (EC: IBA); GO_0030324 (EC: IBA); GO_0031064 (EC: IGI, PMID: 19276356); GO_0032088 (EC: IDA, PMID: 16652169); GO_0032689 (EC: IDA, PMID: 15466453); GO_0032693 (EC: IDA, PMID: 15466453); GO_0032703 (EC: IDA, PMID: 15466453); GO_0032713 (EC: IDA, PMID: 15466453); GO_0032714 (EC: IBA); GO_0032715 (EC: IBA); GO_0032720 (EC: IBA); GO_0032753 (EC: IEA); GO_0032792 (EC: IDA, PMID: 16652169); GO_0032831 (EC: IBA); GO_0032914 (EC: IBA); GO_0033092 (EC: IBA); GO_0033152 (EC: IBA); GO_0035035 (EC: IPI, PMID: 17360565); GO_0035066 (EC: IMP, PMID: 19276356); GO_0035067 (EC: IBA); GO_0042036 (EC: IDA, PMID: 11483607); GO_0042110 (EC: IDA, PMID: 15466453); GO_0042130 (EC: IDA, PMID: 15466453); GO_0042803 (EC: IPI, PMID: 16920951); GO_0042826 (EC: IPI, PMID: 17360565); GO_0043029 (EC: NAS, PMID: 11483607); GO_0043234 (EC: NAS, PMID: 16903909); GO_0043433 (EC: IDA, PMID: 16873067); GO_0043565 (EC: IDA, PMID: 11483607); GO_0045077 (EC: IBA); GO_0045085 (EC: IMP, PMID: 16873067); GO_0045892 (EC: IDA, PMID: 11483607); GO_0045893 (EC: IDA, PMID: 15466453); GO_0045893 (EC: IMP, PMID: 19276356); GO_0045893 (EC: ISS); GO_0045944 (EC: IMP, PMID: 19276356); GO_0046007 (EC: NAS, PMID: 11483607); GO_0046872 (EC: IEA); GO_0046982 (EC: IBA); GO_0048294 (EC: IBA); GO_0048302 (EC: IBA); GO_0048745 (EC: IBA, Qualifier: NOT); GO_0050679 (EC: IBA); GO_0050710 (EC: IDA, PMID: 11483607); GO_0050777 (EC: IDA, PMID: 15652505); GO_0050852 (EC: IBA); GO_0051059 (EC: NAS, PMID: 16652169); GO_0051525 (EC: IPI, PMID: 16873067); GO_0055007 (EC: IBA) PMID: 8889548; 10677306; 11076863; 11120765; 11137992; 11137993; 11138001; 11483607; 11768393; 12296863; 12477932; 12750858; 14597769; 14671208; 14997560; 15100250; 15172973; 15220219; 15246158; 15374887; 15466453; 15489334; 15620457; 15652505; 15674359; 15772651; 15790681; 15952173; 15972448; 16003241; 16091206; 16211090; 16278306; 16322292; 16339542; 16339919; 16344560; 16368541; 16410445; 16493082; 16517728; 16551363; 16557241; 16574699; 16583400; 16596204; 16617117; 16645171; 16652169; 16652285; 16728694; 16741580; 16764698; 16818738; 16825494; 16873067; 16881731; 16901927; 16903909; 16920951; 16955142; 16956389; 16996248; 17028180; 17033038; 17154262; 17161353; 17175222; 17183612; 17216339; 17230494; 17262084; 17286616; 17289884; 17299718; 17309822; 17311282; 17327427; 17329235; 17360565; 17377532; 17378693; 17389235; 17393103; 17414320; 17414718; 17418529; 17445472; 17463169; 17508019; 17526924; 17565321; 17570480; 17574040; 17589345; 17612516; 17615291; 17641056; 17644307; 17666212; 17694575; 17703412; 17706604; 17712427; 17712989; 17712998; 17713426; 17804750; 17851585; 17878390; 17903368; 17916446; 17921346; 17932340; 17954183; 17970785; 17975141; 18008005; 18024321; 18034969; 18047933; 18089323; 18092263; 18155891; 18156149; 18162042; 18171284; 18173798; 18178814; 18231910; 18240282; 18246047; 18261176; 18270250; 18270368; 18279718; 18286169; 18294387; 18304876; 18317533; 18324310; 18331599; 18354202; 18368049; 18394345; 18395862; 18412171; 18413409; 18413770; 18424697; 18430198; 18434325; 18496979; 18510637; 18510697; 18533240; 18544681; 18579608; 18606654; 18628982; 18641303; 18641304; 18665940; 18667728; 18681861; 18690669; 18769452; 18794055; 18802341; 18818377; 18825388; 18829063; 18836525; 18844067; 18924611; 18931102; 18941119; 18951619; 18973208; 19022313; 19034005; 19039775; 19085184; 19089920; 19096978; 19104431; 19108017; 19111574; 19120312; 19124747; 19125672; 19132983; 19136904; 19141582; 19150256; 19155519; 19168733; 19178794; 19189134; 19192224; 19199536; 19201288; 19203731; 19237575; 19242793; 19255314; 19255331; 19258923; 19264232; 19264985; 19273860; 19276356; 19283780; 19328914; 19358983; 19363449; 19364305; 19373655; 19383912; 19392991; 19394278; 19408243; 19419438; 19424039; 19439651; 19453521; 19464196; 19470254; 19481824; 19513564; 19536194; 19542249; 19545671; 19549358; 19564342; 19568423; 19569243; 19577568; 19596013; 19604349; 19614769; 19628330; 19639723; 19641188; 19641607; 19648226; 19648277; 19648312; 19650850; 19651619; 19661482; 19664391; 19666573; 19667946; 19673890; 19674197; 19679154; 19696312; 19703716; 19714314; 19727215; 19738030; 19739430; 19751272; 19752528; 19779259; 19787238; 19798683; 19800578; 19808652; 19845758; 19849846; 19856313; 19875613; 19880293; 19900711; 19900843; 19902430; 19917773; 19940860; 19941313; 19952070; 19953886; 19956618; 19957514; 19958642; 19996091; 19996930; 20005366; 20015215; 20028375; 20032994; 20075077; 20087581; 20100010; 20109747; 20142839; 20147963; 20150173; 20209161; 20224778; 20229175; 20237496; 20301297; 20306312; 20306694; 20346216; 20398921; 20403730; 20404810; 20412707; 20412712; 20416210; 20427269; 20427770; 20450585; 20462637; 20476861; 20477811; 20487644; 20498355; 20498359; 20503287; 20522244; 20537998; 20554955; 20599261; 20633650; 20654176; 20668701; 20676092; 20677152; 20677925; 20688398; 20701086; 20709600; 20726328; 20729906; 20842625; 20880066; 20886106; 20920773; 20930173; 20933283; 20942809; 20943459; 20952660; 20967272; 21034673; 21059286; 21070367; 21078762; 21085187; 21085635; 21091665; 21107665; 21114556; 21178008; 21209284; 21249500; 21255537; 21255538; 21266832; 21268019; 21278236; 21285410; 21317396; 21352381; 21357259; 21376048; 21381018; 21381020; 21400500; 21423069; 21436647; 21437244; 21447271; 21458306; 21472440; 21481380; 21489307; 21489891; 21490927; 21496382; 21499129; 21533107; 21558402; 21570917; 21607944; 21617226; 21618521; 21642545; 21654831; 21654845; 21670722; 21674673; 21684226; 21693260; 21696363; 21696572; 21708895; 21719077; 21719142; 21726337; 21741320; 21743493; 21746966; 21763379; 21772667; 21791252; 21802372; 21818290; 21832836; 21855850; 21865090; 21876709; 21891821; 21904560; 21912510; 21926059; 21926327; 21934066; 21949691; 21955384; 21974802; 22000402; 22000667; 22007491; 22032685; 22058032; 22077067; 22079196; 22079987; 22093153; 22093989; 22118340; 22124370; 22143939; 22152480; 22155204; 22157245; 22161558; 22166628; 22210907; 22214248; 22239151; 22264504; 22287403; 22308996; 22310634; 22312127; 22321351; 22332874; 22341374; 22372921; 22389297; 22391183; 22419479; 22425700; 22431701; 22435141; 22444300; 22446942; 22446965; 22447883; 22491736; 22506043; 22515293; 22529297; 22541024; 22547705; 22569001; 22672991; 22678915; 22696687; 22749378; 22809231; 22813742; 22836044; 22884069; 22949100; 22977658; 22986453; 22988034; 22992221; 23039885; 23098499; 23124877; 23125413; 23129754; 23158993; 23161436; 23161469; 23169781; 23178569; 23182477; 23201402; 23202541; 23211717; 23223135; 23228687; 23244505; 23260754; 23264341; 23266046; 23282736; 23291488; 23297791; 23313429; 23320781; 23340699; 23341929; 23355538; 23359504; 23361571; 23363776; 23378296; 23382847; 23395819; 23396208; 23417677; 23418928; 23438049; 23450493; 23459079; 23483489; 23490285; 23498308; 23521883; 23543754; 23560055; 23562195; 23566804; 23588145; 23640423; 23644754; 23707908; 23712790; 23735638; 23747721; 23759077; 23760912; 23773924; 23797717; 23829892; 23888189; 23910692; 23911408; 23948758; 23973223; 23974203; 24035934; 24127318; 24315995; 24316592 forkhead box P3 Ensembl:ENSG00000049768 HGNC:6106 HPRD:02242 MIM:300292 Vega:OTTHUMG00000024135 Other designations: FOXP3delta7|forkhead box protein P3|immune dysregulation, polyendocrinopathy, enteropathy, X-linked|immunodeficiency, polyendocrinopathy, enteropathy, X-linked|scurfin FOXP3 Bin Zhao, Yue Liu, Oliver He CDD VBCH WEB: http://www.ncbi.nlm.nih.gov/gene SOST sclerostin 50964 UNQ2976/PRO7455/PRO7476 17q11.2 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0001503 (EC: IEA); GO_0005515 (EC: IPI, PMID: 15908424); GO_0005578 (EC: IEA); GO_0005615 (EC: IEA); GO_0005794 (EC: IEA); GO_0008134 (EC: IDA, PMID: 17696759); GO_0008201 (EC: IEA); GO_0009612 (EC: IEP); GO_0016055 (EC: IEA); GO_0030279 (EC: NAS, PMID: 11181578); GO_0030514 (EC: IDA, PMID: 14633986); GO_0031012 (EC: IDA, Qualifier: colocalizes_with); GO_0031333 (EC: IDA, PMID: 15908424); GO_0045893 (EC: IMP, PMID: 17696759); GO_0071374 (EC: IDA, PMID: 17696759); GO_0090090 (EC: IDA, PMID: 15908424); GO_2000054 (EC: IDA, PMID: 15908424) PMID: 11179006; 11181578; 11836356; 12116252; 12398949; 12477932; 12975309; 14633986; 14739291; 15024046; 15199066; 15340161; 15454089; 15489334; 15514891; 15545262; 15908424; 16123173; 16189254; 17002572; 17052975; 17185822; 17696759; 18292354; 18931653; 19072561; 19075223; 19079262; 19208630; 19371798; 19453261; 19778325; 19857121; 19877044; 19898734; 19936252; 20043874; 20156921; 20200987; 20301406; 20305005; 20336693; 20359476; 20499362; 20534768; 20554715; 20583295; 20721932; 20817762; 20951118; 20952383; 21153337; 21164019; 21221996; 21312267; 21347301; 21351148; 21441835; 21471202; 21566129; 21613383; 21667439; 21723865; 21786318; 21812027; 21890009; 21937621; 21944579; 21991382; 21994959; 22006831; 22031520; 22032557; 22032690; 22075208; 22076526; 22082361; 22151063; 22162201; 22206666; 22353552; 22364398; 22399511; 22466341; 22475109; 22504420; 22508529; 22527202; 22575440; 22579776; 22581647; 22696217; 22723594; 22728230; 22767636; 22801952; 22836717; 22844062; 22855334; 22865898; 23041840; 23079137; 23221033; 23233270; 23288857; 23296214; 23360788; 23362266; 23389587; 23408601; 23430206; 23445914; 23467116; 23505206; 23509994; 23579340; 23702386; 23737439; 23788689; 23864703; 23894157; 24074614; 24151757; 24170101; 24178795; 24187403; 24248178; 24296448 sclerostin Ensembl:ENSG00000167941 HGNC:13771 HPRD:05762 MIM:605740 Vega:OTTHUMG00000180888 SOST Bin Zhao, Yue Liu, Oliver He C32 CKLF1 CKLF2 CKLF3 CKLF4 UCK-1 WEB: http://www.ncbi.nlm.nih.gov/gene CKLF chemokine-like factor 51192 HSPC224 16q21 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0005576 (EC: IDA, PMID: 11415443); GO_0005615 (EC: IEA); GO_0008009 (EC: IDA, PMID: 11415443); GO_0008283 (EC: IDA, PMID: 11415443); GO_0016021 (EC: IDA, PMID: 11415443); GO_0030593 (EC: IDA, PMID: 11415443); GO_0032940 (EC: IDA, PMID: 11415443); GO_0048246 (EC: IDA, PMID: 11415443); GO_0048247 (EC: IDA, PMID: 11415443) PMID: 11042152; 11415443; 12183067; 12411060; 12477932; 12975309; 14672709; 15489334; 16344560; 18069042; 18294340; 18976975; 19460752; 20137403; 20237496; 20392439; 21890473; 22505724; 23253812; 23983609; 24250222 chemokine-like factor Ensembl:ENSG00000217555 HGNC:13253 HPRD:16718 Vega:OTTHUMG00000137504 Other designations: chemokine-like factor 1|chemokine-like factor 2|chemokine-like factor 3|chemokine-like factor 4|transmembrane proteolipid CKLF Bin Zhao, Yue Liu, Oliver He MEDA-7 PACAP pERp1 WEB: http://www.ncbi.nlm.nih.gov/gene MZB1 marginal zone B and B1 cell-specific protein 51237 HSPC190 5q31.2 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0002642 (EC: ISS); GO_0005515 (EC: IPI, PMID: 11350957); GO_0005576 (EC: IDA); GO_0005576 (EC: IEA); GO_0005737 (EC: IDA, PMID: 11350957); GO_0005788 (EC: ISS); GO_0006915 (EC: IEA); GO_0008284 (EC: IDA); GO_0008284 (EC: IEA); GO_0030888 (EC: ISS); GO_0033622 (EC: ISS); GO_0034663 (EC: ISS); GO_0042127 (EC: ISS); GO_2001274 (EC: ISS) PMID: 11042152; 11350957; 11972030; 12477932; 12792799; 14702039; 19805154; 19805157; 21093319; 21688198; 21900206; 21906983; 22573353; 22613335; 23189934; 23434460; 24014023 marginal zone B and B1 cell-specific protein Ensembl:ENSG00000170476 HGNC:30125 HPRD:17815 MIM:609447 Vega:OTTHUMG00000163390 Other designations: HSPC190|caspase-2 binding protein|marginal zone B- and B1-cell-specific protein|mesenteric estrogen-dependent adipose 7|mesenteric oestrogen-dependent adipose gene- 7|plasma cell-induced ER protein 1|plasma cell-induced resident ER protein|plasma cell-induced resident endoplasmic reticulum protein|proapoptotic caspase adapter protein|proapoptotic caspase adaptor protein MZB1 Bin Zhao, Yue Liu, Oliver He FKBP19 WEB: http://www.ncbi.nlm.nih.gov/gene FKBP11 FK506 binding protein 11, 19 kDa 51303 UNQ336/PRO535 12q13.12 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0000413 (EC: IBA); GO_0003755 (EC: IBA); GO_0005528 (EC: IBA); GO_0006457 (EC: IEA); GO_0016020 (EC: IBA); GO_0016021 (EC: IEA); GO_0018208 (EC: IBA) PMID: 12036304; 12477932; 15489334; 16344560; 16596453; 21988832; 23749938; 24457600 FK506 binding protein 11, 19 kDa Ensembl:ENSG00000134285 HGNC:18624 HPRD:11170 MIM:610571 Vega:OTTHUMG00000170402 Other designations: 19 kDa FK506-binding protein|19 kDa FKBP|FK506-binding protein 11|FKBP-11|FKBP-19|PPIase FKBP11|peptidyl-prolyl cis-trans isomerase FKBP11|rotamase FKBP11 Bin Zhao, Yue Liu, Oliver He IL-23 IL-23A IL23P19 P19 SGRF WEB: http://www.ncbi.nlm.nih.gov/gene IL23A interleukin 23, alpha subunit p19 51561 UNQ2498/PRO5798 12q13.3 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0001916 (EC: ISS); GO_0002230 (EC: IDA, PMID: 12421946); GO_0002230 (EC: ISS); GO_0002827 (EC: IDA, PMID: 15114670); GO_0002827 (EC: ISS); GO_0002827 (EC: NAS); GO_0002827 (EC: TAS, PMID: 16751425); GO_0005125 (EC: IEA); GO_0006954 (EC: IEA); GO_0010535 (EC: IDA, PMID: 12023369); GO_0032693 (EC: IMP, PMID: 16751425); GO_0032725 (EC: IDA); GO_0032729 (EC: IDA, PMID: 11114383); GO_0032729 (EC: TAS, PMID: 19088061); GO_0032733 (EC: IDA, PMID: 15265908); GO_0032733 (EC: TAS, PMID: 18675459); GO_0032735 (EC: IDA); GO_0032740 (EC: IDA, PMID: 16482511); GO_0032760 (EC: IMP, PMID: 16751425); GO_0032816 (EC: IC); GO_0032819 (EC: IDA, PMID: 19088061); GO_0034105 (EC: IC, PMID: 16482511); GO_0042098 (EC: IEA); GO_0042102 (EC: IDA, PMID: 12023369); GO_0042104 (EC: IDA, PMID: 11114383); GO_0042346 (EC: TAS); GO_0042510 (EC: IDA, PMID: 12023369); GO_0042517 (EC: IDA, PMID: 12023369); GO_0042520 (EC: IDA, PMID: 11114383); GO_0042523 (EC: IDA, PMID: 12023369); GO_0043382 (EC: ISS); GO_0045087 (EC: IEA); GO_0045519 (EC: IDA, Qualifier: contributes_to, PMID: 11114383); GO_0045672 (EC: IDA, PMID: 17888176); GO_0045944 (EC: IEA); GO_0048771 (EC: IEA); GO_0050729 (EC: IC, PMID: 16482511); GO_0050829 (EC: IDA, PMID: 15114670); GO_0051135 (EC: IC); GO_0051135 (EC: IDA, PMID: 19088061); GO_0051142 (EC: IDA, PMID: 19088061); GO_0051607 (EC: IEA); GO_0070743 (EC: IDA, PMID: 11114383); GO_0090023 (EC: IEA); GO_2000318 (EC: ISS); GO_2000330 (EC: ISS) PMID: 8570611; 11114383; 11390512; 12023369; 12162874; 12421946; 12477932; 12525561; 12671732; 12847224; 12975309; 14707118; 15070757; 15114670; 15265908; 15486065; 15489334; 15583831; 15731058; 16300465; 16339539; 16341674; 16342235; 16424222; 16482511; 16670765; 16688182; 16751425; 16772281; 17007011; 17021762; 17182554; 17187052; 17207965; 17236132; 17564777; 17606463; 17763202; 17888176; 17945537; 18029348; 18054783; 18180107; 18190588; 18311793; 18319400; 18373953; 18408745; 18490716; 18497880; 18579762; 18606709; 18675459; 18680750; 18708069; 18752933; 18754016; 18786233; 18825388; 19034457; 19040306; 19088061; 19169254; 19201028; 19247658; 19262574; 19264456; 19322214; 19333939; 19426392; 19431078; 19479806; 19542049; 19542431; 19587005; 19605880; 19657406; 19705136; 19797506; 19845828; 19900478; 19915944; 19929695; 20027291; 20054003; 20071030; 20106535; 20154336; 20331378; 20428758; 20603238; 20624950; 20682175; 20682672; 20701979; 20840651; 20873540; 20886035; 20953190; 20956338; 21116820; 21145044; 21145111; 21161669; 21227898; 21231819; 21302302; 21387004; 21402701; 21515794; 21516111; 21518507; 21531892; 21547355; 21560441; 21576383; 21623003; 21641076; 21670317; 21740501; 21747388; 21931205; 22003203; 22127978; 22144400; 22174449; 22177788; 22209993; 22262980; 22298331; 22417709; 22505413; 22559912; 22621182; 22678234; 22683003; 22688014; 22705151; 22759859; 22851868; 22909235; 22955875; 22965992; 23050001; 23053983; 23116756; 23121980; 23250909; 23327801; 23376980; 23388728; 23393581; 23425136; 23472658; 23489789; 23563201; 23579029; 23673284; 23679818; 23755218; 23825942; 24054330; 24067979; 24144296 interleukin 23, alpha subunit p19 Ensembl:ENSG00000110944 HGNC:15488 HPRD:12026 MIM:605580 Other designations: IL-23 subunit alpha|IL-23-A|IL-23p19|JKA3 induced upon T-cell activation|interleukin 23 p19 subunit|interleukin-23 subunit alpha|interleukin-23 subunit p19|interleukin-six, G-CSF related factor IL23A Bin Zhao, Yue Liu, Oliver He NAG SOPH WEB: http://www.ncbi.nlm.nih.gov/gene NBAS neuroblastoma amplified sequence 51594 2p24 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0000956 (EC: IMP); GO_0005737 (EC: IEA); GO_2000623 (EC: IMP) PMID: 9926938; 11329013; 11954550; 12477932; 12706883; 14702039; 16169070; 17028906; 19369418; 19407829; 20360068; 20379614; 20577004; 20585324; 21139048; 21697133; 21906983; 21963094; 23828042 neuroblastoma amplified sequence Ensembl:ENSG00000151779 HGNC:15625 HPRD:10473 MIM:608025 Vega:OTTHUMG00000121153 Other designations: NAG/BC035112 fusion|NAG/FAM49A fusion|neuroblastoma-amplified gene protein|neuroblastoma-amplified sequence NBAS Bin Zhao, Yue Liu, Oliver He EMCN2 MUC14 WEB: http://www.ncbi.nlm.nih.gov/gene EMCN endomucin 51705 4q24 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0005576 (EC: IEA); GO_0005886 (EC: IEA); GO_0016021 (EC: IEA) PMID: 8125298; 11418125; 11594763; 12000719; 12087473; 12477932; 12485444; 14722670; 15249540; 15489334; 18029348; 20379614; 21159824; 21666600; 22566498 endomucin Ensembl:ENSG00000164035 HGNC:16041 HPRD:12220 MIM:608350 Vega:OTTHUMG00000131051 Other designations: MUC-14|endomucin-2|gastric cancer antigen Ga34|mucin-14 EMCN Bin Zhao, Yue Liu, Oliver He MST130 MSTP130 WEB: http://www.ncbi.nlm.nih.gov/gene CLIC5 chloride intracellular channel 5 53405 RP11-546O15.1 6p12.3 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0002024 (EC: IEA); GO_0005247 (EC: IEA); GO_0005515 (EC: IPI, PMID: 10793131); GO_0005794 (EC: IDA, PMID: 12163479); GO_0005794 (EC: IEA); GO_0005815 (EC: IEA); GO_0005938 (EC: IEA); GO_0006810 (EC: NAS, PMID: 10793131); GO_0006821 (EC: IDA, PMID: 10793131); GO_0007565 (EC: TAS, PMID: 10793131); GO_0007605 (EC: IEA); GO_0008104 (EC: IEA); GO_0015629 (EC: IDA, PMID: 10793131); GO_0032420 (EC: IEA); GO_0034707 (EC: IEA); GO_0050885 (EC: IEA); GO_0060088 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 8125298; 8889548; 10793131; 12163479; 12200217; 12477932; 14574404; 14702039; 15184393; 15342556; 15489334; 16303743; 16344560; 17021174; 17492382; 18028448; 18676988; 19056867; 19738201; 20055760; 20335315; 20379614; 20946665; 22699663; 23326517; 23602568 chloride intracellular channel 5 Ensembl:ENSG00000112782 HGNC:13517 HPRD:06292 MIM:607293 Other designations: chloride intracellular channel protein 5 CLIC5 Bin Zhao, Yue Liu, Oliver He CHIF WEB: http://www.ncbi.nlm.nih.gov/gene FXYD4 FXYD domain containing ion transport regulator 4 53828 UNQ526/PRO1069 10q11.21 20140408 9606 10 protein-coding Official from a nomenclature committee GO_0005267 (EC: IEA); GO_0005886 (EC: TAS); GO_0016021 (EC: IEA); GO_0034220 (EC: TAS); GO_0051117 (EC: IEA); GO_0055085 (EC: TAS) PMID: 10950925; 11483503; 12217851; 12477932; 12535606; 12763854; 12975309; 15164054; 15489334 FXYD domain containing ion transport regulator 4 Ensembl:ENSG00000150201 HGNC:4028 HPRD:07019 Vega:OTTHUMG00000018027 Other designations: FXYD domain-containing ion transport regulator 4|channel-inducing factor FXYD4 Bin Zhao, Yue Liu, Oliver He CD20 CK-20 CK20 K20 KRT21 WEB: http://www.ncbi.nlm.nih.gov/gene KRT20 keratin 20 54474 17q21.2 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0005200 (EC: NAS, PMID: 8359595); GO_0005515 (EC: IPI, PMID: 16608857); GO_0005737 (EC: IDA, PMID: 10973561); GO_0005882 (EC: NAS, PMID: 8359595); GO_0006915 (EC: IEA); GO_0033554 (EC: IEA); GO_0045109 (EC: IMP, PMID: 12857878); GO_0050708 (EC: IEA) PMID: 1696264; 7689500; 8359595; 10973561; 11279113; 11642721; 11844829; 11857318; 11962749; 12477932; 12515621; 12636102; 12857878; 12894563; 12954496; 14631371; 15371952; 15489334; 15871722; 16083285; 16189514; 16286979; 16344560; 16362976; 16473461; 16608857; 16722930; 16831889; 17240035; 17378731; 17525485; 17593078; 18029348; 18069772; 18072261; 18092953; 18246436; 18265645; 18387990; 18587323; 18705345; 18804101; 18813128; 19074466; 19098678; 19119477; 19145500; 19188603; 19287335; 19645077; 19664394; 19724850; 19893584; 19914229; 20395351; 20574624; 20936779; 21106111; 21282015; 21574103; 21677534; 21775107; 21938557; 22073364; 22119824; 22178446; 22237712; 22268990; 22348416; 22361037; 22414974; 22677992; 22752373; 22895272; 23150200; 23322277; 23558939; 24025523; 24403457 keratin 20 Ensembl:ENSG00000171431 HGNC:20412 HPRD:12193 MIM:608218 Vega:OTTHUMG00000133366 Other designations: cytokeratin 20|cytokeratin-20|keratin, type I cytoskeletal 20|keratin-20|protein IT KRT20 Bin Zhao, Yue Liu, Oliver He HVLP WEB: http://www.ncbi.nlm.nih.gov/gene CPVL carboxypeptidase, vitellogenic-like 54504 tcag7.235 7p15.1 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0004185 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 8125298; 9780222; 10527689; 10610771; 11042152; 11401439; 12477932; 12690205; 12853948; 12975309; 14702039; 15489334; 16303743; 17207965; 17353931; 17903298; 19056867; 19734545; 20379614; 20460425; 20562859; 21139048; 21890473; 21911749; 22268729; 22505724; 23455922; 24255178 carboxypeptidase, vitellogenic-like Ensembl:ENSG00000106066 HGNC:14399 HPRD:07479 MIM:609780 Vega:OTTHUMG00000023669 Other designations: CP-Mac carboxypeptidase|VCP-like protein|carboxypeptidase WUG|probable serine carboxypeptidase CPVL|vitellogenic carboxypeptidase-like protein CPVL Bin Zhao, Yue Liu, Oliver He HSRNAFEV PET-1 WEB: http://www.ncbi.nlm.nih.gov/gene FEV FEV (ETS oncogene family) 54738 2q36 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0000981 (EC: IBA); GO_0003690 (EC: IEA); GO_0003700 (EC: TAS, PMID: 9121764); GO_0003714 (EC: TAS, PMID: 9121764); GO_0005634 (EC: IBA); GO_0006357 (EC: IBA); GO_0006366 (EC: TAS, PMID: 9121764); GO_0030154 (EC: IBA); GO_0042551 (EC: IEA); GO_0043565 (EC: IEA); GO_0045893 (EC: IEA); GO_0048665 (EC: IEA) PMID: 9121764; 10949935; 12477932; 12761502; 15003288; 15758173; 17597646; 18391951; 19707175; 19874574; 20048018; 20468064; 20480378; 20546612; 22542470; 23591790; 24100022 FEV (ETS oncogene family) Ensembl:ENSG00000163497 HGNC:18562 HPRD:06193 MIM:607150 Vega:OTTHUMG00000133080 Other designations: PC12 ETS domain-containing transcription factor 1|fifth Ewing variant protein|protein FEV FEV Bin Zhao, Yue Liu, Oliver He C1orf11 PALML WEB: http://www.ncbi.nlm.nih.gov/gene PALMD palmdelphin 54873 1p22-p21 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005737 (EC: IEA); GO_0008360 (EC: IEA); GO_0016020 (EC: IEA); GO_0043197 (EC: IEA) PMID: 11478809; 11707320; 12477932; 14702039; 15489334; 15851553; 17081983; 19531213; 19584346; 20379614 palmdelphin Ensembl:ENSG00000099260 HGNC:15846 HPRD:06673 MIM:610182 Vega:OTTHUMG00000010764 Other designations: paralemmin-like protein|paralemnin-like protein PALMD Bin Zhao, Yue Liu, Oliver He ALDRL6 WEB: http://www.ncbi.nlm.nih.gov/gene MIOX myo-inositol oxygenase 55586 RP4-579N16.11-001 22q13.3 20140408 9606 22 protein-coding Official from a nomenclature committee GO_0004033 (EC: ISS); GO_0005737 (EC: ISS); GO_0008199 (EC: IDA, PMID: 18364358); GO_0016234 (EC: ISS); GO_0016651 (EC: IEA); GO_0016701 (EC: ISS); GO_0019310 (EC: IDA, PMID: 18364358); GO_0019310 (EC: ISS); GO_0050113 (EC: IDA, PMID: 18364358); GO_0050661 (EC: IEA) PMID: 2226462; 3017301; 10591208; 10944187; 11716759; 12477932; 14702039; 15461802; 15489334; 15504367; 15778219; 18364358; 19896870 myo-inositol oxygenase Ensembl:ENSG00000100253 HGNC:14522 HPRD:12443 MIM:606774 Vega:OTTHUMG00000150207 Other designations: MI oxygenase|aldehyde reductase (aldose reductase) like 6|aldehyde reductase-like 6|inositol oxygenase|kidney-specific protein 32|renal-specific oxidoreductase MIOX Bin Zhao, Yue Liu, Oliver He CAT2 ECAC1 OTRPC3 WEB: http://www.ncbi.nlm.nih.gov/gene TRPV5 transient receptor potential cation channel, subfamily V, member 5 56302 7q35 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0005262 (EC: ISS); GO_0005515 (EC: IPI, PMID: 16763551); GO_0005516 (EC: IEA); GO_0005886 (EC: TAS); GO_0005887 (EC: IDA, PMID: 15489237); GO_0006816 (EC: ISS); GO_0006816 (EC: TAS, PMID: 15665527); GO_0016324 (EC: IEA); GO_0034220 (EC: TAS); GO_0051262 (EC: ISS); GO_0055085 (EC: TAS); GO_0060402 (EC: IEA); GO_0070588 (EC: TAS) PMID: 10944439; 10945469; 11549322; 11719848; 11765215; 11846401; 12077606; 12093812; 12198212; 12390878; 12477932; 12660155; 12690205; 12765698; 15489237; 15665527; 16044309; 16189514; 16239475; 16291808; 16382100; 16564089; 16763551; 17018846; 17217059; 17233615; 18077461; 18305097; 18596722; 18703016; 19131347; 19140341; 19157541; 19261737; 19295174; 19423690; 19453261; 20178461; 20405023; 20547482; 20686800; 21035851; 21063097; 21187068; 21576356; 21952826; 22354706; 23024298; 23469151; 23970553; 24592736 transient receptor potential cation channel, subfamily V, member 5 Ensembl:ENSG00000127412 HGNC:3145 HPRD:05981 MIM:606679 Vega:OTTHUMG00000157157 Other designations: ECaC|calcium transport protein 2|calcium transporter 2|epithelial calcium channel 1|osm-9-like TRP channel 3|transient receptor potential cation channel subfamily V member 5 TRPV5 Bin Zhao, Yue Liu, Oliver He NEDL2 WEB: http://www.ncbi.nlm.nih.gov/gene HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 57520 2q32.3 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0004842 (EC: IBA); GO_0005634 (EC: IBA); GO_0005737 (EC: IBA); GO_0042787 (EC: IBA) PMID: 10718198; 12477932; 12890487; 15489334; 20379614; 21139048; 21572392; 21890473; 22939629; 24163370 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Ensembl:ENSG00000138411 HGNC:29853 HPRD:17099 Vega:OTTHUMG00000154435 Other designations: E3 ubiquitin-protein ligase HECW2|HECT, C2 and WW domain-containing protein 2|NEDD4-like E3 ubiquitin-protein ligase 2|NEDD4-related E3 ubiquitin ligase NEDL2 HECW2 Bin Zhao, Yue Liu, Oliver He F23858 RBP SF4 WEB: http://www.ncbi.nlm.nih.gov/gene https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2742480/ SUGP1 SURP and G patch domain containing 1 57794 19p13.11 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0000398 (EC: TAS); GO_0005515 (EC: IPI); GO_0005654 (EC: TAS); GO_0005681 (EC: IEA); GO_0008380 (EC: TAS); GO_0010467 (EC: TAS); GO_0044822 (EC: IDA) PMID: 12176931; 12226669; 12477932; 12594045; 14702039; 15057824; 15489334; 17332742; 18029348; 19060906; 19656773; 20686565; 20864672; 21139048; 21988832; 22365833; 22412018; 22939629; 23974872; 24457600 SURP and G patch domain containing 1 Ensembl:ENSG00000105705 HGNC:18643 HPRD:10468 MIM:607992 Vega:OTTHUMG00000182223 Other designations: RNA-binding protein RBP|SURP and G-patch domain-containing protein 1|splicing factor 4 SUGP1 Bin Zhao, Yue Liu, Oliver He KPL1 PHR1 PHRET1 WEB: http://www.ncbi.nlm.nih.gov/gene PLEKHB1 pleckstrin homology domain containing, family B (evectins) member 1 58473 11q13.5-q14.1 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0004871 (EC: TAS, PMID: 10585447); GO_0005737 (EC: IEA); GO_0007275 (EC: IEA); GO_0007602 (EC: NAS, PMID: 10585447); GO_0008022 (EC: IEA); GO_0016021 (EC: IDA, PMID: 10585447); GO_0042803 (EC: IEA); GO_0045595 (EC: IEA) PMID: 10585447; 10923244; 12477932; 14702039; 15489334; 15761153; 19913121; 20301200; 20308990; 20628086; 23275563 pleckstrin homology domain containing, family B (evectins) member 1 Ensembl:ENSG00000021300 HGNC:19079 HPRD:09630 MIM:607651 Vega:OTTHUMG00000168030 Other designations: PH domain containing protein in retina 1|PH domain containing, retinal 1|PH domain-containing family B member 1|PH domain-containing protein in retina 1|evectin-1|pleckstrin homology domain retinal protein 1|pleckstrin homology domain-containing family B member 1 PLEKHB1 Bin Zhao, Yue Liu, Oliver He HSPOX1 WEB: http://www.ncbi.nlm.nih.gov/gene PRODH2 proline dehydrogenase (oxidase) 2 58510 19q13.1 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0004657 (EC: IEA); GO_0005743 (EC: IEA); GO_0006537 (EC: IEA); GO_0010133 (EC: IEA) PMID: 12477932; 18287100; 20877624; 23861960 proline dehydrogenase (oxidase) 2 Ensembl:ENSG00000250799 HGNC:17325 HPRD:17911 Vega:OTTHUMG00000180688 Other designations: kidney and liver proline oxidase 1|probable proline dehydrogenase 2|probable proline oxidase 2 PRODH2 Bin Zhao, Yue Liu, Oliver He PAPP-A2 PAPP-E PAPPE PLAC3 WEB: http://www.ncbi.nlm.nih.gov/gene PAPPA2 pappalysin 2 60676 RP4-774I24.1 1q23-q25 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001558 (EC: NAS, PMID: 11264294); GO_0005576 (EC: TAS); GO_0005622 (EC: NAS, PMID: 11264294); GO_0006508 (EC: IDA, PMID: 11264294); GO_0008237 (EC: IDA, PMID: 11264294); GO_0008270 (EC: NAS, PMID: 11264294); GO_0016020 (EC: IEA); GO_0030154 (EC: IEA); GO_0044267 (EC: TAS) PMID: 9883900; 11018262; 11264294; 11597188; 12466191; 12477932; 14702039; 15231748; 16710414; 18374411; 18805800; 18818296; 19474058; 19834535; 20103653; 20304771; 20379614; 20881960; 21496272; 22037112; 23509962 pappalysin 2 Ensembl:ENSG00000116183 HGNC:14615 HPRD:10156 Vega:OTTHUMG00000035025 Other designations: pappalysin-2|placenta-specific 3|pregnancy-associated plasma preproprotein-A2|pregnancy-associated plasma protein E1 PAPPA2 Bin Zhao, Yue Liu, Oliver He C18orf30 C18orf58 DA5 FAM38B FAM38B2 HsT748 HsT771 WEB: http://www.ncbi.nlm.nih.gov/gene PIEZO2 piezo-type mechanosensitive ion channel component 2 63895 18p11.22 20140408 9606 18 protein-coding Official from a nomenclature committee GO_0005261 (EC: IEA); GO_0006812 (EC: ISS); GO_0008381 (EC: IEA); GO_0016021 (EC: IEA); GO_0042391 (EC: IEA) PMID: 14702039; 15146197; 16344560; 20813920; 21056836; 21299953; 21866343; 22921401; 23000965; 23259602; 23319000; 23377640; 23400010; 23487782 piezo-type mechanosensitive ion channel component 2 Ensembl:ENSG00000154864 HGNC:26270 HPRD:07636 MIM:613629 Vega:OTTHUMG00000178507 Other designations: family with sequence similarity 38, member A pseudogene|family with sequence similarity 38, member B2|piezo-type mechanosensitive ion channel component 1 pseudogene|protein PIEZO2 PIEZO2 Bin Zhao, Yue Liu, Oliver He Hlcd IDDM19 MDA-5 MDA5 RLR-2 WEB: http://www.ncbi.nlm.nih.gov/gene IFIH1 interferon induced with helicase C domain 1 64135 2q24 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0003677 (EC: IEA); GO_0003725 (EC: IDA, PMID: 19656871); GO_0003725 (EC: TAS, PMID: 17079289); GO_0003727 (EC: IDA, PMID: 19656871); GO_0004386 (EC: IEA); GO_0005515 (EC: IPI, PMID: 16127453); GO_0005524 (EC: IEA); GO_0005634 (EC: IEA); GO_0005829 (EC: TAS); GO_0008270 (EC: IDA, PMID: 19380577); GO_0009597 (EC: TAS, PMID: 17079289); GO_0009615 (EC: TAS); GO_0016032 (EC: IEA); GO_0016925 (EC: IDA); GO_0032480 (EC: TAS); GO_0032727 (EC: IMP, PMID: 19656871); GO_0032727 (EC: TAS, PMID: 17079289); GO_0032728 (EC: IMP, PMID: 19211564); GO_0032728 (EC: TAS, PMID: 17079289); GO_0034344 (EC: TAS); GO_0039528 (EC: TAS); GO_0042981 (EC: IEA); GO_0043021 (EC: IPI, PMID: 19881509); GO_0045087 (EC: TAS) PMID: 11002417; 11805321; 12015121; 12477932; 14645903; 14676839; 14702039; 15489334; 15563593; 16116171; 16127453; 16177806; 16575407; 16699517; 16782388; 16797201; 17079289; 17267501; 17442111; 17535987; 17541283; 17554260; 18026693; 18029348; 18071670; 18285833; 18684960; 18927125; 19016379; 19073967; 19154402; 19156166; 19164550; 19211564; 19264985; 19324880; 19380577; 19403670; 19430480; 19450885; 19531363; 19539001; 19565506; 19615405; 19620789; 19656871; 19742420; 19797678; 19838195; 19841890; 19846522; 19881509; 19890046; 19913121; 19951419; 19961590; 20033399; 20116863; 20203524; 20434986; 20467774; 20538742; 20595247; 20628086; 20644636; 20647273; 20668468; 20694011; 20719949; 20736039; 20739519; 20844740; 20953190; 21052763; 21071089; 21113677; 21123378; 21156324; 21187438; 21224721; 21245912; 21270278; 21289206; 21342182; 21496705; 21705624; 21829393; 21832049; 21844166; 21903422; 21906983; 21910972; 21978001; 22046141; 22053898; 22110759; 22152027; 22160685; 22185736; 22192091; 22301138; 22461656; 22561518; 22590509; 22623778; 22705106; 22732950; 22789000; 22797917; 22864531; 22886382; 22892369; 22908223; 22915805; 23090998; 23108955; 23128233; 23144876; 23152520; 23246693; 23273991; 23284052; 23390309; 23399697; 23436757; 23441136; 23499489; 23535865; 23650567; 23671710; 23684765; 23926323 interferon induced with helicase C domain 1 Ensembl:ENSG00000115267 HGNC:18873 HPRD:09507 MIM:606951 Vega:OTTHUMG00000132055 Other designations: CADM-140 autoantigen|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide|RIG-I-like receptor 2|RNA helicase-DEAD box protein 116|clinically amyopathic dermatomyositis autoantigen 140 kDa|helicard|helicase with 2 CARD domains|interferon-induced helicase C domain-containing protein 1|melanoma differentiation associated protein-5|melanoma differentiation-associated protein 5|murabutide down-regulated protein IFIH1 Bin Zhao, Yue Liu, Oliver He 4SPAN3 4SPAN3.2 CD20L3 MS4A6 MST090 MSTP090 WEB: http://www.ncbi.nlm.nih.gov/gene MS4A6A membrane-spanning 4-domains, subfamily A, member 6A 64231 CDA01 11q12.1 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0016021 (EC: IEA) PMID: 11245982; 11401424; 11486273; 12477932; 15489334; 16344560; 20237496; 20453000; 21460840; 22382309; 23969696 membrane-spanning 4-domains, subfamily A, member 6A Ensembl:ENSG00000110077 HGNC:13375 HPRD:09414 MIM:606548 Vega:OTTHUMG00000167241 Other designations: CD20 antigen-like 3|CD20-like precusor|HAIRB-iso|MS4A6A-polymorph|four-span transmembrane protein 3|four-span transmembrane protein 3.1|four-span transmembrane protein 3.2|membrane-spanning 4-domains subfamily A member 6A MS4A6A Bin Zhao, Yue Liu, Oliver He VUR3 WEB: http://www.ncbi.nlm.nih.gov/gene SOX17 SRY (sex determining region Y)-box 17 64321 8q11.23 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0000122 (EC: IEA); GO_0001525 (EC: ISS); GO_0001570 (EC: ISS); GO_0001706 (EC: IDA, PMID: 18682240); GO_0001828 (EC: IEA); GO_0001947 (EC: ISS); GO_0003142 (EC: ISS); GO_0003143 (EC: ISS); GO_0003151 (EC: ISS); GO_0003308 (EC: IEA); GO_0003705 (EC: ISS); GO_0003713 (EC: IEA); GO_0005634 (EC: IDA, PMID: 17875931); GO_0005667 (EC: IDA, PMID: 19736317); GO_0006355 (EC: ISS); GO_0007283 (EC: IEA); GO_0007493 (EC: IEA); GO_0008013 (EC: IPI, PMID: 17875931); GO_0008134 (EC: IPI, PMID: 17875931); GO_0021903 (EC: IEA); GO_0023019 (EC: IEA); GO_0030308 (EC: IMP, PMID: 18413743); GO_0031648 (EC: IMP, PMID: 17875931); GO_0035050 (EC: ISS); GO_0042074 (EC: IEA); GO_0042662 (EC: IEA); GO_0042789 (EC: IDA); GO_0043565 (EC: IEA); GO_0044212 (EC: ISS); GO_0045597 (EC: IEA); GO_0045732 (EC: IEA); GO_0045893 (EC: ISS); GO_0045944 (EC: IDA); GO_0045995 (EC: ISS); GO_0048617 (EC: ISS); GO_0048643 (EC: IEA); GO_0048866 (EC: IEA); GO_0050821 (EC: IMP, PMID: 17875931); GO_0060070 (EC: IEA); GO_0060214 (EC: ISS); GO_0060807 (EC: ISS); GO_0060913 (EC: IMP, PMID: 19736317); GO_0060914 (EC: TAS, PMID: 19736317); GO_0060956 (EC: ISS); GO_0061009 (EC: IEA); GO_0061010 (EC: IEA); GO_0061031 (EC: ISS); GO_0072001 (EC: IMP); GO_0072091 (EC: IEA); GO_0090090 (EC: IMP, PMID: 18413743); GO_2000035 (EC: IEA); GO_2000043 (EC: IEA) PMID: 11786926; 12100890; 12194848; 12477932; 14702039; 15163629; 16344560; 17875931; 18413743; 18523156; 18564921; 18682240; 18940723; 18997786; 19301122; 19369635; 19549530; 19736317; 20364137; 20716954; 20960469; 21305474; 21362573; 21457403; 21514720; 21760905; 21957254; 22161215; 22348788; 22846201; 22921431; 22961961; 23044318; 23061670; 23136251; 23169777; 23241958; 23403728; 23474492; 23918253; 23999170 SRY (sex determining region Y)-box 17 Ensembl:ENSG00000164736 HGNC:18122 HPRD:18085 MIM:610928 Vega:OTTHUMG00000164377 Other designations: SRY-related HMG-box transcription factor SOX17|transcription factor SOX-17 SOX17 Bin Zhao, Yue Liu, Oliver He PSF3 WEB: http://www.ncbi.nlm.nih.gov/gene GINS3 GINS complex subunit 3 (Psf3 homolog) 64785 16q21 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0005634 (EC: IDA); GO_0005730 (EC: IDA, Qualifier: NOT); GO_0006260 (EC: IEA) PMID: 12477932; 12730134; 14702039; 15342556; 16344560; 16990792; 17127213; 17170760; 17417653; 17545466; 17557111; 17652513; 19305408; 19652097; 20059967; 21139048; 21705323; 21890473; 21963094; 22863883; 22939629; 23127337 GINS complex subunit 3 (Psf3 homolog) Ensembl:ENSG00000181938 HGNC:25851 HPRD:07842 MIM:610610 Vega:OTTHUMG00000133486 Other designations: DNA replication complex GINS protein PSF3 GINS3 Bin Zhao, Yue Liu, Oliver He NADC3 SDCT2 WEB: http://www.ncbi.nlm.nih.gov/gene SLC13A3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 64849 RP1-257E24.1 20q13.12 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0005886 (EC: TAS); GO_0015362 (EC: IEA); GO_0016021 (EC: IEA); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 10794676; 10992006; 11780052; 12477932; 12915942; 14702039; 15146197; 15342556; 15489334; 15561973; 16211368; 16331647; 16344560; 18029348; 18602983; 19056867; 20813124; 21865262; 21873665 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 Ensembl:ENSG00000158296 HGNC:14430 HPRD:10450 MIM:606411 Vega:OTTHUMG00000033042 Other designations: Na(+)/dicarboxylate cotransporter 3|hNaDC3|naDC-3|sodium-dependent high affinity dicarboxylate transporter 3|sodium-dependent high-affinity dicarboxylate transporter 2|solute carrier family 13 member 3 SLC13A3 Bin Zhao, Yue Liu, Oliver He C7orf15 WEB: http://www.ncbi.nlm.nih.gov/gene PVRIG poliovirus receptor related immunoglobulin domain containing 79037 7q22.1 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0016021 (EC: IEA) PMID: 8125298; 12477932; 16926269; 17207965 poliovirus receptor related immunoglobulin domain containing Ensembl:ENSG00000213413 HGNC:32190 Vega:OTTHUMG00000156798 Other designations: poliovirus receptor-related immunoglobulin domain-containing protein|transmembrane protein PVRIG PVRIG Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene MCTP1 multiple C2 domains, transmembrane 1 79772 5q15 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0005509 (EC: IDA, PMID: 15528213); GO_0005544 (EC: IDA, Qualifier: NOT, PMID: 15528213); GO_0016021 (EC: IDA, PMID: 15528213); GO_0019722 (EC: NAS, PMID: 15528213) PMID: 12477932; 14702039; 15203218; 15528213; 19416921; 20379614; 23568457 multiple C2 domains, transmembrane 1 Other designations: multiple C2 and transmembrane domain-containing protein 1|multiple C2-domains with two transmembrane regions 1 MCTP1 Bin Zhao, Yue Liu, Oliver He ACAM ASAM CSBM CSBS WEB: http://www.ncbi.nlm.nih.gov/gene CLMP CXADR-like membrane protein 79827 UNQ318/PRO363 11q24.1 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0005881 (EC: IDA); GO_0005886 (EC: IEA); GO_0005923 (EC: IDA); GO_0016021 (EC: IEA); GO_0048565 (EC: IMP) PMID: 12107410; 12477932; 12851705; 12975309; 14573622; 15563274; 17207965; 17538635; 18029348; 20379614; 21982860; 22155368; 22718816; 22992863; 23460781 CXADR-like membrane protein Ensembl:ENSG00000166250 HGNC:24039 HPRD:16513 MIM:611693 Vega:OTTHUMG00000166031 Other designations: CAR-like membrane protein|adipocyte adhesion molecule|adipocyte-specific adhesion molecule|coxsackie- and adenovirus receptor-like membrane protein CLMP Bin Zhao, Yue Liu, Oliver He ACY1L AN C18orf14 HsT1731 WEB: http://www.ncbi.nlm.nih.gov/gene CCDC102B coiled-coil domain containing 102B 79839 18q22.1 20140408 9606 18 protein-coding Official from a nomenclature committee PMID: 1707030; 8125298; 12477932; 14702039; 15489334; 16344560; 20379614; 24124411; 24250222 coiled-coil domain containing 102B Ensembl:ENSG00000150636 HGNC:26295 HPRD:08038 Vega:OTTHUMG00000132808 Other designations: coiled-coil domain-containing protein 102B CCDC102B Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene DENND2D DENN/MADD domain containing 2D 79961 RP5-1180E21.2 1p13.3 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005737 (EC: IEA); GO_0017112 (EC: IDA); GO_0032313 (EC: IDA) PMID: 12477932; 14702039; 15342556; 15489334; 16710414; 17207965; 18677770; 20937701; 22001757; 22939629; 23182661 DENN/MADD domain containing 2D Other designations: DENN domain-containing protein 2D|RP5-1180E21.2 DENND2D Bin Zhao, Yue Liu, Oliver He BXMAS1 CD307 CD307e FCRH5 IRTA2 PRO820 WEB: http://www.ncbi.nlm.nih.gov/gene FCRL5 Fc receptor-like 5 83416 RP11-217A12.1 1q21 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005886 (EC: IEA); GO_0016021 (EC: IEA); GO_0043235 (EC: IDA) PMID: 11027651; 11290337; 11453668; 11493702; 11929751; 12477932; 12975309; 15489334; 15671532; 16439682; 16681430; 16710414; 17273841; 18704934; 18802695; 19775371; 20237496; 20590663; 20626413; 22028333; 22044751; 22491254; 23616577 Fc receptor-like 5 Ensembl:ENSG00000143297 HGNC:18508 HPRD:16169 MIM:605877 Vega:OTTHUMG00000017481 Other designations: Fc receptor-like protein 5|fc receptor homolog 5|fcR-like protein 5|immune receptor translocation-associated protein 2|immunoglobulin superfamily receptor translocation associated 2 (IRTA2) FCRL5 Bin Zhao, Yue Liu, Oliver He FELS PV-1 PV1 gp68 WEB: http://www.ncbi.nlm.nih.gov/gene PLVAP plasmalemma vesicle associated protein 83483 19p13.2 20140408 9606 19 protein-coding Official from a nomenclature committee GO_0000165 (EC: IDA, PMID: 15155804); GO_0002693 (EC: IMP, PMID: 19420356); GO_0005515 (EC: IPI, PMID: 19420356); GO_0005901 (EC: IDA, PMID: 15155804); GO_0005901 (EC: IDA, Qualifier: colocalizes_with, PMID: 19420356); GO_0009986 (EC: IDA, PMID: 15155804); GO_0016021 (EC: IEA); GO_0033209 (EC: IDA, PMID: 19420356); GO_0042803 (EC: IEA); GO_0048471 (EC: IEA); GO_0070528 (EC: IDA, Qualifier: NOT, PMID: 15155804) PMID: 10366592; 11401446; 12475376; 12477932; 14702039; 15155804; 15489334; 15971170; 16278383; 17207965; 18029348; 19420356; 20979949; 21827737; 22627768 plasmalemma vesicle associated protein Ensembl:ENSG00000130300 HGNC:13635 HPRD:09626 MIM:607647 Vega:OTTHUMG00000182784 Other designations: fenestrated endothelial-linked structure protein|fenestrated-endothelial linked structure protein; PV-1 protein|plasmalemma vesicle protein 1|plasmalemma vesicle-associated protein PLVAP Bin Zhao, Yue Liu, Oliver He AE4 WEB: http://www.ncbi.nlm.nih.gov/gene SLC4A9 solute carrier family 4, sodium bicarbonate cotransporter, member 9 83697 5q31 20140408 9606 5 protein-coding Official from a nomenclature committee GO_0005452 (EC: IEA); GO_0005886 (EC: TAS); GO_0006811 (EC: TAS); GO_0015701 (EC: TAS); GO_0016021 (EC: IEA); GO_0045177 (EC: IEA); GO_0055085 (EC: TAS) PMID: 11302728; 11305939; 12477932 solute carrier family 4, sodium bicarbonate cotransporter, member 9 Ensembl:ENSG00000113073 HGNC:11035 HPRD:15393 MIM:610207 Vega:OTTHUMG00000163352 Other designations: anion exchange protein 4|anion exchanger 4|sodium bicarbonate cotransporter 5|solute carrier family 4, sodium bicarbonate cotransporter-like, member 9 SLC4A9 Bin Zhao, Yue Liu, Oliver He BTR1 CDPD1 CHED2 NABC1 dJ794I6.2 WEB: http://www.ncbi.nlm.nih.gov/gene SLC4A11 solute carrier family 4, sodium borate transporter, member 11 83959 RP4-794I6.3 20p12 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0005272 (EC: IDA, PMID: 15525507); GO_0005452 (EC: IEA); GO_0006814 (EC: IDA, PMID: 15525507); GO_0015106 (EC: IDA, PMID: 15525507); GO_0015252 (EC: IDA, PMID: 15525507); GO_0015293 (EC: IEA); GO_0015701 (EC: IDA, PMID: 15525507); GO_0015992 (EC: IDA, PMID: 15525507); GO_0016021 (EC: IEA); GO_0016323 (EC: TAS, PMID: 15525507); GO_0030003 (EC: IDA, PMID: 15525507); GO_0035445 (EC: IDA, PMID: 15525507); GO_0035725 (EC: IDA, PMID: 15525507); GO_0042044 (EC: ISS); GO_0046713 (EC: IDA, PMID: 15525507); GO_0046715 (EC: IDA, PMID: 15525507); GO_0046983 (EC: IDA) PMID: 8889548; 10209448; 10512674; 11302728; 11780052; 11836359; 12477932; 12654361; 14702039; 15525507; 16767101; 16825429; 17220209; 17262014; 17397048; 17667634; 17679935; 18024964; 18363173; 18474783; 19369245; 20118786; 20144242; 20848555; 21203343; 21288032; 21906983; 21963094; 22072594; 22447871; 23462747; 23615275; 23864606; 23922488 solute carrier family 4, sodium borate transporter, member 11 Ensembl:ENSG00000088836 HGNC:16438 HPRD:15392 MIM:610206 Vega:OTTHUMG00000031740 Other designations: bicarbonate transporter related protein 1|sodium bicarbonate transporter-like protein 11|sodium-coupled borate cotransporter 1|solute carrier family 4, sodium bicarbonate transporter-like, member 11 SLC4A11 Bin Zhao, Yue Liu, Oliver He DARPP-32 DARPP32 WEB: http://www.ncbi.nlm.nih.gov/gene PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B 84152 17q12 20140408 9606 17 protein-coding Official from a nomenclature committee GO_0001975 (EC: IEA); GO_0004860 (EC: TAS, PMID: 10604473); GO_0004864 (EC: TAS, PMID: 10604473); GO_0005634 (EC: IEA); GO_0005829 (EC: TAS); GO_0006351 (EC: IEA); GO_0006469 (EC: TAS, PMID: 10604473); GO_0007165 (EC: TAS, PMID: 10604473); GO_0007621 (EC: IEA); GO_0008542 (EC: IEA); GO_0008599 (EC: TAS); GO_0031748 (EC: IEA); GO_0031749 (EC: IEA); GO_0031750 (EC: IEA); GO_0031751 (EC: IEA); GO_0031752 (EC: IEA); GO_0035556 (EC: IEA); GO_0043025 (EC: IEA); GO_0043086 (EC: TAS, PMID: 10604473); GO_0050790 (EC: TAS) PMID: 1663529; 1721636; 1791981; 2153935; 2191086; 2557337; 6087160; 6319627; 6330098; 8120638; 8125298; 9108011; 9920093; 10604473; 11134138; 12124342; 12477932; 14508844; 14702039; 14991576; 15010812; 15188007; 15345721; 15489334; 16061638; 16169070; 16344560; 16750903; 17027969; 17117180; 17171661; 17290303; 17492506; 17521792; 17618027; 17683050; 17695523; 17948899; 18055181; 18058465; 18199533; 18270970; 18470533; 18573638; 18579663; 18808062; 18954090; 19058789; 19059449; 19077115; 19086053; 19124506; 19156168; 19301121; 19463699; 19651774; 19874574; 19897079; 19913121; 20074680; 20468064; 20483474; 20580047; 20628086; 20631684; 20836878; 20874815; 21041608; 21369787; 21447180; 21453742; 21741919; 22179181; 22559203; 22576830; 22589394; 23080070; 23160836; 23250204; 23250732; 23639477; 24395794 protein phosphatase 1, regulatory (inhibitor) subunit 1B Ensembl:ENSG00000131771 HGNC:9287 HPRD:05097 MIM:604399 Vega:OTTHUMG00000133210 Other designations: dopamine and cAMP-regulated neuronal phosphoprotein 32|protein phosphatase 1 regulatory subunit 1B PPP1R1B Bin Zhao, Yue Liu, Oliver He MFSD2 WEB: http://www.ncbi.nlm.nih.gov/gene MFSD2A major facilitator superfamily domain containing 2A 84879 HMFN0656 1p34.2 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005737 (EC: IDA); GO_0005789 (EC: IEA); GO_0005886 (EC: IDA); GO_0006810 (EC: IEA); GO_0016021 (EC: IEA) PMID: 12477932; 12975309; 14702039; 15221005; 15342556; 15489334; 15498874; 16303743; 16344560; 16710414; 17145094; 18694395; 18988732; 20236515; 21677192; 21736709; 23177091; 23349019; 23534349 major facilitator superfamily domain containing 2A Ensembl:ENSG00000168389 HGNC:25897 HPRD:07861 MIM:614397 Vega:OTTHUMG00000009293 Other designations: major facilitator superfamily domain-containing protein 2A MFSD2A Bin Zhao, Yue Liu, Oliver He GATF-C GNAT WEB: http://www.ncbi.nlm.nih.gov/gene GLYATL1 glycine-N-acyltransferase-like 1 92292 11q12.1 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0005739 (EC: IEA); GO_0047946 (EC: IEA); GO_0047961 (EC: IEA) PMID: 12477932; 14702039; 15489334; 17207965; 22475485 glycine-N-acyltransferase-like 1 Ensembl:ENSG00000166840 HGNC:30519 HPRD:14447 MIM:614761 Vega:OTTHUMG00000167221 Other designations: acyl-CoA:glycine N-acyltransferase-like protein 1|glutamine N-acyltransferase|glycine N-acyltransferase-like protein 1 GLYATL1 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene SP140L SP140 nuclear body protein-like 93349 2q37.1 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0003677 (EC: IEA); GO_0005634 (EC: IEA); GO_0008270 (EC: IEA) PMID: 12477932; 14702039; 16344560; 19953087; 20379614; 20800603; 21832049; 21906983; 21963094; 22118674; 22505724; 23000965; 23942779 SP140 nuclear body protein-like Other designations: SP140L-1 protein|SP140L-2 protein|SP140L-3 protein|nuclear body protein SP140-like protein SP140L Bin Zhao, Yue Liu, Oliver He AGTAVPRL AII AVP C1orf7 CIAS1 CLR1.1 FCAS FCU MWS NALP3 PYPAF1 WEB: http://www.ncbi.nlm.nih.gov/gene NLRP3 NLR family, pyrin domain containing 3 114548 1q44 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0002674 (EC: IMP, PMID: 11687797); GO_0005515 (EC: IPI, PMID: 11786556); GO_0005524 (EC: IEA); GO_0005737 (EC: IDA, PMID: 17164409); GO_0005737 (EC: TAS, PMID: 15967716); GO_0005829 (EC: TAS); GO_0006915 (EC: NAS, PMID: 12032915); GO_0006919 (EC: IEA); GO_0006952 (EC: TAS, PMID: 15967716); GO_0006954 (EC: IMP, PMID: 12093792); GO_0007165 (EC: NAS, PMID: 11786556); GO_0009595 (EC: TAS, PMID: 15967716); GO_0032088 (EC: IDA, PMID: 14662828); GO_0032611 (EC: IEA); GO_0032621 (EC: IEA); GO_0035872 (EC: TAS); GO_0042347 (EC: IDA, PMID: 14662828); GO_0042834 (EC: TAS, PMID: 15967716); GO_0043280 (EC: IDA, PMID: 15030775); GO_0044546 (EC: IEA); GO_0045087 (EC: TAS); GO_0050701 (EC: IEA); GO_0050713 (EC: IMP, PMID: 12483741); GO_0050718 (EC: IDA, PMID: 15030775); GO_0050728 (EC: IMP, PMID: 12483741); GO_0051092 (EC: IDA, PMID: 19158675); GO_0051259 (EC: TAS, PMID: 15967716); GO_0051607 (EC: IEA); GO_0071222 (EC: IMP, PMID: 12483741); GO_0072559 (EC: IDA, PMID: 15030775) PMID: 9653160; 10741953; 11042152; 11687797; 11786556; 11967258; 11992256; 12032915; 12093792; 12355493; 12477932; 12483741; 12522564; 12563287; 12615073; 12673085; 12766759; 14630794; 14662828; 15020601; 15030775; 15071491; 15107016; 15334500; 15593220; 15967716; 16037825; 16234278; 16344560; 16531551; 16642435; 16710414; 16868559; 17046979; 17164343; 17164409; 17178985; 17213252; 17284928; 17393462; 17435760; 17592301; 17599094; 17620097; 17697637; 17763411; 17907925; 18005730; 18063752; 18080732; 18084703; 18174231; 18175851; 18189199; 18263599; 18311798; 18576390; 18719602; 18772453; 19001869; 19058789; 19098911; 19120479; 19120481; 19158675; 19201894; 19223160; 19254587; 19319132; 19337385; 19364881; 19414800; 19454352; 19570822; 19579027; 19648107; 19767079; 19784369; 19805629; 19811501; 19824913; 19826485; 19890791; 19913121; 20002790; 20008285; 20011700; 20031576; 20038581; 20060594; 20131254; 20131270; 20135584; 20148899; 20179743; 20182451; 20237496; 20368800; 20370570; 20384614; 20401456; 20401526; 20403135; 20407038; 20421639; 20502346; 20506209; 20628086; 20668705; 20688930; 20800603; 20808838; 20884650; 20962258; 20980503; 21035374; 21051542; 21058222; 21109514; 21124315; 21124859; 21217695; 21241317; 21245836; 21300955; 21315400; 21342182; 21394384; 21421008; 21451572; 21508263; 21550598; 21560198; 21566220; 21621776; 21637346; 21646297; 21876553; 21880711; 21930705; 21940629; 21940680; 21971358; 21978001; 21994456; 22102247; 22112657; 22128899; 22146561; 22227418; 22227487; 22276187; 22295065; 22325453; 22403613; 22461501; 22490866; 22497426; 22503597; 22522430; 22524199; 22529966; 22541070; 22558425; 22608495; 22698681; 22723549; 22768094; 22796220; 22843550; 22904305; 22933232; 22933241; 22935299; 22948162; 22981536; 22984081; 22984082; 22997256; 23015306; 23066025; 23086037; 23110140; 23171454; 23206693; 23209696; 23211828; 23221073; 23254930; 23264657; 23271661; 23280543; 23315075; 23375846; 23382313; 23399110; 23427152; 23430110; 23434541; 23440695; 23505242; 23530046; 23549611; 23563199; 23567555; 23582325; 23588528; 23614732; 23633957; 23737748; 23738518; 23815151; 23825667; 23838163; 23840644; 23843215; 23871209; 23884315; 23911403; 23937860; 23954133; 23969696; 23973727; 23980097; 24008734; 24048902; 24144834; 24166187 NLR family, pyrin domain containing 3 Ensembl:ENSG00000162711 HGNC:16400 HPRD:05915 MIM:606416 Vega:OTTHUMG00000040647 Other designations: NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3|NACHT, LRR and PYD containing protein 3|NACHT, LRR and PYD domains-containing protein 3|PYRIN-containing APAF1-like protein 1|caterpiller protein 1.1|cold autoinflammatory syndrome 1 protein|cryopyrin|nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3 NLRP3 Bin Zhao, Yue Liu, Oliver He SUT2 WEB: http://www.ncbi.nlm.nih.gov/gene SLC26A7 solute carrier family 26 (anion exchanger), member 7 115111 8q23 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0001696 (EC: IEA); GO_0005254 (EC: IDA, PMID: 1183472); GO_0005737 (EC: IDA, PMID: 16524946); GO_0005768 (EC: IDA, PMID: 16524946); GO_0005886 (EC: TAS); GO_0006811 (EC: TAS); GO_0006820 (EC: IDA, PMID: 11834742); GO_0006821 (EC: IDA, PMID: 1183472); GO_0008272 (EC: IDA, PMID: 1183472); GO_0015106 (EC: ISS, PMID: 12736153); GO_0015116 (EC: IDA, PMID: 1183472); GO_0015301 (EC: IEA); GO_0015701 (EC: ISS, PMID: 12736153); GO_0016021 (EC: IEA); GO_0016323 (EC: IMP, PMID: 16524946); GO_0019531 (EC: IDA, PMID: 1183472); GO_0019532 (EC: IDA, PMID: 1183472); GO_0055038 (EC: IEA); GO_0055085 (EC: TAS); GO_1902358 (EC: IDA, PMID: 1183472); GO_1902476 (EC: IDA, PMID: 1183472) PMID: 1183472; 11581495; 11829495; 11834742; 12477932; 12736153; 12965893; 14702039; 15284286; 15956810; 16524946; 21822266; 21897333 solute carrier family 26 (anion exchanger), member 7 Ensembl:ENSG00000147606 HGNC:14467 HPRD:10533 MIM:608479 Vega:OTTHUMG00000164062 Other designations: anion exchange transporter|solute carrier family 26, member 7|sulfate anion transporter SLC26A7 Bin Zhao, Yue Liu, Oliver He KST1 RKST1 SGLT6 SMIT2 WEB: http://www.ncbi.nlm.nih.gov/gene SLC5A11 solute carrier family 5 (sodium/inositol cotransporter), member 11 115584 16p12.1 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0005886 (EC: TAS); GO_0006814 (EC: IEA); GO_0006915 (EC: IEA); GO_0008643 (EC: IEA); GO_0015293 (EC: IEA); GO_0016021 (EC: IEA); GO_0055085 (EC: TAS) PMID: 12039040; 12133831; 12477932; 18069935; 20379614; 20800603 solute carrier family 5 (sodium/inositol cotransporter), member 11 Ensembl:ENSG00000158865 HGNC:23091 MIM:610238 Vega:OTTHUMG00000097003 Other designations: Na(+)/myo-inositol cotransporter 2|homolog of rabbit KST1|putative sodium-coupled cotransporter RKST1|sodium-dependent glucose cotransporter|sodium/glucose cotransporter KST1|sodium/myo-inositol cotransporter 2|sodium/myo-inositol transporter 2|solute carrier family 5 (sodium/glucose cotransporter), member 11 SLC5A11 Bin Zhao, Yue Liu, Oliver He DGAT2L DGAT2L1 MGAT1 WEB: http://www.ncbi.nlm.nih.gov/gene MOGAT1 monoacylglycerol O-acyltransferase 1 116255 2q36.1 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0003846 (EC: IEA); GO_0004144 (EC: IEA); GO_0005789 (EC: IEA); GO_0006071 (EC: IEA); GO_0006651 (EC: IEA); GO_0016021 (EC: IEA); GO_0019432 (EC: IEA) PMID: 11481335; 12077311; 14970677; 15815621; 18976975 monoacylglycerol O-acyltransferase 1 Ensembl:ENSG00000124003 HGNC:18210 HPRD:14729 MIM:610268 Vega:OTTHUMG00000153394 Other designations: 2-acylglycerol O-acyltransferase 1|acyl-CoA:monoacylglycerol acyltransferase 1|diacylglycerol O-acyltransferase 2 like 1|diacylglycerol O-acyltransferase candidate 2|diacylglycerol acyltransferase 2-like protein 1|hDC2 MOGAT1 Bin Zhao, Yue Liu, Oliver He C1orf24 NIBAN WEB: http://www.ncbi.nlm.nih.gov/gene FAM129A family with sequence similarity 129, member A 116496 GIG39 1q25 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0001933 (EC: ISS); GO_0001934 (EC: ISS); GO_0003674 (EC: ND); GO_0005515 (EC: IPI); GO_0005737 (EC: IDA); GO_0005886 (EC: IDA); GO_0034976 (EC: ISS); GO_0045727 (EC: ISS); GO_0070062 (EC: IDA, PMID: 19199708) PMID: 11011112; 11318611; 12477932; 14702039; 15085203; 15489334; 16444351; 16710414; 16949643; 18029348; 19199708; 19240061; 19536772; 21520112; 21890473; 21906983; 22157935; 22863883; 23251661 family with sequence similarity 129, member A Ensembl:ENSG00000135842 HGNC:16784 HPRD:10725 Vega:OTTHUMG00000035388 Other designations: cell growth-inhibiting gene 39 protein|protein Niban FAM129A Bin Zhao, Yue Liu, Oliver He A-923A4.1 ACSM2 WEB: http://www.ncbi.nlm.nih.gov/gene ACSM2A acyl-CoA synthetase medium-chain family member 2A 123876 16p12.3 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0005524 (EC: IEA); GO_0005739 (EC: NAS, PMID: 19634011); GO_0005759 (EC: IEA); GO_0006631 (EC: IEA); GO_0036112 (EC: IDA, PMID: 19345228); GO_0042593 (EC: NAS, PMID: 16521160); GO_0046872 (EC: IEA); GO_0047760 (EC: IDA, PMID: 19345228); GO_0070328 (EC: NAS, PMID: 16521160) PMID: 10493829; 12477932; 14702039; 16344560; 16521160; 19345228; 19634011; 20877624 acyl-CoA synthetase medium-chain family member 2A Ensembl:ENSG00000183747 HGNC:32017 HPRD:17292 MIM:614358 Vega:OTTHUMG00000177401 Other designations: Homolog of rat kidney-specific (KS)|acyl-coenzyme A synthetase ACSM2A, mitochondrial|butyrate--CoA ligase 2A|butyryl-coenzyme A synthetase 2A|middle-chain acyl-CoA synthetase 2A ACSM2A Bin Zhao, Yue Liu, Oliver He ATP6G3 Vma10 WEB: http://www.ncbi.nlm.nih.gov/gene ATP6V1G3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 127124 1q31.3 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005829 (EC: IDA, PMID: 17360703); GO_0005829 (EC: TAS); GO_0005886 (EC: IDA, PMID: 17360703); GO_0006879 (EC: TAS); GO_0008286 (EC: TAS); GO_0008553 (EC: IEA); GO_0016471 (EC: IEA); GO_0033572 (EC: TAS); GO_0051117 (EC: IPI, PMID: 17360703); GO_0051701 (EC: TAS); GO_0055085 (EC: TAS); GO_0090382 (EC: TAS) PMID: 1415677; 2874839; 9210392; 9442887; 10221984; 10224039; 10340843; 10440860; 11836511; 12384298; 12477932; 12788495; 14580332; 14597263; 15489334; 16710414; 17360703; 17662945; 19366680; 20139978; 23648065 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 Ensembl:ENSG00000151418 HGNC:18265 HPRD:16526 Vega:OTTHUMG00000035661 Other designations: ATPase, H+ transporting, lysosomal (vacuolar proton pump) subunit G3|V-ATPase 13 kDa subunit 3|V-ATPase G subunit 3|V-ATPase G3 subunit|V-ATPase subunit G 3|V-type proton ATPase subunit G 3|vacuolar ATP synthase subunit G 3|vacuolar proton pump G subunit 3|vacuolar proton pump subunit G 3|vacuolar proton pump, subunit G3 ATP6V1G3 Bin Zhao, Yue Liu, Oliver He UNQ846 WEB: http://www.ncbi.nlm.nih.gov/gene TMEM207 transmembrane protein 207 131920 UNQ846/PRO1784 3q28 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0016021 (EC: IEA) PMID: 12477932; 12975309; 17207965; 19322201; 22226915; 23824909 transmembrane protein 207 Ensembl:ENSG00000198398 HGNC:33705 HPRD:15621 MIM:614786 Vega:OTTHUMG00000156213 Other designations: SRSR846 TMEM207 Bin Zhao, Yue Liu, Oliver He GATAS bB379O24.1 WEB: http://www.ncbi.nlm.nih.gov/gene GATA5 GATA binding protein 5 140628 20q13.33 20140408 9606 20 protein-coding Official from a nomenclature committee GO_0001158 (EC: IEA); GO_0003700 (EC: IDA, PMID: 14986113); GO_0003705 (EC: IEA); GO_0005634 (EC: IDA, PMID: 9566909); GO_0005654 (EC: TAS); GO_0007596 (EC: TAS); GO_0008270 (EC: IEA); GO_0044212 (EC: IDA, PMID: 9566909); GO_0045944 (EC: IDA, PMID: 14986113); GO_0060575 (EC: IDA, PMID: 9566909); GO_0071773 (EC: IEA) PMID: 9566909; 10567378; 11375995; 11408257; 11780052; 12011060; 12477932; 14612389; 14715527; 14986113; 15489334; 15585625; 16337738; 16823849; 17912029; 19509152; 20222162; 22028801; 22483626; 22625849; 22641149; 22961344; 23031282; 23175127; 23289003; 23295592; 23535732 GATA binding protein 5 Ensembl:ENSG00000130700 HGNC:15802 HPRD:17029 MIM:611496 Vega:OTTHUMG00000032919 Other designations: GATA binding factor-5|GATA-binding factor 5|GATA-binding protein 5|transcription factor GATA-5 GATA5 Bin Zhao, Yue Liu, Oliver He C20orf118 dJ132F21.2 WEB: http://www.ncbi.nlm.nih.gov/gene TLDC2 TBC/LysM-associated domain containing 2 140711 RP1-132F21.2 20q11.23 20140408 9606 20 protein-coding Official from a nomenclature committee PMID: 12477932 TBC/LysM-associated domain containing 2 Ensembl:ENSG00000101342 HGNC:16112 HPRD:18554 Vega:OTTHUMG00000032400 Other designations: TBC/LysM-associated domain-containing protein 2|TLD domain containing 2|TLD domain-containing protein 2 TLDC2 Bin Zhao, Yue Liu, Oliver He CHAK2 HMGX HOMG HOMG1 HSH WEB: http://www.ncbi.nlm.nih.gov/gene TRPM6 transient receptor potential cation channel, subfamily M, member 6 140803 RP11-174B4.1 9q21.13 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0004674 (EC: IEA); GO_0005262 (EC: IEA); GO_0005515 (EC: IPI, PMID: 18258429); GO_0005524 (EC: IEA); GO_0005886 (EC: TAS); GO_0009636 (EC: IDA, PMID: 17575980); GO_0016021 (EC: IEA); GO_0016324 (EC: IEA); GO_0031526 (EC: IEA); GO_0034220 (EC: TAS); GO_0046872 (EC: IEA); GO_0055085 (EC: TAS); GO_0070588 (EC: TAS) PMID: 8125298; 9285786; 10021370; 11357414; 12032568; 12032570; 14576148; 14976260; 15164053; 16075242; 16150690; 16382100; 16636202; 17098283; 17217065; 17575980; 18029348; 18192217; 18258429; 18301276; 18365021; 18490453; 18660673; 18675813; 19073827; 19149903; 19329436; 19695239; 19937979; 20395377; 20700443; 20875900; 21073857; 21669885; 22180838; 22671428; 22733750; 22982920; 23689795 transient receptor potential cation channel, subfamily M, member 6 Ensembl:ENSG00000119121 HGNC:17995 HPRD:06112 MIM:607009 Vega:OTTHUMG00000020027 Other designations: channel kinase 2|melastatin-related TRP cation channel 6|transient receptor potential cation channel subfamily M member 6 TRPM6 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene SLC35F3 solute carrier family 35, member F3 148641 1q42.2 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0006810 (EC: IEA); GO_0016021 (EC: IEA) PMID: 12477932; 14702039; 19913121; 20379614; 20628086; 21963094; 23000965 solute carrier family 35, member F3 Other designations: solute carrier family 35 member F3 SLC35F3 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene TMEM213 transmembrane protein 213 155006 7q34 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0016021 (EC: IEA) PMID: 12477932; 14702039; 16344560 transmembrane protein 213 TMEM213 Bin Zhao, Yue Liu, Oliver He SMCT2 WEB: http://www.ncbi.nlm.nih.gov/gene SLC5A12 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 159963 11p14.2 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0006814 (EC: IEA); GO_0015293 (EC: IEA); GO_0016021 (EC: IEA); GO_0016324 (EC: IEA); GO_0070062 (EC: IDA, PMID: 19056867) PMID: 12477932; 15146197; 17692818; 19056867 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 Ensembl:ENSG00000148942 HGNC:28750 HPRD:15395 MIM:612455 Vega:OTTHUMG00000150706 Other designations: electroneutral sodium monocarboxylate cotransporter|low-affinity sodium-lactate cotransporter|sodium-coupled monocarboxylate transporter 2|sodium-iodide related cotransporter|solute carrier family 5 (sodium/glucose cotransporter), member 12|solute carrier family 5 member 12 SLC5A12 Bin Zhao, Yue Liu, Oliver He BDCA2 CD303 CLECSF11 CLECSF7 DLEC HECL PRO34150 WEB: http://www.ncbi.nlm.nih.gov/gene CLEC4C C-type lectin domain family 4, member C 170482 UNQ9361/PRO34150 12p13.2-p12.3 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0016021 (EC: IEA); GO_0030246 (EC: IEA); GO_0045087 (EC: IEA) PMID: 11031109; 11086035; 11536172; 11748283; 12386167; 12477932; 12975309; 15489334; 17850179; 18022864; 18684674; 19577819; 19829303; 20588308; 20888334; 21436634; 21880719; 23053572 C-type lectin domain family 4, member C Ensembl:ENSG00000198178 HGNC:13258 HPRD:09453 MIM:606677 Vega:OTTHUMG00000168441 Other designations: BDCA-2|C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 11|C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7|C-type lectin domain family 4 member C|C-type lectin superfamily member 7|blood dendritic cell antigen 2 protein|dendritic cell lectin b|dendritic lectin CLEC4C Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene SYNPO2 synaptopodin 2 171024 4q26 20140408 9606 4 protein-coding Official from a nomenclature committee GO_0003779 (EC: IEA); GO_0005515 (EC: IPI); GO_0005634 (EC: ISS); GO_0015629 (EC: IDA); GO_0030018 (EC: ISS); GO_0051371 (EC: ISS); GO_0071889 (EC: ISS) PMID: 8593614; 8889549; 11076863; 11230166; 11256614; 11673475; 12477932; 12637565; 12917631; 15111326; 15489336; 16381901; 17828378; 18371299; 19360353; 20332099; 20554076; 20936779; 21139048; 21643011; 22094256; 22252522; 22915763; 23434281; 23967269; 24005909 synaptopodin 2 Other designations: genethonin-2|myopodin|synaptopodin-2 SYNPO2 Bin Zhao, Yue Liu, Oliver He CTL5 WEB: http://www.ncbi.nlm.nih.gov/gene SLC44A5 solute carrier family 44, member 5 204962 1p31.1 20140408 9606 1 protein-coding Official from a nomenclature committee GO_0005886 (EC: TAS); GO_0006644 (EC: TAS); GO_0006656 (EC: TAS); GO_0016021 (EC: IEA); GO_0044281 (EC: TAS); GO_0046474 (EC: TAS); GO_0055085 (EC: TAS) PMID: 12477932; 14702039; 15489334; 15715662; 16344560; 20379614; 21116278; 22864933 solute carrier family 44, member 5 Ensembl:ENSG00000137968 HGNC:28524 HPRD:14580 Vega:OTTHUMG00000009721 Other designations: choline transporter-like protein 5 SLC44A5 Bin Zhao, Yue Liu, Oliver He ATP6D2 VMA6 WEB: http://www.ncbi.nlm.nih.gov/gene ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 245972 20140408 9606 8 protein-coding Official from a nomenclature committee GO_0005515 (EC: IPI, PMID: 18752060); GO_0005769 (EC: IEA); GO_0006879 (EC: TAS); GO_0008286 (EC: TAS); GO_0010008 (EC: TAS); GO_0015078 (EC: IEA); GO_0015991 (EC: IEA); GO_0016020 (EC: IDA, PMID: 18752060); GO_0016324 (EC: IDA, PMID: 15800125); GO_0016471 (EC: IDA, PMID: 18752060); GO_0030670 (EC: TAS); GO_0033179 (EC: IEA); GO_0033572 (EC: TAS); GO_0051701 (EC: TAS); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867); GO_0090382 (EC: TAS) PMID: 2874839; 11836511; 12384298; 12477932; 12788495; 14580332; 14597263; 14702039; 15800125; 17662945; 18752060; 19056867; 19818731; 21988832; 22379998 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 Ensembl:ENSG00000147614 HGNC:18266 HPRD:16522 Vega:OTTHUMG00000163637 Other designations: V-ATPase subunit d 2|V-type proton ATPase subunit d 2|vacuolar proton pump subunit d 2 ATP6V0D2 Bin Zhao, Yue Liu, Oliver He ATP6C2 VMA5 WEB: http://www.ncbi.nlm.nih.gov/gene ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 245973 20140408 9606 2 protein-coding Official from a nomenclature committee GO_0005765 (EC: IDA, PMID: 17897319); GO_0005829 (EC: TAS); GO_0006879 (EC: TAS); GO_0008286 (EC: TAS); GO_0008553 (EC: IEA); GO_0015991 (EC: IEA); GO_0033180 (EC: IEA); GO_0033572 (EC: TAS); GO_0051701 (EC: TAS); GO_0055085 (EC: TAS); GO_0070062 (EC: IDA, PMID: 19056867); GO_0090382 (EC: TAS) PMID: 2874839; 11836511; 12384298; 12477932; 12788495; 14580332; 14597263; 15203218; 16042619; 16344560; 17662945; 17897319; 19056867; 20379614; 23247143 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 Ensembl:ENSG00000143882 HGNC:18264 HPRD:16523 Vega:OTTHUMG00000090459 Other designations: V-ATPase C2 subunit|V-ATPase subunit C 2|V-type proton ATPase subunit C 2|vacuolar proton pump subunit C 2 ATP6V1C2 Bin Zhao, Yue Liu, Oliver He IL-27 IL-27A IL27A IL27p28 IL30 p28 WEB: http://www.ncbi.nlm.nih.gov/gene IL27 interleukin 27 246778 16p11 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0005102 (EC: ISS); GO_0005125 (EC: IEA); GO_0005615 (EC: ISS); GO_0006954 (EC: IEA); GO_0009617 (EC: IEA); GO_0042129 (EC: ISS); GO_0045078 (EC: IDA, PMID: 12734330); GO_0045087 (EC: IEA); GO_0045523 (EC: ISS); GO_0045625 (EC: IDA, PMID: 12734330); GO_0050688 (EC: IEA) PMID: 12121660; 12477932; 12734330; 14657353; 14764690; 15793300; 16670765; 16751375; 17068156; 17207965; 17318299; 17703412; 17985330; 18167155; 18178151; 18191724; 18424756; 18453571; 18482209; 18554158; 18557702; 19124747; 19148899; 19258923; 19380822; 19430480; 19523673; 19549909; 19556424; 19582813; 19620301; 19625647; 19657406; 19686419; 19798410; 19915574; 19924133; 20112358; 20176734; 20301193; 20375623; 20416175; 20435369; 20435892; 20454646; 20503287; 20519510; 20604932; 20817868; 20952070; 20971923; 20974984; 21102463; 21115047; 21182076; 21357266; 21360515; 21385171; 21420486; 21482740; 21545428; 21592822; 21622862; 21795063; 21829393; 22021194; 22040814; 22069308; 22210084; 22230324; 22343630; 22430249; 22621182; 22656398; 22678908; 22678911; 22701040; 22825627; 22837488; 22863719; 22876110; 22911112; 22965735; 23049843; 23086758; 23091017; 23101722; 23128233; 23209286; 23240078; 23280240; 23294976; 23333920; 23335749; 23395794; 23452095; 23464355; 23645091; 23711856; 23727477; 23731956; 23849453; 23904441; 23958647; 24352695 interleukin 27 Ensembl:ENSG00000197272 HGNC:19157 HPRD:16307 MIM:608273 Vega:OTTHUMG00000097023 Other designations: IL-27 p28 subunit|IL-27 subunit alpha|IL-27-A|IL27-A|interleukin 30|interleukin-27 subunit alpha IL27 Bin Zhao, Yue Liu, Oliver He MIKI WEB: http://www.ncbi.nlm.nih.gov/gene HEPACAM2 HEPACAM family member 2 253012 UNQ305/PRO346 7q21.3 20140408 9606 7 protein-coding Official from a nomenclature committee GO_0000139 (EC: IEA); GO_0005515 (EC: IPI); GO_0005794 (EC: IDA); GO_0005813 (EC: IDA); GO_0005819 (EC: IDA); GO_0007067 (EC: IEA); GO_0016021 (EC: IEA); GO_0030496 (EC: IDA); GO_0051297 (EC: IMP) PMID: 12477932; 12975309; 14702039; 16344560; 19358830; 22864114 HEPACAM family member 2 Ensembl:ENSG00000188175 HGNC:27364 HPRD:14138 MIM:614133 Vega:OTTHUMG00000131732 Other designations: mitotic kinetics regulator HEPACAM2 Bin Zhao, Yue Liu, Oliver He IGSF4D NECL3 Necl-3 SynCAM 2 synCAM2 WEB: http://www.ncbi.nlm.nih.gov/gene CADM2 cell adhesion molecule 2 253559 3p12.1 20140408 9606 3 protein-coding Official from a nomenclature committee GO_0005737 (EC: IEA); GO_0005886 (EC: TAS); GO_0007155 (EC: IEA); GO_0007420 (EC: IEA); GO_0016021 (EC: IEA); GO_0030054 (EC: IEA); GO_0030424 (EC: IEA); GO_0032809 (EC: IEA); GO_0034329 (EC: TAS); GO_0034332 (EC: TAS); GO_0045202 (EC: IEA); GO_0045216 (EC: TAS) PMID: 8889548; 12477932; 14702039; 16311015; 19861958; 20379614; 20935630; 21062931; 21864505; 22589738; 22832960; 23563607; 23643812; 24240726 cell adhesion molecule 2 Ensembl:ENSG00000175161 HGNC:29849 HPRD:11046 MIM:609938 Vega:OTTHUMG00000158990 Other designations: immunoglobulin superfamily member 4D|immunoglobulin superfamily, member 4D|nectin-like 3|nectin-like protein 3|synaptic cell adhesion molecule 2 CADM2 Bin Zhao, Yue Liu, Oliver He M-LPH MLPH1 MLPH2 MPV17L1 WEB: http://www.ncbi.nlm.nih.gov/gene MPV17L MPV17 mitochondrial membrane protein-like 255027 16p13.11 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0003674 (EC: ND); GO_0005102 (EC: IPI); GO_0005777 (EC: IDA, PMID: 16631601); GO_0005778 (EC: IEA); GO_0010730 (EC: IDA); GO_0016021 (EC: IEA); GO_0072593 (EC: IDA, PMID: 16631601); GO_1901029 (EC: IDA) PMID: 12477932; 14702039; 16341674; 16631601; 19322201; 21832049 MPV17 mitochondrial membrane protein-like HGNC:26827 HPRD:08803 Other designations: M-LP homolog|Mpv17-like protein type 1|Mpv17-like protein type 2|mpv17-like protein MPV17L Bin Zhao, Yue Liu, Oliver He C14orf48 c14_5713 WEB: http://www.ncbi.nlm.nih.gov/gene LINC00521 long intergenic non-protein coding RNA 521 256369 14q32.12 20140408 9606 14 ncRNA Official from a nomenclature committee PMID: 12477932; 14702039; 15014966; 15489334; 16189514 long intergenic non-protein coding RNA 521 Ensembl:ENSG00000175699 HGNC:19860 HPRD:12651 LINC00521 Bin Zhao, Yue Liu, Oliver He DNGR1 UNQ9341 WEB: http://www.ncbi.nlm.nih.gov/gene CLEC9A C-type lectin domain family 9, member A 283420 UNQ9341/PRO34046 12p13.2 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0006898 (EC: IDA, PMID: 18408006); GO_0009986 (EC: IDA, PMID: 18408006); GO_0016021 (EC: IEA); GO_0030246 (EC: IEA); GO_0050715 (EC: IDA, PMID: 18408006) PMID: 12975309; 18408006; 18497879; 18669894; 19219027; 20479117; 21677141; 22234694; 22442345; 22483800; 22483802; 24049150 C-type lectin domain family 9, member A Ensembl:ENSG00000197992 HGNC:26705 HPRD:16723 MIM:612252 Vega:OTTHUMG00000168398 Other designations: C-type lectin domain family 9 member A|HEEE9341 CLEC9A Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene CRB2 crumbs family member 2 286204 RP11-230L22.2 9q33.3 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0001707 (EC: ISS); GO_0001756 (EC: ISS); GO_0005509 (EC: IEA); GO_0005886 (EC: IEA); GO_0010718 (EC: ISS); GO_0014028 (EC: ISS); GO_0016021 (EC: IEA); GO_0030513 (EC: ISS); GO_0045199 (EC: ISS); GO_0070062 (EC: IDA, PMID: 19056867); GO_0072358 (EC: ISS) PMID: 11439336; 14702039; 14767562; 15164053; 15851977; 16344560; 17190600; 17988153; 19056867; 20299451; 20583170 crumbs family member 2 Other designations: crumbs homolog 2|crumbs-like protein 2|protein crumbs homolog 2 CRB2 Bin Zhao, Yue Liu, Oliver He CHX10 HOX10 MCOP2 MCOPCB3 RET1 WEB: http://www.ncbi.nlm.nih.gov/gene VSX2 visual system homeobox 2 338917 14q24.3 20140408 9606 14 protein-coding Official from a nomenclature committee GO_0003700 (EC: IEA); GO_0005634 (EC: IEA); GO_0005737 (EC: IEA); GO_0006351 (EC: IEA); GO_0007601 (EC: IEA); GO_0008284 (EC: IEA); GO_0008285 (EC: IEA); GO_0043565 (EC: IEA); GO_0045165 (EC: IEA); GO_0045944 (EC: IEA); GO_0050896 (EC: IEA); GO_0060040 (EC: IEA) PMID: 1973146; 9847074; 10932181; 11069920; 12477932; 12508121; 15257456; 15647262; 15909363; 16236706; 17661825; 18029348; 18385794; 18514541; 18648522; 19638341; 19843539; 20057906; 20301552; 20414678; 20494911; 20565746; 21976963 visual system homeobox 2 Ensembl:ENSG00000119614 HGNC:1975 HPRD:08852 MIM:142993 Vega:OTTHUMG00000171206 Other designations: ceh-10 homeo domain containing homolog|ceh-10 homeodomain-containing homolog|homeobox protein CHX10 VSX2 Bin Zhao, Yue Liu, Oliver He ACSM2 HXMA WEB: http://www.ncbi.nlm.nih.gov/gene ACSM2B acyl-CoA synthetase medium-chain family member 2B 348158 HYST1046 16p12.3 20140408 9606 16 protein-coding Official from a nomenclature committee GO_0003674 (EC: ND); GO_0005524 (EC: IEA); GO_0005739 (EC: NAS, PMID: 19634011); GO_0005759 (EC: TAS); GO_0006631 (EC: IEA); GO_0006805 (EC: TAS); GO_0044281 (EC: TAS); GO_0046872 (EC: IEA); GO_0047760 (EC: IEA) PMID: 8884467; 8934636; 10434065; 11415461; 12616642; 15122652; 15221005; 16521160; 19634011; 20679960 acyl-CoA synthetase medium-chain family member 2B Ensembl:ENSG00000066813 HGNC:30931 HPRD:17124 MIM:614359 Vega:OTTHUMG00000131555 Other designations: acyl-CoA synthetase medium-chain family member 2|acyl-coenzyme A synthetase ACSM2B, mitochondrial|butyrate--CoA ligase 2B|butyryl-coenzyme A synthetase 2B|middle-chain acyl-CoA synthetase 2B|xenobiotic/medium-chain fatty acid-CoA ligase HXM-A|xenobiotic/medium-chain fatty acid:CoA ligase ACSM2B Bin Zhao, Yue Liu, Oliver He NGRH1 NgR2 WEB: http://www.ncbi.nlm.nih.gov/gene RTN4RL2 reticulon 4 receptor-like 2 349667 11q12.1 20140408 9606 11 protein-coding Official from a nomenclature committee GO_0004872 (EC: IDA, PMID: 12694398); GO_0009897 (EC: IEA); GO_0009986 (EC: IDA); GO_0031103 (EC: TAS, PMID: 14664809); GO_0045121 (EC: IEA); GO_0046658 (EC: IDA, PMID: 12694398) PMID: 12477932; 12694398; 12839991; 14664809; 15489334; 15629437; 16554811; 18337405; 20360068; 21906273 reticulon 4 receptor-like 2 HGNC:23053 HPRD:11524 MIM:610462 Other designations: Nogo-66 receptor homolog 1|nogo receptor-like 3|nogo-66 receptor-related protein 2|reticulon-4 receptor-like 2 RTN4RL2 Bin Zhao, Yue Liu, Oliver He DFNB84 DFNB84A PTPGMC1 R-PTP-Q WEB: http://www.ncbi.nlm.nih.gov/gene PTPRQ protein tyrosine phosphatase, receptor type, Q 374462 12q21.2 20140408 9606 12 protein-coding Official from a nomenclature committee GO_0004725 (EC: IEA); GO_0016021 (EC: IEA); GO_0042472 (EC: IEA); GO_0045598 (EC: IDA, PMID: 19351528) PMID: 9727007; 12802008; 12837292; 16341674; 16344560; 19351528; 19888295; 20346435; 20379614; 20472657; 23897475 protein tyrosine phosphatase, receptor type, Q HGNC:9679 MIM:603317 Other designations: phosphatidylinositol phosphatase PTPRQ|phosphotidylinositol phosphatase PTPRQ|protein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells PTPRQ Bin Zhao, Yue Liu, Oliver He MIRN141 WEB: http://www.ncbi.nlm.nih.gov/gene MIR141 microRNA 141 406933 12p13.31 20140408 9606 12 ncRNA Official from a nomenclature committee PMID: 12007417; 14573789; 16381832; 17604727; 17616659; 18381893; 19363643; 19830559; 20053927; 20084174; 20514023; 20967756; 21238947; 21289630; 21445232; 21723797; 21726338; 21827717; 22101765; 22314666; 22384255; 22479552; 23045278; 23377530; 23554918; 23559187; 23663545; 24163379 microRNA 141 Ensembl:ENSG00000207708 HGNC:31528 MIM:612093 miRBase:MI0000457 MIR141 Bin Zhao, Yue Liu, Oliver He MIRN192 miR-192 miRNA192 WEB: http://www.ncbi.nlm.nih.gov/gene MIR192 microRNA 192 406967 11q13.1 20140408 9606 11 ncRNA Official from a nomenclature committee PMID: 12554859; 12554860; 12624257; 14573789; 16381832; 17604727; 19074876; 19088023; 20056746; 20647341; 20889907; 20951946; 21119604; 21372198; 21511813; 21672525; 21785383; 22205577; 22264233; 22433310; 23170939; 23612862; 23649428; 23715501; 23737550; 23737551; 23743335; 24012720 microRNA 192 Ensembl:ENSG00000207648 HGNC:31562 MIM:610939 miRBase:MI0000234 MIR192 Bin Zhao, Yue Liu, Oliver He MIRN200A WEB: http://www.ncbi.nlm.nih.gov/gene MIR200A microRNA 200a 406983 1p36.33 20140408 9606 1 ncRNA Official from a nomenclature committee PMID: 12554859; 15634332; 15891114; 16381832; 17604727; 17616659; 18381893; 19501389; 19671845; 19703993; 19931509; 20124485; 20167074; 20473948; 20514023; 20551052; 20826811; 21051560; 21115742; 21237487; 21285251; 21529905; 21596753; 21698760; 21837748; 21926171; 21955614; 22077060; 22082152; 22101765; 22161972; 22183793; 22294131; 22529366; 22957494; 22987275; 23074016; 23318438; 23329838; 23340296; 23381389; 23455327; 23525011; 23679328; 23708087; 23760980; 23774697; 23784775; 23872359; 23938385 microRNA 200a Ensembl:ENSG00000207607 HGNC:31578 MIM:612090 miRBase:MI0000737 MIR200A Bin Zhao, Yue Liu, Oliver He MIRN200B WEB: http://www.ncbi.nlm.nih.gov/gene MIR200B microRNA 200b 406984 1p36.33 20140408 9606 1 ncRNA Official from a nomenclature committee PMID: 12769849; 14573789; 15891114; 16381832; 17585049; 17604727; 17616659; 18381893; 19501389; 19671845; 19801681; 20514023; 20551052; 20574809; 20668090; 20683643; 20832727; 21049046; 21051560; 21079000; 21081489; 21237487; 21725369; 22139708; 22183793; 22231446; 22294131; 22311119; 22522429; 22703336; 22804917; 23074016; 23169479; 23205572; 23223443; 23318438; 23389960; 23455327; 23483548; 23492772; 23543137; 23708087; 23760980; 23774697; 23851184; 23867826; 23872359; 24064224; 24067373; 24072701; 24174534 microRNA 200b Ensembl:ENSG00000207730 HGNC:31579 MIM:612091 miRBase:MI0000342 MIR200B Bin Zhao, Yue Liu, Oliver He MIRN200C WEB: http://www.ncbi.nlm.nih.gov/gene MIR200C microRNA 200c 406985 12p13.31 20140408 9606 12 ncRNA Official from a nomenclature committee PMID: 14573789; 15183728; 16381832; 17604727; 17616659; 17804704; 18381893; 19502803; 19665978; 19801681; 20084174; 20514023; 20620960; 20696752; 21051560; 21224847; 21224848; 21237487; 21248297; 21345725; 21501518; 21516486; 21527937; 21873159; 21899661; 22015043; 22100809; 22101791; 22144583; 22183793; 22223089; 22364742; 22384255; 22407310; 22522429; 22562822; 22615771; 22641662; 22685266; 22707408; 22735571; 22954417; 22982443; 22991189; 23041061; 23185507; 23272142; 23394580; 23455327; 23546450; 23708087; 23754305; 23788640; 23872359; 23950995; 24135722 microRNA 200c Ensembl:ENSG00000207713 HGNC:31580 MIM:612092 miRBase:MI0000650 MIR200C Bin Zhao, Yue Liu, Oliver He MIRN205 WEB: http://www.ncbi.nlm.nih.gov/gene MIR205 microRNA 205 406988 1q32.2 20140408 9606 1 ncRNA Official from a nomenclature committee PMID: 12624257; 16381832; 17604727; 17616659; 18719201; 19033458; 19144710; 19190970; 19238171; 19244118; 19665999; 19839716; 20167074; 20428818; 20436283; 20530248; 20588024; 20889907; 21237487; 21263248; 21330408; 21363915; 21368878; 21372198; 21426561; 21453382; 21454583; 21787752; 22159356; 22223089; 22294324; 22356767; 22374676; 22391564; 22514717; 22525428; 22555458; 22578566; 22631664; 22782668; 22859986; 22869146; 22871739; 22890556; 22949650; 22987275; 23041061; 23056551; 23125283; 23212344; 23239884; 23297865; 23447575; 23571738; 23589079; 23612742; 23683741; 23856247; 23950153; 23994666; 24129185; 24314651; 24370341 microRNA 205 HGNC:31583 MIM:613147 miRBase:MI0000285 MIR205 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene NRARP NOTCH-regulated ankyrin repeat protein 441478 RP13-122B23.6 9q34.3 20140408 9606 9 protein-coding Official from a nomenclature committee GO_0000122 (EC: IEA); GO_0001569 (EC: IBA); GO_0001938 (EC: IBA); GO_0002043 (EC: IBA); GO_0022407 (EC: IEA); GO_0032525 (EC: IEA); GO_0045581 (EC: IEA); GO_0045746 (EC: IMP, PMID: 19154719); GO_0090263 (EC: IMP, PMID: 19154719); GO_1902367 (EC: IEA) PMID: 12477932; 16712791; 17207965; 19154719; 20098747 NOTCH-regulated ankyrin repeat protein Other designations: notch-regulated ankyrin repeat-containing protein NRARP Bin Zhao, Yue Liu, Oliver He MIRN429 hsa-mir-429 WEB: http://www.ncbi.nlm.nih.gov/gene MIR429 microRNA 429 554210 1p36.33 20140408 9606 1 ncRNA Official from a nomenclature committee PMID: 15735639; 15891114; 16381832; 17604727; 17616659; 18381893; 19501389; 19801681; 20484493; 20514023; 20668090; 21079000; 21277012; 21785383; 22576799; 23111103; 23559187 microRNA 429 Ensembl:ENSG00000198976 HGNC:13784 MIM:612094 miRBase:MI0001641 MIR429 Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene 879877 PA3418 20140405 208964 protein-coding NCBI-supplied PMID: 10984043; 12644476; 12644477; 15608211; 15716452; 15908409; 15995206; 16030221; 17015649; 18978025 leucine dehydrogenase ldh Bin Zhao, Yue Liu, Oliver He WEB: http://www.ncbi.nlm.nih.gov/gene 882262 PA1338 20140405 208964 protein-coding NCBI-supplied PMID: 10984043; 12644476; 12644477; 15608211; 15716452; 15908409; 15995206; 16030221; 17015649; 18978025 gamma-glutamyltranspeptidase ggt Bin Zhao, Yue Liu, Oliver He CD24A WEB: http://www.ncbi.nlm.nih.gov/gene CD24 CD24 molecule 100133941 6q21 20140408 9606 6 protein-coding Official from a nomenclature committee GO_0001666 (EC: IEP, PMID: 15174142); GO_0001775 (EC: IDA, PMID: 8223854); GO_0001959 (EC: ISS, PMID: 16390867); GO_0002237 (EC: ISS, PMID: 15493995); GO_0002768 (EC: IC, PMID: 11313396); GO_0004871 (EC: NAS, PMID: 8213086); GO_0005515 (EC: IPI, PMID: 15633604); GO_0005886 (EC: IEA); GO_0007204 (EC: IDA, PMID: 2153173); GO_0007411 (EC: TAS); GO_0009986 (EC: IDA, PMID: 16532032); GO_0016020 (EC: IDA, PMID: 10037815); GO_0016055 (EC: NAS, PMID: 16532032); GO_0016337 (EC: NAS, PMID: 15633604); GO_0016477 (EC: ISS, PMID: 16390867); GO_0019901 (EC: IPI, PMID: 8753773); GO_0030296 (EC: IDA, PMID: 11313396); GO_0030856 (EC: NAS, PMID: 16930538); GO_0031225 (EC: IEA); GO_0031295 (EC: IDA, PMID: 11272271); GO_0032597 (EC: IDA, PMID: 11313396); GO_0032600 (EC: ISS); GO_0032913 (EC: IMP, PMID: 16930538); GO_0042104 (EC: IDA, PMID: 11272271); GO_0042325 (EC: IDA, PMID: 11313396); GO_0042632 (EC: ISS, PMID: 16390867); GO_0043406 (EC: IDA, PMID: 12496407); GO_0043408 (EC: IDA, PMID: 11313396); GO_0043627 (EC: IEP, PMID: 10037815); GO_0045121 (EC: IDA, PMID: 11313396); GO_0045730 (EC: IDA, PMID: 8223854); GO_0061098 (EC: IDA, PMID: 11313396); GO_0072112 (EC: IMP, PMID: 19092120); GO_0072139 (EC: IMP, PMID: 19092120); GO_0097193 (EC: NAS, PMID: 11313396); GO_2000768 (EC: IMP, PMID: 16885410) PMID: 1327504; 1831224; 2153173; 7553654; 7736776; 7959762; 8213086; 8223854; 8753773; 8928617; 9129046; 10037815; 10575223; 11272271; 11313396; 12218294; 12368195; 12447971; 12477932; 12496407; 12610508; 12829373; 14657362; 14702039; 15174142; 15489334; 15493995; 15616015; 15633604; 16125303; 16164042; 16166435; 16288985; 16390867; 16532032; 16621031; 16631259; 16681720; 16885410; 16890615; 16892043; 16900767; 16930538; 17411341; 17475624; 17540049; 17700640; 17763438; 17900673; 17944116; 17950993; 17980703; 18381780; 18384848; 18404683; 18413748; 18417991; 18495204; 18559090; 18566397; 18632604; 18752058; 19043399; 19050962; 19072375; 19092120; 19130400; 19243896; 19610054; 19706825; 19725119; 19786366; 19787233; 19794958; 19860845; 19896210; 19906290; 19946098; 19998456; 20019840; 20177845; 20199686; 20230526; 20336055; 20354454; 20378664; 20405247; 20491779; 20567952; 20574427; 20619441; 20621328; 20628624; 21041728; 21086907; 21147107; 21266361; 21299347; 21308865; 21359202; 21536545; 21633165; 21641619; 21666711; 21676268; 21684315; 21697762; 21710320; 21726833; 21802218; 21806966; 21813394; 21815873; 21824412; 21828044; 21835433; 21849440; 21935375; 21956537; 21961844; 21984372; 22014860; 22119938; 22135002; 22237177; 22262195; 22322379; 22335271; 22354323; 22369943; 22480875; 22500096; 22528516; 22529013; 22610780; 22731636; 22745528; 22760497; 22800863; 22839505; 22855175; 22926560; 23011824; 23012401; 23028444; 23087328; 23112116; 23143956; 23300877; 23314606; 23318912; 23396061; 23398509; 23419168; 23532603; 23539485; 23600676; 23679566; 23679813; 23775727; 23836489; 23852892; 24166603 CD24 molecule HGNC:1645 MIM:600074 Other designations: CD24 antigen (small cell lung carcinoma cluster 4 antigen)|signal transducer CD24 CD24 A representation that is either the output of a clinical history taking or a physical examination or an image finding, or some combination thereof. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2010-07-19T10:18:02Z clinical finding A series of statements representing health-relevant qualities of a patient and of a patient's family. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2010-07-19T10:18:59Z clinical history A representation of an image that supports an inference to an assertion about some quality of a patient. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T10:21:10Z image finding A representation of a quality of a specimen that is the output of a laboratory test and that can support an inference to an assertion about some quality of the patient. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T10:21:58Z laboratory finding A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:21:20Z disease A process in which at least one bodily component of an organsim participates. Albert Goldfain http://www.jbiomedsem.com/content/1/1/10 creation date: 2009-06-23T11:53:49Z From OGMS: http://purl.obolibrary.org/obo/OGMS_0000060 bodily process A bodily process that is clinically abnormal. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T11:54:29Z pathological bodily process The representation of a conclusion of a diagnostic process. Albert Goldfain http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf creation date: 2009-06-23T12:42:23Z diagnosis TODO: Define. Albert Goldfain http://code.google.com/p/ogms/issues/detail?id=26 creation date: 2009-11-24T04:51:11Z physical examination finding From OGMS: http://purl.obolibrary.org/obo/OGMS_0000087 extended organism A planned process whose completion is hypothesized by a health care provider to eliminate, prevent, or alleviate a disorder, the signs and symptoms of a disorder, or a pathological process A processual entity whose completion is hypothesized (by a healthcare provider) to alleviate the signs and symptoms associated with a disorder Albert Goldfain http://code.google.com/p/ogms/issues/detail?id=35 creation date: 2010-03-31T04:51:11Z http://purl.obolibrary.org/obo/ogms.owl treatment A planned process with the objective to improve the health status of a patient that directly involves the treatment, diagnosis, or prevention of disease or injury of a patient Albert Goldfain Sagar Jain http://groups.google.com/group/ogms-discuss/browse_thread/thread/a2dbc2ed1dff99d6 creation date: 2011-02-21T09:57:44Z editor date: 2017-04-18 health care process A temporally-connected health care process that has as participants an organization or person realizing the health care provider role and a person realizing the patient role. The health care provider role and patient are realized during the health care encounter Albert Goldfain http://groups.google.com/group/ogms-discuss/browse_thread/thread/a2dbc2ed1dff99d6 creation date: 2011-02-21T09:57:44Z health care encounter A part of an organism that has undergone a change in structural integrity and has a higher chance of dysfunction or causing dysfunction in another structure. At the scale of organism (as opposed to the cellular scale or the population scale), an injury is typically the result of a catastrophic event. Consider the implications of making 'injury' a subtype of 'disorder'. Albert Goldfain http://groups.google.com/group/ogms-discuss/browse_thread/thread/ca0ad373f27774c5 creation date: 2011-09-20T09:57:44Z http://purl.obolibrary.org/obo/ogms.owl injury A health care process that involves the interpretation of a clinical picture from a given patient (input) and the assertion to the effect that the patient has a disease, disorder, or syndrome of a certain type, or none of these (output). Albert Goldfain http://groups.google.com/group/ogms-discuss/browse_thread/thread/2a7008f311fac766/e7de486c94dfd82e creation date: 2011-09-20T09:57:44Z diagnostic process A data item that is about a patient and is the specified output of a health care process assay or diagnostic process creation date: 2018-11-27 clinical data item Social Security Number(SSN) is a Centrally Registered IDentifier that is a nine-digit number issued to U.S. citizens, permanent residents, and temporary (working) residents under section 205(c) of the Social Security Act, codified as 42 U.S.C. § 405(c). The number is issued to an individual by the Social Security Administration, an independent agency of the United States government. Its primary purpose is to track individuals for Social Security purposes. SSN http://en.wikipedia.org/wiki/Social_Security_number Cheng Chen(cxchen1@ualr.edu) social security number A social role inhering in a human being. Mathias Brochhausen William R. Hogan human social role party to a legal entity party to a legal proceeding party to a legal agreement party to a marriage contract party to a power of attorney A human social role borne by a human being being realized in behaviour which is considered socially appropriate for individuals of a specific sex in the context of a specific culture. Mathias Brochhausen http://en.wikipedia.org/wiki/Gender_role gender role A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the male sex in the context of the culture in question. Mathias Brochhausen male gender male gender role A gender role borne by a human being that is realized in behaviour which is considered socially appropriate for individuals of the female sex in the context of the culture in question. Mathias Brochhausen female gender female gender role A role in human social processes that is realized by health care processes such as seeking or providing treatment for disease and injury, diagnosing disease and injury, or undergoing diagnosis. William R. Hogan health care role Mathias Brochhausen human health care role A role borne by an organism and that is realized by presenting to a health care provider in a clinical encounter. Amanda Hicks Mathias Brochhausen patient CAFE domain expert working group. In order to avoid the presumption of the formal structures and institutions of Western civilization, bearing a patient role does not entail that the organism presents at an official place of business, with an organization formally and legally registered with various gov't entities, with a person endowed by the gov't with certain certifications. patient role A human health care role inhering in an organization or human being that is realized by a process of providing health care services to an organism. Mathias Brochhausen William R. Hogan health care provider role A health care role borne by a human being and realized by promoting, maintaining or restoring human health through the study, diagnosis, and treatment of disease, injury and other physical and mental impairments. Mathias Brochhausen physician http://en.wikipedia.org/wiki/Physician physician role A health care role borne by a human being and realized by the care of individuals, families, and communities so they may attain, maintain, or recover optimal health and quality of life. Mathias Brochhausen nurse based on: http://en.wikipedia.org/wiki/Nursing nurse role Definition needed, but the idea is that we want to differentiate between provider and payer organizations. Some organizaitons have both roles (e.g., UPMC has a Hospital Division, a Physician Divison, and an Insurance Division). health care provider organization role person health care provider role 2 A health care provider organization role that inheres in an organization consisting of two or more physicians. Amanda Hicks physician practice A health care provider organization role that inheres in an organization that is comprised of other organizations. Amanda Hicks integrated delivery network An object aggregate of organisms. Any arbitrary collection of organisms. They need not be of the same taxonomic class. collection of organisms An object aggregate all of whose components are human beings. collection of humans A role inhering in an entity realized by social interactions in human society. Mathias Brochhausen Previous definition: A role played by an entity in human social processes. role in human social processes A role in human social processes that inheres in an organization. William R. Hogan Defined class that we will ultimately move to an application ontology. We are leaving here for now until we determine which application ontology: it is likely going to be an ontology that does not currently (2012-06-05) exist. Ditto for its current descendants. organization social role A role in human social processes that inheres in an organism. William R. Hogan Mathias Brochhausen Defined class that we will ultimately move to an application ontology. We are leaving here for now until we determine which application ontology: it is likely going to be an ontology that does not currently (2012-06-05) exist. Ditto for its current descendants. Includes animals as well as humans. For example, pet, assistance animal, animal grown for food, work animal, domesticated animal, K-9, etc. Human roles include gender role, party to legal entities, health care provider roles like doctor, nurse, etc. Previous definition: A role in human social processes played by an organism. organism social role An organization social role that is realized by a health care process. Previous definition: An organization social role played by an organization in health care processes. organization health care role A patient role that inheres in a human being. human patient role 2 An object aggregate that is not itself an organization and whose members are only organizations that have some feature in common William R. Hogan Amanda Hicks It is often convenient to group organizations together that otherwise might not even interact with one another. aggregate of organizations A role borne by a human individual or by a collection of humans regarded as possessing rights and duties enforeable at law. Mathias Brochhausen Malcolm N. Shaw: International Law. Cambridge University Press, Cambridge, 2008. We are aware of the fact that Wikipedia's definition differs from ours by saying that "Legal personality (...) is the characteristic of a non-living entity regarded by law to have the status of personhood" (http://en.wikipedia.org/wiki/Legal_personality) However, Shaw explicates: "In any legal system, certain entities, whether they be individuals or companies, will be regarded as possessing rights and duties enforceable at law. Thus an individual may prosecute or be prosecuted for assault and a company can sue for breach of contract. They are able to do this because the law recognises them as 'legal persons' possessing the capacity to have and to maintain certain rights, and being subject to perform specific duties. (...) In municipal law individuals, limited companies and public corporations are recognized as each possessing a distinct legal personality, the terms of which are circumscribed by the relevant legislation" (Shaw MN: International Law. Sixth Edition. Cambridge University Press, Cambridge, 2008). We hold that Shaw's position is ontological more prolific since it not only allows to explain how groups of individuals become recognized as unities at law, but also how different individuals can hold different legal personality roles (always against the context of one legal system). The latter will proof useful when dealing with the representing comatous patients or minorsat law in ontologies. legal person role A role that inheres in an organism and is realized by habitually smoking tobacco products. smoker role material entity role A healthcare provider role that inheres in an organization and is realized by providing inpatient and outpatient care. Mathias Brochhausen hospital role An organization social role that inheres in an organization and is realized by providing formal education to students. Mathias Brochhausen school role An organization that is the bearer of a school role. Mathias Brochhausen school organization A human social role that is realized by the process of formal education that the bearer undergoes. Mathias Brochhausen student role Mathias Brochhausen nursery school role Mathias Brochhausen primary school role Mathias Brochhausen secondary school role A trauma patient role that inheres in a homo sapiens who is under the age of 15 years. Amanda Hicks pediatric trauma patient The following definition for 'pediatric trauma patient' was approved by the CAFE team of domain experts (experts in trauma care) May 29, 2015. "A trauma patient who is under the age of 15 years." pediatric trauma patient role A patient role that inheres an organism suffering one or more injuries. Amanda Hicks injured patient The following definition for 'injured patient' was approved by the CAFE team of domain experts (experts in trauma care) May 29, 2015. A patient suffering one or more injuries. injured patient role A patient role that inheres in an organism suffering a thermal, electrical, chemical or radiation burn. Amanda Hicks The following definition for 'burn patient' was approved by the CAFE team of domain experts (experts in trauma care) May 29, 2015. A patient suffering a thermal, electrical, chemical or radiation burn. burn patient burn patient role A physician role that is created by training and certification in rehabilitation/physical medicine and that is realized by the provision of or supervising of the provision of rehabilitation or physical therapy to a patient. Amanda Hicks physiatrist The following definition for 'physiatrist' was approved by the CAFE team of domain experts (experts in trauma care) May 29, 2015. A physician with training and certification in rehabilitation/physical medicine. Definition updated May 5, 2016. Original definitions was, a health care role borne by a human being and realized by training and certification in rehabilitation medicine. physiatrist role A patient role that inheres in an organism with some non-superficial traumatic injury. The role is realized by admision to a hospital, transfer from one hospital to another for the purpose of trauma care, or has death as a result of the traumatic injury. Amanda Hicks trauma patient The following definition for 'trauma patient' was approved by the CAFE team of domain experts (experts in trauma care) May 29, 2015. A patient sustaining an injury who has been admitted to the hospital, transferred from one hospital to another for the purpose of trauma care, or has died as a result of the traumatic injury. trauma patient role A function that inheres in a material entity and, if realized, is realized by protecting persons and their possessions from weather and by some person or group of persons habitually sleeping in at least one site that is contained by that material entity. Amanda Hicks residence function A human or collection of humans that occupies a housing unit by storing their possessions there and habitually sleeping there thereby participating in the realization of its residence function. Amanda Hicks household Amanda hicks employee employee role A US cenus reference person role is a human social role that inheres in a Homo sapiens who is a member of a household and is realized by other persons in the household being recorded in the US census in relation to that person. Amanda Hicks http://www.census.gov/cps/about/cpsdef.html last accessed June 30, 2015 US Census reference person role A role that concretizes a socio-lega generically dependent continuant Amanda Hicks socio-legal human social role A socio-legal human social role that concretizes a socio-legally generically dependent continuat that was created by a declaration performed by an organization. Amanda Hicks human role within an organization employer role payer role party to an insurance policy Amanda Hicks A US Census unemployed role is a human social role that inheres in a human who is legally eligible to work, is conferred by the U.S. Census Bureau, and is realized by the bearer not working and either making active efforts to find employment in the four weeks prior to the reference week or waiting to be recalled from temporary layoff. US Census unemployed role A human health care provider role that inheres in a human being that is created by state licensing and that is realized by taking patient histories, performing physical exams, diagnosing illnesses, developing treatment plans, ordering lab tests, prescribing medications, counselling and educating patients, suturing wounds, and assisting in surgery under the supervision of a physician or a surgeon. US physician assistant role A physician role that inheres a human being and, if it is realized, is realized either by administering medication for the temporary general or local suppression of sensory or motor nerve function during some health care encounter or by making decisions independently of a supervising physician regarding the adminstration of such medication. anesthesiologist role surgeon role A surgeon role realized by its bearer using performing neurosurgery. neurosurgereon role A role that inheres in an organism and is realized by habitually smoking 10 or more tobacco cigerettes a day or the equivalent in other tobacco products. heavy smoker role A role that inheres in an organism and is realized by habitually smoking 1>10 tobacco cigerettes a day or the equivalent in other tobacco products. light smoker role employment data income data government assistance health care plan data health care plan data government assistance income data WIC data socio-economic data A planned process that achieves the planned objective of precision medicine objective. Specifically, it is a medical process that includes the customization of healthcare, with medical decisions, treatments, practices, or products being tailored to the individual patient. Oliver He, Jie Zheng https://en.wikipedia.org/wiki/Precision_medicine precision medicine process An investigation that is targeted for precision medicine https://en.wikipedia.org/wiki/Precision_medicine precision medicine investigation the number of people living together supported jointly by an household income https://www.healthcare.gov/income-and-household-information/household-size/ We may use IRS's definition: https://www.healthcare.gov/income-and-household-information/household-size/ household size more than 5.5 pounds (2500 grams) birth weight less than 5.5 pounds (2500 grams) birth weight unknown birth weight birth weight declined to answer individual plan insurance (paid by the member) group plan insurance through employee union USA government health plan insurance no insurance status body temperature measured orally body temprature by ear (tempanic, aural) body temprature by forhead arterial line body temperature What is other? body temprature by other measurement An education level that indicates a grade of higher than 7th but lower than 12 as the highest level of educational achievement. higher than 7th but less than 12th Grade education level direct serum bilirubin level precision medicine objective An education level that indicates the 7th grade complete or less as the highest level of educational achievement. less than 8th Grade education level An education level that indicates that the highest level of education achievement for a person is a high school completion, GED, or equivalent high school completion, GED or equivalent An information content entity that is the answer to a specific question Fred Dowd, Oliver He answer to question An answer to question where the answer is Yes. Oliver He, Fred Dowd yes answer to question An answer to question where the answer is No. Fred Dowd, Oliver He no answer to question An answer to question that indicates the response to the specified question is unknown. Fred Dowd, Oliver He, Edison Ong do not know answer to question unknown answer to question A do not know answer to question that is answered due to data unavailable Fred Dowd, Oliver He do not know due to data unavailable answer to question An answer to question where one declines to answer the specified question. Fred Dowd, Oliver He decline to answer declined to provide refuse to answer refused to answer declined to answer to question An answer to question that is not enumerated in the list and then may be entered with free text in a separate text box Oliver He, Fred Dowd other answer to question An answer to question that is not listed in the whole list of response options Oliver He, Fred Dowd none answer to question A textual entity that is a question presented in text Fred Dowd, Oliver He textual question medical history form A form with questions that is used to assess a person's eligibility to participate in a specific study (e.g., kidney precision medicine project). Fred Down, Oliver He eligibility assessment form A form with questions that includes statistical data related to particular groups within a population where a person belongs to Fred Dowd, Oliver He demographics form https://www.investopedia.com/terms/d/demographics.asp demographic information form physical measurement form A textual question that includes a list of enumerated answers Fred Dowd, Oliver He question with enumerated responses A question that has two primary and definitive answers: Yes and No, and there may be other given options like Don't know or Decline to answer. Fred Dowd, Oliver He question with yes and no responses A question with enumerated responses where one can only choose one answer. Fred Dowd, Oliver He question with enumerated responses where only one answer chosen A question with enumerated responses where one can choose multiple answers. Fred Dowd, Oliver He question with enumerated responses where multiple answers may be chosen A case report form (or CRF) is a paper or electronic questionnaire specifically used in clinical trial research Oliver He, Edison Ong, Fred Dowd, Hong Yu CRF https://en.wikipedia.org/wiki/Case_report_form https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170533/ case report form Fred Down, Oliver He laboratory result form Fred Down, Oliver He new patient form Fred Down, Oliver He biopsy procedure form kidney biopsy procedure form Fred Down, Oliver He consent form Fred Down, Oliver He paper form Medical records release form is usually required to be a paper form that should be signed by the patient who agrees to have his/her medical records released. Fred Dowd, Oliver He paper form with signature required A public health process that involves clean drinking water and adequate treatment and disposal of human and animal excreta and sewage. https://en.wikipedia.org/wiki/Sanitation sanitation A form that includes the information of contact for a person Edison Ong, Oliver He contact information form biosample collection form clinic reception form medications form participant study status form hospitalization form personal history form AKI hospitalization form CKD hospitalization form Fred Dowd, Oliver He This should be a paper form participant reported outcome measures form health literacy questionnaire form biopsy safety checklist form post biopsy form A clinical report form that covers the information about the tracking of biopsied tissue tissue tracking form pathology images upload form Dx core - .jpg images QC form diagnostic core .jpg images QC form Dx core - disease categories form diagnostic core - disease categories form central path quality metrics assessment Dx core form central path quality metrics assessment interrogation core form post-biopsy patient experience survey form adverse event entry form month of year The first month of the year in the Gregorian calendar https://en.wikipedia.org/wiki/Gregorian_calendar January The second month of the year in the Gregorian calendar. https://en.wikipedia.org/wiki/Gregorian_calendar February The third month of the year in the Gregorian calendar. https://en.wikipedia.org/wiki/Gregorian_calendar March The4th month of the year in the Gregorian calendar https://en.wikipedia.org/wiki/Gregorian_calendar April The 5th month of the year in the Gregorian calendar https://en.wikipedia.org/wiki/Gregorian_calendar May The 6th month of the year in the Gregorian calendar https://en.wikipedia.org/wiki/Gregorian_calendar June The 7th month of the year in the Gregorian calendar https://en.wikipedia.org/wiki/Gregorian_calendar July The 8th month of the year in the Gregorian calendar https://en.wikipedia.org/wiki/Gregorian_calendar August The 9th month of the year in the Gregorian calendar https://en.wikipedia.org/wiki/Gregorian_calendar September The 10th month of the year in the Gregorian calendar https://en.wikipedia.org/wiki/Gregorian_calendar October The 11th month of the year in the Gregorian calendar https://en.wikipedia.org/wiki/Gregorian_calendar November The 12th month of the year in the Gregorian calendar https://en.wikipedia.org/wiki/Gregorian_calendar December A day of a calendar week that includes covers 24 hours each day. https://en.wikipedia.org/wiki/Week day of week The first day of the week. https://en.wikipedia.org/wiki/Week Monday The second day of the week. https://en.wikipedia.org/wiki/Week Tuesday The third day of the week. https://en.wikipedia.org/wiki/Week Wednesday The fourth day of the week. https://en.wikipedia.org/wiki/Week Thursday The fifth day of the week. https://en.wikipedia.org/wiki/Week Friday The 6th day of the week. https://en.wikipedia.org/wiki/Week Saturday The 7th day of the week. https://en.wikipedia.org/wiki/Week Sunday A day when an organism (e.g., a human) is born. Oliver He, Long Tran birth date https://www.ohdsi.org/web/wiki/doku.php?id=documentation:cdm:person day of birth the anniversary of the birth of a person Oliver He https://en.wikipedia.org/wiki/Birthday There is a difference between birthday and birthdate: The former, such as February 29, occurs each year, while the latter is the exact date a person was born (e.g., January 15, 2001). birthday information associated with an individual Oliver He https://www.oic.qld.gov.au/guidelines/for-government/access-and-amendment/introduction-to-the-acts/what-is-personal-information personal information A name of a person, which can have different types human name https://en.wikipedia.org/wiki/Personal_name person name Christian name forename given name https://en.wikipedia.org/wiki/Personal_name person first name family name surname https://en.wikipedia.org/wiki/Personal_name person last name https://en.wikipedia.org/wiki/Personal_name person middle name 患者本人在公安户籍管理部门正式登记注册的姓氏和名称 Suyuan Peng, Hong Yu, Yongqun He https://en.wikipedia.org/wiki/Personal_name 《电子病历基本数据集 第10部分：住院病案首页》WS 445.10-2014 person full name A person name that identifies a person for legal, administrative and other official purposes Oliver He legal name https://en.wikipedia.org/wiki/Legal_name person legal name A person name that is given at birth birth name A person name that is used for a person to access a computer system. person login username A woman's surname before marriage Edison Ong, Oliver He https://en.wikipedia.org/wiki/Maiden_and_married_names maiden name A person name that is fictitious and generated for a person to perform a particular social role. pseudonym Personal information that indicates a person's status in marriage https://en.wikipedia.org/wiki/Marital_status marital status civil status married https://en.wikipedia.org/wiki/Marital_status married marital status single marrital status divorced marrital status A marital status that indicates no marriage status due to the death of his/her spouse and no remarriage. Oliver He https://en.wikipedia.org/wiki/Widow widowed marrital status legally separated marital status not married marital status An education level that indicates that the highest level of education achievement for a person. Oliver He, Edison Ong highest degree of education completed highest degree of education received highest degree of school completed education level A telephone number is a sequence of digits assigned to a fixed-line telephone subscriber station connected to a telephone line or to a wireless electronic telephony device, such as a radio telephone or a mobile telephone, or to other devices for data transmission via the public switched telephone network (PSTN) or other public and private networks. Oliver He phone number https://en.wikipedia.org/wiki/Telephone_number telephone number A telephone number used for a phone at home Oliver He home phone number home telephone number A telephone number used for a phone at work Oliver He work phone number work telephone number A telephone number that is used in a cellular device Oliver He cell phone number cellular phone number cellular telephone number The status of actively looking for employment, but not being currently employed. joblessness unemployment https://en.wikipedia.org/wiki/Unemployment NCIT_C75563 C0041674 unemployment status home postal address work postal address A series of letters or digits or both, sometimes including spaces or punctuation, included in a postal address for the purpose of sorting mail. Oliver He post code postcode https://en.wikipedia.org/wiki/Postal_code postal code A ZIP Code is a postal code used by the United States Postal Service (USPS). The term ZIP is an acronym for Zone Improvement Plan. Oliver He, Fred Dowd https://en.wikipedia.org/wiki/ZIP_Code ZIP code The personal information that indicates an individual's or his/her family's economic and social position in relation to others, based on income, education, and occupation. Oliver He https://en.wikipedia.org/wiki/Socioeconomic_status socioeconomic status An socioeconomic status that indicates the status of being employed in an occupation to perform an activity or service for wage or salary. It is the status of a worker in a company or institute on the basis of the contract of work or duration of work done. Oliver He https://definitions.uslegal.com/e/employment-status/ https://en.wikipedia.org/wiki/Employment NCIT_C25172 C0014003 employment status A state of employment in which a person works for a minimum number of hours defined as full-time by their employer. https://en.wikipedia.org/wiki/Full-time NCIT_C52658 C0682295 full time employment status a status of employment that carries fewer hours per week than a full-time job. part-time contract part-time employment https://en.wikipedia.org/wiki/Part-time_contract NCIT_C75562 C0682294 part time employment status an employment status where the work is arranged and paid on a hourly basis. NCIT_C116002 C0681101 hourly employment status The state of working for oneself rather than an employer. https://en.wikipedia.org/wiki/Self-employment NCIT_C116000 C0425092 self-employment status An employment situation where the working arrangement is limited to a certain period of time based on the needs of the employing organization. odd job temporary work https://en.wikipedia.org/wiki/Temporary_work temporary employment status An education level that indicates that the highest level of education achievement for a person is a Master's degree. M.S. degree education level MS degree completed Master's degree education level An education level that indicates that the highest level of education achievement for a person is an academic Doctorate degree Ph.D. degree education level PhD degree completed academic Doctorate degree education level An education level that indicates that a person does not have formal school education. no formal school education level An education level that indicates that the highest level of education achievement for a person is a high school completion. high school education level An education level that indicates that the highest level of education achievement for a person is a Bachelor's degree B.S. degree completed B.S. degree education level Bacholar's degree completed Bachelor's degree education level An education level that indicates that a person has obtained a degree allowing them to practice a profession, such as law, medicine, music, or ministry. NCIT_C70558 C2347690 professional doctorate degree education level M.D. completion education level Pharmacy complete education level An education level that indicates that the highest level of education achievement for a person is kindergarten completion. kindergarten completion education level An education level that indicates that the highest level of education achievement for a person is preschool. preschool completion education level An education level that indicates that the highest level of education achievement for a person is the pass of a General Education Development (GED) tests. The GED tests are a group of four subject tests which, when passed, provide certification that the test taker has United States or Canadian high school-level academic skills. general equivalency diploma completion https://en.wikipedia.org/wiki/General_Educational_Development GED education level An education level that indicates that the highest level of education achievement for a person is the 1st Grade elementary school completion. 1st Grade education level An education level that indicates that the highest level of education achievement for a person is the second Grade elementary school completion. 2nd Grade education level An education level that indicates that the highest level of education achievement for a person is the third Grade elementary school completion. 3rd Grade education level An education level that indicates that the highest level of education achievement for a person is the 4th Grade elementary school completion. 4th Grade education level An education level that indicates that the highest level of education achievement for a person is the 5th Grade elementary school completion. 5th Grade education level An education level that indicates that the highest level of education achievement for a person is the 6th Grade elementary school completion. 6th Grade education level An education level that indicates that the highest level of education achievement for a person is the 7th Grade elementary school completion. 7th Grade education level An education level that indicates that the highest level of education achievement for a person is the 8th Grade elementary school completion. 8th Grade education level An education level that indicates that the highest level of education achievement for a person is the 9th Grade elementary school completion. 9th Grade education level An education level that indicates that the highest level of education achievement for a person is the 10th Grade elementary school completion. 10th Grade education level An education level that indicates that the highest level of education achievement for a person is the 11th Grade elementary school completion. 11th Grade education level An education level that indicates that the highest level of education achievement for a person is the 12th Grade elementary school completion. 12th Grade education level An education level that indicates that the highest level of education achievement for a person is a degree from a 2 year college program. NCIT_C19752 C1879750 associate academic degree education level An education level that indicates that the highest level of education achievement for a person is a degree from an occupational, technical, or vocational program NCIT_C67141 C1883542 vocational program completion education level The code in the specific coding system for the payment method of the expenses incurred in a single hospitalization of the patient 患者单次住院诊疗所发生费用的支付方式的特定编码体系中的代码 Suyuan Peng, Hong Yu, Yongqun He 《电子病历基本数据集 第10部分：住院病案首页》WS 445.10-2014 NCIT_C16745 C0021672 医疗付费方式 health insurance plan A joint federal and state program that helps with medical costs for some people with limited income and resources. https://en.wikipedia.org/wiki/Medicaid Medicaid Medicare is a national health insurance program in the United States, begun in 1966 under the Social Security Administration and now administered by the Centers for Medicare and Medicaid Services (CMS). https://en.wikipedia.org/wiki/Medicare_(United_States) Medicare private health insurance plan worker compensation insurance plan body weight A body weight that is obtained immediately after birth Oliver He, Edison Ong NCIT_C76325 birth weight emergency contact phone number care provider 1st care provider primary care provider a centrally registered identifier symobol that refers to a specific study Oliver He, Edison Ong study ID centrally registered study identifier symbol 2nd care provider secondary care provider 3rd care provider tertiary care provider An email address that is used secondary after the de fault first email address. 2nd email address A textual question about age Fred Dowd, Oliver he age question A textual question that asks whether a person's age is less than 18 years old Fred Dowd, Oliver He Whether age less than 18 years old An eligibility assessment form that is designed and used by the Kidney Precision Medicine Project (KPMP; http://kpmp.org) organization. Oliver He, Edison Ong, Fred Dowd KPMP eligibility assessment form BMI question Whether BMI greater than 40 kg/m2 Whether BMI greater than 40 kg per m2 BMI greater than 40 kg per m2 question about blood transfusion Edison Ong, Oliver He Whether unwilling to receive blood transfusion pregnancy question A pregnancy question that asks whether a person is pregnant at the moment of being questioned Fred Dowd, Oliver He Whether pregnancy occurs now Whether pregnant transplant question A transplant question that asks whether a person has received some transplant (includes solid transplant and bone marrow). Example transplants are kidney transplant and heart transplant. Fred Dowd, Oliver He Whether transplant recipient A transplant question that asks whether a person has received a kidney transplant. Fred Dowd, Oliver He Whether kidney transplant recipient KPMP clinical report form A biopsy procedure form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. Oliver He, Fred Dowd, Edison Ong KPMP biopsy procedure form A biosample collection form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. KPMP biosample collection form An adverse event entry form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. KPMP adverse event entry form A biopsy safety checklist form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. Oliver He, Fred Dowd, Edison Ong KPMP biopsy safety checklist form A clinic reception form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. Oliver He, Edison Ong, Fred Dowd KPMP clinic reception form A contact information form that is designed and used by the Kidney Precision Medicine Project (KPMP) organization. KPMP contact information form KPMP demographic information form KPMP health literacy questionnaire form A textual question that is about eligibility of a person to participate in a project. Edison Ong, Oliver He eligibility question KPMP AKI hospitalization form KPMP CKD hospitalization form KPMP laboratory result form KPMP medical history form Fred Dowd, Oliver He This form is the end of a successful screening process KPMP consent form KPMP medications form KPMP new patient form KPMP participant reported outcome measures form KPMP participant study status form KPMP pathology images upload form KPMP patient experience survey form KPMP personal history form KPMP physical measurement form KPMP post biopsy form KPMP tissue tracking form KPMP Dx core - .jpg images QC form KPMP Dx core - disease categories form KPMP central path quality metrics assessment Dx core form KPMP central path quality metrics assessment interrogation core form The last four digits of a social security number, which is often asked in a survey form. Oliver He last 4 digits of SSN http://en.wikipedia.org/wiki/Social_Security_number last four digits of social security number A question in a survey form may ask whether a provided email address belongs to self The self is an individual person as the object of his or her own reflective consciousness. Oliver He human self https://en.wikipedia.org/wiki/Self self A textual question about age Fred Dowd, Oliver he email question An email question that asks the exact email address What email address An email question that asks whether the email address provided belongs to the person being surveyed. Whether self owns email address An email question that asks whether the email address provided belongs to the person being surveyed. Who owns email address A textual question that asks the birthday of the person being surveyed What is your birthday The textual name of the contact person or organization contact name The textual name of the contact person or organization that will be contacted during emergency emergency contact name Who owns the 2nd email address Who owns the 3rd email address physician information physician specialty information Health care or healthcare is the maintenance or improvement of health via the prevention, diagnosis, and treatment of disease, illness, injury, and other physical and mental impairments in human beings. Oliver He healthcare https://en.wikipedia.org/wiki/Health_care health care A health care rendered for the benefit of a patient. C0017313 C15239 patient care Primary care refers to the work of health professionals who act as a first point of consultation for all patients within the health care system Oliver He https://en.wikipedia.org/wiki/Health_care#Primary_care C94340 C0033137 primary care Secondary care includes acute care: necessary treatment for a short period of time for a brief but serious illness, injury, or other health condition. This care is often found in a hospital emergency department. Secondary care also includes skilled attendance during childbirth, intensive care, and medical imaging services. Oliver He https://en.wikipedia.org/wiki/Health_care#Secondary_care secondary care Tertiary care is specialized consultative health care, usually for inpatients and on referral from a primary or secondary health professional, in a facility that has personnel and facilities for advanced medical investigation and treatment, such as a tertiary referral hospital. Oliver He https://en.wikipedia.org/wiki/Health_care#Tertiary_care tertiary care The term quaternary care is sometimes used as an extension of tertiary care in reference to advanced levels of medicine which are highly specialized and not widely accessed. Oliver He https://en.wikipedia.org/wiki/Health_care#Quaternary_care quaternary care A patient care that is provided in hospital. Oliver He https://en.wikipedia.org/wiki/Health_care#Secondary_care It is sometimes the synonym of secondary care. However, many secondary care providers, such as psychiatrists, clinical psychologists, occupational therapists, most dental specialties or physiotherapists do not necessarily work in hospitals. Some primary care services are delivered within hospitals. Depending on the organization and policies of the national health system, patients may be required to see a primary care provider for a referral before they can access secondary care. hospital care nephrology care endocrinology care physician question What is the physician's specialty? What physician's specialty hospital question What is name of clinic or hospital what name of hospital postal address question address question What street name What is the city name? What city What state What Zip code What street number and name What apartment number What apartment Which country? What country Do you have physician who provides your usual medical care? Whether have physician for usual medical care nephrologist care provider nephrology care provider patient condition question Whether diabetic kidney disease (DKD) Whether hypertensive CKD (H-CKD) Whether diabetic nephropathy resisters percutaneous biopsy Whether AKI percutaneous biopsy Whether AKI open biopsy Whether biopsy CRF filled up by patient What postal code CRF filled up by research coordinator CRF filled up by biopsy operator biopsy-related CRF post biopsy hospitlization form A clinical report form that is related to the processing and analysis of tissue of diseased patient. pathology CRF screening and patient tracking CRF enrollment CRF A eligibility question that asks whether a patient is eligible to consent to participate in a project. Oliver He, Edison Ong Whether patient eligible to consent HIPAA release Whether patient signed HIPPA release form When HIPAA release form signed Whether scanned HIPAA release form uploaded A chronic kidney disease that is accompanied with elevated blood pressure or hypertension Oliver He H-CKD https://www.nejm.org/doi/full/10.1056/NEJMoa0910975 Oliver note: This term is not shown in MONDO or DOID. May request an addition. hypertensive chronic kidney disease a process that obtains a tissue from a living body in order to discover the presence, cause, or extent of a disease, or perform further biomeidcal investigation Oliver He, Hong Yu https://en.oxforddictionaries.com/definition/biopsy https://en.wikipedia.org/wiki/Biopsy biopsy A systematized collection of patient and population electronically-stored health information in a digital format Oliver He, Edison Ong EHR EMR electronic medical record https://en.wikipedia.org/wiki/Electronic_health_record NCIT_C142529 NCIT definition: A digital version of a patient's medical history. [def-source: NCI] electronic health record A biopsy that takes a small piece of tissue out of a living body through the skin, using only a tiny incision Oliver He, Hong Yu http://www.wales.nhs.uk/sitesplus/documents/866/PIU433%284%29%28ABUHB%29%28Active%29%28JAN%2017%29.pdf percutaneous biopsy AKi percutaneous biopsy A biopsy process in which a surgical incision (cut) is made through the skin to expose and remove tissues Oliver He, Hong Yu https://en.wikipedia.org/wiki/Open_biopsy open biopsy AKI open biopsy diabetic nephropathy resisters percutaneous biopsy The state of being free from illness or injury Oliver He, Edison Ong health state https://en.oxforddictionaries.com/definition/health https://en.wikipedia.org/wiki/Health https://www.healthknowledge.org.uk/public-health-textbook/research-methods/1c-health-care-evaluation-health-care-assessment/measures-health-status health status The medical state or condition of a patient Oliver He, Edison Ong medical state https://en.wikipedia.org/wiki/Medical_state medical condition Whether diseased Whether kidney diseased the date or time on which a visit occurs Oliver He clinical visit date visit time NCIT_C83031 C1320303 visit temporal region a machine-readable centrally registered identifier that is represented in a visual format on a surface bar code https://en.wikipedia.org/wiki/Barcode barcode a barcode that represents a specific specimen specimen barcode A planned process that tracks the tissue specimen including tissue vial number, storage location, time of vial arrival to storage, storage temperature, etc. Oliver He, Edison Ong tissue tracking A centrally registered identifier that is assigned for a specific clinical trial registered in the ClinicalTrials.gov. The format for the ClinicalTrials.gov registry number is “NCT” followed by an 8-digit number, e.g.: NCT00000419. Qingliang Leon Li, Asiyah Yu Lin, Oliver He NCT identifier NCT number National Clinical Trial identifier https://clinicaltrials.gov/ct2/about-site/link-to https://www.nlm.nih.gov/bsd/policy/clin_trials.html USA National Clinical Trial identifier A textual entity that is the title of a clinical trial https://prsinfo.clinicaltrials.gov/definitions.html title of clinical trial A title of clinical trial that is recorded as official https://prsinfo.clinicaltrials.gov/definitions.html official title of clinical trial A title of clinical trial that is meant for lay people understanding https://prsinfo.clinicaltrials.gov/definitions.html lay title of clinical trial A person who performs an investigation task and takes the role of an investigator role. Leon Li, Oliver He, Asiyah Lin https://prsinfo.clinicaltrials.gov/definitions.html investigator An investigator who is involved in a clinical trial and is responsible for ensuring that an investigation is conducted according to the signed investigator statement, the investigational plan, and applicable regulations; for protecting the rights, safety, and welfare of subjects under the investigator's care; and for the control of drugs under investigation. Oliver He https://en.wikipedia.org/wiki/Clinical_investigator clinical investigator The date on which a study starts study start date The (estimated) date on which the clinical study is open for recruitment of participants, or the actual date on which the first participant is enrolled. https://prsinfo.clinicaltrials.gov/definitions.html clinical trial start date The date on which a study completes Oliver He study completion date The date the final participant was examined or received an intervention for purposes of final collection of data for the primary and secondary outcome measures and adverse events (for example, last participant’s last visit), whether the clinical study concluded according to the pre-specified protocol or was terminated. https://prsinfo.clinicaltrials.gov/definitions.html clinical trial study completion date The date that the final participant was examined or received an intervention for the purposes of final collection of data for the primary outcome, whether the clinical study concluded according to the pre-specified protocol or was terminated. In the case of clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all of the primary outcomes. https://prsinfo.clinicaltrials.gov/definitions.html clinical trial primary completion date The main objective of the intervention(s) being evaluated by the clinical trial. primary purpose of clinical trial https://prsinfo.clinicaltrials.gov/definitions.html clinical trial primary purpose specification a date when a registration occurs date of registration A primary outcome measure used to describe patterns of diseases or traits or associations with exposures, risk factors or treatment. primary outcome https://prsinfo.clinicaltrials.gov/definitions.html primary health outcome measurement datum The current stage of a clinical study and whether it is or will be open for enrollment Oliver He https://clinicaltrials.gov/ct2/help/glossary/recruitment-status recruitment status A case report form that is presented in an electronic format Fred Dowd, Oliver He eCRF https://en.wikipedia.org/wiki/Case_report_form#eCRF electronic case report form A human being who is a candidate to participant in a clinical study Fred Dowd, Oliver He clinical study participant candidate answering textual question a date of the present date Oliver He, Edison Ong today's date CRF filled up by participant candidate Fred Dowd, Edison Ong, Oliver He pregnancy test positive Fred Dowd, Edison Ong, Oliver He hemoglobin test finding Fred Dowd, Edison Ong, Oliver He In KPMP, the hemoglobin < 9 g/dl is considered as hemoblobin test positive. hemoglobin test positive with result < 9 g/dl a date when a test is performed at the first time Oliver He, Edison Ong date of first test a date when a test is performed Oliver He, Edison Ong date of test a date when a test is performed at the second time Oliver He, Edison Ong date of second test A person name that includes both the first and last name Edison Ong, Oliver He first and last name human first and last name person first and last name A date when a document is signed Oliver He, Edison Ong sign date Oliver He, Edison Ong status The current stage of a clinical study and whether it is or will be open for enrollment Oliver He https://clinicaltrials.gov/ct2/help/glossary/recruitment-status study status Oliver He, Edison Ong patient status a selection criterion (rule) which defines and states the exclusion condition for an entity to be considered as suitable for a given task or participation in a process. Oliver He, Edison Ong https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044655/ Replace by a corresponding OBI term exclusion criterion - obsolete An exclusion criterion that relates to the process of bleeding Oliver He, Edison Ong bleeding exclusion criteria A case report form of PROMIS: Patient-Reported Outcomes Measurement Information System. PROMIS is a set of person-centered measures that evaluates and monitors physical, mental, and social health in adults and children. It can be used with the general population and with individuals living with chronic conditions. Fred Dowd, Edison Ong, Oliver He Patient-Reported Outcome Measures form http://www.healthmeasures.net/explore-measurement-systems/promis PROMIS form kit identifier A centrally registered identifier that is for a kit used in biopsy Fred Dowd, Edison Ong, Oliver He biopsy kit identifier A PROMIS form that is designed and used by the KPMP project (http://kpmp.org). Oliver He KPMP PROMIS form A biopsy attempt Fred Dowd, Edison Ong, Oliver He biopsy pass A biopsy that uses needle Fred Dowd, Edison Ong, Oliver He needle biopsy A textual question about health condition Oliver He, Edison Ong health status question A health status question that asks about the condition of a person's heath, which can be a selection from different options such as Excellent, Very good, Good, Fair, or Poor. Oliver He, Edison Ong what health status excellent health status very good health status good health status fair health status poor health status quality of life excellent quality of life very good quality of life good quality of life fair quality of life poor quality of life consent status A consent status that indicates a participant unwilling to receive a procedure of blood transfusion Edison Ong, Oliver He unwilling to receive a blood transfusion A consent status that indicates a participate willing to receive a procedure of blood transfusion Edison Ong, Oliver He willing to receive a blood transfusion year A textual quesition thta is about medical history of a person medical history question What birth weight Qingliang Leon Li, Asiyah Yu Lin, Oliver He https://pubchem.ncbi.nlm.nih.gov/source/NIPH%20Clinical%20Trials%20Search%20of%20Japan https://rctportal.niph.go.jp/en/ Japan clinical trial identifier A Japan clinical trial identifier provided by the University Hospital Medical Information Network Center (UMIN-CTR) Qingliang Leon Li, Asiyah Yu Lin, Oliver He https://rctportal.niph.go.jp/en/ UMIN-CTR clinical trial identifier Qingliang Leon Li, Asiyah Yu Lin, Oliver He https://rctportal.niph.go.jp/en/ JAPIC clinical trial identifier Qingliang Leon Li, Asiyah Yu Lin, Oliver He https://rctportal.niph.go.jp/en/ JMACCT clinical trial identifier EudraCT Number: 2007-002422-29 Qingliang Leon Li, Asiyah Yu Lin, Oliver He EudraCT identifier https://en.wikipedia.org/wiki/EudraCT https://www.clinicaltrialsregister.eu/ctr-search/search https://www.clinicaltrialsregister.eu/ctr-search/search?query=eudract European clinical trial registry identifier A clinical trial that covers both Phase 1 and 2 Leon Li, Asiyah Lin, Oliver He https://en.wikipedia.org/wiki/Clinical_trial Phase I/II clinical trial Leon Li, Asiyah Lin, Oliver He combinational intervention The quality of a clinical trial that studies a drug or biological product. The phase is based on the study's objective, the number of participants, and other characteristics. According to USA FDA, there are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Leon Li, Asiyah Lin, Oliver He clinical trial stage https://www.clinicaltrials.gov/ct2/help/glossary/phase clinical trial phase A clinical trial phase that represents the first-in-man trial, which tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. Leon Li, Asiyah Lin, Oliver He Phase 1 Phase I http://purl.obolibrary.org/obo/NCIT_C15600 https://en.wikipedia.org/wiki/Clinical_trial C0920321 C15600 clinical trial phase 1 A clinical trial phase that is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] Leon Li, Asiyah Lin, Oliver He Phase II http://purl.obolibrary.org/obo/NCIT_C15601 https://en.wikipedia.org/wiki/Clinical_trial C0282460 C15601 clinical trial phase 2 A clinical trial phase that is designed to investigate the efficacy of the biomedical or behavioral intervention in large groups of human subjects (from several hundred to several thousand), to confirm efficacy, to monitor adverse reactions to the new medication or treatment regimen with respect to long-term use and by comparing the intervention to other standard or experimental interventions as well as to a placebo. [def-source: NCI] Leon Li, Asiyah Lin, Oliver He Phase III http://purl.obolibrary.org/obo/NCIT_C15602 https://en.wikipedia.org/wiki/Clinical_trial C0282461 C15602 clinical trial phase 3 A clinical trial phase that is designed for a randomized, controlled trial to evaluate the long-term safety and efficacy of a drug for a given indication. Often they are designed to study side effects that may have become apparent after the phase III study was completed. [def-source: NCI] Leon Li, Asiyah Lin, Oliver He Phase IV https://en.wikipedia.org/wiki/Clinical_trial C0282462 C15603 clinical trial phase 4 A clinical trial phase that is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] Leon Li, Asiyah Lin, Oliver He Early Phase 1 Pre-Clinical Phase clinical trial phase 0 http://purl.obolibrary.org/obo/NCIT_C54721 https://en.wikipedia.org/wiki/Clinical_trial C1882358 C54721 clinical trial early phase 1 A clinical trial that covers both Phase 2 and 3 Leon Li, Asiyah Lin, Oliver He https://en.wikipedia.org/wiki/Clinical_trial Phase II/III clinical trial Leon Li, Asiyah Lin, Oliver He radiation procedure radiation Leon Li, Asiyah Lin, Oliver He genetic intervention A medical intervention that involves a behavioral process to control, prevent, or treat a behavior problem. Leon Li, Asiyah Lin, Oliver He https://www.understood.org/en/learning-attention-issues/treatments-approaches/educational-strategies/behavior-intervention-plans-what-you-need-to-know behavioral intervention ImmPort study accession: SDY269 Edison Ong, Oliver He study accession study accession identifier Edison Ong, Oliver He title of investigation title of study A livinging individual who is or becomes a participant in research, either as a recipient of a test article or as a control. A subject may be either a healthy human or a patient. Based on the NIH definition, a living individual about whom an investigator (whether professional or student) conducting the following research: (1) Obtains information or biospecimens through intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or (2) Obtains, uses, studies, analyzes, or generates identifiable private information or identifiable biospecimens. Oliver He, Anthony Huffman https://grants.nih.gov/policy/humansubjects/research.htm https://irb.research.chop.edu/who-human-subject https://nexus.od.nih.gov/all/2018/08/07/human-subjects-and-clinical-trial-glossary-updates/ human subject In clinicaltrials.gov, contact information character limits: First Name: 62 characters Last Name: 62 characters Degree: 30 characters Phone: 30 characters Phone Ext: 14 characters Email: 254 characters Citation: https://prsinfo.clinicaltrials.gov/definitions.html#StudyOfficials A person who serves as a contact role and has disclosed specified information to be reached. Usually the contact information, such as email and phone number, is provided., Leon, Asiyah, Oliver: Since each contact needs to provide some contact information, we may need to define the contact information. Leon Li, Asiyah Lin, Oliver He https://prsinfo.clinicaltrials.gov/definitions.html#StudyOfficials contact person A contact person for each facility participating in a study. Leon Li, Asiyah Lin, Oliver He https://prsinfo.clinicaltrials.gov/definitions.html facility contact biosample identifier GSM identiifier ImmPort biosample identifier Person to contact if Facility Contact is not available (that is, a second contact person). Leon Li, Asiyah Lin, Oliver He https://prsinfo.clinicaltrials.gov/definitions.html#StudyOfficials facility contact backup Leon Li, Asiyah Lin, Oliver He https://prsinfo.clinicaltrials.gov/definitions.html#StudyOfficials contact of scientific queries An investigation agent role that is taken by a human individual Leon Li, Asiyah Lin, Oliver He human investigator role investigator role a role taken by a person who serves as a contact for some process. Leon Li, Asiyah Lin, Oliver He contact person role Topical ocular hypotensive eye drops Leon Li, Asiyah Lin, Oliver He https://prsinfo.clinicaltrials.gov/definitions.html#StudyOfficials contact for public queries A person who is responsible for the overall scientific leadership of the protocol, including study principal investigator Leon Li, Asiyah Lin, Oliver He https://prsinfo.clinicaltrials.gov/definitions.html#StudyOfficials overall study official A person to whom questions concerning enrollment at any location of the study can be addressed. Leon Li, Asiyah Lin, Oliver He central contact person https://prsinfo.clinicaltrials.gov/definitions.html central contact person of study A person to contact if Central Contact is not available. Leon Li, Asiyah Lin, Oliver He central contact person https://prsinfo.clinicaltrials.gov/definitions.html central contact backup of study information content entity about a contact person Leon Li, Asiyah Lin, Oliver He contact person information A sponsor role taken by an individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. The Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. Leon Li, Asiyah Lin, Oliver He https://www.who.int/ictrp/network/trds/en/ primary sponsor role A sponsor role taken by an additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. Leon Li, Asiyah Lin, Oliver He collaborator role https://www.who.int/ictrp/network/trds/en/ A secondary sponsor may have agreed to: - take on all the responsibilities of sponsorship jointly with the primary sponsor; or - form a group with the Primary Sponsor in which the responsibilities of sponsorship are allocated among the members of the group; or - act as the Primary Sponsor’s legal representative in relation to some or all of the trial sites. by WHO (https://www.who.int/ictrp/network/trds/en/) In clinicaltrials.gov, the secondary sponsor role can be taken by a project collaborator (Reference: https://prsinfo.clinicaltrials.gov/trainTrainer/WHO-ICMJE-ClinTrialsgov-Cross-Ref.pdf). However, a secondary sponsor may serve as a collaborator role, but a collaborator may not serve as a secondary sponsor role. secondary sponsor role An investigator role taken by an individual who is designated as responsible party by the sponsor Leon Li, Asiyah Lin, Oliver He https://prsinfo.clinicaltrials.gov/definitions.html principal investigator role An investigator role taken by an individual who both initiates and conducts the study Leon Li, Asiyah Lin, Oliver He https://prsinfo.clinicaltrials.gov/definitions.html sponsor investigator role An investigation agent role taken by an agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. Leon Li, Asiyah Li, Oliver He collaborator role https://prsinfo.clinicaltrials.gov/definitions.html#Collaborators https://www.who.int/ictrp/network/trds/en/ A secondary sponsor may serve as a collaborator role. However, a collaborator may not serve as a secondary sponsor role. investigation collaborator role a selection criterion (rule) which defines and states the inclusion condition for an entity to be considered as suitable for a given task or participation in a process. Oliver He, Edison Ong, Leon Li, Asiyah Lin https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044655/ Replace by a corresponding OBI term inclusion criterion - obsolete A centrally registered unique identifier assigned by the primary registry to a study including a clinical trial. Qingliang Leon Li, Asiyah Yu Lin, Oliver He https://www.who.int/ictrp/network/trds/en/ primary registry identifier An individual, organization, group or other legal entity that involves with any of the following activities: initiating, managing and funding a study Leon Li, Asiyah Lin, Oliver He https://www.who.int/ictrp/network/trds/en/ NCIT_C48355 sponsor investigation agent The individual, organization, group or other legal entity which takes responsibility for initiating, managing and/or financing a study. In clinical trial, the Primary Sponsor is responsible for ensuring that the trial is properly registered. The Primary Sponsor may or may not be the main funder. Leon Li, Asiyah Lin, Oliver He https://www.who.int/ictrp/network/trds/en/ primary sponsor An additional individual, organization or another legal person, if any, that has agreed with the primary sponsor to take on responsibilities of sponsorship. Leon Li, Asiyah Lin, Oliver He https://www.who.int/ictrp/network/trds/en/ A secondary sponsor may have agreed to: - take on all the responsibilities of sponsorship jointly with the primary sponsor; or - form a group with the Primary Sponsor in which the responsibilities of sponsorship are allocated among the members of the group; or - act as the Primary Sponsor’s legal representative in relation to some or all of the trial sites. Reference: https://www.who.int/ictrp/network/trds/en/ secondary sponsor A centrally registered unique identifier besides the primary registry identifier allocated by the Primary Registry, if any. Qingliang Leon Li, Asiyah Yu Lin, Oliver He https://www.who.int/ictrp/network/trds/en/ secondary registry identifier An agent (an individual, organization, group or another legal entity) who provides support to an investigation. The support may include funding, design, implementation, data analysis or reporting. The responsible party is responsible for confirming all collaborators before listing them. Leon Li, Asiyah Li, Oliver He investigation collaborator https://prsinfo.clinicaltrials.gov/definitions.html#Collaborators https://www.who.int/ictrp/network/trds/en/ collaborator An investigator who is designated as responsible party by the sponsor Leon Li, Asiyah Lin, Oliver He https://prsinfo.clinicaltrials.gov/definitions.html principal investigator An investigator role taken by an individual who both initiates and conducts the study Leon Li, Asiyah Lin, Oliver He https://prsinfo.clinicaltrials.gov/definitions.html sponsor investigator A role taken by a string (which may have mixed integer and text) that serves as a unique record. Leon Li, Asiyah Lin, Oliver He identifier role obsolete class An identifier role that inheres in a unique record which provides an identifier secondary to the primary registry identifier. Qingliang Leon Li, Asiyah Yu Lin, Oliver He https://www.who.int/ictrp/network/trds/en/ secondary registry identifier role An identifier role that is assigned by a primary registry and provides a unique record. Qingliang Leon Li, Asiyah Yu Lin, Oliver He https://www.who.int/ictrp/network/trds/en/ primary registry identifier role a human who is a recipient of a health care service performed by healthcare professionals. human patient https://en.wikipedia.org/wiki/Patient Hong Yu, Oliver He patient A systematic, scientific investigation that can be either interventional or observational and involves human beings as research subjects. Human subject research can be either medical (clinical) research or non-medical (e.g., social science) research. Oliver He human investigation human study https://en.wikipedia.org/wiki/Human_subject_research human subject study A collection of humans who share a defining characteristic, typically those who are collectively experiencing a common event (e.g., a clincal trial study) in a selected period. Anthony Huffman, Oliver He https://en.wikipedia.org/wiki/Cohort_study human cohort A process of a dynamic system that produces an identiical or similar copy of itself. Oliver He https://en.wikipedia.org/wiki/Self-replication self-replication organic chemical entity A measurement datum that is about the age of human subject Oliver He, Jie Zheng, Anthony Huffman https://nexus.od.nih.gov/all/2018/08/07/human-subjects-and-clinical-trial-glossary-updates/ human subject age data For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. Oliver He, Jie Zheng, Anthony Huffman child human subject https://nexus.od.nih.gov/all/2018/08/07/human-subjects-and-clinical-trial-glossary-updates/ child age data of human subject (by NIH) The regular aged adult group is defined here as an individual over 18 years of age. Oliver He, Jie Zheng, Anthony Huffman adult human subject https://nexus.od.nih.gov/all/2018/08/07/human-subjects-and-clinical-trial-glossary-updates/ adult age data of human subject For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. Oliver He, Jie Zheng, Anthony Huffman older adult human subject https://nexus.od.nih.gov/all/2018/08/07/human-subjects-and-clinical-trial-glossary-updates/ older adult data of human subject (by NIH) The representation of a positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as positive for a hypothetic disease. Oliver He 阳性诊断 positive diagnosis The representation of a negative conclusion of a diagnostic process, which indicates that the patient is diagnozed as negative for a hypothetic disease. Oliver He 阴性诊断 negative diagnosis The representation of a presumptive positive conclusion of a diagnostic process, which indicates that the patient is diagnozed as presumptive positive for a hypothetic disease. Oliver He 假定阳性诊断 疑是诊断 presumptive positive diagnosis A human subject classified as adult, which is defined by NIH as an individual under the age of 18 years. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, a child is defined as an individual under the age of 18 years. Oliver He https://nexus.od.nih.gov/all/2018/08/07/human-subjects-and-clinical-trial-glossary-updates/ child human subject A human subject classified as adult, which is defined by NIH as an individual 65 years of age or older. For the purposes of the NIH Policy and Guidelines on the Inclusion of Individuals Across the Lifespan as Participants in Research Involving Human Subjects, an older adult is defined as an individual 65 years of age or older. Oliver He https://nexus.od.nih.gov/all/2018/08/07/human-subjects-and-clinical-trial-glossary-updates/ older adult human subject A human subject classified as adult, which is defined by NIH as an individual over 18 years of age. Oliver He https://nexus.od.nih.gov/all/2018/08/07/human-subjects-and-clinical-trial-glossary-updates/ adult human subject Yingtong Liu, Anthony Huffman, Oliver He biomarker role Anthony Huffman, Oliver He immune signature role Anthony Huffman, Oliver He cytokine signature role Anthony Huffman, Oliver He inflammatory cytokine signature role A material entity that has a measurable quality or process profile(s), which can be used as an indicator of an underlying biological state or identity. The NIH Biomarkers and Surrogate Endpoint Working Group defined a biomarker as “A characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacological responses to a therapeutic intervention” (https://pubmed.ncbi.nlm.nih.gov/11240971/). However, the definition of 'characteriistc' is unclear, so we do not use the exact definintion in the ontology. Yingtong Liu, Anthony Huffman, Oliver He https://en.wikipedia.org/wiki/Biomarker https://en.wikipedia.org/wiki/Biomarker_(cell) https://en.wikipedia.org/wiki/Biomarker_(medicine) biomarker Anthony Huffman, Oliver He A biomarker that is indicative of an immune response https://pubmed.ncbi.nlm.nih.gov/22072636/ https://pubmed.ncbi.nlm.nih.gov/32286245/ immune biomarker Anthony Huffman, Oliver He cytokine biomarker Anthony Huffman, Oliver He inflammatory cytokine biomarker Yingtong Liu, Anthony Huffman, Oliver He disease biomarker role A biomarker that is indicative of a disease Yingtong Liu, Anthony Huffman, Oliver He https://en.wikipedia.org/wiki/Biomarker_(medicine) disease biomarker A biomarker that is an indicator of a cell lineage or cell type Yingtong Liu, Anthony Huffman, Oliver He cell marker cell type marker https://en.wikipedia.org/wiki/Biomarker_(medicine) cell lineage biomarker Oliver He, Yingtong Liu https://en.wikipedia.org/wiki/Biomarker_(cell)#Molecular_Biomarkers molecular biomarker Cellular biomarkers are marked cells that can be isolated, sorted, quantified and characterized by their morphology and physiology, and used in both clinical and laboratory settings for different biomarker applications. An example of a cellular biomarker sorting technique is Fluorescent-activated cell sorting. Oliver He, Yingtong Liu https://en.wikipedia.org/wiki/Biomarker https://en.wikipedia.org/wiki/Biomarker_(cell)#Cellular_Biomarkers cellular biomarker Oliver He, Yingtong Liu https://en.wikipedia.org/wiki/Biomarker https://en.wikipedia.org/wiki/Biomarker_(cell)#Imaging_Biomarkers imaging biomarker A biomarker that can predict clincal outcome. Oliver He, Yingtong Liu https://en.wikipedia.org/wiki/Biomarker predictive biomarker A biomarker that provides information about the patient's overall outcome, regardless of therapy. Oliver He, Yingtong Liu https://en.wikipedia.org/wiki/Biomarker prognostic biomarker A biomarker that can serve a role in narrowing down diagnosis, which can lead to diagnosis that is significantly more specific to individual patients. Oliver He, Yingtong Liu https://en.wikipedia.org/wiki/Biomarker diagnostic biomarker A molecular biomarker at the DNA gene level Oliver He, Yingtong Liu genomic biomarker https://en.wikipedia.org/wiki/Biomarker_(cell)#Molecular_Biomarkers DNA biomarker A molecular biomarker at the RNA level Oliver He, Yingtong Liu transcriptomic biomarker https://en.wikipedia.org/wiki/Biomarker_(cell)#Molecular_Biomarkers RNA biomarker A molecular biomarker at the protein level Oliver He, Yingtong Liu proteomic biomarker https://en.wikipedia.org/wiki/Biomarker_(cell)#Molecular_Biomarkers protein biomarker A biomarker that is indicative of a disease and achieved through imaging. https://en.wikipedia.org/wiki/Biomarker_(medicine)#Imaging_disease_biomarkers_by_magnetic_resonance_imaging_(MRI) imaging disease biomarker A disposition that a material entity (e.g., gene or protein) is susceptible to be up or down-regulated in an organism or virus. Oliver He, Anthony Huffman susceptibility to biological regulation Oliver He imaging disease biomarkers by magnetic resonance imaging https://en.wikipedia.org/wiki/Biomarker_(medicine)#Imaging_disease_biomarkers_by_magnetic_resonance_imaging_(MRI) imaging disease biomarkers by MRI Oliver He A biomarker that is indicative of the presence of cancer in the body https://en.wikipedia.org/wiki/Cancer_biomarker cancer marker A disposition that a material entity (e.g., gene or protein) is susceptible to be up-regulated in an organism or virus. Oliver He, Anthony Huffman susceptibility to biological up-regulation A disposition that a material entity (e.g., gene or protein) is susceptible to be down-regulated in an organism or virus. Oliver He, Anthony Huffman susceptibility to biological down-regulation A Unified Social Credit Identifier is issued to registered companies and other types of organization by the Chinese government. Suyuan Peng, Hong Yu, Oliver He https://en.wikipedia.org/wiki/Unified_Social_Credit_Identifier 组织机构代码 Unified Social Credit Identifier Suyuan Peng, Hong Yu, Oliver He health care organization https://www.sciencedirect.com/topics/nursing-and-health-professions/health-care-organization 医疗机构 healthcare organization A centrality registered identifier for a medical record. Suyuan Peng, Hong Yu, Oliver He medical record ID https://en.wikipedia.org/wiki/Medical_record 病案号 medical record number A centrally registered identifier that is uniquely assigned to a person. Oliver He, Long Tran https://www.ohdsi.org/web/wiki/doku.php?id=documentation:cdm:person person ID 指患者在本医疗机构住院诊治的次数 Suyuan Peng, Hong Yu, Oliver He 《卫生部关于修订住院病案首页的通知》卫医政发〔2011〕84号 住院次数 number of hospital admissions A time measurement datum that is about a human being who bears a patient role and specifies the date of the patient's admission to a hospital 指患者实际入病房的接诊时间 Suyuan Peng, Hong Yu, Oliver He http://purl.obolibrary.org/obo/EUPATH_0000319 《住院病案首页数据填写质量规范（暂行）》国卫办医发〔2016〕24号 入院时间 date of hospital admission A year when an organism (e.g., a human) is born. Oliver He, Long Tran https://www.ohdsi.org/web/wiki/doku.php?id=documentation:cdm:person year of birth A month when an organism (e.g., a human) is born. Oliver He, Long Tran https://www.ohdsi.org/web/wiki/doku.php?id=documentation:cdm:person month of birth The date and time of birth of a person. Oliver He, Long Tran https://www.ohdsi.org/web/wiki/doku.php?id=documentation:cdm:person https://www.ohdsi.org/web/wiki/doku.php?id=documentation:cdm:single-page This term is generated to be equivalent to the "birth_datetime" in OMOP. Also note: in OMOP v6.0, DATETIME fields were made mandatory and date fields were made optional. Reference: https://ohdsi.github.io/CommonDataModel/cdm60.html#PERSON birth datetime A time measurement datum that is about a human being who bears a patient role and specifies the date of the patient's discharge from a hospital 出院时间是指患者治疗结束或终止治疗离开病房的时间，其中死亡患者是指其死亡时间；记录时间应当精确到分钟 Suyuan Peng, Hong Yu, Oliver He http://purl.obolibrary.org/obo/EUPATH_0000320 《住院病案首页数据填写质量规范（暂行）》国卫办医发〔2016〕24号 入院时间 date of hospital discharge The number of health card for residents of the People's Republic of China 在已统一发放“中华人民共和国居民健康卡”的地区填写健康卡号码，尚未发放“健康卡”的地区填写“-” Suyuan Peng, Hong Yu, Yongqun He 《卫生部关于修订住院病案首页的通知》卫医政发〔2011〕84号 健康卡号 residents health card number time that is related to the birth Oliver He, Long Tran time of birth birth-related time A care site is a uniquely identified institutional (physical or organizational) unit where healthcare delivery is practiced, for example, office, ward, hospital, clinic, etc. Long Tran, Oliver He http://ohdsi.github.io/CommonDataModel/cdm54.html#CARE_SITE http://ohdsi.github.io/CommonDataModel/cdm54.html#PERSON https://en.wikipedia.org/wiki/Health_care According to OMOP, care site does not consider the provider (human) information such a specialty. Instead, care site is considered at the institutional level. care site A centrally registered identifier that refers to where the care provider typically provides the primary care. Oliver He, Long Tran care site id http://ohdsi.github.io/CommonDataModel/cdm54.html#CARE_SITE http://ohdsi.github.io/CommonDataModel/cdm54.html#PERSON care site identifier A medical occurrence where a person engages with the healthcare system for a duration of time. Oliver He, Long Tran visit occurrence http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE medical visit A centrally registered identifier that refers to a specific visit occurrence. This identifier identifies a unique interaction between a person and the health care system. Oliver He, Long Tran visit occurrence id http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE visit occurrence identifier A vist ocurrence in which the patient's condition requires admission to a hospital. Oliver He, Long Tran inpatient visit occurrence http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE https://en.wikipedia.org/wiki/Inpatient_care inpatient visit A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. Oliver He, Long Tran outpatient visit occurrence http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE https://en.wikipedia.org/wiki/Patient#Outpatients_and_inpatients outpatient visit A vist ocurrence in which a patient attends an outpatient clinic with no plan to stay beyond the duration of the visit. Oliver He, Long Tran ER visit http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE https://en.wikipedia.org/wiki/Patient#Outpatients_and_inpatients emergency room visit The date on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. Oliver He, Long Tran clinical visit start date http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE visit start date The date on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. Oliver He, Long Tran clinical visit end date http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE visit end date A temporal region that covers the time period from the visit start time to the visit end time. Oliver He, Long Tran visit duration The date and time on which a visit starts. In the case of an inpatient visit this should be the date the patient was admitted to the hospital or institution. In all other cases this should be the date of the patient-provider interaction. Oliver He, Long Tran clinical visit start datetime http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE visit start datetime The date and time on which a visit ends. For inpatient visits the end date is typically the discharge date. If a Person is still an inpatient in the hospital at the time of the data extract and does not have a visit_end_date, then set the visit_end_date to the date of the data pull. Oliver He, Long Tran clinical visit end datetime http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE visit end datetime A visit occurrence that occurs for the person prior to the given visit. There could be a few days or a few years in between. Oliver He, Long Tran preceding visit preceding visit occurrence http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE preceding medical visit A vist ocurrence that includes a visit to the emergency room followed by a subsequent inpatient visit. Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE https://en.wikipedia.org/wiki/Patient#Outpatients_and_inpatients emergency room and inpatient visit A visit to a dedicated institution for reasons of poor health, at a Care Site, long-term or permanently, with no physician but possibly other Providers permanently available to deliver service around the clock Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE https://en.wikipedia.org/wiki/Patient#Outpatients_and_inpatients non-hospital institution visit A visit where a provider visits a person, without a care site, within one day, delivering service Oliver He, Long Tran home visit http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE https://en.wikipedia.org/wiki/Patient#Outpatients_and_inpatients home medical visit A visit in which a patient engages with a Provider through communication media. A patient can use digital information and communication technologies, such as computers and mobile devices, to access health care services remotely and manage their health care. Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE https://en.wikipedia.org/wiki/Patient#Outpatients_and_inpatients telehealth visit A visit to the pharmacy for dispensing of drug, at a care site, within one day Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE https://en.wikipedia.org/wiki/Patient#Outpatients_and_inpatients pharmacy visit A visit to a dedicated institution, at a care site, within one day, for the purpose of a measurement. The visit is carried out in a medical laboratory or clinical laboratory where tests are carried out on clinical specimens to obtain information about the health of a patient to aid in diagnosis, treatment, and prevention of disease Oliver He, Long Tran laboratory clinical visit laboratory visit http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE https://en.wikipedia.org/wiki/Patient#Outpatients_and_inpatients laboratory medical visit A medical visit occurrence that involves an interaction with the healthcare system, without a care site, within a day, with no providers involved, for the administrative purpose of patient case management. Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#VISIT_OCCURRENCE https://en.wikipedia.org/wiki/Patient#Outpatients_and_inpatients case management visit A site that is used as a permanent or semi-permanent residence for one or many humans. Long Tran, Oliver He https://en.wikipedia.org/wiki/Home home A centrally registered identifier that refers to the National Provider Number issued to health care providers in the US by the Centers for Medicare and Medicaid Services (CMS). NPI is assigned for use in all administrative and financial transactions specified by HIPAA. Oliver He, Long Tran National Providier Number http://ohdsi.github.io/CommonDataModel/cdm54.html#PERSON http://purl.obolibrary.org/obo/NCIT_C54633 National Provider Identifier A centrally registered identifier that is issued by the Drug Enforcement Administration (DEA), a US federal agency, that allows a provider to write prescriptions for controlled substances. Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#PERSON https://en.wikipedia.org/wiki/Drug_Enforcement_Administration DEA identifier A medicl occurrence that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. Oliver He, Long Tran procedure occurrence https://ohdsi.github.io/CommonDataModel/cdm54.html#PROCEDURE_OCCURRENCE medical procedure occurrence A centrally registered identifier that refers to a procedure occurrence, which is an activity or process that is ordered by, or carried out by, a healthcare provider on a patient with a diagnostic or therapeutic purpose. Oliver He, Long Tran procedure occurrence ID https://ohdsi.github.io/CommonDataModel/cdm54.html#PROCEDURE_OCCURRENCE procedure occurrence identifier A temporal region that is associated with a procedure Long Tran, Oliver He procedure time http://ohdsi.github.io/CommonDataModel/cdm54.html#PROCEDURE_OCCURRENCE procedure temporal region The date when a procedure starts Long Tran, Oliver He procedure date http://ohdsi.github.io/CommonDataModel/cdm54.html#PROCEDURE_OCCURRENCE procedure start date The date and time when a procedure starts Long Tran, Oliver He procedure date http://ohdsi.github.io/CommonDataModel/cdm54.html#PROCEDURE_OCCURRENCE procedure start datetime The date when a procedure ends Long Tran, Oliver He procedure date http://ohdsi.github.io/CommonDataModel/cdm54.html#PROCEDURE_OCCURRENCE procedure end date The date and time when a procedure ends Long Tran, Oliver He procedure date http://ohdsi.github.io/CommonDataModel/cdm54.html#PROCEDURE_OCCURRENCE procedure end datetime The information content entity that represents the origin of record such as the clinical form as the origin record of death. Oliver He, Long Tran type concept https://github.com/OHDSI/Vocabulary-v5.0/wiki/Vocab.-TYPE_CONCEPT provenance of record As part of the OMOP CDM, PROCEDURE TYPE CONCEPT best represents the provenance of the record, for example whether it came from an EHR record or billing claim. If a procedure is recorded as an EHR encounter, the PROCEDURE_TYPE_CONCEPT would be ‘EHR encounter record’. A provenance of record that determines the provenance of the Procedure record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. Long Tran, Oliver He Procedure Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#PROCEDURE_OCCURRENCE provenance of procedure record The status of being diagnosed as death Oliver He, Long Tran death diagnosis https://athena.ohdsi.org/search-terms/terms/32895 https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status death diagnosis status OMOP4976965 A provenance of record that designates the source (provenance) of the cost data. Long Tran, Oliver He Cost Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#COST provenance of cost record As part of the OMOP CDM, use the type concept that be reflects the source of the death record. It is possible that an administrative claims database would source death information from a government file so do not assume the Death Type is the same as the Visit Type, etc. A provenance of record that determines the provenance of the death record, i.e., where it came from. Long Tran, Oliver He Death Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#DEATH provenance of death record A provenance of record that determines the provenance of the record, as in whether the record is from administrative claims or EHR. Long Tran, Oliver He Device Exposure Type Concept Device Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#DEVICE_EXPOSURE provenance of device record As part of the OMOP CDM, choose the drug_type_concept_id that best represents the provenance of the record, for example whether it came from a record of a prescription written or physician administered drug. A provenance of record that determines the provenance of a drug prescription, which delineates prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. Long Tran, Oliver He Drug Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE provenance of drug record A provenance of record that determines the provenance of the Episode record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. Long Tran, Oliver He Procedure Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#EPISODE provenance of episode record A provenance of record that determines the provenance of the Measurement record, as in whether the procedure was from an EHR system, insurance claim, registry, or other sources. Long Tran, Oliver He Measurement Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#MEASUREMENT provenance of measurement record As part of the OMOP CDM, the provenance of the notes most likely will be EHR. A provenance of record that determines the provenance of the note. Long Tran, Oliver He Note Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#NOTE provenance of note record A provenance of record that determines the provenance of the Observation record, as in whether the measurement was from an EHR system, insurance claim, registry, or other sources. Long Tran, Oliver He Observation Period Type Concept Observation Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#OBSERVATION provenance of observation record A provenance of record that determines the source of the specimen record, as in an EHR system. Long Tran, Oliver He Specimen Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#SPECIMEN provenance of specimen record As part of the OMOP CDM, populate this field based on the provenance of the visit record, as in whether it came from an EHR record or billing claim. A provenance of record that determines the provenance of the visit record, or where the record comes from. Long Tran, Oliver He Visit Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#PROCEDURE_OCCURRENCE provenance of visit record A provenance of record that determines the provenance of the Condition record, as in whether the condition was from an EHR system, insurance claim, registry, or other sources. Long Tran, Oliver He Condition Occurrence Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#CONDITION_OCCURRENCE provenance of condition occurrence record The primary diagnosis refers to the patient condition that demands the most provider resources during the patient’s stay. Oliver He, Long Tran primary diagnosis https://athena.ohdsi.org/search-terms/terms/32902 https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://www.definitivehc.com/resources/glossary/primary-diagnosis There is often confusion surrounding primary and principal diagnoses and, consequently, the terms are commonly used interchangeably. While these can be (and frequently are) the same diagnosis in practice, their definitions are distinct. While a principal diagnosis is the underlying cause of patient symptoms, the primary diagnosis is used for healthcare billing purposes. Reference: https://www.definitivehc.com/resources/glossary/primary-diagnosis primary diagnosis status OMOP4976972 A medicl occurrence where a person presents a disease or medical condition stated as a diagnosis, a sign, or a symptom, which is either observed by a Provider or reported by the patient. Oliver He, Long Tran condition occurrence medical condition occurrence https://ohdsi.github.io/CommonDataModel/cdm54.html#CONDITION_OCCURRENCE medical condition occurrence the date or time on which a condition occurs Oliver He, Long Tran clinical condition date condition time https://ohdsi.github.io/CommonDataModel/cdm54.html#CONDITION_OCCURRENCE condition temporal region The date on which a condition ends. Oliver He, Long Tran clinical condition end date https://ohdsi.github.io/CommonDataModel/cdm54.html#CONDITION_OCCURRENCE condition end date The date and time on which a clinical condition ends. Oliver He, Long Tran clinical condition end datetime https://ohdsi.github.io/CommonDataModel/cdm54.html#CONDITION_OCCURRENCE condition end datetime The date on which a condition starts. Oliver He, Long Tran clinical condition start date https://ohdsi.github.io/CommonDataModel/cdm54.html#CONDITION_OCCURRENCE condition start date The date and time on which a condition starts. Oliver He, Long Tran clinical condition start datetime https://ohdsi.github.io/CommonDataModel/cdm54.html#CONDITION_OCCURRENCE In OMOP CDM, most often data sources do not have the idea of a start date for a condition. Rather, if a source only has one date associated with a condition record it is acceptable to use that date for both the CONDITION_START_DATE and the CONDITION_END_DATE. Reference: https://ohdsi.github.io/CommonDataModel/cdm54.html#CONDITION_OCCURRENCE condition start datetime The state or status at the point during the visit the diagnosis was given (admitting diagnosis, final diagnosis), whether the diagnosis was determined due to laboratory findings, if the diagnosis was exclusionary, or if it was a preliminary diagnosis, among others. Oliver He, Long Tran diagnosis status https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://build.fhir.org/ig/HL7/UTG/CodeSystem-condition-clinical.html https://ohdsi.github.io/CommonDataModel/cdm54.html#CONDITION_OCCURRENCE In OPMI, we treated medical condition status as a status, which is a realizable entitry. One major section of the branch is various diagnosis condition status. There are basically two types of diagnosis: one type diagnosis is treated as a condition status, the other is diagnosis (OGMS_0000073) as a type of clinical data item. One good example to illustrate the difference is the difference between primary and principal diagnoses. While these can be (and frequently are) the same diagnosis in practice, their definitions are distinct. While a principal diagnosis is the underlying cause of patient symptoms, the primary diagnosis is used for healthcare billing purposes and is a type of medical condition status. Reference: https://www.definitivehc.com/resources/glossary/primary-diagnosis medical condition status An action specification that indicates why a Condition is no longer valid with respect to the purpose specified within the source data. Oliver He, Long Tran https://ohdsi.github.io/CommonDataModel/cdm54.html#CONDITION_OCCURRENCE In OMOP CDM, a Stop Reason does not necessarily imply that the condition is no longer occurring. medical condition stop reason specification The status of have the primary admission diagnosis Oliver He, Long Tran primary admission diagnosis https://athena.ohdsi.org/search-terms/terms/32901 https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status primary admission diagnosis status OMOP4976971 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status confirmed diagnosis status OMOP4976963 Principal diagnosis describes the underlying cause behind a patient’s initial hospital admission and is assigned only after a physician has completed necessary tests and examinations. Oliver He, Long Tran https://www.definitivehc.com/resources/glossary/principal-diagnosis principal diagnosis A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://medical-dictionary.thefreedictionary.com/discharge+diagnosis discharge diagnosis status OMOP4976966 A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. Oliver He, Long Tran primary admission diagnosis https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://ushik.ahrq.gov/ViewItemDetails?system=mdr&itemKey=85779000#:~:text=Definition%3A,same%20as%20the%20Preoperative%20Diagnosis. postoperative diagnosis status OMOP4976968 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status preliminary diagnosis status OMOP4976969 A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://ushik.ahrq.gov/ViewItemDetails?system=mdr&itemKey=85778000#:~:text=Definition%3A,will%20be%20confirmed%20during%20surgery. preoperative diagnosis status OMOP4976970 An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. Oliver He, Long Tran admission diagnosis https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://manual.jointcommission.org/releases/TJC2016B/DataElem0540.html#:~:text=Definition%3A&text=The%20admitting%20diagnosis%20is%20defined,that%20inpatient%20care%20was%20necessary. admission diagnosis status OMOP4976960 A cause of death is an official determination of conditions resulting in a human's death, which may be recorded on a death certificate. A cause of death is determined by a medical examiner. Oliver He, Long Tran cause of death https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://en.wikipedia.org/wiki/Cause_of_death https://www.cdc.gov/nchs/data/misc/hb_cod.pdf cause of death status OMOP4976961 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status primary referral diagnosis status OMOP4976974 A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://www.healthdirect.gov.au/what-is-a-referral#:~:text=A%20referral%20is%20a%20written,you%20for%20a%20particular%20condition. referral diagnosis status OMOP4976975 A secondary diagnosis is a condition that coexists at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://medcom.uiowa.edu/theloop/announcements/understanding-principal-and-secondary-conditions-2 secondary diagnosis status OMOP4976978 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status secondary discharge diagnosis status OMOP4976979 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status secondary referral diagnosis status OMOP4976980 The status of have the primary admission diagnosis Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms/32901 https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status preliminary admission diagnosis status OMOP4976971 The status of have the primary admission diagnosis Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms/32901 https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status preliminary discharge diagnosis status OMOP4976971 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status condition to be diagnosed by procedure status OMOP4976962 A contributory cause of death is a significant condition that unfavourably influences the course of the morbid process and thus contributes to the fatal outcome, but which is not related to the disease or condition directly causing death. Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://stats.oecd.org/glossary/detail.asp?ID=444 contributory cause of death status OMOP4976964 An immediate cause of death is a final disease, injury, or complication directly causing the death Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://www.cdc.gov/nchs/data/misc/hb_cod.pdf immediate cause of death status OMOP4976967 A process of a person’s exposure to a foreign physical object or instrument which is used for diagnostic or therapeutic purposes through a mechanism beyond chemical action. Devices include implantable objects (e.g. pacemakers, stents, artificial joints), medical equipment and supplies (e.g. bandages, crutches, syringes), other instruments used in medical procedures (e.g. sutures, defibrillators) and material used in clinical care (e.g. adhesives, body material, dental material, surgical material). Oliver He, Long Tran device exposure https://ohdsi.github.io/CommonDataModel/cdm54.html#DEVICE_EXPOSURE medical device exposure http://purl.obolibrary.org/obo/NCIT_C102617 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status primary discharge diagnosis status OMOP4976973 the date or time on which a device exposure occurs Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#DEVICE_EXPOSURE device exposure temporal region The date on which a device exposure ends. Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#DEVICE_EXPOSURE "Put the end date or discontinuation date as it appears from the source data or leave blank if unavailable." http://ohdsi.github.io/CommonDataModel/cdm54.html#DEVICE_EXPOSURE device exposure end date The date and time on which a device exposure ends. Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#DEVICE_EXPOSURE "If a source does not specify datetime the convention is to set the time to midnight (00:00:0000)." http://ohdsi.github.io/CommonDataModel/cdm54.html#DEVICE_EXPOSURE device exposure end datetime Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status secondary admission diagnosis status OMOP4976977 A medical condition status in which the subject is not presently experiencing the condition or situation and there is a negligible perceived risk of the condition or situation returning. Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms/32906 https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://build.fhir.org/ig/HL7/UTG/CodeSystem-condition-clinical.html resolved condition status OMOP4976976 The underlying cause of death refers to the disease or injury that initiated the train of morbid events leading directly to death or the circumstances of the accident or violence that produced the injury. Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://stats.oecd.org/glossary/detail.asp?ID=2790 https://www.cdc.gov/nchs/data/misc/hb_cod.pdf underlying cause of death status OMOP4976981 The date on which a device exposure starts. Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#DEVICE_EXPOSURE "Valid entries include a start date of a procedure to implant a device, the date of a prescription for a device, or the date of device administration." http://ohdsi.github.io/CommonDataModel/cdm54.html#DEVICE_EXPOSURE device exposure start date The date and time on which a device exposure starts. Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#DEVICE_EXPOSURE "This is not required, though it is in v6. If a source does not specify datetime the convention is to set the time to midnight (00:00:0000)." http://ohdsi.github.io/CommonDataModel/cdm54.html#DEVICE_EXPOSURE device exposure start datetime the date or time on which a drug exposure occurs in a patient Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE drug exposure temporal region The date on which a drug exposure starts. Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE "Valid entries include a start date of a prescription, the date a prescription was filled, or the date on which a Drug administration was recorded. It is a valid ETL choice to use the date the drug was ordered as the DRUG_EXPOSURE_START_DATE." http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE drug exposure start date The date and time on which a drug exposure starts. Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE "This is not required, though it is in v6. If a source does not specify datetime the convention is to set the time to midnight (00:00:0000)." http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE drug exposure start datetime The date on which a drug exposure ends for a patient. Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE drug exposure end date The date and time on which a drug exposure ends for a patient. Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE "This is not required, though it is in v6. If a source does not specify datetime the convention is to set the time to midnight (00:00:0000)". http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE drug exposure end datetime The reason a person stopped a medication as it is represented in the source. Reasons include regimen completed, changed, removed, etc. Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE This information is often not populated in source data and it is a valid etl choice to leave it blank if the information does not exist. This field will be retired in v6.0 of the OMOP CDM, . http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE drug exposure stop reason specification An action specification that represents the intended refills at time of the prescription. Oliver He, Long Tran drug refills specification from prescription http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE This is only filled in when the record is coming from a prescription. http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE drug refills specification The end date of a drug exposure as it appears in the source data Oliver He, Long Tran http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE drug exposure verbatim end date An exposure or contact of a person to a drug. The drug exposure includes drug dispensing or administration for a person. http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE This term is used in OMOP CDM. This term appears similar to 'drug administration'. However, drug exposure also covers involuntary, but drug administration usually means voluntary. More discussion is needed. http://purl.obolibrary.org/obo/NCIT_C41362 drug exposure In drug exposure, the quantity refers to number of pieces, e.g. tablets. In the example: 20 Ingredient dose= quantity x amount_value [amount_unit_concept_id] Acetaminophen dose = 20 x 500mg = 10,000mg Daily dose = Acetaminophen dose/drug duration The quantity of drug exposure refers to the number of drug pieces, e.g. tablets, that are exposed to a person. Long Tran, Oliver He http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE https://ohdsi.github.io/CommonDataModel/drug_dose.html quantity of drug exposure This days of the supply of a drug that is given on the prescription. Long Tran, Oliver He days supply of drug http://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE days of drug supply A period time when an observation is conducted. Oliver He, Long Tran participant observation duration time https://ohdsi.github.io/CommonDataModel/cdm60.html#OBSERVATION_PERIOD In OMOP, the observation table contains records that defines spans of time during which two conditions are expected to hold: (i) Clinical Events that happened to the Person are recorded in the Event tables, and (ii) absense of records indicate such Events did not occur during this span of time. observation period EUPATH_0000138 A temporal region that is associated with an observation Long Tran, Oliver He https://ohdsi.github.io/CommonDataModel/cdm60.html#OBSERVATION_PERIOD observation temporal region A date when an observation starts. Long Tran, Oliver He https://ohdsi.github.io/CommonDataModel/cdm60.html#OBSERVATION_PERIOD observation period start date A date when an observation ends. Long Tran, Oliver He https://ohdsi.github.io/CommonDataModel/cdm60.html#OBSERVATION_PERIOD observation period end date A time when a measurement is conducted. Long Tran, Oliver He https://ohdsi.github.io/CommonDataModel/cdm54.html#MEASUREMENT measurement time A date when a measurement is conducted. Long Tran, Oliver He https://ohdsi.github.io/CommonDataModel/cdm54.html#MEASUREMENT measurement date A datetime when a measurement is conducted. Long Tran, Oliver He https://ohdsi.github.io/CommonDataModel/cdm54.html#MEASUREMENT measurement datetime A unique key given to a Measurement record for a Person. Such record can be used in the ETL for how duplicate Measurements during the same Visit were handled. Oliver He, Long Tran measurement ID http://ohdsi.github.io/CommonDataModel/cdm54.html#MEASUREMENT clnical measurement identifier Payer plan is a plan specification that captures the details of the period of time that a person is continuously enrolled under a specific health Plan benefit structure from a given payer. Each person receiving healthcare is typically covered by a health benefit plan, which pays for (fully or partially), or directly provides, the care. These benefit plans are provided by payers, such as health insurances or state or government agencies. Long Tran, Oliver He http://ohdsi.github.io/CommonDataModel/cdm54.html#PAYER_PLAN_PERIOD payer plan A temporal region that is associated with the payment process defined in a payer plan Long Tran, Oliver He http://ohdsi.github.io/CommonDataModel/cdm54.html#PAYER_PLAN_PERIOD payer plan temporal region A period time of the payment that is covered by a payer plan for a person. Long Tran, Oliver He http://ohdsi.github.io/CommonDataModel/cdm54.html#PAYER_PLAN_PERIOD payer plan period A date when a payer plan period starts. Long Tran, Oliver He http://ohdsi.github.io/CommonDataModel/cdm54.html#PAYER_PLAN_PERIOD payer plan period start date A date when a payer plan period ends. Long Tran, Oliver He http://ohdsi.github.io/CommonDataModel/cdm54.html#PAYER_PLAN_PERIOD payer plan period end date A process that a patient experiences over a period of time. Oliver He, Long Tran https://ohdsi.github.io/CommonDataModel/cdm54.html medical occurrence An electronic health record that records the information of medical condition. Long Tran, Oliver He Condition Occurrence Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#CONDITION_OCCURRENCE condition occurrence record An electronic health record that records the information of medical cost. Long Tran, Oliver He Cost Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#COST electronic health cost record As part of the OMOP CDM, use the type concept that be reflects the source of the death record. It is possible that an administrative claims database would source death information from a government file so do not assume the Death Type is the same as the Visit Type, etc. An electronic health record that records the information of the death record of a person. Long Tran, Oliver He Death Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#DEATH electronic death record An electronic health record that records the information of medical device usage. Long Tran, Oliver He Device Exposure Type Concept Device Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#DEVICE_EXPOSURE electronic device record As part of the OMOP CDM, choose the drug_type_concept_id that best represents the provenance of the record, for example whether it came from a record of a prescription written or physician administered drug. An electronic health record that records the information of drug usage including drug prescriptions written, prescriptions dispensed, medication history, patient-reported exposure, etc. Long Tran, Oliver He Drug Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#DRUG_EXPOSURE electronic drug record A data item that captures clinical facts about a patient obtained in the context of examination, questioning or a procedure. Long Tran, Oliver He medical observation observation http://ohdsi.github.io/CommonDataModel/cdm54.html#OBSERVATION This term is dervied from OMOP:Observation term. Observations differ from Measurements in that they do not require a standardized test or some other activity to generate clinical fact. Typical observations are medical history, family history, the stated need for certain treatment, social circumstances, lifestyle choices, healthcare utilization patterns, etc. medical observation data An electronic health record that records the information of medical Episode record. Long Tran, Oliver He Procedure Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#EPISODE electronic episode record An electronic health record that records the information of medical measurement record. Long Tran, Oliver He Measurement Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#MEASUREMENT electronic measurement record As part of the OMOP CDM, the provenance of the notes most likely will be EHR. An electronic health record that records the information of medical notes. Long Tran, Oliver He Note Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#NOTE electronic health note record An electronic health record that records the information of medical observational record. Long Tran, Oliver He Observation Period Type Concept Observation Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#OBSERVATION electronic health observation record As part of the OMOP CDM, PROCEDURE TYPE CONCEPT best represents the provenance of the record, for example whether it came from an EHR record or billing claim. If a procedure is recorded as an EHR encounter, the PROCEDURE_TYPE_CONCEPT would be ‘EHR encounter record’. An electronic health record that records the information of Procedure record. Long Tran, Oliver He Procedure Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#PROCEDURE_OCCURRENCE electronic health procedure record An electronic health record that records the information of the specimen record. Long Tran, Oliver He Specimen Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#SPECIMEN electronic specimen record As part of the OMOP CDM, populate this field based on the provenance of the visit record, as in whether it came from an EHR record or billing claim. An electronic health record that records the information of medical visit. Long Tran, Oliver He Visit Type Concept https://ohdsi.github.io/CommonDataModel/cdm54.html#PROCEDURE_OCCURRENCE electronic medical visit record Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status preliminary diagnosis OMOP4976969 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms/32901 https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status preliminary admission diagnosis OMOP4976971 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms/32901 https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status preliminary discharge diagnosis OMOP4976971 The primary diagnosis is a diagnosis of the patient condition that demands the most provider resources during the patient’s stay. Oliver He, Long Tran primary diagnosis https://athena.ohdsi.org/search-terms/terms/32902 https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://www.definitivehc.com/resources/glossary/primary-diagnosis There is often confusion surrounding primary and principal diagnoses and, consequently, the terms are commonly used interchangeably. While these can be (and frequently are) the same diagnosis in practice, their definitions are distinct. While a principal diagnosis is the underlying cause of patient symptoms, the primary diagnosis is used for healthcare billing purposes. Reference: https://www.definitivehc.com/resources/glossary/primary-diagnosis primary diagnosis OMOP4976972 Oliver He, Long Tran primary admission diagnosis https://athena.ohdsi.org/search-terms/terms/32901 https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status primary admission diagnosis OMOP4976971 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status primary discharge diagnosis OMOP4976973 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status primary referral diagnosis OMOP4976974 A secondary diagnosis is a diagnosis made at the time of admission, that develops subsequently, or that affects the treatment received and/or length of stay. Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://medcom.uiowa.edu/theloop/announcements/understanding-principal-and-secondary-conditions-2 secondary diagnosis OMOP4976978 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status secondary admission diagnosis OMOP4976977 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status secondary discharge diagnosis OMOP4976979 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status secondary referral diagnosis OMOP4976980 An admitting diagnosis is defined as the initial working diagnosis documented by the patient's admitting or attending physician who determined that inpatient care was necessary. Oliver He, Long Tran admission diagnosis https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://manual.jointcommission.org/releases/TJC2016B/DataElem0540.html#:~:text=Definition%3A&text=The%20admitting%20diagnosis%20is%20defined,that%20inpatient%20care%20was%20necessary. admission diagnosis OMOP4976960 Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status confirmed diagnosis OMOP4976963 The diagnosis of the death of a person Oliver He, Long Tran death diagnosis https://athena.ohdsi.org/search-terms/terms/32895 https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status death diagnosis OMOP4976965 A discharge diagnosis is a final diagnosis given a patient before release from the hospital after all testing, surgery, and workup are complete. Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://medical-dictionary.thefreedictionary.com/discharge+diagnosis discharge diagnosis OMOP4976966 A postoperative diagnosis is a diagnosis or diagnoses discovered or confirmed during the surgery. Often it is the same as the preoperative diagnosis. Oliver He, Long Tran primary admission diagnosis https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://ushik.ahrq.gov/ViewItemDetails?system=mdr&itemKey=85779000#:~:text=Definition%3A,same%20as%20the%20Preoperative%20Diagnosis. postoperative diagnosis OMOP4976968 A medical occurrence in which a patience is exposed to a medical related material entity such as drug or medical device. Medical exposure refers primarily to exposure incurred by patients for the purpose of medical diagnosis or treatment. Oliver He, Long Tran https://www.sciencedirect.com/topics/engineering/medical-exposure medical exposure A preoperative diagnosis is a surgical diagnosis or diagnoses that are assigned to the patient before the surgical procedure, and is the reason for the surgery. A preoperative diagnosis is, in the opinion of the surgeon, the diagnosis that will be confirmed during surgery. Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://ushik.ahrq.gov/ViewItemDetails?system=mdr&itemKey=85778000#:~:text=Definition%3A,will%20be%20confirmed%20during%20surgery. preoperative diagnosis OMOP4976970 A referral is a written request from one health professional to another health professional or health service, asking them to diagnose or treat you for a particular condition. Oliver He, Long Tran https://athena.ohdsi.org/search-terms/terms?domain=Condition+Status https://www.healthdirect.gov.au/what-is-a-referral#:~:text=A%20referral%20is%20a%20written,you%20for%20a%20particular%20condition. referral diagnosis OMOP4976975 17 A age quality that is measured by the value of less than 18 years old Fred Dowd, Oliver He age less than 18 years old age less than 18 years GFR 30-59 mL/min/1.73m2 eGFR >=60 mL/min/1.73m2 with urine albumin excretion >= 30 mg/g creatinine eGFR >= 60 mL/min/1.73m2 with urine protein excretion >= 150 mg/g creatinine A role of a person (e.g., a study participant, participant's family member, or participant's physician) who provides the medical history information. Edison Ong, Oliver He medical history information provider role A role of a person who is a family member of a participant in an investigation study. Edison Ong, Oliver He study participant's family member role a role of a physician who takes care of a study participant Edison Ong, Oliver He study participant's physician role An age when a disease is first diagnosed age at diagnosis of disease age at diagnosis of kidney disease Whether chronic kidney disease Whether acute kidney injury time of biopsy year of kidney biopsy time of kidney biopsy month of kidney biopsy age at the start of kidney stone An age when a disease started in a patient age at the start of disease Whether diabetes age at diagosis of diabetes What disease What type of diabetes treatment question medicatoin treatment question surgical treatment question Whether taking medication for diabetes An age when a medication is first used age at the start of medication age at the start of taking medication for diabetes What medication What medication taken for diabetes Whether insulin taken for diabetes Whether diabetes during pregnancy a clinical trial is a medical interventional study where participants are assigned prospectively to an intervention or interventions according to a protocol to evaluate the safety and efficacy of the intervention(s) on biomedical or other health related outcomes. The Interventions include but are not restricted to drugs, cells and other biological products, surgical procedures, radiologic procedures, devices, behavioral treatments, process-of-care changes, preventive care, etc. Oliver He, Asiyah Yu Lin, Qingliang Li interventional trial https://clinicaltrials.gov/ct2/search/map https://en.wikipedia.org/wiki/Clinical_trial https://prsinfo.clinicaltrials.gov/definitions.html https://www.who.int/ictrp/en/ clinical trial A clinical trial that is at Early Phase 1 or Phase 0 A clinical trial that is at an Early Phase i or Phase 0, which is designed to use an investigational agent that is available only in very limited quantities and which has never previously given to humans or for which there is extremely limited human experience. Phase 0 clinical trials are intended to enable researchers to understand the path of the drug in the body and its efficacy. Adverse event reporting in Phase 0 trials is expedited. [def-source: NCI] Leon Li, Asiyah Lin, Oliver He Phase 0 clinical trial Phase 0 trial Pre-Clinical Trial http://purl.obolibrary.org/obo/NCIT_C54721 https://en.wikipedia.org/wiki/Clinical_trial Early Phase 1 clinical trial A clinical trial that is at Phase 1, which is often the first-in-man trial, and it tests within a small group of people (typically 20-80) to evaluate safety, determine safe dosage ranges, and begin to identify side effects. A drug's side effects could be subtle or long term, or may only happen with a few people, so phase 1 trials are not expected to identify all side effects. Leon Li, Asiyah Lin, Oliver He Phase 1 trial Phase I clinical trial clinical trial for safety screening http://purl.obolibrary.org/obo/NCIT_C15600 https://en.wikipedia.org/wiki/Clinical_trial C0920321 C15600 Phase 1 clinical trial A clinical trial that is at Phase 2, which is designed to study a biomedical or behavioral intervention in a larger group of people (several hundred), to evaluate the drug's effectiveness for a particular indication in patients with the disease or condition under study, and to determine the common short-term side effects and risks associated with the intervention. [def-source: NCI] Leon Li, Asiyah Lin, Oliver He Phase 2 trial Phase II clinical trial Phase II trial http://purl.obolibrary.org/obo/NCIT_C15601 https://en.wikipedia.org/wiki/Clinical_trial C0282460 C15601 Phase 2 clinical trial A clinical trial that is at Phase 3 A clinical trial that is at Phase 3, which is designed to investigate the efficacy of the biomedical or behavioral intervention in large groups of human subjects (from several hundred to several thousand), to confirm efficacy, to monitor adverse reactions to the new medication or treatment regimen with respect to long-term use and by comparing the intervention to other standard or experimental interventions as well as to a placebo. [def-source: NCI] Leon Li, Asiyah Lin, Oliver He Phase III trial https://en.wikipedia.org/wiki/Clinical_trial C0282461 C15602 Phase 3 clinical trial A clinical trial that is at Phase 4 Leon Li, Asiyah Lin, Oliver He https://en.wikipedia.org/wiki/Clinical_trial C0282462 C15603 Phase 4 clinical trial A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities quality (PATO) PATO:0000072 trait PATO:0000001 quality A time quality inhering in a bearer by virtue of how long the bearer has existed. quality PATO:0000011 age A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts. PATO:0002015 composed of compositionality content structure, composition PATO:0000025 For example calcium composition (which may inhere in bone), haemoglobin composition (which may inhere in blood). composition An organismal quality inhering in a bearer by virtue of the bearer's ability to undergo sexual reproduction in order to differentiate the individuals or types involved. 患者生理性别在特定编码体系中的代码 Suyuan Peng, Hong Yu, Yongqun He 《电子病历基本数据集 第10部分：住院病案首页》WS 445.10-2014 quality PATO:0000047 biological sex A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure. quality PATO:0000051 morphology A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc). PATO:0001647 relational shape quality quality PATO:0000052 Shapes are invariant on size transformations. Shapes can be subdivided into 2D and 3D shapes, We can also make a distinction between shapes of complete self-connected objects, and shapes of parts of objects. shape A spatial quality inhering in a bearer by virtue of the bearer's exhibiting repetition of placement of its parts. PATO:0000132 PATO:0001565 distribution pattern PATO:0000060 spatial pattern PATO:0000068 TODO: define this or obsolete it and move children somewhere else. qualitative A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average. PATO:0000069 deviation (from_normal) deviation(from_normal) The number of entities of this type that are part of the whole organism. PATO:0000053 PATO:0000071 PATO:0001169 PATO:0001226 presence or absence in organism quantitative count in organism number presence PATO:0000070 This term was originally named "presence". It has been renamed to reduce ambiguity. Consider annotating with the reciprocal relation,PATO:0001555, has_number_of. For example, rather than E=fin ray Q=count in organism C=10, say E=organism Q=has number of E2= fin ray C=10. amount A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude. PATO:0000117 size A 1-D extent quality inhering in a bearer by virtue of the bearer's vertical dimension of extension. quality PATO:0000119 height A physical quality inhering in a bearer that has mass near a gravitational body. quality PATO:0000128 weight A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity. PATO:0001032 PATO:0001631 location placement relational spatial quality PATO:0000140 position A morphology quality inhering in a bearer by virtue of the bearer's relative position, shape, arrangements and connectivity of an organism's various parts; the pattern underlying its form. PATO:0001452 conformation relational structural quality quality PATO:0000141 structure A quality of a single process inhering in a bearer by virtue of the bearer's occurrence per unit time. PATO:0000161 rate An organismal quality inhering in a bearer by virtue of the bearer's behavior aggregate of the responses or reactions or movements in a given situation. PATO:0001722 behavioural quality quality PATO:0000186 behavioral quality A biological sex quality inhering in an individual or a population that only produces gametes that can be fertilised by male gametes. quality PATO:0000383 female A biological sex quality inhering in an individual or a population whose sex organs contain only male gametes. quality PATO:0000384 male A quality of a process inhering in a bearer by virtue of the bearer's having a sudden onset, sharp rise, and short course. PATO:0000389 acute A branchiness quality inhering in a bearer by virtue of the bearer's having branches. ramified ramiform quality PATO:0000402 branched A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center. quality round rounded PATO:0000411 circular A pattern quality inhering in a bearer by virtue of the bearer's having a repeatable or predictable placement. PATO:0000440 regular spatial pattern A quality inhering in a bearer by virtue of the bearer's deviation from normal or average. aberrant atypia atypical defective PATO:0000460 abnormal A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average. average PATO:0000461 normal A quality denoting the lack of an entity. PATO:0001996 absence absent from organism PATO:0000462 We recommend using the new absent terms (physical absence, absent anatomical entity, or absent process) instead of this class. This is a legacy term and will ultimately be obsoleted. See https://github.com/pato-ontology/pato/issues/331. absent A quality inhering in a bearer by virtue of the bearer's existence. present in organism PATO:0000467 present An amount which is relatively high. PATO:0000420 PATO:0000650 increased number present in greater numbers in organism supernumerary accessory increased PATO:0000470 increased amount A size quality which is relatively high. PATO:0001202 big enlarged expanded great large PATO:0000586 increased size A size quality which is relatively low. hypoplasia underdeveloped reduced small tiny PATO:0000587 decreased size A pattern where all the repeated elements are oriented in the same direction. PATO:0000614 oriented A positional quality inhering in a bearer by virtue of the bearer's having two sides; two-sided. PATO:0000618 bilateral A positional quality inhering in a bearer by virtue the bearer's being changed in abnormal position. PATO:0000621 ectopic mislocalized PATO:0000628 mislocalised A spatial pattern inhering in a bearer by virtue of the bearer's involvement of only one part or side. PATO:0000634 unilateral A structural quality inhering in a bearer by virtue of the bearer's exhibiting an alteration in size, shape or organization of its constituent cells. dysplasia PATO:0000640 dysplastic A physical quality inhering in an organ or tissue by virtue of the bearer's exhibiting a decreased number of cells, typically associated with a decrease in size. PATO:0000942 hypoplasia underdeveloped PATO:0000645 hypoplastic A structural quality inhering in a bearer by virtue of the bearer's undergoing unprogrammed cell death. PATO:0000647 necrotic A rate which is relatively low. slow rate PATO:0000911 decreased rate A rate which is relatively high. fast rate high rate PATO:0000912 increased rate A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section. ellipse-shaped ellipsoid elliptical quality oval ovoid PATO:0000947 elliptic A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities. PATO:0002079 Wikipedia:Physical_property relational physical quality quality PATO:0001018 physical quality A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts. PATO:0001025 pressure A quality which inheres in an process. PATO:0001239 PATO:0001240 quality of a process quality of occurrent quality of process relational quality of occurrent quality PATO:0001236 See comments of relational quality of a physical entity. process quality A quality which inheres in a continuant. PATO:0001237 PATO:0001238 snap:Quality monadic quality of a continuant multiply inhering quality of a physical entity multiply inhering quality of a physical entity quality of a continuant quality of a single physical entity quality of an object quality of continuant monadic quality of an object monadic quality of continuant quality PATO:0001241 Relational qualities are qualities that hold between multiple entities. Normal (monadic) qualities such as the shape of a eyeball exist purely as a quality of that eyeball. A relational quality such as sensitivity to light is a quality of that eyeball (and connecting nervous system) as it relates to incoming light waves/particles. physical object quality A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. PATO:0000081 period time PATO:0001309 duration A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. quality PATO:0001374 ploidy A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes. quality PATO:0001393 euploid A monadic quality of continuant that exists at the cellular level of organisation. quality PATO:0001396 cellular quality A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types. quality PATO:0001397 cellular potency A cellular potency that is the capacity to produce only one differentiated cell type. quality PATO:0001400 Unipotent cells have the quality of self-renewal which distinguishes them from non-stem cells. unipotent A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity. quality PATO:0001401 Less potent than multipotent, often thought of as precursor or progenitor cell status. oligopotent A cellular potency that is the capacity to form multiple differentiated cell types. quality PATO:0001402 multipotent A cellular quality inhering in a bearer by virtue of bearer's number of nuclei. quality PATO:0001404 nucleate quality A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus. anucleate A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus. quality PATO:0001407 mononucleate A composition quality inhering in an bearer by virtue of the bearer's being encrusted or impregnated with calcium carbonate (CHEBI:3311). calcareous calcification PATO:0001447 calcified A quality inhering in a bearer by virtue of the bearer's being present in two copies. doubled PATO:0001473 duplicated A quality of a single physical entity that arises by virtue of whether the bearer exhibits the ability to perform a regular function(s). PATO:0001509 functionality A functionality quality held by the bearer when the latter is able to perform a regular function(s). PATO:0001510 functional A disfunctional quality held by the bearer when the latter is unable to perform a regular function(s). PATO:0001640 disfunctional functional failure defective failure PATO:0001511 non-functional A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. liquidity quality PATO:0001548 quality of a liquid The number of parts of a particular type that the bearer entity has. This is a relational quality, and thus holds between two entities: the bearer of the quality, and the type of parts. OBO_REL:has_part extra or missing physical or functional parts has or lacks parts of type mereological quality number of cardinality number PATO:0001555 has number of A quality of a process inhering in a bearer by virtue of the bearer's lacking a processual part as specified by the additional entity. PATO:0001558 lacking processual parts A quality of a process inhering in a bearer by virtue of the bearer's processual parts. PATO:0001564 extra or missing processual parts A size quality inhering in a bearer by virtue of the bearer's being made wider or larger in all dimensions. PATO:0001571 dilated A pressure which is relatively high. high pressure PATO:0001576 increased pressure A physical quality that is the ability to contract or shrink. quality PATO:0001579 contractility An oriented quality inhering in a bearer by virtue of the bearer's being relocated around an axis. rotation PATO:0001599 rotated A size quality inhering in a bearer by virtue of a part or parts of the bearer's being decreased in size due to reduction in tissue mass through wasting. atrophic PATO:0001623 atrophied A functionality quality held by the bearer when the latter exhibits decreased ability to perform a regular function(s). PATO:0001556 PATO:0001568 PATO:0001641 PATO:0001642 dysfunction dysfunctional having decreased function lacks function of type low functionality partial functionality impaired PATO:0001624 decreased functionality Structure quality that is the presence of at least one sac-like closed membranous structure containing one or more liquid or solid organism substances. Structure quality that is the presence of closed epithelium bounded capsules containing one or more liquid or solid organism substances. cysts PATO:0001673 Cystic is an abnormal condition. cystic A contractility quality inhering in a bearer by virtue of the bearer's ability of contracting or being contracted. quality PATO:0001690 This refers to the disposition of the bearer. contractile A structural quality inhering in a bearer by virtue of the bearer's being drawn together, compressed or squeezed physically. PATO:0001837 stenosis stenotic stricture PATO:0001847 constricted A shape quality in a bearer by virtue of the bearer's curving inward. quality PATO:0001857 concave A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. PATO:0001863 chronic A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section. PATO:0001203 rod-like rod-shaped tubulate quality PATO:0001873 cylindrical A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter. disc-shaped disk-shaped discoid A concave 3-D shape quality inhering in a bearer by virtue of the bearer's being shaped in the form of the letter U. horseshoe shaped horseshoe PATO:0001879 U-shaped An organismal quality inhering in a bearer by virtue of the bearer's physical expression of sexual characteristics. quality PATO:0001894 phenotypic sex A shape quality inhering in a bearer by virtue of the bearer's being partly divided into a determinate number of regions. quality PATO:0001979 lobed A structural quality inhering in a bearer by virtue of the bearer's having a three dimensional cavity with a narrow or no opening, and often containing an anatomical substance. sacular quality PATO:0001987 saccular An organismal quality inhering in a bearer by virtue of the bearer's consisting cells. quality PATO:0001992 cellularity A cellularity quality inhering in a bearer by virtue of the bearer's consisting of more than one cell. quality PATO:0001993 multicellular A quality that inheres in an entire organism or part of an organism. quality PATO:0001995 organismal quality An amount which is relatively low. PATO:0000419 PATO:0000468 decreased number present in fewer numbers in organism decreased reduced subnumerary PATO:0001997 decreased amount The bearer of this quality has_part < n of the indicated entity type, where n is the normal amount for a comparable organism. Note that the bearer of the quality is the whole, not the part. Formally: If a bearer entity e has fewer parts of type X at time t, then the number of instances x of X at t such that x part_of e is < n, where n is either the normal number for comparable entities, or n is stated explicitly. This case includes the limit case, where the bearer lacks all parts of the specified type. loss of PATO:0001999 lacks parts or has fewer parts of type A quality of physical entities inhering in a bearer by virtue of the bearer's lacking a physical part as specified by the additional entity. PATO:0001557 OBO_REL:lacks_part lacks all physical parts of type PATO:0002000 Example: [E=organism Q=lacks_all_parts_of_type E2=Wing] - applies to an organism. A relational quality in which the bearer entity has no parts of the specified type. The bearer of this quality has_part = 0 of the indicated entity type, where a comparable organism usually has at least 1 part of the same type. Note that the bearer of the quality is the whole, not the part. Formally: If a bearer entity e lacks all parts of type X at time t, then there exists no instances x of X at t such that x part_of e that has no wings, where wings are normally present in that organism type. In OWL this is equivalent to a restriction on the OBO_REL:has_part relation with cardinality=0, i.e has_part 0 E2. lacks all parts of type Surface shape that refers to the inward or outward curvature of the surface. quality PATO:0002005 concavity A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity. quality 2-D projection cross-sectional PATO:0002006 2-D shape A complete three dimensional shape in which for every line connecting pair of points on the object is within the object. Or: a shape lacking cavities. Contrast: concave. Image:http://upload.wikimedia.org/wikipedia/commons/0/06/Convex_polygon_illustration1.png quality PATO:0002007 Use this term or an is_a child of this term when the entire shape of the object is known. convex 3-D shape A complete three dimensional shape in which there is a line connecting pair of points on the object that lies outside the object. Or: a shape with cavities. Contrast: concave. Image:http://en.wikipedia.org/wiki/Image:Convex_polygon_illustration2.png quality PATO:0002008 concave 3-D shape A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity. quality PATO:0002009 branchiness A structural quality which is held by a bearer when the latter's disposition the presence of abnormally proliferating masses of cells. tumorous neoplastic A structural quality that inheres in a bearer by virtue of the bearer's containing hollow areas. quality PATO:0002014 structure, cavities A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces. quality PATO:0002039 biconcave A branched quality inhering in a bearer by virtue of the bearer's having smaller branches arising from larger branches. Resembling a tree in branching structure. 2009-02-15T08:11:41Z dendriform dendroid dendroidal quality PATO:0002045 dendritic 2009-06-05T09:16:46Z PATO:0002062 physical quality of a process A molecular quality that arises from the molecular attraction exerted between two atoms or compounds. affinity A quality inhering in a bearer by virtue of the bearer's having an empty space or cavity within. 2009-09-18T02:19:20Z quality PATO:0002078 hollow Having extra or fewer parts. 2009-09-21T10:41:58Z PATO:0002083 altered number of A structure quality inhering in a bearer by virtue of the bearer's body containing more than one cyst - formations of sac-like closed membranous structures not associated with neoplasia. 2009-10-01T03:02:54Z multicystic PATO:0002089 polycystic A morphology quality inhering in a neoplastic cell by virtue of the bearer's exhibiting breakdown of cell-cell interaction maintaining tissue architecture, proliferative dysregulation and bizarre modification to nucleus size and shape. anaplastic An affinity inhering in a tissue constituent by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific ph conditions. An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific pH conditions. 2009-10-05T12:05:23Z quality PATO:0002094 basophilic A disposition inhering in a tumour by virtue of the bearer's disposition not to progress, invade surrounding tissues or metastasize. benign neoplastic, non-malignant A disposition inhering in a tumour by virtue of the bearer's disposition to progress, invade surrounding tissues or metastasize. neoplastic, malignant A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer. 2009-10-06T04:37:14Z quality PATO:0002124 laminar A disposition inhering in a tumour by virtue of the bearer's disposition to invade surrounding tissues. neoplastic, invasive A disposition inhering in a tumour by virtue of the bearer's disposition not to invade surrounding tissues. neoplastic, non-invasive A positional quality inhering in a bearer by virtue the bearer's being changed in position. 2010-03-01T02:56:33Z PATO:0002181 displaced A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc. relational molecular quality molecular quality A quality inhering in a bearer by virtue of its constitution. 2010-03-15T04:35:27Z quality PATO:0002198 quality of a substance A cylindrical shape quality inhering in a bearer by virtue of the bearer's being imperfectly cylindrical or approximately cylindrical. 2010-07-13T04:22:30Z quality PATO:0002226 subcylindrical A shape that inheres in a 3 dimensional entity. 2010-10-05T12:31:16Z quality PATO:0002266 3-D shape 2011-04-18T05:11:33Z PATO:0002290 aplastic/hypoplastic A cylindrical shape that is hollow. 2011-06-08T06:33:50Z tube like tube-shaped tubulate quality PATO:0002299 tubular A quality that has a value that is increased compared to normal or average. 2011-06-16T06:39:43Z PATO:0002300 increased quality A quality that has a value that is decreased compared to normal or average. 2011-06-16T06:40:15Z PATO:0002301 decreased quality A quality of a process that has a value that is decreased compared to normal or average. 2011-06-16T06:50:59Z PATO:0002302 decreased process quality A quality of an object that has a value that is decreased compared to normal or average. 2011-06-16T06:51:54Z PATO:0002303 decreased object quality A quality of a process that has a value that is increased compared to normal or average. 2011-06-16T06:53:08Z PATO:0002304 increased process quality A quality of an object that has a value that is increased compared to normal or average. 2011-06-16T06:54:01Z PATO:0002305 increased object quality A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a by virtue of the bearer's exhibiting a consistently sized and approximately round cross-section along its length, which is many times larger than its diameter. 2011-09-09T04:50:10Z quality PATO:0002309 Note that a fiber shaped object may take any circuitous or straight path through space (think of a length of string or rope). fiber shaped A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt 2011-10-12T12:45:16Z Lamé curve quality PATO:0002318 superelliptic An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for acidic dyes under specific pH conditions. 2012-12-17T03:01:19Z eosinophilic quality PATO:0002418 Eosin stains acidophilic structures, hence eosinophilic is the same as acidophilic. acidophilic Pertaining to the individual parts making up an aggregate fruit like a many-lobed "berry," such as a raspberry. 2012-12-17T03:11:10Z quality PATO:0002422 Acinus is Latin for berry. acinar A structure quality inhering in a bearer by virtue of the bearer's being capable of swelling or stretching. 2013-09-15T11:48:26Z quality PATO:0002468 distensible A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus. 2013-10-21T05:44:34Z quality PATO:0002505 nucleated A structural quality inhering in the bearer by virtue of the bearer consisting of multiple structures lacking any physical connection to each other. 2014-12-12T08:43:17Z quality PATO:0010001 disconnected A quality inhering in a structure by virtue of it consisting of many of repeated, similar or identical subunits, arranged in some orderly array. quality PATO:0015006 A complete coverage of this domain would subclasses homopolymeric, copolymeric, crystalline. polymeric A quality inhering in a bearer by virtue of the extent to which the bearer is capable of being stretched or swollen. quality PATO:0015008 distensibility A quality inhering in a cell by virtue of the cell having a high nuclear/cytoplasmic ratio. http://orcid.org/0000-0001-5208-3432 high N:C ratio quality PATO:0040072 A high nuclear/cytolasmic ratio is 70% or higher. high nuclear/cytoplasmic ratio A quality of continuant that exist at the anatomical level of organisation and anything under it. This includes, but is not limited to, cells , tissues, and components. http://orcid.org/0000-0001-7258-9596 quality PATO:0070044 anatomical structure quality A quality inhering in an anotomical structure by virtue of its capacity to be stained by specific histological dyes. http://orcid.org/0000-0001-7258-9596 quality PATO:0070045 anatomical histological quality An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction that stains and colors, pale-pink, with Wright-Giemsa stain. http://orcid.org/0000-0001-7258-9596 quality PATO:0070046 neutrophillic An affinity inhering in an anatomical structure by virtue of the bearer exhibiting a molecular interaction for both basic and acid stains under specific pH conditions. http://orcid.org/0000-0001-7258-9596 quality PATO:0070047 polychromatophilic A material entity that consists of two or more organisms, viruses, or viroids. A material entity that consists of two or more organisms, viruses, or viroids. collection of organisms collection of organisms A community of at least two different species, living in a particular area. Must have at least two populations of different species as members. envoPolar ecological community A collection of organisms of the same species whose members are all either genealogically related to each other or have mated with each other. community A collection of organisms that consists of two or more organisms from at least two species. multi-species collection of organisms A material entity that is one or more organisms, viruses or viroids. organismal entity An anatomical entity that is or was part of a plant. entidad anat&#243mica vegetal (Spanish, exact) 植物 解剖学（形態）的実体 (Japanese, exact) plant anatomical entity protein antithrombin III is a protein An amino acid chain that is produced de novo by ribosome-mediated translation of a genetically-encoded mRNA, and any derivatives thereof. natural protein native protein protein PR:000000001 The definition above excludes protein complexes, which some also consider a protein. Those who wish to refer to a class representing both senses of the word are directed to CHEBI:36080. Note that the definition allows for experimentally-manipulated genes, and allows for artifically-produced derivatives that mimic those found naturally. Proteins (in the sense defined here) that descended from a common ancestor can be classified into families and superfamilies composed of products of evolutionarily-related genes. The domain architecture of a protein is described by the order of its constituent domains. Proteins with the same domains in the same order are defined as homeomorphic [PRO:WCB]. protein A protein that is a translation product of the human CD19 gene or a 1:1 ortholog thereof. It is composed of an N-terminal extracellular domain containing two Ig-like C2-type (immunoglobulin-like) domains, followed by a single-pass transmembrane segment and a cytoplasmic C-terminal tail. CD19 expression is restricted to members of the B cell lineage. It functions as a co-receptor for B-cell antigen receptor (BCR), regulating signal transduction. IUPHARobj:2764 PIRSF:PIRSF016630 B-lymphocyte surface antigen B4 CD19 T-cell surface antigen Leu-12 differentiation antigen CD19 protein PR:000001002 Category=gene. Requested by=CL. CD19 molecule A protein that is a translation product of the human CD34 gene or a 1:1 ortholog thereof. It is a leukocyte membrane protein expressed specifically by lymphohematopoietic progenitor cells. It contains a single-pass transmembrane domain and that show distinct expression on early hematopoietic precursors and vascular-associated tissue. Acts as a scaffold that presents selectin carbohydrate ligands in a clustered, tissue specific manner to allow for higher avidity interactions between leukocytes and endothelial cells during the inflammatory process. In common with related sialomucins (endoglycan and podocalyxin), the extracellular region is dominated by an N-terminal mucin-like domain, which is densely substituted with sialylated O-linked carbohydrates. The mucin-like region is followed by a cysteine-containing and presumably globular domain. This domain may fold into an immunoglobulin-like structure as the positions of 2 of the cysteines are conserved in the C2 set of the immunoglobulin superfamily. The cytoplasmic domain is around 73-76 residues long and highly conserved. PIRSF:PIRSF028749 CD34 hematopoietic progenitor cell antigen CD34 protein PR:000001003 Category=gene. Requested by=CL. CD34 molecule A protein that is a translation product of the human CD4 gene or a 1:1 ortholog thereof. CD4 is an accessory protein for MHC class-II antigen/T-cell receptor interaction. It is the primary receptor for HIV-1. CD4 has four immunoglobulin-like domains in its extracellular region that share the same structure, but can differ in sequence. PIRSF:PIRSF001977 CD4 T-cell differentiation antigen L3T4 T-cell surface antigen T4/Leu-3 T-cell surface glycoprotein CD4 protein PR:000001004 Category=gene. Requested by=CL. CD4 molecule An integrin alpha that contains an A domain. A hallmark of this class is the presence of a von Willebrand factor type A domain (Pfam:PF00092) (I-domain) of approximately 200 amino acid residues at the N terminus, which confers divalent cation binding properties. Unlike other integrin alpha proteins, they do not undergo proteolytic cleavage. PIRSF:PIRSF002497 integrin alpha with I domain protein PR:000001005 Category=family. integrin alpha with A domain A protein that is a translation product of the human PTPRC gene or a 1:1 ortholog thereof. It is composed of an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic protein-tyrosine phosphatase domains. Contains 1 to 3 copies of the Fibronectin type III domain (Pfam:PF00041) followed by two copies of the Protein-tyrosine phosphatase (Pfam:PF00102) domain. Receptor-type tyrosine-protein phosphatase C (CD45) regulates signal transduction and lymphocyte activation by specific association with receptor molecules on T and B cells. Multiple isoforms of CD45 (180-235 kDa) can be generated asa result of alternative splicing of three variable exons 4(A), 5(B) and 6(C), encoding sequences at the N-terminal extracellular domain of the molecule. T200 IUPHARobj:1852 PIRSF:PIRSF002004 L-CA PTPRC leukocyte common antigen ly-5 lymphocyte antigen 5 protein CD45 PR:000001006 Category=gene. Requested by=CL. receptor-type tyrosine-protein phosphatase C An integrin alpha with A domain that is a translation product of the human ITGA2 gene or a 1:1 ortholog thereof. IUPHARobj:2440 CD49 antigen-like family member B CD49b GPIa ITGA2 VLA-2 subunit alpha collagen receptor platelet membrane glycoprotein Ia protein CD49B PR:000001008 Category=gene. Requested by=CL. integrin alpha-2 An integrin alpha with A domain that is a translation product of the human ITGAM gene or a 1:1 ortholog thereof. They constitute subunits of the integrin alpha-M/beta-2 receptor. This receptor is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is also a receptor for fibrinogen, factor X and ICAM1. IUPHARobj:2452 CD11 antigen-like family member B CD11b CR-3 alpha chain ITGAM cell surface glycoprotein MAC-1 subunit alpha leukocyte adhesion receptor MO1 neutrophil adherence receptor protein CD11B CR3A PR:000001012 Category=gene. Requested by=CL. integrin alpha-M An integrin alpha with A domain that is a translation product of the human ITGAX gene or a 1:1 ortholog thereof. Integrin alpha-X complexed with beta-2 is a receptor for fibrinogen. It recognizes the sequence GPR in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis. IUPHARobj:2454 CD11 antigen-like family member C CD11c ITGAX Leu M5 leukocyte adhesion glycoprotein p150,95 alpha chain leukocyte adhesion receptor p150,95 protein CD11C PR:000001013 Category=gene. Requested by=CL. integrin alpha-X A receptor-type tyrosine-protein phosphatase C isoform CD45R that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P08575-8 or a 1:1 ortholog thereof. CD45RA PTPRC/iso:CD45RA protein PR:000001015 Category=sequence. Requested by=CL. Note: This isoform includes the region encoded by the variable exon 4(A), and lacks the region encoded by exons 5(B) and 6(C). receptor-type tyrosine-protein phosphatase C isoform CD45RA A protein that has a core domain composition consisting of an extracellular N-terminal domain that adopts an immunoglobulin fold, a transmembrane domain, and an intracellular C-terminal domain with a single copy of the Immunoreceptor tyrosine-based activation motif (Pfam:PF02189) (ITAM). It constitutes the invariant subunit of the T cell antigen receptor (TCR). TCR is a surface receptor on T cells responsible for recognizing MHC-restricted antigens and initiating the cellular immune response. PIRSF:PIRSF001993 CD3 subunit with Ig-like domain protein PR:000001018 Category=family. CD3 subunit with immunoglobulin domain A CD3 subunit with immunoglobulin domain that is a translation product of the human CD3E gene or a 1:1 ortholog thereof. IUPHARobj:2742 CD3E CD3e T-cell surface antigen T3/Leu-4 epsilon chain protein T3E PR:000001020 Category=gene. Requested by=CL. CD3 epsilon A protein with a domain composition consisting of a large extracellular domain, including five Ig-like C2-type domains followed by two copies of the Fibronectin type-III domain (Pfam:PF00041), a single-pass transmembrane domain and a short cytoplasmic C-terminal domain. PIRSF:PIRSF002507 protein PR:000001022 Category=family. neural cell adhesion molecule A neural cell adhesion molecule that is involved in neuronal development, synaptic plasticity, and regeneration. PIRSF:PIRSF501037 protein PR:000001023 Category=family. neural cell adhesion molecule NCAM A neural cell adhesion molecule NCAM that is a translation product of the human NCAM1 gene or a 1:1 ortholog thereof. IUPHARobj:2769 CD56 N-CAM-1 NCAM-1 NCAM1 protein NCAM PR:000001024 Category=gene. Requested by=CL. neural cell adhesion molecule 1 A protein that is a type I transmembrane receptor with an N-terminal cysteine-rich domain, a single Fibronectin type II (FNII) domain (Pfam:PF00040) and eight to ten copies of the Lectin C-type domain (Pfam:PF00059) (CTLDs). The presence of multiple copies of the CTLD domain is a hallmark of this class. PIRSF:PIRSF002427 protein PR:000001025 Category=family. C-type lectin with multiple lectin domains A protein that is a translation product of the human CD2 gene or a 1:1 ortholog thereof. IUPHARobj:2600 PIRSF:PIRSF001984 CD2 LFA-2 LFA-3 receptor T-cell surface antigen CD2 T-cell surface antigen T11/Leu-5 T-cell surface glycoprotein CD2 erythrocyte receptor ly-37 lymphocyte antigen 37 rosette receptor protein SRBC PR:000001083 Category=gene. Requested by=CL. CD2 molecule A protein that is a translation product of the human CD8A gene or a 1:1 ortholog thereof. CD8 is a transmembrane that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. CD8A CD8a T-cell surface glycoprotein Lyt-2 T-lymphocyte differentiation antigen T8/Leu-2 protein Lyt-2 Lyt2 MAL PR:000001084 Category=gene. Requested by=CL. T-cell surface glycoprotein CD8 alpha chain A protein that is a translation product of the human CD8B gene or a 1:1 ortholog thereof. CD8 is a transmembrane receptor that is a co-receptor for MHC class-I antigen/T-cell receptor interaction. The most common form of CD8 is composed of a CD8 alpha and a CD8 beta chain. PIRSF:PIRSF002020 CD8B T-cell membrane glycoprotein Ly-3 T-cell surface glycoprotein Lyt-3 lymphocyte antigen 3 protein CD8B1 Ly-3 Lyt-3 Lyt3 PR:000001085 Category=gene. T-cell surface glycoprotein CD8 beta chain A G-protein coupled receptor with a 7 transmembrane (secretin family) domain (Pfam:PF00002) preceded by an amino-terminal region containing one or more functional domains with adhesion-like motifs. IUPHAR:GPCRListForward?class=adhesion IUPHARfam:17 adhesion class GPCR fam:adhesion subfamily B2 G-protein coupled receptor protein secretin receptor-like G-protein coupled receptor PR:000001087 Category=family. Classification based on GRAFS system. [PMID:12761335] adhesion G-protein coupled receptor A G-protein coupled receptor that contains the 7 transmembrane receptor (rhodopsin family) domain (Pfam:PF00001), which includes 7 transmembrane helices (TMI-TM7) with 3 intracellular loops (IL1-IL3) and 3 extracellular loops (EL1-EL3) between the helices. The amino-terminal region is extracellular and the carboxyl-terminal region is intracellular. Rhodopsin-like G-protein coupled receptors (GPCRs) are unique among the several classes of GPCRs in that most have a very short amino-terminal segment and several characteristic sequence motifs, particularly NSxxNPxxY in TM7 and D/E-R-Y/F between TM3 and loop IL2. Most bind their ligands within a cavity between the TM regions. IUPHAR:GPCRListForward?class=A PIRSF:PIRSF800006 class 1 G-protein coupled receptor class A G-protein coupled receptor fam:rhodopsin protein PR:000001094 Category=family. Classification based on GRAFS system. [PMID:12761335] rhodopsin-like G-protein coupled receptor A rhodopsin-like G-protein coupled receptor that is a translation product of the human OPN1LW, OPN1MW, OPN1SW, RHO, OPN3, OPN4, or OPN5 genes, 1:1 orthologs thereof, or a semi-ortholog thereof in Metazoa. The active form binds a vitamin A-based retinaldehyde chromophore through a Schiff base linkage to a Lys residue in the seventh transmembrane alpha helix. IUPHARfam:975 PIRSF:PIRSF038544 opsin receptor type II opsin protein PR:000001119 Category=family. animal opsin A rhodopsin-like G-protein coupled receptor that in active form binds to one or more chemokines. IUPHARfam:14 PIRSF:PIRSF038545 protein PR:000001128 Category=family. Note: Only those that have been unequivocally shown to activate a G-protein coupled signaling pathway appear on the official IUPHAR list. chemokine receptor A chemokine receptor that is a translation product of the human CCR1 or CCR3 genes, the mouse CCR1L1 gene, 1:1 orthologs thereof, or a semi-ortholog thereof. PIRSF:PIRSF501024 protein PR:000001197 Category=family. chemokine receptor CCR1/3/1L A chemokine receptor that is a translation product of the human CCR2 gene or a 1:1 ortholog thereof. The preferred ligands include CCL2, CCL7, CCL8, CCL13. IUPHARobj:59 C-C CKR-2 CC-CKR-2 CCR-2 CCR2 CD192 JE/FIC receptor MCP-1 receptor MCP-1-R chemokine receptor CCR2 monocyte chemoattractant protein 1 receptor protein CMKBR2 PR:000001199 Category=gene. Requested by=CL. C-C chemokine receptor type 2 An endothelin receptor that is a translation product of the human EDNRB gene or a 1:1 ortholog thereof. The active form binds endothelin 1 (ET-1), ET-2, and ET-3 with equal affinity. ET-B IUPHARobj:220 EDNRB ET-BR endothelin B receptor endothelin receptor B endothelin receptor non-selective type protein ETRB PR:000001222 Category=gene. endothelin receptor type B An animal opsin that is a translation product of the human OPN1MW, OPN1MW2, or OPN1MW3 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. IUPHARobj:2962 GOP M opsin OPN1MW green cone photoreceptor pigment green-sensitive opsin medium wavelength-sensitive cone opsin protein Gcp OPN1MW2 Opn1mw PR:000001224 Category=gene. Note: The human OPN1MW, OPN1MW2, and OPN1MW3 genes encode identical proteins. medium-wave-sensitive opsin A chemokine receptor whose active form binds interleukin-8 with high affinity. PIRSF:PIRSF501022 protein PR:000001226 Category=family. high affinity interleukin-8 receptor A chemokine receptor CCR1/3/1L that is a translation product of the human CCR3 gene or a 1:1 ortholog thereof. IUPHARobj:60 C-C CKR-3 CC-CKR-3 CCR-3 CCR3 CD193 CKR3 MIP-1 alpha RL2 chemokine receptor CCR3 eosinophil eotaxin receptor macrophage inflammatory protein 1-alpha receptor-like 2 protein CMKBR3 Cmkbr1l2 PR:000001255 Category=gene. Requested by=CL. C-C chemokine receptor type 3 A high affinity interleukin-8 receptor that is a translation product of the human CXCR1 gene or a 1:1 ortholog thereof. IUPHARobj:68 CD181 CDw128a CXC-R1 CXCR-1 CXCR1 IL-8 receptor type 1 IL-8R A high affinity interleukin-8 receptor A protein CMKAR1 IL8RA PR:000001256 Category=gene. Requested by=CL. C-X-C chemokine receptor type 1 A high affinity interleukin-8 receptor that is a translation product of the human CXCR2 gene or a 1:1 ortholog thereof. IUPHARobj:69 CD182 CDw128b CXC-R2 CXCR-2 CXCR2 GRO/MGSA receptor IL-8 receptor type 2 IL-8R B high affinity interleukin-8 receptor B protein Cmkar2 Gpcr16 IL8RB PR:000001257 Category=gene. Requested by=CL. C-X-C chemokine receptor type 2 A protein that contains the ADP-ribosyl cyclase domain (Pfam:PF02267). PIRSF:PIRSF005736 protein PR:000001281 Category=family. ADP-ribosyl cyclase A protein that is a translation product of the human MS4A1 gene or a 1:1 ortholog thereof. IUPHARobj:2628 PIRSF:PIRSF001995 B-cell differentiation antigen Ly-44 B-cell surface antigen CD20 B-lymphocyte antigen CD20 B-lymphocyte surface antigen B1 Bp35 MS4A1 leukocyte surface antigen Leu-16 lymphocyte antigen 44 protein CD20 Ly-44 Ms4a2 PR:000001289 Category=gene. Requested by=CL. membrane-spanning 4-domains subfamily A member 1 A protein that is a translation product of the human CD209 gene or a 1:1 ortholog thereof. IUPHARobj:2930 C-type lectin domain family 4 member L CD209 CD209 antigen DC-SIGN1 dendritic cell-specific ICAM-3-grabbing non-integrin 1 protein CLEC4L DC-SIGN PR:000001300 Category=gene. This gene and CLEC4M are products of a recent gene duplication in the primate lineage. Independent duplications of an ancestral gene have given rise to several orthologs in rodents, including CD209A. Requested by=CL. CD209 molecule A protein that is a translation product of the human CD44 gene or a 1:1 ortholog thereof. CD44 CD44 antigen CDw44 ECMR-III GP90 lymphocyte homing/adhesion receptor HUTCH-I PGP-1 epican extracellular matrix receptor III heparan sulfate proteoglycan hermes antigen hyaluronate receptor ly-24 lymphocyte antigen 24 phagocytic glycoprotein 1 phagocytic glycoprotein I protein LHR MDU2 MDU3 MIC4 PGP-I PR:000001307 Category=gene. Requested by=CL. CD44 molecule A protein that is a stand alone version of the Glycosyltransferase family 10 (fucosyltransferase) (Pfam:PF00852) domain. Proteins in this class may catalyze alpha-1,3 glycosidic linkages. PIRSF:PIRSF005726 protein PR:000001320 Category=family. alpha-(1,3)-fucosyltransferase A protein that has a core domain structure of signal sequence, propeptide, five Cadherin domains (Pfam:PF00028), a transmembrane region, and a Cadherin cytoplasmic region (Pfam:PF01049). Cadherins function as adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in solid tissues. PIRSF:PIRSF002504 protein PR:000001327 Category=family. cadherin A protein that is a translation product of the human CEACAM8 gene or a 1:1 ortholog thereof. CD66b CD67 antigen CEACAM8 carcinoembryonic antigen CGM6 non-specific cross-reacting antigen NCA-95 protein CGM6 PR:000001332 Category=gene. Requested by=CL. carcinoembryonic antigen-related cell adhesion molecule 8 A protein that is a translation product of the human ENPP3 gene or a 1:1 ortholog thereof. CD203c E-NPP 3 ENPP3 PD-Ibeta ectonucleotide pyrophosphatase/phosphodiesterase 3 phosphodiesterase I beta phosphodiesterase I/nucleotide pyrophosphatase 3 protein PDNP3 PR:000001344 Category=gene. Requested by=CL. ectonucleotide pyrophosphatase/phosphodiesterase family member 3 A protein with a core domain architecture consisting of an extracellular domain containing two copies of the Immunoglobulin domain (Pfam:PF00047), followed by a single-pass transmembrane region and a small intracellular domain. The active protein is a low affinity receptor for immunoglobulin gamma chain Fc region. Human II-a, II-b, and II-c represent a recent gene expansion and are equally related to mouse II, III, and IV. Human III-A and III-B are closely related and closer to mouse IV than to mouse III. PIRSF:PIRSF001980 protein PR:000001355 Category=family. immunoglobulin gamma Fc receptor II/III/IV A protein that is a translation product of the human IL18 gene or a 1:1 ortholog thereof. PIRSF:PIRSF015162 IFN-gamma-inducing factor IL-1 gamma IL-18 IL18 iboctadekin interferon gamma-inducing factor interleukin-1 gamma protein IGIF IL1F4 PR:000001376 Category=gene. interleukin-18 A protein that is a translation product of the human IL2RA gene or a 1:1 ortholog thereof. p55 IUPHARobj:1695 PIRSF:PIRSF001954 CD25 IL-2 receptor subunit alpha IL-2-RA IL-2R subunit alpha IL2-RA IL2RA TAC antigen protein Il2r PR:000001380 Category=gene. Requested by=CL. interleukin-2 receptor subunit alpha A protein that is a translation product of the human IL2RB gene or a 1:1 ortholog thereof. p75 IUPHARobj:1696 CD122 IL-2 receptor subunit beta IL-2R subunit beta IL-2RB IL2RB high affinity IL-2 receptor subunit beta p70-75 protein IL15RB PR:000001381 Category=gene. Requested by=CL. interleukin-2 receptor subunit beta A protein that is a translation product of the human CXCL8 gene or a 1:1 ortholog thereof. PIRSF:PIRSF500564 C-X-C motif chemokine 8 CXCL8 IL-8 MDNCF MONAP NAP-1 T-cell chemotactic factor emoctakin granulocyte chemotactic protein 1 monocyte-derived neutrophil chemotactic factor monocyte-derived neutrophil-activating peptide neutrophil-activating protein 1 protein 3-10C protein GCP-1 IL8 PR:000001395 Category=gene. interleukin-8 A protein with four transmembrane domains, small intracellular amino- and carboxyl-terminal regions, and two extracellular loops, a small one (EC1) and a larger one (EC2) of about 100 residues. The EC2 loop contains at least 4 cysteine residues, including a highly conserved 'CCG' motif. PIRSF:PIRSF002419 protein PR:000001403 Category=family. tetraspanin An ADP-ribosyl cyclase that is a translation product of the human CD38 gene or a 1:1 ortholog thereof. IUPHARobj:2766 2'-phospho-ADP-ribosyl cyclase 2'-phospho-ADP-ribosyl cyclase/2'-phospho-cyclic-ADP-ribose transferase 2'-phospho-cyclic-ADP-ribose transferase ADP-ribosyl cyclase 1 ADPRC 1 CD38 I-19 NIM-R5 antigen T10 cADPr hydrolase 1 cyclic ADP-ribose hydrolase 1 protein PR:000001408 Category=gene. Requested by=CL. ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 A cadherin that is a translation product of the human CDH5 gene or a 1:1 ortholog thereof. 7B4 antigen CD144 CDH5 VE-cadherin vascular endothelial cadherin protein PR:000001444 Category=gene. Requested by=CL. cadherin-5 An alpha-(1,3)-fucosyltransferase that is a translation product of the human FUT4 gene or a 1:1 ortholog thereof. galactoside 3-L-fucosyltransferase CD15 ELAM-1 ligand fucosyltransferase FUT4 Fuc-TIV FucT-IV alpha-(1,3)-fucosyltransferase FUT4 fucosyltransferase 4 fucosyltransferase FUT4 fucosyltransferase IV protein ELFT FCT3A PR:000001456 Category=gene. Requested by=CL. alpha-(1,3)-fucosyltransferase 4 A class 2 cytokine, IL-10 type that is a translation product of the human IL10 gene or a 1:1 ortholog thereof. Active interleukin-10 inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T cells. Structurally, IL-10 is a protein of about 160 amino acids that contains four conserved cysteines involved in disulfide bonds. CSIF IL-10 IL10 cytokine synthesis inhibitory factor protein PR:000001471 Category=gene. interleukin-10 An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr2 gene or a 1:1 ortholog thereof. CD32 Fc gamma receptor IIB Fc-gamma RII Fc-gamma-RIIB FcRII Fcgr2 IgG Fc receptor II beta ly-17 lymphocyte antigen 17 protein Fcgr2b PR:000001479 Category=gene. Requested by=CL. low affinity immunoglobulin gamma Fc region receptor II An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the mouse Fcgr3 gene or a 1:1 ortholog thereof. CD16 Fc-gamma RIII FcRIII Fcgr3 IgG Fc receptor III protein PR:000001483 Category=gene. Requested by=CL. low affinity immunoglobulin gamma Fc region receptor III A protein that has a core domain composition consisting of a Rel homology domain (RHD) (Pfam:PF00554), an IPT/TIG domain (Pfam:PF01833), six copies of the Ankyrin repeat (Pfam:PF00023), a Death domain (Pfam:PF00531) and a C-terminal PEST region. PIRSF:PIRSF036310 protein transcription factor NF-kappa-B PR:000001753 Category=family. transcription factor NF-kappa-B subunit A protein with core architecture consisting of one Prominin (Pfam:PF05478) domain. The prominins are an emerging family of proteins that, among the multispan membrane proteins, display a novel topology. Mouse and human prominin and prominin-like 1 are predicted to contain five membrane spanning domains, with an N-terminal domain exposed to the extracellular space followed by four, alternating small cytoplasmic and large extracellular, loops and a cytoplasmic C-terminal domain. PANTHER:PTHR22730 PIRSF:PIRSF017831 protein PR:000001785 Category=family. prominin A prominin that is a translation product of the human PROM1 gene or a 1:1 ortholog thereof. CD133 PROM1 antigen AC133 antigen AC133 homolog prominin-like protein 1 protein MSTP061 PROML1 Prom PR:000001786 Category=gene. Requested by=CL. prominin-1 A protein that is a translation product of the human CD59 gene, a 1:1 ortholog thereof, or pro-orthologs thereof. PIRSF:PIRSF038782 CD59-like protein PR:000001809 Category=gene. Requested by=CL. Pro-orthology refers to, in this case, after-speciation gene duplication in the non-human species (aka 1:many orthology). This gene is present as a single copy in human and has undergone a lineage-specific duplication in mouse. CD59 antigen has a core architecture consisting of one UPAR/Ly-6 domain (Pfam:PF00021), a small domain of about 70 amino acids and containing 5 conserved disulfide bonds. It is both N- and O-glycosylated and is a GPI-anchored protein that releases soluble forms in some tissues. CD59-like glycoprotein A protein with core architecture consisting of asignal sequence, 5 Ig-like domains, followed by a transmembrane sequence, followed by a Protein tyrosine kinase domain (Pfam:PF07714). However, only 1-3 of the Ig domains are detected by the Pfam HMMs in most of the sequences. Pfam:PF00047 is most common, but other members of the Ig domain clan, Pfam:PF07679 and Pfam:PF07686 can be identified instead. The fourth Ig domain lacks the disulfide-bonded cysteines. PIRSF:PIRSF000615 protein PR:000001810 Category=family. CSF-1/PDGF receptor-type tyrosine-protein kinase An adhesion G-protein coupled receptor that is a translation product of the human ADGRE1 gene or a 1:1 ortholog thereof. IUPHARobj:182 PIRSF:PIRSF038685 ADGRE1 EGF-like module receptor 1 EGF-like module-containing mucin-like hormone receptor-like 1 EMR1 hormone receptor cell surface glycoprotein F4/80 protein EMR1 Gpf480 TM7LN3 PR:000001813 Category=gene. Requested by=CL. adhesion G protein-coupled receptor E1 A protein that is a translation product of the human CD7 gene or a 1:1 ortholog thereof. PIRSF:PIRSF038791 CD7 GP40 T-cell antigen CD7 T-cell leukemia antigen T-cell surface antigen Leu-9 TP41 protein PR:000001836 Category=gene. Requested by=CL. CD7 molecule A protein with core architecture consisting of a signal sequence, an extracellular region with Class I Histocompatibility antigen, domains alpha 1 and alpha two (Pfam:PF00129) and an Immunoglobulin C1-set domain (Pfam:PF07654), a single-pass transmembrane region, and a very short cytoplasmic region. Forms a heterodimer with beta-2 microglobulin. PIRSF:PIRSF038798 CD1 protein PR:000001838 Category=family. T-cell surface glycoprotein CD1 A protein that is a translation product of the human CD5 gene or a 1:1 ortholog thereof. CD5 Lyt-1 ly-1 lymphocyte antigen 1 lymphocyte antigen T1/Leu-1 protein LEU1 PR:000001839 Category=gene. Requested by=CL. T-cell surface glycoprotein CD5 A protein that is a translation product of the human THY1 gene or a 1:1 ortholog thereof. PIRSF:PIRSF038777 CD90 CDw90 THY1 Thy-1 antigen protein Thy-1 PR:000001843 Category=gene. Requested by=CL. Thy-1 membrane glycoprotein A protein that is a translation product of the human ARG1 gene or a 1:1 ortholog thereof. IUPHARobj:1244 ARG1 liver-type arginase type I arginase protein PR:000001844 Category=gene. Requested by=CL. arginase-1 A cathepsin-like protease that is a translation product of the human CTSK gene or a 1:1 ortholog thereof. IUPHARobj:2350 CTSK cathepsin O2 protein CTSO CTSO2 cathepsin O cathepsin X PR:000001850 Category=gene. Requested by=CL. cathepsin K A protein with core architecture consisting of a large extracellular region containing one Integrin, beta chain domain (Pfam:PF00362), up to four EGF-like domains (Pfam:PF07974), and an Integrin beta tail domain (Pfam:PF07965), followed by a single-pass transmembrane region and a small cytoplasmic region often containing an Integrin beta cytoplasmic domain (Pfam:PF08725). PIRSF:PIRSF002512 protein PR:000001861 Category=family. integrin beta A protein that is a translation product of the human IL3RA gene or a 1:1 ortholog thereof. IUPHARobj:1705 CD123 IL-3 receptor subunit alpha IL-3R subunit alpha IL-3R-alpha IL-3RA IL3RA interleukin-3 receptor class II alpha chain protein IL3R Sut-1 PR:000001865 Category=gene. Requested by=CL. interleukin-3 receptor class 2 alpha chain A protein that is a translation product of the human IL5RA gene or a 1:1 ortholog thereof. IUPHARobj:1706 PIRSF:PIRSF018419 CD125 CDw125 IL-5 receptor subunit alpha IL-5R subunit alpha IL-5R-alpha IL-5RA IL5RA protein IL5R PR:000001867 Category=gene. Requested by=CL. interleukin-5 receptor subunit alpha A protein that is a translation product of the human IL6ST gene or a 1:1 ortholog thereof. IUPHARobj:2317 CD130 CDw130 IL-6 receptor subunit beta IL-6R subunit beta IL-6R-beta IL-6RB IL6ST gp130 interleukin-6 signal transducer membrane glycoprotein 130 oncostatin-M receptor subunit alpha protein PR:000001868 Category=gene. interleukin-6 receptor subunit beta A protein that is a translation product of the human IL7R gene or a 1:1 ortholog thereof. IUPHARobj:1698 PIRSF:PIRSF001960 CD127 CDw127 IL-7 receptor subunit alpha IL-7R subunit alpha IL-7R-alpha IL-7RA IL7R protein PR:000001869 Category=gene. Requested by=CL. interleukin-7 receptor subunit alpha A protein that is a translation product of the KLRB1 gene or its closely related paralogs (KLRB1A-F). There are lineage-specific expansions in mouse and rat. PIRSF:PIRSF038804 protein PR:000001874 Category=family. Requested by=CL. KLRB1-like protein A protein that is a translation product of the human SPN gene or a 1:1 ortholog thereof. PIRSF:PIRSF001994 B-cell differentiation antigen LP-3 GALGP SPN galactoglycoprotein leukocyte sialoglycoprotein ly-48 lymphocyte antigen 48 sialophorin protein CD43 PR:000001879 Category=gene. Requested by=CL. leukosialin A protein with core architecture consisting of a Lysosome-associated membrane glycoprotein (Pfam:PF01299) domain. It is a single-pass type I membrane protein that shuttles between lysosomes, endosomes, and the plasma membrane. PIRSF:PIRSF002462 protein PR:000001883 Category=family. lysosome-associated membrane protein A protein that is a translation product of the human CD14 gene or a 1:1 ortholog thereof. PIRSF:PIRSF002017 CD14 monocyte differentiation antigen CD14 myeloid cell-specific leucine-rich glycoprotein protein PR:000001889 Category=gene. Requested by=CL. CD14 molecule A protein that is a translation product of the human CD33 gene or a 1:1 ortholog thereof. IUPHARobj:2601 CD33 gp67 myeloid cell surface antigen CD33 sialic acid-binding Ig-like lectin 3 siglec-3 protein SIGLEC3 PR:000001892 Category=gene. Requested by=CL. CD33 molecule A protein that is a translation product of the human MME gene or a 1:1 ortholog thereof. IUPHARobj:1611 PIRSF:PIRSF501074 CALLA CD10 MME NEP SFE atriopeptidase common acute lymphocytic leukemia antigen enkephalinase neutral endopeptidase neutral endopeptidase 24.11 skin fibroblast elastase protein EPN PR:000001898 Category=gene. Requested by=CL. neprilysin A protein that is a translation product of the human PAX5 gene or a 1:1 ortholog thereof. B-cell-specific transcription factor BSAP PAX5 protein Pax-5 PR:000001903 Category=gene. Requested by=CL. paired box protein PAX-5 A protein that is a translation product of the human CD36 gene or a 1:1 ortholog thereof. CD36 FAT GPIIIB GPIV PAS IV PAS-4 fatty acid translocase glycoprotein IIIb leukocyte differentiation antigen CD36 platelet collagen receptor platelet glycoprotein IV thrombospondin receptor protein GP3B GP4 PR:000001905 Category=gene. Requested by=CL. platelet glycoprotein 4 A protein that is a translation product of the human CD24 gene or a 1:1 ortholog thereof. CD24 HSA M1/69-J11D heat stable antigen R13-Ag X62 heat stable antigen ly-52 lymphocyte antigen 52 nectadrin small cell lung carcinoma cluster 4 antigen protein CD24A PR:000001932 Category=gene. The mouse ortholog is Cd24a. Mouse protein Cd24b likely also orthologous. Currently it is not in UniProt. Requested by=CL. signal transducer CD24 A protein that is a translation product of the human SDC1 gene or a 1:1 ortholog thereof. PIRSF:PIRSF015854 CD138 SDC1 SYND1 protein SDC Synd-1 PR:000001935 Category=gene. Requested by=CL. syndecan-1 A protein that is a translation product of the human ACP5 gene or a 1:1 ortholog thereof. PIRSF:PIRSF000898 ACP5 TR-AP TrATPase tartrate-resistant acid ATPase type 5 acid phosphatase protein T5ap Trap PR:000001937 Category=gene. Requested by=CL. tartrate-resistant acid phosphatase type 5 A protein that is a translation product of the human SPI1 gene or a 1:1 ortholog thereof. 31 kDa-transforming protein SFFV proviral integration 1 protein SPI1 protein Sfpi-1 Sfpi1 PR:000001944 Category=gene. Requested by=CL. transcription factor PU.1 A protein that is a translation product of the human TFRC gene or a 1:1 ortholog thereof. p90 CD71 T9 TFRC TfR TfR1 protein TR Trfr PR:000001945 Category=gene. Requested by=CL. transferrin receptor protein 1 A protein that is a translation product of the human CD40LG gene or a 1:1 ortholog thereof. TRAP PIRSF:PIRSF016527 CD154 CD40-L CD40LG T-cell antigen Gp39 TNF-related activation protein protein CD40L TNFSF5 PR:000001950 Category=gene. Requested by=CL. tumor necrosis factor ligand superfamily member 5 A protein that is a translation product of the human TNFRSF11A gene or a 1:1 ortholog thereof. IUPHARobj:1881 PIRSF:PIRSF038806 CD265 ODFR TNFRSF11A osteoclast differentiation factor receptor receptor activator of NF-KB protein RANK PR:000001954 Category=gene. Requested by=CL. tumor necrosis factor receptor superfamily member 11A A protein that is a translation product of the human CD27 gene or a 1:1 ortholog thereof. IUPHARobj:1876 PIRSF:PIRSF001966 CD27 CD27L receptor T-cell activation antigen CD27 tumor necrosis factor receptor superfamily member 7 protein T14 TNFRSF7 PR:000001963 Category=gene. Requested by=CL. CD27 molecule A protein that is a translation product of the human PLAUR gene or a 1:1 ortholog thereof. PIRSF:PIRSF002022 CD87 PLAUR U-PAR monocyte activation antigen Mo3 uPAR protein MO3 UPAR PR:000001969 Category=gene. Requested by=CL. urokinase plasminogen activator surface receptor A protein with core architecture consisting of a signal sequence, followed by 7 Ig-like domains (Pfam:PF00047, Pfam:PF07679, or Pfam:PF07686), a transmembrane region, and a cytoplasmic Protein tyrosine kinase domain. PIRSF:PIRSF038502 protein PR:000001971 Category=family. vascular endothelial growth factor receptor A T-cell surface glycoprotein CD1 that is a translation product of the human CD1A gene or a 1:1 ortholog thereof. CD1A CD1a T-cell surface antigen T6/Leu-6 Ta1 thymocyte antigen protein PR:000002025 Category=gene. Requested by=CL. T-cell surface glycoprotein CD1a A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human CSF1R gene or a 1:1 ortholog thereof. IUPHARobj:1806 PIRSF:PIRSF500947 CD115 CSF-1 receptor CSF-1-R CSF-1R CSF1R M-CSF-R proto-oncogene c-Fms protein Csfmr FMS PR:000002062 Category=gene. Requested by=CL. macrophage colony-stimulating factor 1 receptor A lysosome-associated membrane protein that is a translation product of the human CD68 gene or a 1:1 ortholog thereof. CD68 protein gp110 PR:000002064 Category=gene. Requested by=CL. macrosialin A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human KIT gene or a 1:1 ortholog thereof. IUPHARobj:1805 PIRSF:PIRSF500951 CD117 KIT proto-oncogene c-Kit tyrosine-protein kinase Kit protein SCFR Sl PR:000002065 Category=gene. Requested by=CL. mast/stem cell growth factor receptor A vascular endothelial growth factor receptor that is a translation product of the human KDR gene or a 1:1 ortholog thereof. IUPHARobj:1813 CD309 FLK-1 KDR VEGFR-2 fetal liver kinase 1 kinase NYK kinase insert domain receptor protein-tyrosine kinase receptor flk-1 protein FLK1 VEGFR2 PR:000002112 Category=gene. Requested by=CL. vascular endothelial growth factor receptor 2 A C-type lectin with multiple lectin domains that is a translation product of the human MRC1 gene or a 1:1 ortholog thereof. C-type lectin domain family 13 member D CD206 MMR MRC1 protein C-type lectin domain family 13 member D-like CLEC13D CLEC13DL MRC1L1 macrophage mannose receptor 1-like protein 1 PR:000002972 Category=gene. Requested by=CL. macrophage mannose receptor 1 A protein that is the translation product of any of the LY6 genes (LY6A-LY6I). PIRSF:PIRSF002021 protein PR:000002976 Category=family. Ly-6-like protein An Ly-6-like protein that is a translation product of the mouse Ly6g gene or a 1:1 ortholog thereof. Ly-6G Ly-6G.1 Ly6g protein PR:000002978 Category=gene. Requested by=CL. lymphocyte antigen 6G An Ly-6-like protein that is a translation product of the mouse Ly6a gene or a 1:1 ortholog thereof. Ly-6A.2/Ly-6E.1 Ly6a T-cell-activating protein stem cell antigen 1 protein Ly6 SCA-1 TAP PR:000002979 Category=gene. Requested by=CL. lymphocyte antigen 6A-2/6E-1 An Ly-6-like protein that is a translation product of the mouse Ly6c2 gene or a 1:1 ortholog thereof. Ly-6C2 Ly6c2 protein Ly6c PR:000002980 Category=gene. Requested by=CL. lymphocyte antigen 6C2 A protein that is a translation product of the Ly76 gene in mouse. mLy76 ter-119 ter119 protein PR:000002981 Category=organism-gene. Requested by=CL. lymphocyte antigen 76 (mouse) PIRSF:PIRSF036495 protein PR:000003171 Category=family. IGFBP-related protein A protein that is a component of collagen. Collagens are trimeric molecules in which each chain comprises a repeating Gly-X-Y triplet, in which X and Y can be any residue but are usually proline and hydroxyproline, respectively. This results in a left-handed helix that combines with other two to form a triple-helical structure. protein PR:000003262 Category=family. collagen alpha chain A protein that is a translation product of the human RAG1 gene or a 1:1 ortholog thereof. RAG-1 RAG1 RING finger protein 74 protein RNF74 PR:000003457 Category=gene. Requested by=CL. V(D)J recombination-activating protein 1 A protein that is a translation product of the human RAG2 gene or a 1:1 ortholog thereof. RAG-2 RAG2 protein PR:000003460 Category=gene. Requested by=CL. V(D)J recombination-activating protein 2 A protein that is a translation product of the human EGR2 gene or a 1:1 ortholog thereof. AT591 E3 SUMO-protein transferase ERG2 EGR-2 EGR2 zinc finger protein Krox-20 protein KROX20 Krox-20 Zfp-25 PR:000003469 Category=gene. Requested by=CL. early growth response protein 2 A protein that is a translation product of the human ALPL gene or a 1:1 ortholog thereof. ALPL AP-TNAP TNSALP alkaline phosphatase 2 alkaline phosphatase liver/bone/kidney isozyme phosphoamidase phosphocreatine phosphatase Akp-2 Akp2 PR:000003968 Category=gene. alkaline phosphatase, tissue-nonspecific isozyme A protein that is a translation product of the human AMBP gene or a 1:1 ortholog thereof. AMBP protein HCP ITIL PR:000003986 Category=gene. protein AMBP A protein that is a translation product of the human B2M gene or a 1:1 ortholog thereof. B2M protein CDABP0092 HDCMA22P PR:000004580 Category=gene. beta-2-microglobulin A protein that is a translation product of the human B4GALNT4 gene or a 1:1 ortholog thereof. B4GALNT4 NGalNAc-T1 beta-1,4-N-acetylgalactosaminyltransferase IV beta4GalNAc-T4 beta4GalNAcT4 protein PR:000004604 Category=gene. N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 A tetraspanin that is a translation product of the human CD9 gene or a 1:1 ortholog thereof. p24 5H9 antigen CD9 CD9 antigen MRP-1 cell growth-inhibiting gene 2 protein leukocyte antigen MIC3 motility-related protein tetraspanin-29 tspan-29 protein GIG2 MIC3 TSPAN29 PR:000005178 Category=gene. Requested by=CL. CD9 molecule A protein that is a translation product of the human CEBPA gene or a 1:1 ortholog thereof. C/EBP alpha CEBPA protein CEBP PR:000005307 Category=gene. Requested by=CL. CCAAT/enhancer-binding protein alpha A protein that is a translation product of the human CST3 gene or a 1:1 ortholog thereof. CST3 cystatin-3 gamma-trace neuroendocrine basic polypeptide post-gamma-globulin protein PR:000005965 Category=gene. cystatin-C An IGFBP-related protein that is a translation product of the human CCN1 gene or a 1:1 ortholog thereof. 3CH61 CCN1 IBP-10 IGF-binding protein 10 IGFBP-10 cellular communication network factor 1 cysteine-rich angiogenic inducer 61 insulin-like growth factor-binding protein 10 protein CYR61 protein GIG1 protein CYR61 GIG1 IGFBP10 PR:000006151 Category=gene. CCN family member 1 A protein that is a translation product of the mouse Cd200r3 gene or a 1:1 ortholog thereof. CD200 cell surface glycoprotein receptor-like 3 CD200 cell surface glycoprotein receptor-like b CD200 receptor-like 3 CD200RLb Cd200r3 cell surface glycoprotein OX2 receptor 3 protein PR:000006169 Category=gene. Requested by=CL. cell surface glycoprotein CD200 receptor 3 A protein that is a translation product of the human DNTT gene or a 1:1 ortholog thereof. DNTT terminal addition enzyme terminal deoxynucleotidyltransferase terminal transferase protein TDT PR:000006611 Category=gene. Requested by=CL. DNA nucleotidylexotransferase A fatty acid-binding protein that is a translation product of the human FABP1 gene or a 1:1 ortholog thereof. IUPHARobj:2531 14 kDa selenium-binding protein FABP1 L-FABP fatty acid-binding protein 1 liver-type fatty acid-binding protein protein FABPL PR:000007309 Category=gene. fatty acid-binding protein, liver An immunoglobulin gamma Fc receptor II/III/IV that is a translation product of the human FCER1A gene or a 1:1 ortholog thereof. IUPHARobj:2933 FCER1A Fc-epsilon RI-alpha IgE Fc receptor subunit alpha protein FCE1A FcERI PR:000007431 Category=gene. Requested by=CL. high affinity immunoglobulin epsilon receptor subunit alpha A protein that is a translation product of the human FOS gene or a 1:1 ortholog thereof. FOS G0/G1 switch regulatory protein 7 cellular oncogene fos proto-oncogene protein c-fos transcription factor AP-1 subunit c-Fos protein G0S7 PR:000007597 Category=gene. Requested by=CL. protein c-Fos A protein that is a translation product of the human FOXN1 gene or a 1:1 ortholog thereof. IUPHARobj:2958 FOXN1 HNF-3/forkhead homolog 11 winged-helix transcription factor nude protein Fkh19 HFH-11 Hfh11 RONU WHN hepatocyte nuclear factor 3 forkhead homolog 11 PR:000007636 Category=gene. forkhead box protein N1 A protein that is a translation product of the human GATA1 gene or a 1:1 ortholog thereof. Eryf1 GATA-1 GATA-binding factor 1 GATA1 NF-E1 DNA-binding protein protein ERYF1 GF-1 GF1 PR:000007857 Category=gene. Requested by=CL. erythroid transcription factor A protein that is a translation product of the human GATA2 gene or a 1:1 ortholog thereof. GATA-binding protein 2 GATA2 protein PR:000007858 Category=gene. Requested by=CL. endothelial transcription factor GATA-2 A protein that is a translation product of the human HAVCR1 gene or a 1:1 ortholog thereof. CD365 HAVCR1 HAVcr-1 KIM-1 T cell immunoglobulin and mucin domain-containing protein 1 T cell membrane protein 1 T-cell immunoglobulin and mucin domain-containing protein 1 T-cell immunoglobulin mucin receptor 1 T-cell membrane protein 1 TIM-1 TIMD-1 kidney injury molecule 1 protein KIM1 TIM TIM1 TIMD1 PR:000008453 Category=gene. hepatitis A virus cellular receptor 1 A protein that is a translation product of the human IGFBP7 gene or a 1:1 ortholog thereof. IBP-7 IGF-binding protein 7 IGFBP-7 IGFBP-rP1 IGFBP7 MAC25 protein PGI2-stimulating factor TAF prostacyclin-stimulating factor tumor-derived adhesion factor protein MAC25 PSF PR:000008953 Category=gene. insulin-like growth factor-binding protein 7 An integrin beta that is a translation product of the human ITGB7 gene or a 1:1 ortholog thereof. IUPHARobj:2461 Gut homing receptor beta subunit ITGB7 M290 IEL antigen integrin beta-P protein PR:000009143 Category=gene. Requested by=CL. integrin beta-7 An L-lactate dehydrogenase, cytoplasmic that is a translation product of the human LDHAL6B gene or a 1:1 ortholog thereof. LDHAL6B protein LDHAL6 LDHL PR:000009741 Category=gene. L-lactate dehydrogenase A-like 6B A protein that is a translation product of the human LTF gene or a 1:1 ortholog thereof. LTF lactoferrin talalactoferrin protein GIG12 LF PR:000009978 Category=gene. Requested by=CL. lactotransferrin A protein that is a translation product of the human MMP9 gene or a 1:1 ortholog thereof. IUPHARobj:1633 92 kDa gelatinase 92 kDa type IV collagenase GELB MMP-9 MMP9 gelatinase B protein CLG4B PR:000010491 Category=gene. matrix metalloproteinase-9 A protein that is a translation product of the human MPO gene or a 1:1 ortholog thereof. IUPHARobj:2789 MPO protein PR:000010543 Category=gene. Requested by=CL. myeloperoxidase A protein that is a translation product of the human MYB gene or a 1:1 ortholog thereof. MYB proto-oncogene c-Myb protein PR:000010799 Category=gene. Requested by=CL. myb proto-oncogene protein A protein that is a translation product of the mouse Mcpt1 gene or a 1:1 ortholog thereof. MCP-1 Mcpt1 protein PR:000010902 Category=gene. mast cell protease 1 A transcription factor NF-kappa-B subunit that is a translation product of the human NFKB2 gene or a 1:1 ortholog thereof. DNA-binding factor KBF2 H2TF1 NFKB2 lymphocyte translocation chromosome 10 protein lyt10 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 oncogene Lyt-10 protein LYT10 PR:000011178 Category=gene. Requested by=CL. nuclear factor NF-kappa-B p100 subunit A protein that is a translation product of the human PRDX1 gene or a 1:1 ortholog thereof. NKEF-A OSF-3 PAG PRDX1 macrophage 23 kDa stress protein natural killer cell-enhancing factor A osteoblast-specific factor 3 proliferation-associated gene protein thioredoxin peroxidase 2 thioredoxin-dependent peroxide reductase 2 thioredoxin-dependent peroxiredoxin 1 protein Msp23 PAGA PAGB TDPX2 PR:000013191 Category=gene. peroxiredoxin-1 A protein that is a translation product of the human RBPJL gene or a 1:1 ortholog thereof. RBPJL transcription factor RBP-L protein RBPL RBPSUHL PR:000013825 Category=gene. recombining binding protein suppressor of hairless-like protein An angiotensinogenase that is a translation product of the human REN gene or a 1:1 ortholog thereof. IUPHARobj:2413 REN protein angiotensinogenase PR:000013883 Category=gene. renin A protein that is a translation product of the human S100A6 gene or a 1:1 ortholog thereof. 5B10 MLN 4 PRA S100 calcium-binding protein A6 S100A6 calcyclin growth factor-inducible protein 2A9 prolactin receptor-associated protein protein CACY PR:000014413 Category=gene. protein S100-A6 A serpin that is a translation product of the human SERPINF2 gene or a 1:1 ortholog thereof. SERPINF2 alpha-2-AP alpha-2-PI alpha-2-plasmin inhibitor serpin F2 protein AAP PLI PR:000014706 Category=gene. alpha-2-antiplasmin A protein that is a translation product of the human SHH gene or a 1:1 ortholog thereof. HHG-1 SHH Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains ShhNC protein Hhg1 PR:000014841 Category=gene. sonic hedgehog protein A protein that is a translation product of the human SLC9A3 gene or a 1:1 ortholog thereof. IUPHARobj:950 NHE-3 Na(+)/H(+) exchanger 3 SLC9A3 solute carrier family 9 member 3 protein NHE3 PR:000015214 Category=gene. sodium/hydrogen exchanger 3 A protein that is a translation product of the human TAL1 gene or a 1:1 ortholog thereof. T-cell leukemia/lymphoma protein 5 TAL-1 TAL1 bHLHa17 class A basic helix-loop-helix protein 17 stem cell protein protein BHLHA17 SCL TCL5 PR:000016043 Category=gene. Requested by=CL. T-cell acute lymphocytic leukemia protein 1 A protein that is a translation product of the human TFF3 gene or a 1:1 ortholog thereof. P1.B TFF3 intestinal trefoil factor polypeptide P1.B protein ITF TFI PR:000016276 Category=gene. trefoil factor 3 A protein that is a translation product of the human TIMP2 gene or a 1:1 ortholog thereof. CSC-21K TIMP-2 TIMP2 tissue inhibitor of metalloproteinases 2 protein PR:000016353 Category=gene. metalloproteinase inhibitor 2 A protein that is a translation product of the human TMED1 gene or a 1:1 ortholog thereof. TMED1 interleukin-1 receptor-like 1 ligand p24 family protein gamma-1 p24gamma1 putative T1/ST2 receptor-binding protein protein IL1RL1L IL1RL1LG PR:000016401 Category=gene. Requested by=CL. transmembrane emp24 domain-containing protein 1 A protein that is a translation product of the human VIM gene or a 1:1 ortholog thereof. VIM protein PR:000017298 Category=gene. vimentin 2 An organic amino compound that consists of amino acid residues (unmodified amino-acid residues and/or modified amino-acid residues) linked by peptide bonds or derivatives of such bonds. peptide polypeptide protein PR:000018263 Category=polymer. amino acid chain A protein that is produced as the result of proteolytic processing of a longer protein. ClvPrd peptide polypeptide protein PR:000018264 proteolytic cleavage product A T-cell surface glycoprotein CD8 alpha chain that has had the signal peptide removed. CD8A/SigPep- protein PR:000018335 Category=modification. T-cell surface glycoprotein CD8 alpha chain, signal peptide removed form A T-cell surface glycoprotein CD8 beta chain that has had the signal peptide removed. CD8B/SigPep- protein PR:000018337 Category=modification. T-cell surface glycoprotein CD8 beta chain, signal peptide removed form An acrosin that has been processed by proteolytic cleavage. ACR/ClvPrd protein PR:000018880 Category=modification. acrosin proteolytic cleavage product A clusterin that has been processed by proteolytic cleavage. CLU/ClvPrd protein PR:000019379 Category=modification. clusterin proteolytic cleavage product A cystatin-C that has had the signal peptide removed. CST3/SigPep- protein PR:000019534 Category=modification. cystatin-C, signal peptide removed form A part of a protein that is removed during the protein maturation process. cleaved_peptide_region protein PR:000021935 immature protein part A protein that was initially identified as an antibacterial enzyme located in egg whites of Embden goose, but is now known to exist in both mammals and fish. Lysozyme catalyzes hydrolysis of most bacterial cell walls by cleaving the beta-1,4 glycosidic bond between N-acetyl-d-glucosamine (NAG) and N-acetylmuramic acid (NAM) in the peptidoglycan layer. It contains one copy of the Transglycosylase SLT domain (Pfam:PF01464). PIRSF:PIRSF001065 goose-type lysozyme protein PR:000022001 Category=family. vertebrate G-type lysozyme An alkaline phosphatase that has had the signal peptide removed. phoA/SigPep- protein PR:000024649 Category=modification. alkaline phosphatase, signal peptide removed form A protein-containing complex that is a membrane-bound heterodimeric co-receptor for MHC class-I antigen/T-cell receptor interaction. CD8alphabeta TCR co-receptor CD8 protein PR:000025402 Category=complex. Requested by=CL. T cell receptor co-receptor CD8 A T-cell surface glycoprotein CD8 alpha chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P01732-1 or a 1:1 ortholog thereof. Having a single-pass transmembrane domain, this form is membrane bound. CD8A/iso:1 mCD8alpha protein PR:000025403 Category=sequence. Requested by=CL. T-cell surface glycoprotein CD8 alpha chain isoform 1 A T-cell surface glycoprotein CD8 beta chain that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P10966-1 or a 1:1 ortholog thereof. CD8B/iso:1 CD8beta isoform M-1 protein PR:000025405 Category=sequence. T-cell surface glycoprotein CD8 beta chain isoform 1 A T-cell surface glycoprotein CD8 alpha chain isoform 1 that has had the signal peptide removed to yield the mature form. CD8A/iso:1/SigPep- protein PR:000025406 Category=modification. T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 beta chain isoform 1 that has had the signal peptide removed to yield the mature form. CD8B/iso:1/SigPep- protein PR:000025407 Category=modification. T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form A T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. CD8A/iso:1/SigPep-/GlycoRes+ protein PR:000025408 Category=modification. T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed glycosylated form A T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form that includes at least one glycosylated residue. CD8B/iso:1/SigPep-/GlycoRes+ protein PR:000025409 Category=modification. T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed glycosylated form A protein that is composed of a long N-terminal extracellular domain, a transmembrane domain and a short cytoplasmic C-terminal domain. The N-terminal domain contains beta-propeller repeats (interrupted by an A domain in a subset of integrins alpha), while the C-terminal domain contains a GFFxR motif. protein PR:000025796 Category=family. Integrins are heterodimeric complexes of an alpha and a beta subunit. They are a structurally elaborate family of adhesion molecules that transmit signals bidirectionally across the plasma membrane by undergoing large-scale structural rearrangements. By regulating cell-cell and cell-matrix contacts, integrins participate in a wide-range of biological interactions including development, tissue repair, angiogenesis, inflammation and hemostasis. [PMID:10402956, PMID:11988479, PMID:9676575]. integrin alpha A protein that is primarily known as an irreversible serine protease inhibitor active against S1, S8 and C14 peptidases. There are both extra- and intra-cellular serpins, which are found in all groups of organisms with the notable exception of fungi. Serpin contains a copy of the Serpin (Pfam:PF00079) domain. PANTHER:PTHR11461 PIRSF:PIRSF001630 protein PR:000025875 Category=family. serpin A protein that is encoded in the genome of Mus musculus. mouse protein protein PR:000029032 Mus musculus protein A protein that is encoded in the genome of Homo sapiens. human protein protein PR:000029067 Homo sapiens protein A protein that has G protein-coupled receptor (GPCR) activity. Each GPCR consists of a single polypeptide with an extracellular N-terminus, an intracellular C-terminus and seven hydrophobic transmembrane domains (TM1-TM7) linked by three extracellular loops (ECL1-ECL3) and three intracellular loops (ICL1-ICL3). GPCRs function as part of a heterotrimeric complex to transmit an extracellular signal across the membrane by activating an associated G-protein via the exchange of GDP for GTP on the alpha subunit. 7TM receptor seven-transmembrane receptor IUPHARfam:694 fam:GPCR protein PR:000030035 Category=family. Classification based on GRAFS system. [PMID:12761335] G-protein coupled receptor A protein that is a translation product of the Escherichia coli K-12 ggt gene or a 1:1 ortholog thereof. gamma-glutamyltranspeptidase Ggt ggt glutathione hydrolase protein PR:000033214 Category=gene. glutathione hydrolase proenzyme A protein that is encoded in the genome of some Eukaryota. Eukaryota protein protein PR:000036194 eukaryotic protein A T-cell surface glycoprotein CD1 that is encoded in the genome of human. MRO:0000634 HLA-CD1 chain hCD1 protein PR:000036947 Category=organism-family. Requested by=IEDB. Requested by=ImmPort. T-cell surface glycoprotein CD1 (human) A protein that includes at least one glycosylated residue. Prot/GlycoRes+ glycated protein glycosylated protein protein PR:000037069 Category=modification. glycoprotein A protein that is a translation product of some metazoan gene that encodes a signal peptide followed by a single Cathepsin propeptide inhibitor domain (Pfam:PF08246) followed by a single Papain family cysteine protease (Pfam:PF00112) domain at the C terminus. fam:CTS cathepsin protein PR:000040662 Category=family. cathepsin-like protease An ion channel protein that has voltage-gated ion channel activity. A voltage-gated ion channel enables the transmembrane transfer of a solute by a channel whose open state is dependent on the voltage across the membrane in which it is embedded. IUPHARfam:696 fam:vgate_ion_chan protein PR:000044628 Category=family. voltage-gated ion channel protein A voltage-gated ion channel protein that has potassium channel activity. A potassium channel enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. IUPHARfam:133 fam:K_chan protein PR:000044655 Category=family. potassium channel protein A voltage-gated ion channel protein that has voltage-gated sodium channel activity. A voltage-gated sodium channel enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. IUPHARfam:82 fam:vgate_Na_chan voltage gated sodium channel protein voltage-dependent sodium channel protein voltage-gated sodium ion channel protein voltage-sensitive sodium channel protein protein PR:000044660 Category=family. voltage-gated sodium channel protein A protein that has channel activity. Channel proteins enable energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. channel-forming toxin protein channel/pore class transporter protein fam:chan nonselective channel protein pore class transporter protein pore protein protein PR:000044676 Category=family. channel protein A channel protein that has ion channel activity. An ion channel enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. IUPHARfam:689 fam:ion_chan protein PR:000049983 Category=family. ion channel protein A protein that is a translation product of the mouse Ren1 or Ren2 genes, 1:1 orthologs thereof, or a semi-ortholog thereof. fam:angiotensinogenase protein PR:000050025 Category=family. angiotensinogenase An amino acid chain that is produced as an outcome of a planned process with the intent to create an amino acid sequence different from native proteins known at the time. artificial sequence protein engineered protein synthetic protein protein PR:000050098 Requested by=IEDB. artificial protein A receptor-type tyrosine-protein phosphatase C that is a translation product of a transcript that minimally includes the region encoded by the variable exon 4(A). CD45R PTPRC/iso:CD45R protein PR:000050216 Category=seqgroup. Requested by=CL. receptor-type tyrosine-protein phosphatase C isoform CD45R A material entity that minimally consists of a protein. protein protein aggregate protein complex protein-containing complex protein PR:000050567 Note: This includes single proteins and derivatives thereof (PR:000000001), protein-containing complexes (GO:0032991), and protein aggregates (PR:000050566). protein-containing material entity A TLD domain-containing protein 2 that is encoded in the genome of human. UniProtKB:A0PJX2 TBC/LysM-associated domain-containing protein 2 (human) hTLDC2 protein TLDC2 PR:A0PJX2 Category=organism-gene. TLD domain-containing protein 2 (human) An ectonucleotide pyrophosphatase/phosphodiesterase family member 3 that is encoded in the genome of human. Reactome:R-HSA-8939012 UniProtKB:O14638 CD203c (human) E-NPP 3 (human) NPP3 (human) PD-Ibeta (human) hENPP3 phosphodiesterase I beta (human) phosphodiesterase I/nucleotide pyrophosphatase 3 (human) protein ENPP3 PDNP3 PR:O14638 Category=organism-gene. ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (human) A forkhead box protein N1 that is encoded in the genome of human. UniProtKB:O15353 hFOXN1 winged-helix transcription factor nude (human) protein FOXN1 RONU WHN PR:O15353 Category=organism-gene. forkhead box protein N1 (human) A proline dehydrogenase 1, mitochondrial that is encoded in the genome of human. UniProtKB:O43272 hPRODH p53-induced gene 6 protein (human) proline oxidase (human) proline oxidase 2 (human) protein PIG6 POX2 PRODH PRODH2 PR:O43272 Category=organism-gene. proline dehydrogenase 1, mitochondrial (human) A prominin-1 that is encoded in the genome of human. UniProtKB:O43490 CD133 (human) antigen AC133 (human) hPROM1 prominin-like protein 1 (human) protein MSTP061 PROM1 PROML1 PR:O43490 Category=organism-gene. prominin-1 (human) An adenylate cyclase type 3 that is encoded in the genome of human. Reactome:R-HSA-379051 UniProtKB:O60266 AC-III (human) AC3 (human) ATP pyrophosphate-lyase 3 (human) adenylate cyclase type III (human) adenylate cyclase, olfactive type (human) adenylyl cyclase 3 (human) hADCY3 protein ADCY3 KIAA0511 PR:O60266 Category=organism-gene. adenylate cyclase type 3 (human) A nephrin that is encoded in the genome of human. UniProtKB:O60500 hNPHS1 renal glomerulus-specific cell adhesion receptor (human) protein NPHN NPHS1 PR:O60500 Category=organism-gene. nephrin (human) A receptor activity-modifying protein 3 that is encoded in the genome of human. UniProtKB:O60896 CRLR activity-modifying protein 3 (human) calcitonin-receptor-like receptor activity-modifying protein 3 (human) hRAMP3 protein RAMP3 PR:O60896 Category=organism-gene. receptor activity-modifying protein 3 (human) A LIM domain-binding protein 3 that is encoded in the genome of human. UniProtKB:O75112 Z-band alternatively spliced PDZ-motif protein (human) hLDB3 protein cypher (human) protein KIAA0613 LDB3 ZASP PR:O75112 Category=organism-gene. LIM domain-binding protein 3 (human) A retinal dehydrogenase 2 that is encoded in the genome of human. Reactome:R-HSA-2980945 UniProtKB:O94788 RALDH 2 (human) RALDH(II) (human) aldehyde dehydrogenase family 1 member A2 (human) hALDH1A2 retinaldehyde-specific dehydrogenase type 2 (human) protein ALDH1A2 RALDH2 PR:O94788 Category=organism-gene. retinal dehydrogenase 2 (human) A potassium channel subfamily K member 2 that is encoded in the genome of human. DTO:01100214 Reactome:R-HSA-1296328 UniProtKB:O95069 TREK-1 K(+) channel subunit (human) hKCNK2 outward rectifying potassium channel protein TREK-1 (human) two pore domain potassium channel TREK-1 (human) two pore potassium channel TPKC1 (human) protein KCNK2 TREK TREK1 PR:O95069 Category=organism-gene. potassium channel subfamily K member 2 (human) A neurexophilin-2 that is encoded in the genome of human. UniProtKB:O95156 hNXPH2 protein NPH2 NXPH2 PR:O95156 Category=organism-gene. neurexophilin-2 (human) A haptoglobin that is encoded in the genome of human. UniProtKB:P00738 hHP zonulin (human) protein HP PR:P00738 Category=organism-gene. haptoglobin (human) A renin that is encoded in the genome of human. UniProtKB:P00797 angiotensinogenase (human) hREN protein REN PR:P00797 Category=organism-gene. renin (human) An angiotensinogen that is encoded in the genome of human. UniProtKB:P01019 hAGT serpin A8 (human) protein AGT SERPINA8 PR:P01019 Category=organism-gene. angiotensinogen (human) A cystatin-C that is encoded in the genome of human. UniProtKB:P01034 cystatin-3 (human) gamma-trace (human) hCST3 neuroendocrine basic polypeptide (human) post-gamma-globulin (human) protein CST3 PR:P01034 Category=organism-gene. cystatin-C (human) A protein c-Fos that is encoded in the genome of human. Reactome:R-HSA-450216 UniProtKB:P01100 Fos proto-oncogene, AP-1 transcription factor subunit (human) G0/G1 switch regulatory protein 7 (human) cellular oncogene fos (human) hFOS proto-oncogene c-Fos (human) transcription factor AP-1 subunit c-Fos (human) protein FOS G0S7 PR:P01100 Category=organism-gene. protein c-Fos (human) A pro-epidermal growth factor that is encoded in the genome of human. UniProtKB:P01133 hEGF protein EGF PR:P01133 Category=organism-gene. pro-epidermal growth factor (human) A somatotropin that is encoded in the genome of human. GH (human) UniProtKB:P01241 GH-N (human) growth hormone (human) growth hormone 1 (human) hGH1 pituitary growth hormone (human) protein GH1 PR:P01241 Category=organism-gene. somatotropin (human) A tumor necrosis factor that is encoded in the genome of human. Reactome:R-HSA-66220 UniProtKB:P01375 TNF-a (human) TNF-alpha (human) TNFa (human) cachectin (human) hTNF tumor necrosis factor ligand superfamily member 2 (human) protein TNF TNFA TNFSF2 PR:P01375 Category=organism-gene. Requested by=PubChem. tumor necrosis factor (human) An interferon gamma that is encoded in the genome of human. UniProtKB:P01579 IFN-gamma (human) hIFNG immune interferon (human) protein IFNG PR:P01579 Category=organism-gene. interferon gamma (human) An interleukin-2 receptor subunit alpha that is encoded in the genome of human. p55 (human) UniProtKB:P01589 CD25 (human) IL-2 receptor subunit alpha (human) IL-2-RA (human) IL-2R subunit alpha (human) IL2-RA (human) TAC antigen (human) hIL2RA protein IL2RA PR:P01589 Category=organism-gene. interleukin-2 receptor subunit alpha (human) An immunoglobulin J chain that is encoded in the genome of human. UniProtKB:P01591 hJCHAIN joining chain of multimeric IgA and IgM (human) protein IGCJ IGJ JCHAIN PR:P01591 Category=organism-gene. immunoglobulin J chain (human) A T-cell surface glycoprotein CD8 alpha chain that is encoded in the genome of human. UniProtKB:P01732 CD8a (human) T-lymphocyte differentiation antigen T8/Leu-2 (human) hCD8A protein CD8A MAL PR:P01732 Category=organism-gene. T-cell surface glycoprotein CD8 alpha chain (human) A T-cell surface glycoprotein CD8 alpha chain isoform 1 that is encoded in the genome of human. UniProtKB:P01732-1 T-cell surface glycoprotein CD8 alpha chain isoform mCD8alpha (human) T-cell surface glycoprotein CD8 alpha chain isoform membrane (human) hCD8A/iso:1 protein PR:P01732-1 Category=organism-sequence. T-cell surface glycoprotein CD8 alpha chain isoform 1 (human) An MHC class II histocompatibility antigen beta chain DRB1 that is encoded in the genome of human. MRO:0000697 UniProtKB:P01911 HLA-DRB1 chain MHC class II histocompatibility antigen (human) hHLA-DRB1 human leukocyte antigen DRB1 protein HLA-DRB1 PR:P01911 Category=organism-gene. Requested by=IEDB. Requested by=ImmPort. HLA class II histocompatibility antigen, DRB1 beta chain (human) A collagen alpha-1(IV) chain that is encoded in the genome of human. UniProtKB:P02462 hCOL4A1 protein COL4A1 PR:P02462 Category=organism-gene. collagen alpha-1(IV) chain (human) A retinol-binding protein 4 that is encoded in the genome of human. UniProtKB:P02753 PRBP (human) RBP (human) hRBP4 plasma retinol-binding protein (human) protein PRO2222 RBP4 PR:P02753 Category=organism-gene. retinol-binding protein 4 (human) A protein AMBP that is encoded in the genome of human. UniProtKB:P02760 hAMBP protein HC (human) protein AMBP HCP ITIL PR:P02760 Category=organism-gene. protein AMBP (human) A C-X-C motif chemokine 10 that is encoded in the genome of human. UniProtKB:P02778 10 kDa interferon gamma-induced protein (human) IP-10 (human) gamma-IP10 (human) hCXCL10 small-inducible cytokine B10 (human) protein CXCL10 INP10 SCYB10 PR:P02778 Category=organism-gene. C-X-C motif chemokine 10 (human) A transferrin receptor protein 1 that is encoded in the genome of human. TR (human) p90 (human) Reactome:R-HSA-434196 Reactome:R-HSA-434330 Reactome:R-HSA-8869124 Reactome:R-HSA-8961829 Reactome:R-HSA-917983 UniProtKB:P02786 CD71 (human) T9 (human) TfR (human) TfR1 (human) Trfr (human) hTFRC protein TFRC PR:P02786 Category=organism-gene. transferrin receptor protein 1 (human) A serotransferrin that is encoded in the genome of human. UniProtKB:P02787 beta-1 metal-binding globulin (human) hTF siderophilin (human) transferrin (human) protein PRO1400 TF PR:P02787 Category=organism-gene. serotransferrin (human) A lactotransferrin that is encoded in the genome of human. UniProtKB:P02788 growth-inhibiting protein 12 (human) hLTF lactoferrin (human) talalactoferrin (human) protein GIG12 LF LTF PR:P02788 Category=organism-gene. lactotransferrin (human) A DNA nucleotidylexotransferase that is encoded in the genome of human. terminal transferase (human) UniProtKB:P04053 hDNTT terminal addition enzyme (human) terminal deoxynucleotidyltransferase (human) protein DNTT TDT PR:P04053 Category=organism-gene. DNA nucleotidylexotransferase (human) A Thy-1 membrane glycoprotein that is encoded in the genome of human. UniProtKB:P04216 CD90 (human) CDw90 (human) Thy-1 antigen (human) hTHY1 protein THY1 PR:P04216 Category=organism-gene. Thy-1 membrane glycoprotein (human) A von Willebrand factor that is encoded in the genome of human. UniProtKB:P04275 hVWF vWF (human) protein F8VWF VWF PR:P04275 Category=organism-gene. von Willebrand factor (human) An insulin-like growth factor I that is encoded in the genome of human. MGF (human) UniProtKB:P05019 IGF-I (human) hIGF1 mechano growth factor (human) somatomedin-C (human) protein IBP1 IGF1 PR:P05019 Category=organism-gene. insulin-like growth factor I (human) An arginase-1 that is encoded in the genome of human. Reactome:R-HSA-6798764 Reactome:R-HSA-6801011 Reactome:R-HSA-6806221 Reactome:R-HSA-70561 UniProtKB:P05089 hARG1 liver-type arginase (human) type I arginase (human) protein ARG1 PR:P05089 Category=organism-gene. arginase-1 (human) A myeloperoxidase that is encoded in the genome of human. UniProtKB:P05164 hMPO protein MPO PR:P05164 Category=organism-gene. myeloperoxidase (human) An interleukin-6 that is encoded in the genome of human. UniProtKB:P05231 B-cell stimulatory factor 2 (human) BSF-2 (human) CDF (human) CTL differentiation factor (human) IFN-beta-2 (human) IL-6 (human) hIL6 hybridoma growth factor (human) interferon beta-2 (human) protein IFNB2 IL6 PR:P05231 Category=organism-gene. interleukin-6 (human) A T-cell surface glycoprotein CD1a that is encoded in the genome of human. MRO:0000888 UniProtKB:P06126 CD1a (human) T-cell surface antigen T6/Leu-6 (human) hCD1A hTa1 thymocyte antigen human CD1a chain protein CD1A PR:P06126 Category=organism-gene. T-cell surface glycoprotein CD1a (human) A T-cell surface glycoprotein CD5 that is encoded in the genome of human. UniProtKB:P06127 hCD5 lymphocyte antigen T1/Leu-1 (human) protein CD5 LEU1 PR:P06127 Category=organism-gene. T-cell surface glycoprotein CD5 (human) A fatty acid-binding protein, liver that is encoded in the genome of human. Reactome:R-HSA-1989743 Reactome:R-HSA-2026981 UniProtKB:P07148 L-FABP (human) fatty acid-binding protein 1 (human) hFABP1 liver-type fatty acid-binding protein (human) protein FABP1 FABPL PR:P07148 Category=organism-gene. fatty acid-binding protein, liver (human) A macrophage colony-stimulating factor 1 receptor that is encoded in the genome of human. DTO:03100090 UniProtKB:P07333 CD115 (human) CSF-1 receptor (human) CSF-1-R (human) CSF-1R (human) M-CSF-R (human) hCSF1R proto-oncogene c-Fms (human) protein CSF1R FMS PR:P07333 Category=organism-gene. macrophage colony-stimulating factor 1 receptor (human) A uromodulin that is encoded in the genome of human. UniProtKB:P07911 THP (human) Tamm-Horsfall urinary glycoprotein (human) hUMOD protein UMOD PR:P07911 Category=organism-gene. uromodulin (human) A 72 kDa type IV collagenase that is encoded in the genome of human. UniProtKB:P08253 72 kDa gelatinase (human) MMP-2 (human) TBE-1 (human) gelatinase A (human) hMMP2 matrix metalloproteinase-2 (human) protein CLG4A MMP2 PR:P08253 Category=organism-gene. 72 kDa type IV collagenase (human) A neprilysin that is encoded in the genome of human. UniProtKB:P08473 CALLA (human) CD10 (human) NEP (human) SFE (human) atriopeptidase (human) common acute lymphocytic leukemia antigen (human) enkephalinase (human) hMME neutral endopeptidase (human) neutral endopeptidase 24.11 (human) skin fibroblast elastase (human) protein EPN MME PR:P08473 Category=organism-gene. neprilysin (human) A receptor-type tyrosine-protein phosphatase C that is encoded in the genome of human. UniProtKB:P08575 L-CA (human) T200 (human) hPTPRC leukocyte common antigen (human) protein CD45 PTPRC PR:P08575 Category=organism-gene. receptor-type tyrosine-protein phosphatase C (human) A receptor-type tyrosine-protein phosphatase C isoform CD45RA that is encoded in the genome of human. UniProtKB:P08575-8 CD45RA (human) hPTPRC/iso:CD45RA protein PR:P08575-8 Category=organism-sequence. Requested by=CL. receptor-type tyrosine-protein phosphatase C isoform CD45RA (human) A vimentin that is encoded in the genome of human. Reactome:R-HSA-9646687 Reactome:R-HSA-9657898 Reactome:R-HSA-9659977 Reactome:R-HSA-9660019 UniProtKB:P08670 hVIM protein VIM PR:P08670 Category=organism-gene. vimentin (human) A matrilysin that is encoded in the genome of human. UniProtKB:P09237 MMP-7 (human) Pump-1 protease (human) hMMP7 matrin (human) matrix metalloproteinase-7 (human) uterine metalloproteinase (human) protein MMP7 MPSL1 PUMP1 PR:P09237 Category=organism-gene. matrilysin (human) An interleukin-8 that is encoded in the genome of human. GCP-1 (human) UniProtKB:P10145 C-X-C motif chemokine 8 (human) IL-8 (human) MDNCF (human) MONAP (human) NAP-1 (human) T-cell chemotactic factor (human) chemokine (C-X-C motif) ligand 8 (human) emoctakin (human) granulocyte chemotactic protein 1 (human) hCXCL8 monocyte-derived neutrophil chemotactic factor (human) monocyte-derived neutrophil-activating peptide (human) neutrophil-activating protein 1 (human) protein 3-10C (human) protein CXCL8 IL8 PR:P10145 Category=organism-gene. Salivary oral cancer biomarker. interleukin-8 (human) A T-cell surface glycoprotein CD8 beta chain that is encoded in the genome of human. UniProtKB:P10966 CD8b (human) hCD8B protein CD8B CD8B1 PR:P10966 Category=organism-gene. T-cell surface glycoprotein CD8 beta chain (human) An integrin alpha-M that is encoded in the genome of human. UniProtKB:P11215 CD11 antigen-like family member B (human) CR-3 alpha chain (human) cell surface glycoprotein MAC-1 subunit alpha (human) hITGAM leukocyte adhesion receptor MO1 (human) neutrophil adherence receptor (human) protein CD11B CR3A ITGAM PR:P11215 Category=organism-gene. integrin alpha-M (human) A high affinity immunoglobulin epsilon receptor subunit alpha that is encoded in the genome of human. FcERI (human) UniProtKB:P12319 Fc-epsilon RI-alpha (human) IgE Fc receptor subunit alpha (human) hFCER1A protein FCE1A FCER1A PR:P12319 Category=organism-gene. high affinity immunoglobulin epsilon receptor subunit alpha (human) A C-C motif chemokine 2 that is encoded in the genome of human. UniProtKB:P13500 HC11 (human) MCAF (human) MCP-1 (human) hCCL2 monocyte chemoattractant protein 1 (human) monocyte chemotactic and activating factor (human) monocyte chemotactic protein 1 (human) monocyte secretory protein JE (human) small-inducible cytokine A2 (human) protein CCL2 MCP1 SCYA2 PR:P13500 Category=organism-gene. C-C motif chemokine 2 (human) A neural cell adhesion molecule 1 that is encoded in the genome of human. UniProtKB:P13591 CD56 (human) N-CAM-1 (human) NCAM-1 (human) hNCAM1 protein NCAM NCAM1 PR:P13591 Category=organism-gene. neural cell adhesion molecule 1 (human) A keratin, type II cytoskeletal 5 that is encoded in the genome of human. Reactome:R-HSA-446074 UniProtKB:P13647 58 kDa cytokeratin (human) CK-5 (human) K5 (human) cytokeratin-5 (human) hKRT5 keratin-5 (human) type-II keratin Kb5 (human) protein KRT5 PR:P13647 Category=organism-gene. keratin, type II cytoskeletal 5 (human) A tartrate-resistant acid phosphatase type 5 that is encoded in the genome of human. UniProtKB:P13686 TR-AP (human) TrATPase (human) hACP5 tartrate-resistant acid ATPase (human) type 5 acid phosphatase (human) protein ACP5 PR:P13686 Category=organism-gene. tartrate-resistant acid phosphatase type 5 (human) An interleukin-2 receptor subunit beta that is encoded in the genome of human. p75 (human) UniProtKB:P14784 CD122 (human) IL-2 receptor subunit beta (human) IL-2R subunit beta (human) IL-2RB (human) hIL2RB high affinity IL-2 receptor subunit beta (human) interleukin-15 receptor subunit beta (human) p70-75 (human) protein IL15RB IL2RB PR:P14784 Category=organism-gene. interleukin-2 receptor subunit beta (human) A granulocyte-macrophage colony-stimulating factor receptor subunit alpha that is encoded in the genome of human. UniProtKB:P15509 CD116 (human) CDw116 (human) GM-CSF-R-alpha (human) GMCSFR-alpha (human) GMR-alpha (human) hCSF2RA protein CSF2R CSF2RA CSF2RY PR:P15509 Category=organism-gene. granulocyte-macrophage colony-stimulating factor receptor subunit alpha (human) A vascular endothelial growth factor A that is encoded in the genome of human. UniProtKB:P15692 VEGF-A (human) VPF (human) hVEGFA vascular permeability factor (human) protein VEGF VEGFA PR:P15692 Category=organism-gene. vascular endothelial growth factor A (human) A V(D)J recombination-activating protein 1 that is encoded in the genome of human. Reactome:R-HSA-5692681 UniProtKB:P15918 RAG-1 (human) RING finger protein 74 (human) hRAG1 protein RAG1 RNF74 PR:P15918 Category=organism-gene. V(D)J recombination-activating protein 1 (human) An erythroid transcription factor that is encoded in the genome of human. GF-1 (human) Reactome:R-HSA-996772 UniProtKB:P15976 GATA-1 (human) GATA-binding factor 1 (human) NF-E1 DNA-binding protein (human) hGATA1 protein ERYF1 GATA1 GF1 PR:P15976 Category=organism-gene. erythroid transcription factor (human) A leukosialin that is encoded in the genome of human. UniProtKB:P16150 GALGP (human) GPL115 (human) galactoglycoprotein (human) hSPN leukocyte sialoglycoprotein (human) sialophorin (human) protein CD43 SPN PR:P16150 Category=organism-gene. leukosialin (human) A platelet glycoprotein 4 that is encoded in the genome of human. UniProtKB:P16671 FAT (human) GPIIIB (human) GPIV (human) PAS IV (human) PAS-4 (human) fatty acid translocase (human) glycoprotein IIIb (human) hCD36 leukocyte differentiation antigen CD36 (human) platelet collagen receptor (human) platelet glycoprotein IV (human) thrombospondin receptor (human) protein CD36 GP3B GP4 PR:P16671 Category=organism-gene. platelet glycoprotein 4 (human) A natriuretic peptides B that is encoded in the genome of human. UniProtKB:P16860 Iso-ANP (human) brain natriuretic factor prohormone (human) gamma-brain natriuretic peptide (human) hNPPB preproBNP (human) proBNP (human) protein NPPB PR:P16860 Category=organism-gene. natriuretic peptides B (human) A carboxypeptidase E that is encoded in the genome of human. UniProtKB:P16870 CPH (human) carboxypeptidase H (human) enkephalin convertase (human) hCPE prohormone-processing carboxypeptidase (human) protein CPE PR:P16870 Category=organism-gene. carboxypeptidase E (human) An interleukin-7 receptor subunit alpha that is encoded in the genome of human. UniProtKB:P16871 CD127 (human) CDw127 (human) IL-7 receptor subunit alpha (human) IL-7R subunit alpha (human) IL-7R-alpha (human) IL-7RA (human) hIL7R protein IL7R PR:P16871 Category=organism-gene. interleukin-7 receptor subunit alpha (human) An integrin alpha-2 that is encoded in the genome of human. UniProtKB:P17301 CD49 antigen-like family member B (human) GPIa (human) VLA-2 subunit alpha (human) collagen receptor (human) hITGA2 platelet membrane glycoprotein Ia (human) protein CD49B ITGA2 PR:P17301 Category=organism-gene. integrin alpha-2 (human) A T-cell acute lymphocytic leukemia protein 1 that is encoded in the genome of human. Reactome:R-HSA-8956511 UniProtKB:P17542 Stem cell protein (human) T-cell leukemia/lymphoma protein 5 (human) TAL-1 (human) class A basic helix-loop-helix protein 17 (human) hTAL1 protein BHLHA17 SCL TAL1 TCL5 PR:P17542 Category=organism-gene. T-cell acute lymphocytic leukemia protein 1 (human) A transcription factor PU.1 that is encoded in the genome of human. Reactome:R-HSA-8865503 UniProtKB:P17947 31 kDa-transforming protein (human) hSPI1 protein SPI1 PR:P17947 Category=organism-gene. transcription factor PU.1 (human) A glutathione peroxidase 2 that is encoded in the genome of human. Reactome:R-HSA-2142687 UniProtKB:P18283 GPRP-2 (human) GPx-2 (human) GPx-GI (human) GSHPx-2 (human) GSHPx-GI (human) gastrointestinal glutathione peroxidase (human) glutathione peroxidase-gastrointestinal (human) glutathione peroxidase-related protein 2 (human) hGPX2 protein GPX2 PR:P18283 Category=organism-gene. glutathione peroxidase 2 (human) A syndecan-1 that is encoded in the genome of human. UniProtKB:P18827 CD138 (human) SYND1 (human) hSDC1 protein SDC SDC1 PR:P18827 Category=organism-gene. syndecan-1 (human) A vascular cell adhesion protein 1 that is encoded in the genome of human. UniProtKB:P19320 CD106 (human) INCAM-100 (human) V-CAM 1 (human) VCAM-1 (human) hVCAM1 protein VCAM1 PR:P19320 Category=organism-gene. vascular cell adhesion protein 1 (human) A tumor necrosis factor receptor superfamily member 1A that is encoded in the genome of human. p55 (human) p60 (human) UniProtKB:P19438 CD120a (human) TNF-R1 (human) TNF-RI (human) TNFR-I (human) hTNFRSF1A tumor necrosis factor receptor 1 (human) tumor necrosis factor receptor type I (human) protein TNFAR TNFR1 TNFRSF1A PR:P19438 Category=organism-gene. tumor necrosis factor receptor superfamily member 1A (human) A tumor necrosis factor receptor superfamily member 1B that is encoded in the genome of human. p75 (human) UniProtKB:P20333 CD120b (human) TNF-R2 (human) TNF-RII (human) TNFR-II (human) etanercept (human) hTNFRSF1B p80 TNF-alpha receptor (human) tumor necrosis factor receptor 2 (human) tumor necrosis factor receptor type II (human) protein TNFBR TNFR2 TNFRSF1B PR:P20333 Category=organism-gene. tumor necrosis factor receptor superfamily member 1B (human) An integrin alpha-X that is encoded in the genome of human. UniProtKB:P20702 CD11 antigen-like family member C (human) Leu M5 (human) hITGAX leukocyte adhesion glycoprotein p150,95 alpha chain (human) leukocyte adhesion receptor p150,95 (human) protein CD11C ITGAX PR:P20702 Category=organism-gene. integrin alpha-X (human) A collagen alpha-1(V) chain that is encoded in the genome of human. Reactome:R-HSA-2268801 UniProtKB:P20908 hCOL5A1 protein COL5A1 PR:P20908 Category=organism-gene. collagen alpha-1(V) chain (human) A synaptotagmin-1 that is encoded in the genome of human. p65 (human) Reactome:R-HSA-168786 Reactome:R-HSA-194789 Reactome:R-HSA-210536 Reactome:R-HSA-372508 Reactome:R-HSA-372514 Reactome:R-HSA-8869113 Reactome:R-HSA-917741 UniProtKB:P21579 SytI (human) hSYT1 synaptotagmin I (human) protein SVP65 SYT SYT1 PR:P21579 Category=organism-gene. synaptotagmin-1 (human) A macrophage scavenger receptor types I and II that is encoded in the genome of human. UniProtKB:P21757 CD204 (human) hMSR1 macrophage acetylated LDL receptor I and II (human) scavenger receptor class A member 1 (human) protein MSR1 SCARA1 PR:P21757 Category=organism-gene. macrophage scavenger receptor types I and II (human) An alpha-(1,3)-fucosyltransferase 4 that is encoded in the genome of human. galactoside 3-L-fucosyltransferase (human) Reactome:R-HSA-9034106 UniProtKB:P22083 ELAM-1 ligand fucosyltransferase (human) Fuc-TIV (human) FucT-IV (human) fucosyltransferase 4 (human) fucosyltransferase IV (human) hFUT4 protein 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase (human) ELFT FCT3A FUT4 PR:P22083 Category=organism-gene. alpha-(1,3)-fucosyltransferase 4 (human) An interleukin-10 that is encoded in the genome of human. UniProtKB:P22301 CSIF (human) IL-10 (human) cytokine synthesis inhibitory factor (human) hIL10 protein IL10 PR:P22301 Category=organism-gene. interleukin-10 (human) A macrophage mannose receptor 1 that is encoded in the genome of human. UniProtKB:P22897 C-type lectin domain family 13 member D (human) C-type lectin domain family 13 member D-like (human) CD206 (human) MMR (human) hMR hMRC1 human mannose receptor macrophage mannose receptor 1-like protein 1 (human) protein CLEC13D CLEC13DL MRC1 MRC1L1 PR:P22897 Category=organism-gene. macrophage mannose receptor 1 (human) An endothelial transcription factor GATA-2 that is encoded in the genome of human. Reactome:R-HSA-996735 UniProtKB:P23769 GATA-binding protein 2 (human) hGATA2 protein GATA2 PR:P23769 Category=organism-gene. endothelial transcription factor GATA-2 (human) A COUP transcription factor 2 that is encoded in the genome of human. DTO:00117509 Reactome:R-HSA-1183002 UniProtKB:P24468 ARP-1 (human) COUP transcription factor II (human) COUP-TF II (human) COUP-TF2 (human) apolipoprotein A-I regulatory protein 1 (human) hNR2F2 nuclear receptor subfamily 2 group F member 2 (human) protein ARP1 NR2F2 TFCOUP2 PR:P24468 Category=organism-gene. COUP transcription factor 2 (human) A tenascin that is encoded in the genome of human. TN (human) TN-C (human) UniProtKB:P24821 GMEM (human) GP 150-225 (human) JI (human) cytotactin (human) glioma-associated-extracellular matrix antigen (human) hTNC hexabrachion (human) myotendinous antigen (human) neuronectin (human) tenascin-C (human) protein HXB TNC PR:P24821 Category=organism-gene. tenascin (human) A C-X-C chemokine receptor type 1 that is encoded in the genome of human. DTO:02100075 Reactome:R-HSA-373805 Reactome:R-HSA-6804780 UniProtKB:P25024 CD181 (human) CDw128a (human) CXC-R1 (human) CXCR-1 (human) IL-8 receptor type 1 (human) IL-8R A (human) hCXCR1 high affinity interleukin-8 receptor A (human) protein CMKAR1 CXCR1 IL8RA PR:P25024 Category=organism-gene. C-X-C chemokine receptor type 1 (human) A C-X-C chemokine receptor type 2 that is encoded in the genome of human. DTO:02100076 Reactome:R-HSA-373796 Reactome:R-HSA-6804771 UniProtKB:P25025 CD182 (human) CDw128b (human) CXC-R2 (human) CXCR-2 (human) GRO/MGSA receptor (human) IL-8 receptor type 2 (human) IL-8R B (human) hCXCR2 high affinity interleukin-8 receptor B (human) protein CXCR2 IL8RB PR:P25025 Category=organism-gene. Requested by=PubChem. C-X-C chemokine receptor type 2 (human) A signal transducer CD24 that is encoded in the genome of human. UniProtKB:P25063 hCD24 small cell lung carcinoma cluster 4 antigen (human) protein CD24 CD24A PR:P25063 Category=organism-gene. signal transducer CD24 (human) An integrin beta-7 that is encoded in the genome of human. UniProtKB:P26010 Gut homing receptor beta subunit (human) hITGB7 protein ITGB7 PR:P26010 Category=organism-gene. integrin beta-7 (human) A progranulin that is encoded in the genome of human. UniProtKB:P28799 GP88 (human) PC cell-derived growth factor (human) PCDGF (human) PEPI (human) PGRN (human) acrogranin (human) epithelin precursor (human) glycoprotein 88 (human) glycoprotein of 88 Kda (human) granulin precursor (human) hGRN proepithelin (human) protein GRN PR:P28799 Category=organism-gene. progranulin (human) An ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 that is encoded in the genome of human. Reactome:R-HSA-8938080 UniProtKB:P28907 2'-phospho-ADP-ribosyl cyclase (human) 2'-phospho-ADP-ribosyl cyclase/2'-phospho-cyclic-ADP-ribose transferase (human) 2'-phospho-cyclic-ADP-ribose transferase (human) ADP-ribosyl cyclase 1 (human) ADPRC 1 (human) T10 (human) cADPr hydrolase 1 (human) cyclic ADP-ribose hydrolase 1 (human) hCD38 protein CD38 PR:P28907 Category=organism-gene. ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (human) A CCN family member 2 that is encoded in the genome of human. UniProtKB:P29279 IBP-8 (human) IGF-binding protein 8 (human) IGFBP-8 (human) cellular communication network factor 2 (human) connective tissue growth factor (human) hCCN2 hypertrophic chondrocyte-specific protein 24 (human) insulin-like growth factor-binding protein 8 (human) protein CCN2 CTGF HCS24 IGFBP8 PR:P29279 Category=organism-gene. CCN family member 2 (human) A carcinoembryonic antigen-related cell adhesion molecule 8 that is encoded in the genome of human. UniProtKB:P31997 CD66b (human) CD67 antigen (human) carcinoembryonic antigen CGM6 (human) hCEACAM8 non-specific cross-reacting antigen NCA-95 (human) protein CEACAM8 CGM6 PR:P31997 Category=organism-gene. carcinoembryonic antigen-related cell adhesion molecule 8 (human) A cadherin-5 that is encoded in the genome of human. UniProtKB:P33151 7B4 antigen (human) CD144 (human) VE-cadherin (human) hCDH5 vascular endothelial cadherin (human) protein CDH5 PR:P33151 Category=organism-gene. cadherin-5 (human) A macrosialin that is encoded in the genome of human. gp110 (human) UniProtKB:P34810 hCD68 protein CD68 PR:P34810 Category=organism-gene. macrosialin (human) An alpha-1A adrenergic receptor that is encoded in the genome of human. DTO:02100027 Reactome:R-HSA-390669 UniProtKB:P35348 alpha-1A adrenoceptor (human) alpha-1A adrenoreceptor (human) alpha-1C adrenergic receptor (human) alpha-adrenergic receptor 1c (human) hADRA1A protein ADRA1A ADRA1C PR:P35348 Category=organism-gene. alpha-1A adrenergic receptor (human) A vascular endothelial growth factor receptor 2 that is encoded in the genome of human. DTO:03100560 UniProtKB:P35968 CD309 (human) FLK-1 (human) VEGFR-2 (human) fetal liver kinase 1 (human) hKDR kinase insert domain receptor (human) protein-tyrosine kinase receptor flk-1 (human) protein FLK1 KDR VEGFR2 PR:P35968 Category=organism-gene. vascular endothelial growth factor receptor 2 (human) A DNA-binding protein inhibitor ID-1 that is encoded in the genome of human. Reactome:R-HSA-2534101 UniProtKB:P41134 class B basic helix-loop-helix protein 24 (human) hID1 inhibitor of DNA binding 1 (human) inhibitor of differentiation 1 (human) protein BHLHB24 ID ID1 PR:P41134 Category=organism-gene. DNA-binding protein inhibitor ID-1 (human) An extracellular calcium-sensing receptor that is encoded in the genome of human. DTO:02100050 UniProtKB:P41180 CaR (human) CaSR (human) hCASR hCasR parathyroid cell calcium-sensing receptor 1 (human) protein CASR GPRC2A PCAR1 PR:P41180 Category=organism-gene. extracellular calcium-sensing receptor (human) A C-C chemokine receptor type 2 that is encoded in the genome of human. DTO:02100054 Reactome:R-HSA-2976755 UniProtKB:P41597 C-C CKR-2 (human) CC-CKR-2 (human) CCR-2 (human) CD192 (human) MCP-1-R (human) hCCR2 monocyte chemoattractant protein 1 receptor (human) protein CCR2 CMKBR2 PR:P41597 Category=organism-gene. C-C chemokine receptor type 2 (human) A cathepsin K that is encoded in the genome of human. cathepsin X (human) UniProtKB:P43235 cathepsin O2 (human) hCTSK protein CTSK CTSO CTSO2 cathepsin O (human) PR:P43235 Category=organism-gene. cathepsin K (human) A Rap1 GTPase-activating protein 1 that is encoded in the genome of human. Reactome:R-HSA-392493 UniProtKB:P47736 Rap1GAP (human) Rap1GAP1 (human) hRAP1GAP protein KIAA0474 RAP1GA1 RAP1GAP PR:P47736 Category=organism-gene. Rap1 GTPase-activating protein 1 (human) A CCAAT/enhancer-binding protein alpha that is encoded in the genome of human. Reactome:R-HSA-381289 UniProtKB:P49715 C/EBP alpha (human) hCEBPA protein CEBP CEBPA PR:P49715 Category=organism-gene. CCAAT/enhancer-binding protein alpha (human) A regulator of G-protein signaling 6 that is encoded in the genome of human. Reactome:R-HSA-939789 UniProtKB:P49758 S914 (human) hRGS6 protein RGS6 PR:P49758 Category=organism-gene. regulator of G-protein signaling 6 (human) A neuronal membrane glycoprotein M6-a that is encoded in the genome of human. UniProtKB:P51674 hGPM6A protein GPM6A M6A PR:P51674 Category=organism-gene. neuronal membrane glycoprotein M6-a (human) A C-C chemokine receptor type 3 that is encoded in the genome of human. DTO:02100055 Reactome:R-HSA-373106 UniProtKB:P51677 C C CKR3 (human) C-C CKR-3 (human) CC-CKR-3 (human) CCR-3 (human) CD193 (human) CKR 3 (human) CKR3 (human) eosinophil eotaxin receptor (human) hCCR3 protein CCR3 CMKBR3 PR:P51677 Category=organism-gene. C-C chemokine receptor type 3 (human) An alpha-N-acetylglucosaminidase that is encoded in the genome of human. UniProtKB:P54802 N-acetyl-alpha-glucosaminidase (human) NAG (human) hNAGLU protein NAGLU UFHSD1 PR:P54802 Category=organism-gene. alpha-N-acetylglucosaminidase (human) A V(D)J recombination-activating protein 2 that is encoded in the genome of human. Reactome:R-HSA-5692675 UniProtKB:P55895 RAG-2 (human) hRAG2 protein RAG2 PR:P55895 Category=organism-gene. V(D)J recombination-activating protein 2 (human) A visual system homeobox 2 that is encoded in the genome of human. UniProtKB:P58304 Ceh-10 homeodomain-containing homolog (human) hVSX2 homeoboInOwlx protein CHX10 (human) protein CHX10 HOX10 VSX2 PR:P58304 Category=organism-gene. visual system homeobox 2 (human) A neutrophil gelatinase-associated lipocalin that is encoded in the genome of human. p25 (human) UniProtKB:P80188 25 kDa alpha-2-microglobulin-related subunit of MMP-9 (human) hLCN2 lipocalin-2 (human) oncogene 24p3 (human) siderocalin (human) protein HNL LCN2 NGAL PR:P80188 Category=organism-gene. neutrophil gelatinase-associated lipocalin (human) A nuclear factor NF-kappa-B p100 subunit that is encoded in the genome of human. Reactome:R-HSA-2677931 UniProtKB:Q00653 DNA-binding factor KBF2 (human) H2TF1 (human) hNFKB2 lymphocyte translocation chromosome 10 protein (human) nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (human) oncogene Lyt-10 (human) protein LYT10 NFKB2 PR:Q00653 Category=organism-gene. nuclear factor NF-kappa-B p100 subunit (human) An interleukin-5 receptor subunit alpha that is encoded in the genome of human. UniProtKB:Q01344 CD125 (human) CDw125 (human) IL-5 receptor subunit alpha (human) IL-5R subunit alpha (human) IL-5R-alpha (human) IL-5RA (human) hIL5RA protein IL5R IL5RA PR:Q01344 Category=organism-gene. interleukin-5 receptor subunit alpha (human) A paired box protein PAX-5 that is encoded in the genome of human. Reactome:R-HSA-158583 UniProtKB:Q02548 B-cell-specific transcription factor (human) BSAP (human) hPAX5 protein PAX5 PR:Q02548 Category=organism-gene. paired box protein Pax-5 (human) A urokinase plasminogen activator surface receptor that is encoded in the genome of human. UniProtKB:Q03405 CD87 (human) U-PAR (human) hPLAUR monocyte activation antigen Mo3 (human) protein MO3 PLAUR UPAR PR:Q03405 Category=organism-gene. urokinase plasminogen activator surface receptor (human) A collagen alpha-1(XVI) chain that is encoded in the genome of human. Reactome:R-HSA-2470831 UniProtKB:Q07092 hCOL16A1 protein COL16A1 FP1572 PR:Q07092 Category=organism-gene. collagen alpha-1(XVI) chain (human) A transmembrane emp24 domain-containing protein 1 that is encoded in the genome of human. UniProtKB:Q13445 Tp24 (human) hTMED1 interleukin-1 receptor-like 1 ligand (human) p24 family protein gamma-1 (human) p24gamma1 (human) putative T1/ST2 receptor-binding protein (human) protein IL1RL1L IL1RL1LG TMED1 PR:Q13445 Category=organism-gene. transmembrane emp24 domain-containing protein 1 (human) An adhesion G protein-coupled receptor E1 that is encoded in the genome of human. DTO:02100089 UniProtKB:Q14246 EGF-like module receptor 1 (human) EGF-like module-containing mucin-like hormone receptor-like 1 (human) EMR1 hormone receptor (human) hADGRE1 protein ADGRE1 EMR1 TM7LN3 PR:Q14246 Category=organism-gene. adhesion G protein-coupled receptor E1 (human) A sonic hedgehog protein that is encoded in the genome of human. UniProtKB:Q15465 HHG-1 (human) Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains (human) ShhNC (human) hSHH protein SHH PR:Q15465 Category=organism-gene. sonic hedgehog protein (human) An adiponectin that is encoded in the genome of human. UniProtKB:Q15848 30 kDa adipocyte complement-related protein (human) adipocyte complement-related 30 kDa protein (human) adipocyte, C1q and collagen domain-containing protein (human) adipose most abundant gene transcript 1 protein (human) apM-1 (human) gelatin-binding protein (human) hADIPOQ protein ACDC ACRP30 ADIPOQ APM1 GBP28 PR:Q15848 Category=organism-gene. adiponectin (human) A hypoxia-inducible factor 1-alpha that is encoded in the genome of human. Reactome:R-HSA-1234102 Reactome:R-HSA-1234135 UniProtKB:Q16665 ARNT-interacting protein (human) HIF-1-alpha (human) HIF1-alpha (human) PAS domain-containing protein 8 (human) basic-helix-loop-helix-PAS protein MOP1 (human) class E basic helix-loop-helix protein 78 (human) hHIF1A member of PAS protein 1 (human) protein BHLHE78 HIF1A MOP1 PASD8 PR:Q16665 Category=organism-gene. hypoxia-inducible factor 1-alpha (human) A coiled-coil domain-containing protein 102B that is encoded in the genome of human. UniProtKB:Q68D86 hCCDC102B protein C18orf14 CCDC102B PR:Q68D86 Category=organism-gene. coiled-coil domain-containing protein 102B (human) A multiple C2 and transmembrane domain-containing protein 1 that is encoded in the genome of human. UniProtKB:Q6DN14 hMCTP1 protein MCTP1 PR:Q6DN14 Category=organism-gene. multiple C2 and transmembrane domain-containing protein 1 (human) An extracellular sulfatase Sulf-1 that is encoded in the genome of human. UniProtKB:Q8IWU6 hSULF1 hSulf-1 protein KIAA1077 SULF1 PR:Q8IWU6 Category=organism-gene. extracellular sulfatase Sulf-1 (human) A putative thiamine transporter SLC35F3 that is encoded in the genome of human. UniProtKB:Q8IY50 hSLC35F3 solute carrier family 35 member F3 (human) protein SLC35F3 PR:Q8IY50 Category=organism-gene. putative thiamine transporter SLC35F3 (human) A solute carrier family 4 member 11 that is encoded in the genome of human. UniProtKB:Q8NBS3 NaBC1 (human) hSLC4A11 sodium borate cotransporter 1 (human) protein BTR1 SLC4A11 PR:Q8NBS3 Category=organism-gene. solute carrier family 4 member 11 (human) A choline transporter-like protein 5 that is encoded in the genome of human. Reactome:R-HSA-444459 UniProtKB:Q8NCS7 hSLC44A5 solute carrier family 44 member 5 (human) protein CTL5 SLC44A5 PR:Q8NCS7 Category=organism-gene. choline transporter-like protein 5 (human) A prospero homeobox protein 1 that is encoded in the genome of human. UniProtKB:Q92786 PROX-1 (human) hPROX1 homeoboInOwlx prospero-like protein PROX1 (human) protein PROX1 PR:Q92786 Category=organism-gene. prospero homeobox protein 1 (human) A hepatitis A virus cellular receptor 1 that is encoded in the genome of human. TIM (human) UniProtKB:Q96D42 CD365 (human) HAVcr-1 (human) KIM-1 (human) T-cell immunoglobulin and mucin domain-containing protein 1 (human) T-cell immunoglobulin mucin receptor 1 (human) T-cell membrane protein 1 (human) TIM-1 (human) TIMD-1 (human) hHAVCR1 kidney injury molecule 1 (human) protein HAVCR1 KIM1 TIM1 TIMD1 PR:Q96D42 Category=organism-gene. hepatitis A virus cellular receptor 1 (human) A 2-acylglycerol O-acyltransferase 1 that is encoded in the genome of human. Reactome:R-HSA-6800325 UniProtKB:Q96PD6 MGAT1 (human) acyl-CoA:monoacylglycerol acyltransferase 1 (human) diacylglycerol O-acyltransferase candidate 2 (human) diacylglycerol acyltransferase 2-like protein 1 (human) hDC2 hMOGAT1 monoacylglycerol O-acyltransferase 1 (human) protein DC2 DGAT2L1 MOGAT1 PR:Q96PD6 Category=organism-gene. 2-acylglycerol O-acyltransferase 1 (human) A sodium channel protein type 2 subunit alpha that is encoded in the genome of human. DTO:01100291 Reactome:R-HSA-443377 UniProtKB:Q99250 HBSC II (human) hSCN2A sodium channel protein brain II subunit alpha (human) sodium channel protein type II subunit alpha (human) voltage-gated sodium channel subunit alpha Nav1.2 (human) protein NAC2 SCN2A SCN2A1 SCN2A2 PR:Q99250 Category=organism-gene. sodium channel protein type 2 subunit alpha (human) A protein FEV that is encoded in the genome of human. UniProtKB:Q99581 PC12 ETS domain-containing transcription factor 1 (human) PC12 ETS factor 1 (human) Pet-1 (human) fifth Ewing variant protein (human) hFEV protein FEV PET1 PR:Q99581 Category=organism-gene. protein FEV (human) A fibroblast growth factor 23 that is encoded in the genome of human. UniProtKB:Q9GZV9 FGF-23 (human) hFGF23 phosphatonin (human) tumor-derived hypophosphatemia-inducing factor (human) protein FGF23 HYPF UNQ3027/PRO9828 PR:Q9GZV9 Category=organism-gene. fibroblast growth factor 23 (human) An adipocyte adhesion molecule that is encoded in the genome of human. UniProtKB:Q9H6B4 CAR-like membrane protein (human) adipocyte adhesion molecule (human) coxsackie- and adenovirus receptor-like membrane protein (human) hCLMP protein ACAM ASAM CLMP UNQ318/PRO363 PR:Q9H6B4 Category=organism-gene. CXADR-like membrane protein (human) A transcription factor SOX-17 that is encoded in the genome of human. Reactome:R-HSA-5625834 UniProtKB:Q9H6I2 hSOX17 protein SOX17 PR:Q9H6I2 Category=organism-gene. transcription factor SOX-17 (human) A roundabout homolog 2 that is encoded in the genome of human. UniProtKB:Q9HCK4 hROBO2 protein KIAA1568 ROBO2 PR:Q9HCK4 Category=organism-gene. roundabout homolog 2 (human) A klotho that is encoded in the genome of human. UniProtKB:Q9UEF7 hKL protein KL PR:Q9UEF7 Category=organism-gene. klotho (human) A netrin-G1 that is encoded in the genome of human. UniProtKB:Q9Y2I2 hNTNG1 laminet-1 (human) protein KIAA0976 LMNT1 NTNG1 UNQ571/PRO1133 PR:Q9Y2I2 Category=organism-gene. netrin-G1 (human) A tumor necrosis factor receptor superfamily member 11A that is encoded in the genome of human. UniProtKB:Q9Y6Q6 CD265 (human) ODFR (human) hTNFRSF11A osteoclast differentiation factor receptor (human) receptor activator of NF-KB (human) protein RANK TNFRSF11A PR:Q9Y6Q6 Category=organism-gene. tumor necrosis factor receptor superfamily member 11A (human) A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism. exposure event or process A material entity consisting of multiple components that are causally integrated. May be replaced by a BFO class, as discussed in http://www.jbiomedsem.com/content/4/1/43 Chris Mungall http://www.jbiomedsem.com/content/4/1/43 system region A sequence_feature with an extent greater than zero. A nucleotide region is composed of bases and a polypeptide region is composed of amino acids. primary structure of sequence macromolecule sequence sequence region protein-coding sequence SO:0000010 Category=external. protein_coding An extent of biological sequence. Any extent of continuous biological sequence. INSDC_feature:misc_feature INSDC_note:other INSDC_note:sequence_feature located_sequence_feature sequence feature sequence located sequence feature SO:0000110 sequence_feature The point at which one or more contiguous nucleotides were excised. deleted_sequence nucleotide deletion nucleotide_deletion deletion A deviation in chromosome structure or number. chromosome variation chromosome_variation A gene that is engineered. engineered gene sequence SO:0000280 engineered_gene An attribute describes a quality of sequence. sequence attribute sequence_attribute signal peptide sequence signal SO:0000418 The signal peptide can be cleaved either co- or post-translationally. For this reason, we do not use the derives_from relation when defining protein forms lacking the signal peptide (because the precursor form might not yet exist at the time of removal). signal_peptide A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. INSDC_feature:gene sequence SO:0000704 gene An attribute describing a located_sequence_feature. feature attribute feature_attribute A genome is the sum of genetic material within a cell or virion. genome A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. INSDC_feature:misc_feature INSDC_feature:variation INSDC_note:sequence_alteration sequence alteration partially characterised change in DNA sequence partially_characterised_change_in_DNA_sequence uncharacterised_change_in_nucleotide_sequence sequence variation sequence_alteration protein coding gene sequence SO:0001217 protein_coding_gene A region containing at least one unique origin of replication and a unique termination site. replicon A collection of discontinuous sequences. sequence collection sequence_collection A region defined by its disposition to be involved in a biological process. INSDC_misc_feature INSDC_note:biological_region biological region biological_region SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. single nucleotide variant SNV A collection of sequences (often chromosomes) of an individual. variant genome variant_genome A collection of one or more sequences of an individual. variant collection variant_collection An attribute of alteration of one or more chromosomes. alteration attribute alteration_attribute An attribute of a change in the structure or number of a chromosomes. chromosomal variation attribute chromosomal_variation_attribute A change in chromosomes that occurs between two separate chromosomes. intrachromosomal When a genome contains an abnormal amount of chromosomes. chromosomally aberrant genome chromosomally_aberrant_genome A position or feature where two sequences have been compared. INSDC_feature:misc_feature INSDC_note:sequence_comparison sequence comparison sequence_comparison A collection of related genes. gene group gene_group A sequence alteration where the length of the change in the variant is the same as that of the reference. substitution A single nucleotide change which has occurred at the same position of a corresponding nucleotide in a reference sequence. point mutation point_mutation A chromosomal structure variation within a single chromosome. intrachromosomal mutation intrachromosomal_mutation An incomplete chromosome. chromosomal deletion deficiency (Drosophila)Df (bacteria)&ampDgr; (fungi)D chromosomal_deletion An alteration of the genome that leads to a change in the structure or number of one or more chromosomes. chromosome structure variation snpEff:CHROMOSOME_LARGE_DELETION chromosome_structure_variation An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. BFO:0000003 uberon UBERON:0000000 processual entity Lower, narrow portion of the uterus where it joins with the top end of the vagina. cervix canalis cervicis uteri caudal segment of uterus cervical canal of uterus cervix uteri neck of uterus uterine cervix cervical canal cervix of uterus uterine cervix The olfactory organ of vertebrates, consisting of nares, olfactory epithelia and the structures and skeletal framework of the nasal cavity. nasal sac nose peripheral olfactory organ nasus olfactory apparatus proboInOwlscis nose the clusters of hormone-producing cells that are scattered throughout the pancreas pancreatic insula pancreatic islet island of Langerhans island of pancreas islets of Langerhans islet of Langerhans The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]. Hp glandula pituitaria pituitary pituitary body hypophysis hypophysis cerebri pituitary gland A major division of the nervous system that contains nerves which connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. Nervous structures including ganglia outside of the central nervous system. Kimmel et al, 1995.[TAO] Part of nervous system in which nerves extend throughout the body outside of the brain and spinal cord.[AAO] The peripheral nervous system (PNS) is the part of the nervous system connected to the CNS which contains cranial nerves III - XII, spinal, peripheral and autonomic nerves. (CUMBO) (...) specific vertebrate traits within the chordate phylum such as skeletal tissues, PNS, and spectacular head and brain development, are linked to the NC (neural crest) and its derivatives.[well established][VHOG] PNS AAO:0000429 BAMS:PNS BILA:0000081 BIRNLEX:1111 BTO:0001028 CALOHA:TS-0808 EFO:0000891 EHDAA2:0001445 EHDAA:2893 EMAPA:16665 EV:0100335 FBbt:00005098 FMA:9903 GAID:715 MA:0000218 MAT:0000338 MESH:D017933 MIAA:0000338 NCIT:C12465 SCTID:362292005 TAO:0000142 UMLS:C0206417 UMLS:C1305921 VHOG:0000399 Wikipedia:Peripheral_nervous_system XAO:0000178 ZFA:0000142 neuronames:3232 pars peripherica systema nervosum periphericum uberon UBERON:0000010 peripheral nervous system http://upload.wikimedia.org/wikipedia/commons/b/ba/Nervous_system_diagram.png Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis. Note the distinction between the entire skin of the body, of which there is only 1 in an organism, and zones of skin, of which there can be many. Examples: skin of knee (...) it is well-established that neural crest cells contribute to both the dermal skeleton (craniofacial bone, teeth, and the caudal fin rays of teleosts) and the integument, including craniofacial dermis and all pigment cells outside the retina (...).[well established][VHOG] we assume that mouse, HOG and GAID all mean zone of skin when they say skin. We also choose skin as an exact synonym, as it is more intuitive EHDAA2:0001844 EHDAA:6530 EMAPA:17525 EV:0100152 FMA:86166 GAID:933 MA:0000151 MAT:0000284 MESH:D012867 MIAA:0000284 OpenCyc:Mx4rvVjX3ZwpEbGdrcN5Y29ycA VHOG:0000860 portion of skin region of skin skin skin region skin zone uberon UBERON:0000014 zone of skin A non-material anatomical entity of two dimensions. Anatomical boundaries are contiguous structures. AEO:0000192 CARO:0000010 FMA:50705 anatomical boundary uberon UBERON:0000015 Except in the case of abstracted fiat boundaries such as the midline plane of an organism, all 2D anatomical entities have a 3 dimensional projection. For example, the surface of the shell of a muscle has a distinct shape that projects into the third dimension. Note that boundaries are 2D structures. They have no thickness - and so can not be sites of gene expression or gene product localisation. For this, use boundary region terms. anatomical boundary non-material anatomical boundary The part of the pancreas that is part of the endocrine system and is made up of islet cells, which produce insulin, glucagon and somatostatin. endocrine pancreas pars endocrina pancreatis endocrine part of pancreas islets of Langerhans part of pancreas endocrine pancreas The part of the pancreas that is part of the exocrine system and which produces and store zymogens of digestive enzymes, such as chymotrypsinogen and trypsinogen in the acinar cells [GO]. exocrine pancreas pars exocrina pancreatis exocrine component of pancreas exocrine part of pancreas exocrine pancreas An organ of sight that includes the camera-type eyeball and supporting structures such as the lacrimal apparatus, the conjunctiva, the eyelid. eye regio orbitalis vertebrate eye camera-type eye plus associated structures eyes orbital part of face orbital region camera-type eye An organ that is capable of transducing sensory stimulus to the nervous system. organ of sense organ system organ of sensory organ system organ of sensory system sense organ system organ sensory organ sensory organ system organ sensory system organ sensillum Sinnesorgan sensor sense organ Anatomical projection that protrudes from the skin. Examples: hair, nail, feather, claw, hoof, horn, wattle, spur, beak, antler, bristle and some scales. skin appendage epidermal appendage epidermal growth cutaneous appendage Any hollow cylindrical anatomical structure containing a lumen through which substances are transported. not every anatomical conduit is a tube - for example, a bone foramen is an opening in the bone, and there is no distinct separate tube structure. Tubes may transport large mixed objects (for example, a bolus of food in the digestive tube) or they may transport the secretions of a single gland (for example, gland ducts) tubular galen:Tube anatomical tube duct uberon UBERON:0000025 tube Major subdivision of an organism that protrudes from the body[DOS, CARO]. An appendage is an external body part, or natural prolongation, that protrudes from an organism's body, such as a vertebrate's limbs[BILA][BILA:0000018]. Organ or organ part that is attached to the body of an organism. For example a limb[GO, modified][GO:0048736]. appendicular this is currently a subtype of organism subdivision - which would exclude feathers AEO:0000193 BILA:0000018 BTO:0001492 CARO:0010003 EFO:0000799 EHDAA2:0003193 EMAPA:37283 EV:0100155 FBbt:00007000 HAO:0000144 MAT:0000023 MESH:D005121 MIAA:0000023 NCIT:C61460 OpenCyc:Mx4rvViC-JwpEbGdrcN5Y29ycA UMLS:C0598782 VSAO:0000075 Wikipedia:Appendage XAO:0000218 uberon appendages extremitaet extremity limbs/digits/tail UBERON:0000026 appendage The head is the anterior-most division of the body [GO]. Organism subdivision that is the part of the body consisting of the cranial and pharyngeal regions.[AAO] Organism subdivision which is the part of the body which consists of the cranial and pharygeal regions.[TAO] Vertebrate evolution has been characterized by a fresh and vast array of cranial structures that collectively form the head.[well established][VHOG] AAO:0010335 AEO:0000106 BILA:0000115 BIRNLEX:1230 BTO:0000282 CALOHA:TS-0436 EFO:0000964 EHDAA2:0003106 EMAPA:31858 FBbt:00000004 FMA:7154 GAID:61 HAO:0000397 MA:0000023 MAT:0000294 MESH:D006257 MIAA:0000294 NCIT:C12419 OpenCyc:Mx4rEOLm4rgPEdmAAAACs6hRjg OpenCyc:Mx4rvVi6YJwpEbGdrcN5Y29ycA SCTID:302548004 SPD:0000016 TAO:0001114 TGMA:0000002 UMLS:C0018670 VHOG:0001644 WBbt:0005739 Wikipedia:Head XAO:0003024 ZFA:0001114 galen:Head head (volume) adult head uberon cephalic area UBERON:0000033 head Multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer. multi-tissue structure that is comprised of a secretory epithelial layer (mesothelium) and a connective tissue layer. A multi-tissue structure that is comprised of a secretory epithelial layer and a connective tissue layer.[TAO] a smooth membrane consisting of a thin layer of cells which excrete serous fluid. Serous membranes line and enclose several body cavities, known as serous cavities, where they secrete a lubricating fluid which reduces friction from muscle movement. Serosa is not to be confused with adventitia, a connective tissue layer which binds together structures rather than reducing friction between them. Each serous membrane is composed of a secretory epithelial layer and a connective tissue layer underneath. The epithelial layer, known as mesothelium, consists of a single layer of avascular flat nucleated cells (cuboidal epithelium) which produce the lubricating serous fluid. This fluid has a consistency similar to thin mucus. These cells are bound tightly to the underlying connective tissue. The connective tissue layer provides the blood vessels and nerves for the overlying secretory cells, and also serves as the binding layer which allows the whole serous membrane to adhere to organs and other structures.[WP] in FMA, SM = mesothelium + connective tissue. It excludes the cavity. Serous sac = SM + cavity. Note that the SM is a subtype of wall in FMA. FMA:9581 GAID:19 MESH:D012704 NCIT:C13169 SCTID:362878009 TAO:0005425 UMLS:C0036760 Wikipedia:Serous_membrane ZFA:0005425 tunica serosa wall of serous sac uberon serosa UBERON:0000042 serous membrane http://upload.wikimedia.org/wikipedia/commons/4/4e/Ens.png http://upload.wikimedia.org/wikipedia/en/thumb/4/4e/Ens.png/200px-Ens.png Dense regular connective tissue that connects muscle to bone[VSAO]. sinew tendo tendon A biological tissue mass, most commonly a mass of nerve cell bodies. ganglia neural ganglion ganglion An eye with one concave chamber. Note that 'simple' does not imply a reduced level of complexity or acuity. simple eye A tubular structure that contains, conveys body fluid, such as blood or lymph. uberon UBERON:0000055 vessel Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. Anatomical structure consisting of long narrow duct which carries urine from the kidney to the urinary bladder.[AAO] The duct of amniotes that carries urine from a metanephric kidney to the urinary bladder. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] The first embryonic hint of a metanephros is the formation of the metanephric duct that appears as a ureteric diverticulum arising at the base of preexisting mesonephric duct. The ureteric diverticulum grows dorsally into the posterior region of the nephric ridge. Here it enlarges and stimulates the growth of metanephric tubules that come to make up the metanephric kidney. The metanephros becomes the adult kidney of amniotes, and the metanephric duct is usually called the ureter.[well established][VHOG] ureteral ureteric in humans, consists of adventitial, muscular and mucoa layers AAO:0010254 BTO:0001409 CALOHA:TS-1084 EFO:0000930 EHDAA2:0002139 EHDAA:9341 EMAPA:17950 EV:0100097 FMA:9704 GAID:438 MA:0000378 MAT:0000120 MESH:D014513 MIAA:0000120 NCIT:C12416 SCTID:302511008 UMLS:C0041951 VHOG:0000605 Wikipedia:Ureter XAO:0000144 galen:Ureter uberon metanephric duct UBERON:0000056 ureter https://upload.wikimedia.org/wikipedia/commons/3/30/Urinary_system.svg The fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening. the fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening urethral In human males, the urethra travels through the penis, and carries semen as well as urine. In females, the urethra is shorter and emerges above the vaginal opening. BTO:0001426 CALOHA:TS-1132 EFO:0000931 EMAPA:30901 EV:0100099 FMA:19667 GAID:390 MA:0000379 MAT:0000121 MESH:D014521 MIAA:0000121 NCIT:C12417 SCTID:302513006 UMLS:C0041967 VHOG:0001264 Wikipedia:Urethra XAO:0000153 galen:Urethra uberon UBERON:0000057 urethra https://upload.wikimedia.org/wikipedia/commons/c/cb/Female_anatomy.png A tubular structure that transports secreted or excreted substances. A tube shaped portion of tissue lined with epithelial cells that collects secretions and routes them to their destination[ZFA:0005171]. Most ducts, but not all, are exocrine gland ducts. Some ontologies classify structures such as the oviduct here. AAO:0011123 FBbt:00100314 FMA:30320 NCIT:C12948 SCTID:91726008 TAO:0005171 UMLS:C0687028 Wikipedia:Duct_(anatomy) XAO:0004000 ZFA:0005171 galen:Duct anatomical duct exocrine duct exocrine gland duct uberon ducts UBERON:0000058 duct Organ component adjacent to an organ cavity and which consists of a maximal aggregate of organ component layers. in FMA, serosa is a wall UBERON:0009915 wall EMAPA:25036 FMA:82482 galen:Wall wall of organ uberon organ wall UBERON:0000060 anatomical wall Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. AAO:0010825 AEO:0000003 BILA:0000003 CARO:0000003 EHDAA2:0003003 EMAPA:0 FBbt:00007001 FMA:305751 FMA:67135 GAID:781 HAO:0000003 MA:0003000 MESH:D000825 SCTID:362889002 TAO:0000037 TGMA:0001823 VHOG:0001759 WBbt:0000100 XAO:0003000 ZFA:0000037 http://dbpedia.org/ontology/AnatomicalStructure biological structure connected biological structure uberon UBERON:0000061 anatomical structure Anatomical structure that performs a specific function or group of functions [WP]. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. CARO v1 does not include a generic 'organ' class, only simple and compound organ. CARO v2 may include organ, see https://github.com/obophenotype/caro/issues/4 BIRNLEX:4 CARO:0020004 EFO:0000634 EMAPA:35949 ENVO:01000162 FMA:67498 MA:0003001 NCIT:C13018 OpenCyc:Mx4rv5XMb5wpEbGdrcN5Y29ycA OpenCyc:Mx4rwP3iWpwpEbGdrcN5Y29ycA SCTID:272625005 UMLS:C0178784 WBbt:0003760 Wikipedia:Organ_(anatomy) uberon anatomical unit body organ element UBERON:0000062 organ A part of an organ that constitutes a distinct modular sub-unit. In some cases, the organ may also contain other sub-units of identical or similar types, in other cases this may be a distinct entity. FMA distinguishes segment from zone by whether the fiat boundaries are fixed/anchored (segments) or floating (zone). It's not completely clear how to apply this distinction Organ region with one or more anchored fiat boundaries. Examples: artery, trunk of nerve, cervical part of esophagus, pelvic part of vagina, horn of thyroid cartilage, anterior segment of eyeball. Organ region with one or more fixed or anchored fiat boundaries. Examples: artery, trunk of nerve, cervical part of esophagus, pelvic part of vagina, horn of thyroid cartilage, anterior segment of eyebal. FMA:86140 uberon organ region with fixed fiat boundary organ segment segment of organ UBERON:0000063 organ subunit A multicellular structure that is a part of an organ. currently defined in a very broad sense, may be replaced by more specific classes in the future AAO:0011124 BIRNLEX:16 EFO:0000635 FMA:82472 SCTID:113343008 SCTID:91717005 cardinal organ part uberon regional part of organ UBERON:0000064 organ part Anatomical structure that is part of the respiratory system. In mammals consists of upper and lower tracts respiratory tract The stage of development at which the animal is fully formed, including immaturity and maturity. Includes both sexually immature stage, and adult stage. adult stage BTO:0001043 BilaDO:0000004 EFO:0001272 FBdv:00005369 WBls:0000041 XtroDO:0000084 fully formed animal stage juvenile-adult stage uberon UBERON:0000066 fully formed stage https://github.com/obophenotype/uberon/issues/566 A stage that is part of the embryo stage. embryonic stage part uberon UBERON:0000067 embryo stage part A life cycle stage that starts with fertilization and ends with the fully formed embryo. BilaDO:0000002 EV:0300001 FBdv:00005289 FMA:72652 HsapDv:0000002 MmusDv:0000002 OGES:000000 OGES:000022 SCTID:296280003 WBls:0000003 WBls:0000092 WBls:0000102 XAO:1000012 embryonic stage uberon embryogenesis UBERON:0000068 embryo stage End of the life of an organism. ncit:Death is an outcome XAO:0000437 XtroDO:0000085 uberon death UBERON:0000071 death stage An section of a respiratory tract. respiratory tract subdivision of respiratory tract proximo-distal subdivision of respiratory tract Any part or collection of parts of the central or peripheral nervous system. Parts may span both CNS and PNS. part of nervous system regional part of nervous system A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. ZFA - The multi-tissue structure where the glomerular basement membrane supported by mesonephric podocytes filters blood from the glomerular capillaries. GUDMAP: 'Together, the Bowman's capsule and the glomerulus comprise the definitive renal corpuscle.' - here the glomerulus is part of the capsule? 2009-06-18T09:26:37Z glomerulus BTO:0000530 CALOHA:TS-0862 EFO:0003667 EMAPA:28329 EV:0100386 FMA:15624 MA:0001657 MESH:D007678 NCIT:C13250 SCTID:362217000 TAO:0001288 UMLS:C0022663 Wikipedia:Glomerulus ZFA:0001288 renal glomeruli uberon Malphigian glomerulus Malpighian glomerulus Malpighian tuft glomerular capillary tuft glomerular tuft glomerulus renis renal corpuscle UBERON:0000074 renal glomerulus http://upload.wikimedia.org/wikipedia/commons/3/30/Gray1130.svg https://upload.wikimedia.org/wikipedia/commons/2/22/Renal_corpuscle.svg Anatomical cluster consisting of the skeletal elements and articular elements that are part of an individual subdivision of the organism. UBERON:0010322 FMA:85544 NCIT:C34076 SCTID:118966000 UMLS:C1519343 galen:ComplexSkeletalStructure skeletal system subdivision uberon skeletal system part UBERON:0000075 subdivision of skeletal system The surface (external) layer of ectoderm which begins to proliferate shortly after separation from the neuroectoderm. merge with non-neural. In vertebrates, the ectoderm has three parts: external ectoderm (also known as surface ectoderm), the neurectoderm (neural crest, and neural tube) (or external ectoderm) forms the following structures: Skin Epithelium of the mouth and nasal cavity saliavary glands, and glands of mouth and nasal cavity Enamel - as a side note dentin and dental pulp are formed from ectomesenchyme which is derived from ectoderm Epithelium of pineal and pituitary glands Lens and cornea of the eye Apical ectodermal ridge inducing development of the limb buds of the embryo. Sensory receptors in epidermis EHDAA2:0001968 EHDAA:1494 EHDAA:350 EHDAA:4784 EHDAA:4790 EHDAA:4796 EHDAA:7860 EMAPA:16096 FMA:87656 UMLS:C1515087 surface (external) ectoderm surface ectoderm uberon UBERON:0000076 external ectoderm An anatomical structure that develops from the endoderm and the mesoderm. mixed endoderm/mesoderm-derived structure The organs associated with producing offspring in the gender that produces spermatozoa. genitalia of male organism male genital system male genitalia male genitals male organism genitalia male organism reproductive system reproductive system of male organism male genital organ male genital tract male reproductive tract systema genitale masculinum male reproductive system The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. A kidney formed of nephric tubules arising in the middle region of the nephric ridge; a transient embryonic stage that replaces the pronephros, but is itself replaced by the adult metanephros [in mammals; in fishes and amphibians it is the adult kidney]. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.745][VHOG] Organ that is the definitive adult kidney. It replaces the earlier pronephros, which degenerates as the mesonephros becomes functional in feeding stage tadpoles.[AAO] As the pronephros regresses, the archinephric duct induces the sequential differentiation of tubules in the more caudal parts of the nephric ridge. (...) Tubules that differentiate in the middle part of the nephric ridge form a kidney called the mesonephros. This kidney functions in the embryos and larvae of all vertebrates. (...) In all vertebrate embryos, the kidney begins with the differentiation of a few renal tubules from the anterior end of the nephric ridge overlying the pericardial cavity. (...) This early-developing embryonic kidney is called the pronephros.[well established][VHOG] mesonephric In mammals, the mesonephros is the second of the three embryonic kidneys to be established and exists only transiently. In fish and amphibians, the mesonephros will form the mature kidney By contrast to the pronephros, the histological features of the mammalian mesonephros, with its primitive glomeruli, suggest that it probably functions as a primitive kidney, and is involved in the production of much of the amniotic fluid. Within the two mesonephroi, one located on either side of the dorsal mesentery of the hindgut, a substantial number (in the region of about 40 or more) of cranio-caudally segmented mesonephric tubules are formed. It has, however, been suggested that only the most rostrally located 4-6 pairs of mesonephric tubules drain into the mesonephric portion of the nephric duct. This is now seen to extend along the length of the mesonephroi, being located towards their lateral sides. The mesonephros is also retained over a considerably longer period than the pronephros, but gradually undergoes regression in a cranio-caudal direction. While the rostral part displays clear evidence of regression its more caudal part appears to display evidence of functional activity. Within the medial part of the mesonephros, vesicles are formed, although no glomeruli are formed there in this species. It is, however, difficult to believe that the relatively enormous mesonephroi do not have an excretory role in the mouse, only serving as a base for gonadal differentiation. In the human embryo, the medial part of the mesonephric tubules enlarges, become invaginated by capillaries, and form glomeruli. These then take on an excretory role. In the mouse, the mesonephric ducts appear to be patent throughout their length[GUDMAP, modified] AAO:0010384 BTO:0001542 CALOHA:TS-0624 EFO:0000928 EHDAA2:0001130 EHDAA:1581 EHDAA:5903 EMAPA:16744 FMA:72171 GAID:1308 MESH:D001755 NCIT:C26467 SCTID:308799002 TAO:0000529 UMLS:C0025492 VHOG:0000038 Wikipedia:Mesonephros XAO:0000141 ZFA:0000529 Wolffian body mesonephric kidney mesonephroi uberon amphibian adult kidney corpus Wolffi middle kidney opisthonephros opisto nephros opistonephros UBERON:0000080 mesonephros http://upload.wikimedia.org/wikipedia/commons/a/ad/Gray986.png In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO] In mammals, the metanephros is the excretory organ of the fetus, which develops into the mature kidney and is formed from the rear portion of the nephrogenic cord. The metanephros is an endocrine and metabolic organ that filters the blood and excretes the end products of body metabolism in the form of urine[GO]. TODO check developmental relationships A kidney formed of nephric tubules arising in the posterior region of the nephric ridge and drained by a ureter; replaces the embryonic pronephros and mesonephros [in mammals]. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.745][VHOG] The ureteric diverticulum grows dorsally into the posterior region of the nephric ridge. Here it enlarges and stimulates the growth of metanephric tubules that come to make up the metanephric kidney. The metanephros becomes the adult kidney of amniotes.[well established][VHOG] metanephric During the fifth week of gestation, the mesonephric duct develops an outpouching, the ureteric bud, near its attachment to the cloaca. This bud, also called the metanephrogenic diverticulum, grows posteriorly and towards the head of the embryo. The elongated stalk of the ureteric bud, the metanephric duct, later forms the ureter. As the cranial end of the bud extends into the intermediate mesoderm, it undergoes a series of branchings to form the collecting duct system of the kidney. It also forms the major and minor calyces and the renal pelvis BTO:0001543 EHDAA2:0001137 EHDAA:3089 EHDAA:5911 EMAPA:17373 EMAPA_RETIRED:17207 FMA:72172 NCIT:C34209 SCTID:308797000 UMLS:C0231049 VHOG:0000039 Wikipedia:Metanephros#Metanephros metanephron uberon definite kidney definitive kidney hind kidney metanephric kidney UBERON:0000081 metanephros A mesonephric tubule is an epithelial tube that is part of the mesonephros[GO]. Genital ridge that is next to the mesonephros[WP]. TODO check Any of the renal tubules composing the mesonephros. In mammals they function as excretory structures during the early embryonic development but are later incorporated into the reproductive system. [TFD][VHOG] As the pronephros regresses, the archinephric duct induces the sequential differentiation of tubules in the more caudal parts of the nephric ridge. (...) Tubules that differentiate in the middle part of the nephric ridge form a kidney called the mesonephros. This kidney functions in the embryos and larvae of all vertebrates.[well established][VHOG] AAO:0010389 EHDAA2:0001134 EMAPA:16747 VHOG:0000500 Wikipedia:Mesonephric_tubules XAO:0000148 uberon renal tubules tubuli mesonephrici UBERON:0000083 mesonephric tubule An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP] An epithelial swelling on the Wolffian duct that elongates to invade the adjacent metanephric mesenchyme[MP]. Outgrowth of the mesonephric duct that penetrates the metanephric mesoderm and forms the ureter, renal pelvis, major and minor calyces and collecting ducts. [Embryology, See_Dudek_RW_and_Fix_JD, Third_Edition_(2004)_Philadelphia:_Lippincott_William_and_Wilkins, p.137][VHOG] Outgrowth of the mesonephric duct that penetrates the metanephric mesoderm and forms the ureter, renal pelvis, major and minor calyces and collecting ducts[VHOG:0000541]. The first embryonic hint of a metanephros is the formation of the metanephric duct that appears as a ureteric diverticulum arising at the base of preexisting mesonephric duct. The ureteric diverticulum grows dorsally into the posterior region of the nephric ridge. Here it enlarges and stimulates the growth of metanephric tubules that come to make up the metanephric kidney. The metanephros becomes the adult kidney of amniotes, and the metanephric duct is usually called the ureter.[well established][VHOG] BTO:0001646 EHDAA2:0002140 EHDAA:3091 EHDAA:5917 EMAPA:17209 NCIT:C34207 SCTID:361528000 UMLS:C1284058 VHOG:0000541 Wikipedia:Ureteric_bud uberon diverticulum diverticulum metanephricum gemma ureterica metanephric bud metanephric diverticulum ureteric ampulla ureteric diverticulum UBERON:0000084 ureteric bud A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum. morula (2-16 cells) morula A glycoprotein membrane surrounding the plasma membrane of an oocyte. It is a vital constitutive part of the latter, external but not extraneous to it. The zona pellucida first appears in multilaminar primary oocytes. zona pellucida - vitelline membrane oolemma pellucid zone striated membrane vitelline envelope vitelline membrane zona radiata zona striata zona pellucida A mass of cells that develop into the body of the embryo and some extraembryonic tissues ICM early embryoblast embryoblast embryoblastus; massa cellularis interna; pluriblastus senior pluriblast inner cell mass the mesectodermal cell layer arising from the trophectoderm that erodes the uterine mucosa and contributes to the formation of the placenta trophoblast layer massa cellularis externa trophoblastus trophoderm trophoblast A flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc. embryonic disc embryonic shield germinal disc germinal disk bilaminary embryonic disc bilaminary germ disc bilaminar disk bilaminar disc Stage succeeding embryo, including mature structure. stage succeeding embryo, including mature structure In birds, the postnatal stage begins when the beak penetrates the shell (i.e., external pipping) (Brown et al. 1997) BilaDO:0000003 OGES:000010 OGES:000014 OGES:000024 WBls:0000022 WBls:0000093 WBls:0000103 postembryonic stage post-hatching stage uberon postembryonic UBERON:0000092 post-embryonic stage https://github.com/obophenotype/uberon/issues/344 Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA] Nonparenchymatous organ that primarily consists of dense connective tissue organized into a sheet which interconnects two or more organs, separates two or more body spaces from one another, or surrounds an organ or body part. Examples: interosseous membrane of forearm, obturator membrane, tympanic membrane, fibrous pericardium, fascia lata, dura mater. [FMA]. cjm 2009-07-30T05:19:13Z membrane FMA:7145 membrane of organ uberon UBERON:0000094 membrane organ An entire span of an organism's life, commencing with the zygote stage and ending in the death of the organism. An entire span of an organism's life. In metazoans, commences with the zygote stage and ends with the death of the organism. FBdv:00000000 HsapDv:0000001 MmusDv:0000001 OGES:000011 ncithesaurus:Life entire life cycle entire lifespan life lifespan uberon UBERON:0000104 life cycle https://github.com/obophenotype/uberon/issues/532 A spatiotemporal region encompassing some part of the life cycle of an organism. this class represents a proper part of the life cycle of an organism. The class 'life cycle' should not be placed here the WBls class 'all stages' belongs here as it is the superclass of other WBls stages we map the ZFS unknown stage here as it is logically equivalent to saying *some* life cycle stage BILS:0000105 EFO:0000399 FBdv:00007012 FMA:24120 HsapDv:0000000 MESH:D008018 MmusDv:0000000 OlatDv:0000010 PdumDv:0000090 WBls:0000002 XAO:1000000 ZFS:0000000 ZFS:0100000 ncithesaurus:Developmental_Stage developmental stage stage uberon UBERON:0000105 life cycle stage A stage at which the organism is a single cell produced by means of sexual reproduction. As in all metazoans, eumetazoan development begins with a fertilized egg, or zygote.[well established][VHOG] BILS:0000106 BilaDO:0000005 EFO:0001322 EHDAA:27 EMAPA:16033 FBdv:00005288 IDOMAL:0000302 NCIT:C12601 PdumDv:0000100 VHOG:0000745 Wikipedia:Zygote XAO:1000001 ZFS:0000001 1-cell stage fertilized egg stage one cell stage uberon fertilized egg stage one-cell stage zygote zygotum UBERON:0000106 zygote stage The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. BILS:0000107 BilaDO:0000006 EFO:0001290 FBdv:00000054 MESH:A16.254.270 MESH:D002970 MmusDv:0000004 OGES:000015 OGES:000020 PdumDv:0000200 Wikipedia:Cleavage_(embryo) XAO:1000004 ZFS:0000046 uberon UBERON:0000107 cleavage stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. consider adding a preceding stage 'morula stage' as part of cleavage BILS:0000108 BilaDO:0000007 EFO:0001282 HsapDv:0000006 MmusDv:0000007 OGES:000003 OGES:000016 OGES:000021 OpenCyc:Mx4rEetFnKP2EdqAAAACs4vPlg WBls:0000005 Wikipedia:Blastula XAO:1000003 ZFS:0000045 uberon UBERON:0000108 blastula stage http://upload.wikimedia.org/wikipedia/commons/c/c6/Blastulation.png A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. BILS:0000109 BilaDO:0000008 EFO:0001296 FBdv:00005317 HsapDv:0000010 MmusDv:0000013 OGES:000004 OGES:000019 WBls:0000010 XAO:1000005 ZFS:0000047 uberon blastocystis trilaminaris stage trilaminar blastocyst stage trilaminar blastoderm stage trilaminar disk stage trilaminar germ stage trilaminar stage UBERON:0000109 gastrula stage Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. In zebrafish, the times of neurulation and segmentation overlap so extensively there is no distinct neurula period of development, such as occurs largely before segmentation in amphibian embryos. BILS:0000110 BilaDO:0000009 HsapDv:0000012 MmusDv:0000017 XAO:1000006 uberon UBERON:0000110 neurula stage https://github.com/obophenotype/developmental-stage-ontologies/issues/84 https://github.com/obophenotype/uberon/issues/343 A stage at which the ectoderm, endoderm, and mesoderm develop into the internal organs of the organism. BILS:0000111 BilaDO:0000010 HsapDv:0000015 MmusDv:0000018 OGES:000005 OGES:000032 Wikipedia:Organogenesis uberon segmentation stage UBERON:0000111 organogenesis stage https://github.com/obophenotype/developmental-stage-ontologies/issues/84 https://github.com/obophenotype/uberon/issues/533 The stage of being a sexually immature adult animal[XAO:1000010]. In mammals this would include infant (nourishment from lactation) and juvenile (prepubertal no longer dependent on mother) BILS:0000112 BTO:0002168 EFO:0001300 EV:0300051 MmusDv:0000043 OGES:000009 XAO:1000010 XtroDO:0000083 ZFS:0000051 immature stage juvenile stage uberon subadult stage UBERON:0000112 sexually immature stage The stage of being a sexually mature adult animal. adult stage post-juvenile adult stage Structure derived from foregut that becomes a lung[GO]. gemma pulmonalis gemma respiratoria lung bud primary lung bud respiratory diverticulum lung bud Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium. consider adding to caro layer NCIT:C66831 layer of cells uberon cell sheath sheath of cells UBERON:0000119 cell layer A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses. UBERON:0005163 CARO:0001001 FBbt:00005099 NLX:147821 funiculus nerve fiber bundle neural fiber bundle uberon UBERON:0000122 neuron projection bundle A spatially aggregated collection of nerve cell bodies in the CNS, consisting of one or more subpopulations that share cell type, chemical phenotype, and connections, and including nearby cells that share the same cell type, chemical phenotype, and connections. (CUMBO) nucleus nervous system nucleus neuraxis nucleus neuronal nucleus nucleus of CNS nucleus of neuraxis neural nucleus uberon UBERON:0000153 anterior region of body uberon UBERON:0000154 posterior region of body A thin sheet or layer of pliable tissue, serving as a covering or envelope of a part, as the lining of a cavity, as a partition or septum, or to connect two structures. membrane FMA:30322 FMA:82500 MESH:D008566 NCIT:C12749 membranous organ component uberon UBERON:0000158 membranous layer Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine. This class is probably too inclusive Portion of the alimentary canal bounded anteriorly by the pyloric sphincter and posteriorly by the cloacal sphincter.[AAO] The tract of the alimentary canal. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] intestinal In zebrafish, No stomach, small intestine, or large intestine can be distinguished. However, differences can be found in the morphology of the mucosa columnar epithelial cells and the number of goblet cells, suggesting functional differentiation. The intestine has numerous folds that become progressively shorter in a rostral-to-caudal direction. Proportionally, these folds are significantly larger than the finger-like intestinal villi of mammals and other amniotes (Wallace et al. 2005). Columnar-shaped absorptive enterocytes are the most numerous in the zebrafish intestinal epithelium. Goblet cells are the second most populous epithelial cell type. AAO:0000246 ANISEED:1235303 BSA:0000093 BTO:0000648 CALOHA:TS-0490 EFO:0000834 EMAPA:32874 EV:0100071 FMA:7199 GAID:295 MA:0000328 MA:0001524 MESH:D007422 MIAA:0000043 NCIT:C12736 SCTID:256876008 TAO:0001338 UMLS:C0021853 VHOG:0000056 WBbt:0005772 Wikipedia:Intestine XAO:0000129 ZFA:0001338 galen:Intestine bowel uberon intestinal tract UBERON:0000160 intestine Anatomical conduit that connects two adjacent body spaces (or a body space with the space surrounding the organism)[FMA,modified]. in FMA, this is an anatomical conduit *space*, rather than anatomical conduit anatomical ostium ostium FMA:3724 SCTID:91837002 anatomical orifice hilum uberon UBERON:0000161 orifice Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures Common chamber into which the intestines and excretory system opens. Arises during development in all vertebrates, but in many it becomes subdivided, lost or incorporated into other structures. adding df link to embryonic cloaca leads to a cycle in uberon-simple, as cloaca is a suberclass of embryonic cloaca A common passage for fecal, urinary, and reproductive discharge in most lower vertebrates as well as the terminal end of the hindgut before division into rectum, bladder, and genital primordia in mammalian embryos. [TFD][VHOG] Anatomical structure which is the common receptacle for the alimentary canal, Wolffian ducts, oviducts, and the bladder.[AAO] A cloaca is apparently a primitive vertebrate feature because it occurs in most primitive gnathostomes and persists in the embryos of almost all vertebrates.[well established][VHOG] cloacal Human beings only have an embryonic cloaca, which is split up into separate tracts during the development of the urinary and reproductive organs hindgut endoderm and proctodeal ectoderm. AAO:0000095 GAID:1206 MESH:D002988 NCIT:C34127 SCTID:362857006 SCTID:370631000 UMLS:C0008987 VHOG:0001186 Wikipedia:Cloaca XAO:0000244 ZFA:0005781 uberon cloacal chamber vent UBERON:0000162 cloaca Endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP]. endoderm-lined chamber that develops as pouch-like dilation of the caudal end of the hindgut and receives the allantois ventrally and two mesonephric ducts laterally; caudally it ends blindly at the cloacal membrane formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm[MP]. this class represents the embryonic form of the cloaca, as found in both mammals and non-mammals. EHDAA2:0000256 EHDAA:4895 EMAPA:27573 Wikipedia:Cloaca_(embryology) uberon cloaca UBERON:0000163 embryonic cloaca The ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females. the ventral part of the cloaca remaining after septation of the rectum, which further develops into part of the bladder, part of the prostatic part of the male urethra and the urethra and vestibule in females The ventral part of the cloaca after its separation from the rectum, giving rise to the lower part of the bladder in both sexes, to the prostatic portion of the male urethra, and to the urethra and vestibule in the female. [TFD][VHOG] In mammals the lowly monotremes still have a cloaca. Higher types have done away with this structure and have a separate anal outlet for the rectum. The monotreme cloaca shows the initiation of this subdivision. The cloaca has such includes only the distal part, roughly comparable to the proctodeum. The more proximal part is divided into (1) a large dorsal passage into which the intestine opens, the coprodeum, and (2) a ventral portion, the urodeum with which the bladder connects. (...) the development of the placental mammals recapitulates in many respects the phylogenetic story. In the sexually indifferent stage of placental mammal there is a cloaca. While the indifferent stage still persists, a septum develops, and extends out to the closing membrane. This divides the cloaca into two chambers: a coprodeum continuous with the gut above, and a urodeum or urogenital sinus below.[well established][VHOG] the term 'urogenital sinus' may refer to the primitive urogenital sinus present as a transient developmental structure in most mammals or it may refer to a condition in which an unseptated cloaca persists in animals longer than normal urogenital sinus EHDAA2:0004060 EHDAA:5029 EHDAA:5919 EMAPA:17379 NCIT:C34322 SCTID:50961009 UMLS:C0231057 VHOG:0000414 Wikipedia:Definitive_urogenital_sinus UGS fetal UGS sinus urogenitalis uberon UBERON:0000164 primitive urogenital sinus http://upload.wikimedia.org/wikipedia/commons/6/6d/Gray1109.png The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes gums, lips, tongue and parts of the palate. Typically also includes the teeth, except where these occur elsewhere (e.g. pharyngeal jaws) or protrude from the mouth (tusks). Cavity in which food is initially ingested and generally contains teeth, tongue and glands.[AAO] Molecular and developmental cell lineage data suggest that the acoel mouth opening is homologous to the mouth of protostomes and deuterostomes and that the last common ancestor of the Bilateria (the 'urbilaterian') had only this single digestive opening.[well established][VHOG] oral some AOs place this as developing from the stomodeum but we weaken this to developmental contribution, as the mouth includes non-ectodermal derivatives in FMA, the tongue, palate etc are part of the mouth which is itself a subdivision of the face. ZFA includes a separate class 'oral region' which is part of the mouth, but excludes tongue and lips AAO:0010355 BTO:0001090 BTO:0004698 CALOHA:TS-1315 EFO:0000825 EHDAA2:0001326 EHDAA:542 EMAPA:16262 FBbt:00003126 FMA:49184 GAID:75 MA:0000341 MA:0002474 MAT:0000038 MESH:D009055 MIAA:0000038 OpenCyc:Mx4rvVidh5wpEbGdrcN5Y29ycA SCTID:21082005 TADS:0000040 TAO:0000547 TAO:0000590 TGMA:0000131 VHOG:0000280 VHOG:0000812 Wikipedia:Mouth XAO:0003029 ZFA:0000547 ZFA:0000590 galen:Mouth http://purl.oboInOwllibrary.org/oboInOwl/uberon/images/lamprey_sucker_rosava_3238889218.jpg regio oralis adult mouth uberon cavital oralis cavitas oris cavum oris mouth cavity oral region oral vestibule rima oris stoma stomatodaeum trophic apparatus vestibule of mouth vestibulum oris UBERON:0000165 mouth https://github.com/obophenotype/uberon/issues/661 http://upload.wikimedia.org/wikipedia/commons/0/06/Mouth_illustration-Otis_Archives.jpg The orifice that connects the mouth to the exterior of the body. oral fissure oral orifice mouth oral part of face oral opening 1 1 1 1 The pair of anatomical structures comprised of a left lung and right lung. lungs lungs pair pulmones set of lungs pair of lungs Organ that functions in gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. apparatus respiratorius organ breathing organ organ of apparatus respiratorius organ of respiratory system respiratory organ respiratory system organ gas exchange organ respiration organ A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity. UBERON:0000324 UBERON:0007550 AEO:0000184 BTO:0000491 EHDAA2_RETIRED:0003184 ENVO:02000022 FMA:9674 galen:Excretion excreted substance portion of excreted substance waste substance uberon excretion UBERON:0000174 excreta A fluid that is composed of blood plasma and erythrocytes. This class excludes blood analogues, such as the insect analog of blood. See UBERON:0000179 haemolymphatic fluid. A complex mixture of cells suspended in a liquid matrix that delivers nutrients to cells and removes wastes. (Source: BioGlossary, www.Biology-Text.com)[TAO] Highly specialized circulating tissue consisting of several types of cells suspended in a fluid medium known as plasma.[AAO] relationship loss: subclass specialized connective tissue (AAO:0000571)[AAO] Recent findings strongly suggest that the molecular pathways involved in the development and function of blood cells are highly conserved among vertebrates and various invertebrates phyla. (...) There is now good reason to believe that, in vertebrates and invertebrates alike, blood cell lineages diverge from a common type of progenitor cell, the hemocytoblast.[well established][VHOG] AAO:0000046 BTO:0000089 CALOHA:TS-0079 EFO:0000296 EHDAA2:0000176 EHDAA:418 EMAPA:16332 ENVO:02000027 EV:0100047 FMA:9670 GAID:965 MA:0000059 MESH:D001769 MIAA:0000315 NCIT:C12434 OpenCyc:Mx4rvVjI8JwpEbGdrcN5Y29ycA TAO:0000007 UMLS:C0005767 VHOG:0000224 Wikipedia:Blood XAO:0000124 ZFA:0000007 galen:Blood portion of blood vertebrate blood uberon whole blood UBERON:0000178 blood Circulating fluid that is part of the hemolymphoid system. Blood, lymph, interstitial fluid or its analogs. cjm 2009-04-08T04:38:19Z CARO:0000081 uberon blood or blood analog circulating fluid UBERON:0000179 haemolymphatic fluid Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. TODO - check relationship with epiblast. Note in FMA this is not a subclass of embryo, but in uberon embryo is the whole organism from zygote onwards and thus includes the blastula UBERON:0007011 BILA:0000059 BTO:0000128 GAID:1294 MESH:A16.254.270.274 MESH:D036703 OGEM:000006 OpenCyc:Mx4rEetFnKP2EdqAAAACs4vPlg Wikipedia:Blastula blastula embryo uberon blastosphere UBERON:0000307 blastula http://upload.wikimedia.org/wikipedia/commons/c/c6/Blastulation.png The upper ventral region of the torso of an organism. mammary part of chest mammary region mamma breast A mucosa that is part of a duodenum [Automatically generated definition]. doudenal mucosa duodenal mucous membrane mucosa of duodenum mucous membrane of duodenum duodenum mucosa duodenal mucosa An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. BTO:0000449 CALOHA:TS-0360 EFO:0001323 FMA:63919 GAID:552 MESH:D005333 NCIT:C13235 SCTID:83418008 fetus embryo late growth stage embryo late stage UBERON:0000323 late embryo The branched tubular glands found in the mucosa of the fundus and body of the stomach which contain parietal cells that secrete hydrochloric acid and zymogenic cells that produce pepsin. gastric gland The wall of the digestive tract. This encompasses all parts of the digestive tract with the exception of the lumen (cavity). digestive tract wall wall of digestive tract wall of gut wall of alimentary tract gut wall In anatomy, the throat is the anterior part of the neck, in front of the vertebral column. It consists of the pharynx and larynx. An important feature of the throat is the epiglottis, a flap which separates the esophagus from the trachea and prevents inhalation of food or drink. The throat contains various blood vessels, various pharyngeal muscles, the trachea (windpipe) and the esophagus. The hyoid bone and the clavicle are the only bones located in the throat of mammals. It is sometimes considered a synonym for fauces. [WP,unvetted]. gula throat A lining of mostly endodermal origin, covered in epithelium, which is involved in absorption and secretion. They line various body cavities that are exposed to the external environment and internal organs. It is at several places continuous with skin: at the nostrils, the lips, the ears, the genital area, and the anus. The sticky, thick fluid secreted by the mucous membranes and gland is termed mucus. The term mucous membrane refers to where they are found in the body and not every mucous membrane secretes mucus[WP] mucosa of organ mucosa of organ part mucosal region mucous membrane organ mucosa region of mucosa tunica mucosa mucosa Functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. functional part of an organ in the body. This is in contrast to the stroma, which refers to the structural tissue of organs, being exactly, connective tissues. parenchymal Early in development the mammalian embryo has three distinct layers: ectoderm (external layer), endoderm (internal layer) and in between those two layers the middle layer or mesoderm. The parenchyma of most organs is of ectodermal (brain, skin) or endodermal origin (lungs, gastrointestinal tract, liver, pancreas). The parenchyma of a few organs (spleen, kidneys, heart) is of mesodermal origin. The stroma of all organs is of mesodermal origin the FMA definition is more restrictive, and limits this to solid organs. This would seem to cause problems for the lung parenchyma, except FMA classifies Lung as solid rather than cavitated BTO:0000999 BTO:0001539 EHDAA:3015 EHDAA:3905 EHDAA:3999 EHDAA:4005 EHDAA:6899 EHDAA:6903 EHDAA:6994 EHDAA:8086 EHDAA:9182 EHDAA:9190 EHDAA:9196 EHDAA:9202 FMA:45732 NCIT:C74601 UMLS:C0933845 Wikipedia:Parenchyma uberon UBERON:0000353 parenchyma The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. blastocystis blastula blastocyst The inner portion of the kidney consisting of the renal pyramids. the inner portion of the kidney consisting of the renal pyramids The renal medulla is split up into a number of sections, known as the renal pyramids. Blood enters into the kidney via the renal artery, which then splits up to form the arcuate arterioles. The arcuate arterioles each in turn branch into interlobular arterioles, which finally reach the glomeruli. At the glomerulus the blood reaches a highly disfavourable pressure gradient and a large exchange surface area, which forces the serum portion of the blood out of the vessel into the renal tubules. Flow continues through the renal tubules, including the proximal tubule, the Loop of Henle, and finally leaves the kidney by means of the collecting duct, leading to the renal ureter. The renal medulla contains the structures of the nephrons responsible for maintaining the salt and water balance of the blood. The renal medulla is hypertonic to the filtrate in the nephron and aids in the reabsorption of water BTO:0001167 CALOHA:TS-1157 EMAPA:19279 GAID:425 MA:0000373 MESH:D007679 NCIT:C12740 SCTID:30737000 UMLS:C0022664 Wikipedia:Renal_medulla galen:MedullaOfKidney kidney medulla medulla of kidney medulla renalis pyramides renales renal medullae renal medullae set renal pyramids renal pyramids set uberon medullary pyramids renal marrow UBERON:0000362 Note that 'renal medulla' is not synonymous with 'medullary region of kidney'. The former is composed of kidney pyramids only, while the latter covers kidney pyramids and renal columns, which are histologically different. renal medulla https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Kidney_L.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Kidney_R.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Kidney_L.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Kidney_R.glb https://upload.wikimedia.org/wikipedia/commons/6/69/Illu_kidney.jpg An epithelial tissue layer that lines much of the urinary tract, including the renal pelvis, the ureters, the bladder, and parts of the urethra. urothelial transitional epithelium BTO:0003906 CALOHA:TS-1096 EMAPA:37978 FMA:63914 FMA:67695 GAID:935 MESH:D019459 NCIT:C12884 NCIT:C13318 SCTID:30117005 SCTID:57789003 UMLS:C0225339 UMLS:C0227598 Wikipedia:Transitional_epithelium Wikipedia:Urothelium epithelium transitionale transitional epithelium uroepithelium uberon UBERON:0000365 urothelium https://upload.wikimedia.org/wikipedia/commons/9/91/Harnblase_Urothel.png The subdivision of the musculoskeletal system that consists of all the muscles of the body[VSAO, modified]. consider whether this should be restricted to skeletal musculature. See https://github.com/obophenotype/uberon/issues/77 Anatomical system that consists of the muscles of the body.[VSAO] we place the MA term musculature here, rather than under uberon:musculature, as this seems more appropriate given the structure of MA AAO:0000307 BILA:0000088 BTO:0001369 BTO:0001485 EFO:0000801 EMAPA:35578 FBbt:00005069 FMA:72954 MA:0002888 MAT:0000025 MIAA:0000025 VSAO:0000033 XAO:0004042 muscle system muscle system of body muscular system musculature system set of all muscles set of muscles of body vertebrate muscular system uberon muskelsystem UBERON:0000383 musculature of body A gland in which the principal secretory cells are serous secreting cells. glands that secrete watery albuminous material that often contains enzymes[MP:0008052]. BTO:0001837 EMAPA:37950 FMA:62889 Wikipedia:Serous_gland uberon UBERON:0000409 serous gland http://upload.wikimedia.org/wikipedia/commons/c/c0/Gray1021.png A gland in which the principal secretory cells are mucus secreting cells. glandula mucosa muciparous gland mucous secreting gland mucus gland mucus-secreting gland mucous gland A portion of organism substance that is produced by exocrine glands. BTO has two distunct classes, with exocrine glandular secretion a subtype of secretion - however, all examples in BTO directly under secretion appear to be exocrine gland secretions UBERON:0006540 secretion AEO:0001005 BTO:0002977 BTO:0002979 EMAPA:36535 FMA:9675 MA:0002504 MESH:D012634 NCIT:C34062 UMLS:C1516992 galen:Secretion bodily secretion exocrine gland fluid/secretion secreted substance uberon exocrine gland fluid exocrine gland fluid or secretion exocrine gland secretion external secretion UBERON:0000456 bodily secretion secretion of exocrine gland organism substance Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. AAO:0010839 AEO:0000004 BILA:0000004 CALOHA:TS-2101 CARO:0000004 EHDAA2:0003004 EMAPA:35178 FBbt:00007019 FMA:9669 HAO:0000004 MA:0002450 NCIT:C13236 SPD:0000008 TAO:0001487 TGMA:0001824 VHOG:0001726 XAO:0004001 ZFA:0001487 galen:BodySubstance body fluid or substance body substance organism substance portion of body substance portion of organism substance uberon UBERON:0000463 organism substance organism substance Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures. lumen space AAO:0010110 AEO:0000005 BILA:0000005 CARO:0000005 EHDAA2:0003005 FBbt:00007017 FMA:5897 HAO:0000005 NCIT:C94478 TAO:0001668 TGMA:0001825 UMLS:C0524461 VHOG:0001728 XAO:0003190 ZFA:0001643 lumen space uberon anatomical spaces UBERON:0000464 anatomical space material anatomical entity Anatomical entity that has mass. AAO:0010264 AEO:0000006 BILA:0000006 CARO:0000006 EHDAA2:0003006 FBbt:00007016 FMA:67165 HAO:0000006 TAO:0001836 TGMA:0001826 VHOG:0001721 uberon UBERON:0000465 material anatomical entity Anatomical entity that has no mass. AAO:0010265 AEO:0000007 BILA:0000007 CARO:0000007 EHDAA2:0003007 FBbt:00007015 FMA:67112 HAO:0000007 TAO:0001835 TGMA:0001827 VHOG:0001727 immaterial physical anatomical entity uberon UBERON:0000466 immaterial anatomical entity Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function. system AAO:0000007 AEO:0000011 BILA:0000011 BIRNLEX:14 BSA:0000049 CALOHA:TS-2088 CARO:0000011 EHDAA2:0003011 EHDAA:392 EMAPA:16103 EV:0100000 FBbt:00004856 FMA:7149 HAO:0000011 IDOMAL:0002460 MA:0000003 NCIT:C12919 OpenCyc:Mx4rCWM0QCtDEdyAAADggVbxzQ SCTID:278195005 TAO:0001439 TGMA:0001831 UMLS:C0460002 VHOG:0001725 WBbt:0005746 WBbt:0005763 Wikipedia:Organ_system XAO:0003002 ZFA:0001439 galen:AnatomicalSystem body system connected anatomical system organ system uberon anatomical systems UBERON:0000467 anatomical system Anatomical structure that is an individual member of a species and consists of more than one cell. TODO - split body and mc organism? body continues after death stage organismal organism AAO:0010026 AEO:0000191 BILA:0000012 BIRNLEX:18 BSA:0000038 BTO:0000042 CARO:0000012 EFO:0002906 EHDAA2:0003103 EHDAA2:0003191 EHDAA:1 EHDAA:9178 EMAPA:25765 EV:0100016 FBbt:00000001 FMA:256135 HAO:0000012 NCIT:C13041 SCTID:243928005 TADS:0000001 TAO:0001094 TGMA:0001832 VHOG:0000671 WBbt:0007833 Wikipedia:Multi-cellular_organism XAO:0003004 ZFA:0001094 galen:Organism ncithesaurus:Whole_Organism multi-cellular organism organism whole organism animal uberon Koerper body whole body whole organism UBERON:0000468 multicellular organism Multi-tissue structure that is part of a compound organ. this class was introduced for consistency with CARO, however, it has yet to be used in this or other ontologies. It may be retired in the future AAO:0010017 AEO:0000019 BILA:0000019 CARO:0000019 EHDAA2:0003019 HAO:0000019 TAO:0001489 TGMA:0001835 XAO:0003039 ZFA:0001489 uberon compound organ components UBERON:0000471 compound organ component The organs and associated structures associated with bearing offspring in a female animal. female organism genitalia female organism reproductive system genitalia of female organism reproductive system of female organism female genital system female genital tract female genitalia female genitals female reproductive tract gynaecological tissue systema genitale femininum female reproductive system Anatomical structure which is a subdivision of a whole organism, consisting of components of multiple anatomical systems, largely surrounded by a contiguous region of integument. Reflects CARO2. todo - check the inclusion of FMA 'cardinal body part here', and check child terms for consistency AAO:0010053 AEO:0000032 BILA:0000032 BIRNLEX:7 CALOHA:TS-2084 CARO:0000032 EFO:0000808 EHDAA2:0003032 EMAPA:36031 FBbt:00007009 FMA:7153 HAO:0000032 MA:0002433 MAT:0000293 MESH:D001829 MIAA:0000293 NCIT:C32221 OpenCyc:Mx4rvViAHJwpEbGdrcN5Y29ycA TAO:0001308 TGMA:0001840 UMLS:C0229962 VHOG:0001758 Wikipedia:Body_part XAO:0003013 ZFA:0001308 galen:BodyPart anatomic region uberon body part body region cardinal body part UBERON:0000475 organism subdivision Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue. AAO:0010268 AEO:0000040 BILA:0000040 CARO:0000040 EHDAA2:0003040 FBbt:00007013 FMA:63863 HAO:0000040 TAO:0000382 TGMA:0001841 XAO:0003162 ZFA:0000382 uberon acellular anatomical structures UBERON:0000476 acellular anatomical structure anatomical cluster Anatomical group that has its parts adjacent to one another. Anatomical group whose component anatomical structures lie in close proximity to each other. Will be obsoleted in CARO v2 [https://github.com/obophenotype/caro/issues/3] AAO:0010009 AEO:0000041 BILA:0000041 CARO:0000041 EHDAA2:0003041 FBbt:00007277 FMA:49443 HAO:0000041 TADS:0000605 TAO:0001478 TGMA:0001842 VHOG:0001737 XAO:0003160 ZFA:0001478 uberon UBERON:0000477 anatomical cluster A multicellular anatomical structure that is associated with an embryo and derived from the zygote from which it develops, but which does not contribute to the embryo proper or to structures that are part of the same organism after embryogenesis. extra-embryonic structure extraembryonic structures extraembryonic tissue extraembryonic structure Multicellular anatomical structure that consists of many cells of one or a few types, arranged in an extracellular matrix such that their long-range organisation is at least partly a repetition of their short-range organisation. changed label and definition to reflect CARO2 AAO:0000607 AAO:0010054 AEO:0000043 BILA:0000043 BIRNLEX:19 CALOHA:TS-2090 CARO:0000043 EHDAA2:0003043 EMAPA:35868 FBbt:00007003 FMA:9637 HAO:0000043 MA:0003002 MESH:D014024 NCIT:C12801 TAO:0001477 TGMA:0001844 UMLS:C0040300 VHOG:0001757 WBbt:0005729 XAO:0003040 ZFA:0001477 galen:Tissue portion of tissue tissue portion simple tissue uberon UBERON:0000479 tissue Anatomical structure that has as its parts two or more portions of tissue of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona-fide boundaries from other distinct structural units of different types. AAO:0010048 AEO:0000055 BILA:0000055 CARO:0000055 EHDAA2:0003055 FBbt:00007010 HAO:0000055 TAO:0001488 TGMA:0001847 VHOG:0001762 XAO:0003037 ZFA:0001488 uberon multi-tissue structures UBERON:0000481 multi-tissue structure Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]. The two basic types of metazoan tissue are epithelial and connective. The simplest metazoans, and developmental stages of many primitive invertebrates, consist solely of these two layers. Thus, epithelial and connective tissues may be the primary (original) tissues of metazoans, and both are important in the functional organization of animals.[well established][VHOG] epithelial AAO:0000144 AAO:0010055 AEO:0000066 BILA:0000066 BTO:0000416 CALOHA:TS-0288 CARO:0000066 EHDAA2:0003066 EMAPA:32738 FBbt:00007005 FMA:9639 GAID:402 HAO:0000066 MA:0003060 MESH:D004848 NCIT:C12710 SCTID:31610004 TAO:0001486 UMLS:C0014609 VHOG:0000387 Wikipedia:Epithelium XAO:0003045 ZFA:0001486 epithelial tissue portion of epithelium uberon UBERON:0000483 Editor note: surface epithelium may contain non-epithelial cells, such as melanocytes, lymphocytes and dendritic cells, within the sheet of epithelial cells. Do we consider these part of the epithelium, or located-in it? epithelium https://upload.wikimedia.org/wikipedia/commons/8/8f/Illu_epithelium.jpg Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA] Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA]. columnar epithelium columnar epithlium AAO:0010063 AEO:0000068 BILA:0000068 CARO:0000068 EHDAA2_RETIRED:0003068 FBbt:00007027 FMA:45567 HAO:0000068 NCIT:C33552 SCTID:32210007 TAO:0001496 UMLS:C0836135 Wikipedia:Simple_columnar_epithelium XAO:0004008 ZFA:0001496 epithelium simplex columnare simple columnar epithelium uberon simple columnar epithelia UBERON:0000485 simple columnar epithelium http://upload.wikimedia.org/wikipedia/commons/8/8b/Gray1059.png Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA] Epithelium which consists of more than one layer of epithelial cells that may or may not be in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, ciliated stratified columnar epithelium.[FMA]. Epithelium that consists of more than one layer of epithelial cells.[CARO] AAO:0010059 AEO:0000069 BILA:0000069 BTO:0002074 CARO:0000069 EHDAA2:0003069 FMA:45562 HAO:0000069 NCIT:C33622 SCTID:309044005 TAO:0001494 UMLS:C0682575 Wikipedia:Stratified_epithelium XAO:0004006 ZFA:0001494 stratified epithelium uberon laminated epithelium UBERON:0000486 multilaminar epithelium Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA] Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA]. Unilaminar epithelium that consists of a single layer of squamous cells.[CARO] AAO:0010066 AEO:0000070 BILA:0000070 BTO:0002073 CARO:0000070 EHDAA2:0003070 FMA:45565 HAO:0000070 NCIT:C13178 TAO:0001498 UMLS:C0836133 Wikipedia:Simple_squamous_epithelium XAO:0004010 ZFA:0001498 epithelium simplex squamosum uberon simple squamous epithelia UBERON:0000487 simple squamous epithelium https://upload.wikimedia.org/wikipedia/commons/8/8f/Illu_epithelium.jpg Compound organ that contains one or more macroscopic anatomical spaces. this class was introduced for consistency with CARO, however, it has yet to be used in this or other ontologies. It may be retired in the future AAO:0010016 AEO:0000072 BILA:0000072 CARO:0000072 EHDAA2:0003072 FMA:55671 HAO:0000072 TAO:0001490 TGMA:0001857 VHOG:0001730 XAO:0003165 ZFA:0001490 cavitated organ uberon cavitated compound organs UBERON:0000489 cavitated compound organ Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA] Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA]. consider adding disjointness axiom between unilaminar and multilaminar - but note that this will render EHDAA2:0003244 (chorionic trophoblast) unsatisfiable Epithelium that consists of a single layer of epithelial cells.[CARO] AAO:0010062 AEO:0000073 BILA:0000073 BTO:0002073 CARO:0000073 EHDAA2:0003073 FMA:45561 HAO:0000073 NCIT:C33554 SCTID:309043004 TAO:0001495 UMLS:C0682574 XAO:0004007 ZFA:0001495 simple epithelium uberon unilaminar epithelia UBERON:0000490 unilaminar epithelium Mucus is a bodily fluid consisting of a slippery secretion of the lining of the mucous membranes in the body. It is a viscous colloid containing antiseptic enzymes (such as lysozyme) and immunoglobulins. Mucus is produced by goblet cells in the mucous membranes that cover the surfaces of the membranes. It is made up of mucins and inorganic salts suspended in water. mucus Subdivision of trunk that lies between the head and the abdomen. note that we use the slightly verbose term 'thoracic segment of trunk' to avoid confusuon with insect thorax. todo - taxonomic constraints. Also, in FMA 'thorax' is a synonym for chest EMAPA:35862 FMA:259209 MA:0000022 SCTID:302551006 Wikipedia:Thorax thorax uberon anterior subdivision of trunk upper body upper trunk UBERON:0000915 thoracic segment of trunk The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column. Vertebrate specific. In arthropods 'abdomen' is the most distal section of the body which lies behind the thorax or cephalothorax. If need be we can introduce some grouping class abdominal celiac BTO:0000020 CALOHA:TS-0001 EFO:0000968 EMAPA:35102 EV:0100011 FMA:9577 GAID:16 MA:0000029 MAT:0000298 MESH:D000005 MIAA:0000298 SCTID:302553009 Wikipedia:Abdomen galen:Abdomen abdominopelvic region abdominopelvis uberon adult abdomen belly celiac region UBERON:0000916 abdomen Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. embryonic Obsoleted in ZFA. Note that embryo is not classified as an embryonic structure - an embryonic structure is only the parts of an embryo AAO:0011035 AEO:0000169 BILA:0000056 BSA:0000039 BTO:0000379 CALOHA:TS-0229 EFO:0001367 EHDAA2:0000002 EHDAA2_RETIRED:0003236 EHDAA:38 EMAPA:16039 FBbt:00000052 FMA:69068 GAID:963 IDOMAL:0000646 MAT:0000226 MESH:D004622 MIAA:0000019 NCIT:C28147 OGEM:000001 OpenCyc:Mx4rwP1ceZwpEbGdrcN5Y29ycA SCTID:57991002 UMLS:C0013935 VHOG:0001766 Wikipedia:Embryo XAO:0000113 ZFA:0000103 http://neurolex.org/wiki/Category:Embryonic_organism embryonic organism uberon developing organism developmental tissue UBERON:0000922 embryo https://github.com/obophenotype/uberon/issues/503 https://upload.wikimedia.org/wikipedia/commons/2/2d/Wrinkledfrog_embryos.jpg A layer of cells produced during the process of gastrulation during the early development of the animal embryo, which is distinct from other such layers of cells, as an early step of cell differentiation. The three types of germ layers are the endoderm, ectoderm, and mesoderm. The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] embryonic tissue AAO:0000480 BILA:0000035 BTO:0000556 EMAPA:36033 FBbt:00000110 FMA:69069 GAID:1303 MESH:A16.254.425 MESH:D005855 NCIT:C12950 NCIT:C54105 TAO:0001122 UMLS:C0920502 UMLS:C1708239 VHOG:0001223 Wikipedia:Germ_layer XAO:0003011 ZFA:0001122 germinal layer primary germ layer uberon embryonic germ layer embryonic germ layers UBERON:0000923 Classically the germ layers are ectoderm, mesoderm and endoderm. Alternatively: primary = ectoderm, endoderm; secondary=mesoderm; tertiary=dorsal mesoderm, NC[https://github.com/obophenotype/uberon/wiki/The-neural-crest] germ layer Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. Primary germ layer that is the outer of the embryonic germ layers and gives rise to epidermis and neural tissue.[AAO] The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] ectodermal AAO:0000137 BILA:0000036 BTO:0000315 CALOHA:TS-0216 EFO:0000414 EHDAA2:0000428 EMAPA:16069 EV:0100003 FBbt:00000111 FMA:69070 GAID:1304 MAT:0000155 MAT:0000173 MESH:A16.254.425.273 MESH:D004475 MIAA:0000173 NCIT:C12703 SCTID:362851007 TAO:0000016 UMLS:C0013574 VHOG:0000153 Wikipedia:Ectoderm XAO:0000001 ZFA:0000016 embryonic ectoderm uberon UBERON:0000924 ectoderm http://upload.wikimedia.org/wikipedia/commons/1/19/Gray32.png Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] endodermal AAO:0000139 BILA:0000038 BTO:0000800 CALOHA:TS-0273 EFO:0002545 EHDAA2:0000436 EMAPA:16062 EV:0100005 FBbt:00000125 FMA:69071 GAID:1305 MAT:0000175 MESH:A16.254.425.407 MESH:D004707 MIAA:0000175 NCIT:C12706 SCTID:362855003 TAO:0000017 UMLS:C0014144 VHOG:0000154 Wikipedia:Endoderm XAO:0000090 ZFA:0000017 uberon entoderm UBERON:0000925 endoderm http://upload.wikimedia.org/wikipedia/commons/c/c0/Endoderm2.png http://upload.wikimedia.org/wikipedia/commons/d/df/Gray10.png The middle germ layer of the embryo, between the endoderm and ectoderm. Primary germ layer that is the middle of the embryonic germ layers.[AAO] The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] mesodermal sponges do not seem to have a mesoderm and accordingly Amphimedon lacks transcription factors involved in mesoderm development (Fkh, Gsc, Twist, Snail)[http://www.nature.com/nature/journal/v466/n7307/full/nature09201.html]. Mesoderm may not be homologous across verteberates UBERON:0003263 AAO:0000304 BILA:0000037 BTO:0000839 CALOHA:TS-0623 EFO:0001981 EHDAA2:0001128 EHDAA:124 EHDAA:160 EHDAA:168 EHDAA:183 EMAPA:16083 EV:0100006 FBbt:00000126 FMA:69072 GAID:522 MAT:0000174 MESH:A16.254.425.660 MESH:D008648 MIAA:0000174 NCIT:C12750 SCTID:362854004 TAO:0000041 UMLS:C0025485 VHOG:0000152 Wikipedia:Mesoderm XAO:0000050 ZFA:0000041 uberon embryonic mesoderm entire mesoderm mesodermal mantle UBERON:0000926 mesoderm http://upload.wikimedia.org/wikipedia/commons/e/e8/Mesoderm.png Anterior part of the embryonic digestive tract that develops into a mouth. The stomodeum includes as parts an invagination of the ectoderm and the stomodeal cavity. consider indicating location. e.g. anterior. Note some AOs place this as part of oral opening, but it's not clear when this structure comes into existence Anterior part of the embryonic alimentary canal formed as an invagination of the ectoderm; the future mouth.[TAO] the primordial mouth region of the developing head, initially a midline ectodermal depression between the forebrain bulge (cranially) and the heart bulge (caudally) and between the maxillary and mandibular components of the first pharyngeal arch; the stomodeum is separated from the anterior end of the foregut by the buccopharyngeal membrane; the mouth is developed partly from the stomodeum, and partly from the floor of the anterior portion of the foregut; the lips, teeth, and gums are formed from the walls of the stomodeum, but the tongue is developed in the floor of the pharynx stomodeal This class groups together disparate structures as all being the anterior part of the early metazoan digestive tract and precursor of the mouth. However, the developmental processes vary, so this class may be split in future. E.g. in mammals it is a rostral depression surrounded by prominences. Outgrowth of the prominences produces a stomodeal cavity. stomodeal-hypophyseal primordium BTO:0004224 EHDAA2:0001929 EMAPA:16263 FBbt:00000439 FMA:295846 NCIT:C34306 TAO:0001290 TGMA:0000135 UMLS:C1514977 Wikipedia:Stomodeum XAO:0000269 ZFA:0001290 mouth primordium primitive oral cavity stomatodeum stomodaeum uberon mouth pit oral ectoderm oral pit UBERON:0000930 stomodeum http://upload.wikimedia.org/wikipedia/commons/9/93/Gray977.png Inward fold on the surface of the embryonic ectoderm that develops into an ectodermal terminal part of the digestive tract. removed WBbt:0006795 'proctodeum' - junction between the alimentary and genital tracts in the male. An inward fold on the surface of the embryonic ectoderm that develops into part of the anal passage.[TAO] Inward fold on the surface of the embryonic ectoderm that develops into part of the anal passage.[AAO] proctodeal AAO:0011087 EHDAA2:0000121 EMAPA:25038 FBbt:00000123 NCIT:C34278 TAO:0000066 UMLS:C0231054 VHOG:0000139 Wikipedia:Proctodeum XAO:0001019 ZFA:0000066 embryonic proctodaeum proctodaeum amnioproctodeal invagination uberon anal pit anus porus UBERON:0000931 proctodeum https://github.com/obophenotype/uberon/issues/685 Cranial nerve fiber tract which is comprised of retinal ganglion cell axons running posterior medially towards the optic chiasm, at which some of the axons cross the midline and after which the structure is termed the optic tract. Transmits visual information from the retina to the brain[ZFA]. 2n optic nerve 02 optic nerve cranial II nervus opticus nervus opticus [II] optic II optic II nerve optic nerve [II] second cranial nerve CN-II nerve II optic cranial nerve II An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium. stomach chamber anterior intestine gaster mesenteron ventriculus stomach A membranous fold of the heart that prevents reflux of fluid heart valve valve of heart cardiac valve heart valve heart valves stomodaeal valve valvule cardial valve The main trunk of the systemic arterial system that carries blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation The main trunk of the systemic arterial system that carries blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation. AAO:0010213 BTO:0000135 CALOHA:TS-0046 EFO:0000265 EMAPA:18601 EV:0100027 FMA:3734 GAID:469 MA:0000062 MAT:0000035 MESH:D001011 MIAA:0000035 NCIT:C12669 SCTID:181298001 VHOG:0001523 Wikipedia:Aorta XAO:0003010 galen:Aorta trunk of aortic tree trunk of systemic arterial tree dorsal aorta arteria maxima UBERON:0000947 aorta A myogenic muscular circulatory organ found in the vertebrate cardiovascular system composed of chambers of cardiac muscle. It is the primary circulatory organ. Blood pumping organ composed of four chambers: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus.[TAO] Part of the circulatory system responsible for pumping blood; composed of three chambers--two atria and one ventricle.[AAO] relationship type change: differentiates_from lateral plate mesoderm (AAO:0010574) CHANGED TO: develops_from lateral plate mesoderm (UBERON:0003081)[AAO] As noted, the hearts of birds and mammals have four chambers that arises from the two chambers (atrium and ventricle) of the fish heart.[well established][VHOG] cardiac AAO:0010210 BILA:0000020 BTO:0000562 CALOHA:TS-0445 EFO:0000815 EHDAA2:0000738 EHDAA:420 EMAPA:16105 EV:0100018 FMA:7088 GAID:174 MA:0000072 MAT:0000036 MESH:D006321 MIAA:0000036 NCIT:C12727 OpenCyc:Mx4rvVjvDpwpEbGdrcN5Y29ycA SCTID:302509004 TAO:0000114 UMLS:C0018787 VHOG:0000276 Wikipedia:Heart XAO:0000064 ZFA:0000114 galen:Heart chambered heart vertebrate heart branchial heart uberon Herz@de cardium UBERON:0000948 Taxon notes:" the ascidian tube-like heart lacks chambers....The ascidian heart is formed after metamorphosis as a simple tube-like structure with a single-layered myoepithelium that is continuous with a single-layered pericar- dial wall. It lacks chambers and endocardium.... The innovation of the chambered heart was a key event in vertebrate evolution, because the chambered heart generates one-way blood flow with high pressure, a critical requirement for the efficient blood supply of large-body vertebrates... all extant vertebrates have hearts with two or more chambers (Moorman and Christoffels 2003)" DOI:10.1101/gad.1485706 Taxon notes:" the ascidian tube-like heart lacks chambers....The ascidian heart is formed after metamorphosis as a simple tube-like structure with a single-layered myoepithelium that is continuous with a single-layered pericar- dial wall. It lacks chambers and endocardium.... The innovation of the chambered heart was a key event in vertebrate evolution, because the chambered heart generates one-way blood flow with high pressure, a critical requirement for the efficient blood supply of large-body vertebrates... all extant vertebrates have hearts with two or more chambers (Moorman and Christoffels 2003)" http://dx.doi.org/10.1101/gad.1485706 heart https://ccf-ontology.hubmapconsortium.org/objects/v1.0/VH_F_Heart.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Heart.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Heart.glb Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity. Anatomical system containing glands which regulates bodily functions though the secretion of hormones.[AAO] Multicellular organisms have complex endocrine systems, allowing responses to environmental stimuli, regulation of development, reproduction, and homeostasis. Nuclear receptors (NRs), a metazoan-specific family of ligand-activated transcription factors, play central roles in endocrine responses, as intermediates between signaling molecules and target genes. The NR family includes ligand-bound and orphan receptors, that is, receptors with no known ligand or for which there is no ligand Pocket. Understanding NR evolution has been further improved by comparison of several completed genomes, particularly those of deuterostomes and ecdysozoans. In contrast, evolution of NR ligands is still much debated. One hypothesis proposes that several independent gains and losses of ligand-binding ability in NRs occurred in protostomes and deuterostomes. A second hypothesis, pertaining to the NR3 subfamily (vertebrate steroid hormone receptors and estrogen related receptor), proposes that before the divergence of protostomes and deuterostomes, there was an ancestral steroid receptor (AncSR) that was ligand-activated and that orphan receptors secondarily lost the ability to bind a ligand. (...) Our analysis reveals that steroidogenesis has been independently elaborated in the 3 main bilaterian lineages (...).[well established][VHOG] endocrine AAO:0010279 CALOHA:TS-1301 EFO:0002969 EHDAA2:0002224 EMAPA:35306 EV:0100128 FBbt:00005068 FMA:9668 GAID:439 MA:0000012 MESH:D004703 NCIT:C12705 SCTID:278876000 TAO:0001158 UMLS:C0014136 VHOG:0000098 Wikipedia:Endocrine_system XAO:0000158 ZFA:0001158 endocrine glandular system endocrine system systema endocrinum uberon UBERON:0000949 endocrine system The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals. Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]. encephalon suprasegmental levels of nervous system suprasegmental structures synganglion the brain brain Any thin layer or plate. TODO - merge with cell layer? laminar Wikipedia:Lamina_of_the_vertebral_arch laminar tissue uberon UBERON:0000957 lamina http://upload.wikimedia.org/wikipedia/commons/8/80/Laminaarcusvertebrae.png Middle part of an organ, surrounded by the cortex. this class is used in a very general sense medullary FMA:61108 galen:Medulla medulla uberon UBERON:0000958 medulla of organ A decussation of the diencephalon where the fibers of the optic nerve cross chiasma opticum decussation of optic nerve fibers optic chiasm chiasma chiasma nervorum opticorum optic chiasm (Rufus of Ephesus) optic chiasma the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure cornea of camera-type eye corneas tunica cornea cornea Transparent part of camera-type eye that helps to refract light to be focused on the retina. camera-type eye lens eye lens lens lens crystallina crystalline lens lenses ocular lens lens of camera-type eye The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. inner layer of eyeball retina of camera-type eye tunica interna of eyeball Netzhaut retinas retina An organ that detects light. light-detecting organ visual apparatus eye An organism subdivision that extends from the head to the pectoral girdle, encompassing the cervical vertebral column. collum neck (volume) neck Anatomical cluster that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]. Anatomical structure that consists of two or more adjacent skeletal structures, which may be interconnected by various types of tissue[VSAO]. Anatomical cluster that consists of two or more adjacent bones or cartilages, which may be interconnected by various types of tissue.[VSAO] Anatomical cluster which consists of two or more adjacent bones or cartilages, which may be interconnected by various types of tissue.[TAO] articulation joint AEO:0000182 BTO:0001686 CALOHA:TS-2023 EFO:0000948 EMAPA:35456 FMA:7490 GAID:102 MA:0000319 MAT:0000188 MESH:D007596 MIAA:0000188 NCIT:C13044 OpenCyc:Mx4rvVjjdpwpEbGdrcN5Y29ycA RETIRED_EHDAA2:0003182 SCTID:302536002 TAO:0000367 UMLS:C0022417 VHOG:0001276 VSAO:0000101 Wikipedia:Joint XAO:0000171 ZFA:0001596 galen:Joint uberon articular joint joints UBERON:0000982 skeletal joint Anatomical system that has as its parts the organs concerned with reproduction. consider splitting genitalia from reproductive system Anatomical system which consists of organs and tissues associated with sexual reproduction of the organism.[AAO] Arguably, one of the most important aspects of urbilaterian organogenesis would have been gonadogenesis, since Urbilateria must have successfully generated gametes and developed a strategy for extrusion and fertilization, in order to be the ancestor of all living Bilateria.[well established][VHOG] 2022-06-10T18:22:34Z AAO:0010258 BILA:0000103 BTO:0000081 CALOHA:TS-1318 EFO:0000809 EHDAA2:0001603 EHDAA:5923 EMAPA:17381 EV:0100100 FBbt:00004857 FMA:7160 GAID:363 HAO:0000374 HAO:0000895 MA:0000326 MESH:D005835 MIAA:0000305 NCIT:C12841 SCTID:278875001 TAO:0000632 UMLS:C1261210 VHOG:0000182 WBbt:0005747 Wikipedia:Reproductive_system XAO:0000142 ZFA:0000632 genital system genitalia uberon Geschlechtsorgan animal reproductive system genital system genital tract genitalia organa genitalia reproductive tissue reproductive tract systemata genitalia UBERON:0000990 reproductive system http://upload.wikimedia.org/wikipedia/commons/5/52/Penis.svg Reproductive organ that produces and releases eggs (ovary) or sperm (testis). Anatomical structure which produces gametes as well as certain sex hormones controlled by the pituitary gonadotropins.[AAO] The part of the reproductive system that produces and releases eggs (ovary) or sperm (testis).[TAO] Examination of different vertebrate species shows that the adult gonad is remarkably similar in its morphology across different phylogenetic classes. Surprisingly, however, the cellular and molecular programs employed to create similar organs are not evolutionarily conserved.[uncertain][VHOG] gonadal FMA xref is a 'general anatomical term' AAO:0000213 BILA:0000123 BSA:0000079 BTO:0000534 EMAPA:17383 FBbt:00004858 FMA:18250 GAID:368 HAO:0000379 MA:0002420 MESH:D006066 NCIT:C12725 SCTID:304623008 TAO:0000413 UMLS:C0018067 VHOG:0000397 WBbt:0005175 Wikipedia:Gonad XAO:0003146 ZFA:0000413 gonada uberon gonads UBERON:0000991 gonad the gonad of a female organism which contains germ cells animal ovary female gonad female organism genitalia gonad female organism genitalia gonada female organism reproductive system gonad female organism reproductive system gonada female reproductive system gonad female reproductive system gonada genitalia of female organism gonad genitalia of female organism gonada gonad of female organism genitalia gonad of female organism reproductive system gonad of female reproductive system gonad of genitalia of female organism gonad of reproductive system of female organism gonada of female organism genitalia gonada of female organism reproductive system gonada of female reproductive system gonada of genitalia of female organism gonada of reproductive system of female organism ovum-producing ovary reproductive system of female organism gonad reproductive system of female organism gonada ovaries ovarium ovary A tube or collection of tubes in an animal from the ovaries to the outside of the body. ovarian duct ovarian tube uterine tube female reproductive tracts oviducts tuba uterina tuba uterinae tubular parts of female reproductive system oviduct the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth uterus A fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]. distal oviductal region distal portion of oviduct vaginae vagina The outer epithelial layer of the skin that is superficial to the dermis. A cellular, multilayered epithelium derived from the ectoderm. Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present. Le Guellec et al, 2004.[TAO] The outer epithelial layer of the external integument of the body that is derived from the embryonic epiblast.[AAO] relationship loss: subclass external integument structures (AAO:0000961)[AAO] (...) outer epithelia in all metazoan animals are homologous. (...) The ancestor of all metazoans likely had an epidermis with a basal extracellular matrix (ECM), an apical extracellular glycocalyx, and one cilium with a striated rootlet per cell.[well established][VHOG] epidermal Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present. In terrestrial vertebrates the epidermis often forms an outer keratinized or cornified layer, the stratum corneum. Interaction between the epideris and dermis gives rise to feathers (birds), hair and mammary glands (mammals), teeth and scales (placoid: chondrichthyans; cosmoids, ganoid, cycloid in bony fishes). epidermis skin AAO:0000143 BTO:0000404 CALOHA:TS-0283 EFO:0000954 EMAPA:17528 EV:0100153 FMA:70596 GAID:932 MA:0000153 MAT:0000154 MESH:D004817 MIAA:0000154 TAO:0000105 UMLS:C0014520 VHOG:0000077 XAO:0000028 ZFA:0000105 vertebrate epidermis uberon UBERON:0001003 skin epidermis Functional system which consists of structures involved in respiration. The anatomical system in which the exchange of oxygen and carbon dioxide between the organism and its environment.[AAO] There is no doubt that the primitive pattern of vertebrate air-breathing is the buccal pulse pump found in actinopterygian fishes.[well established][VHOG] AAO:0000541 BTO:0000203 CALOHA:TS-1319 EFO:0000804 EHDAA2:0001604 EHDAA:2203 EMAPA:16727 EV:0100036 FMA:7158 GAID:78 MA:0000327 MAT:0000030 MESH:D012137 MIAA:0000030 NCIT:C12779 OpenCyc:Mx4rvVjzFJwpEbGdrcN5Y29ycA SCTID:278197002 TAO:0000272 UMLS:C0035237 VHOG:0000202 Wikipedia:Respiratory_system XAO:0000117 ZFA:0000272 apparatus respiratorius respiratory system uberon Atmungssystem apparatus respiratorius systema respiratorium UBERON:0001004 respiratory system http://upload.wikimedia.org/wikipedia/commons/5/5e/Respiratory_system_complete_en.svg https://ccf-ontology.hubmapconsortium.org/objects/v1.0/VH_F_Lung.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Lung.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Lung.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.4/3d-vh-f-lung.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.4/3d-vh-m-lung.glb An airway through which respiratory air passes in organisms. airway airways respiratory airway Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes. An anatomical system consisting of the alimentary canal and digestive glands responsible for intake, absorption, digestion and excretion of food.[AAO] digestive many anatomy ontologies consider gastrointestinal system synonymous with digestive system. here we follow MA in dividing digestive system into gastrointestinal and hepatobiliary. hepatobiliary includes the liver and biliary tract. species-specific AO classes are categorized according to whether liver is included. For example, XAO includes liver as part of XAO:0000125 alimentary system, so we assume this class is the more generic class AAO:0000129 BILA:0000082 BTO:0000058 CALOHA:TS-1293 EFO:0000793 EV:0100056 FBbt:00005055 FMA:7152 GAID:278 MA:0002431 MAT:0000018 MESH:D004064 MIAA:0000018 SCTID:278859004 TADS:0000170 TAO:0000339 WBbt:0005748 Wikipedia:Digestive_system XAO:0000125 ZFA:0000339 galen:DigestiveSystem ncithesaurus:Digestive_System uberon alimentary system alimentary tract gastrointestinal system gut UBERON:0001007 digestive system The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. The renal system in an anatomical system that maintains fluid balance and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products.. In various sources such as Encyclopedia Britannica, the excretory and urinary systems are indeed the same system (see wikipedia talk page); we merge two BTO classes here An anatomical system which consists of organs and tissues which produce, store, and excrete urine.[AAO] Evolution of vertebrate renal anatomy appears quite conservative when compared, for example, to evolution of respiratory and cardiovascular systems in vertebrates. Major anatomical changes in vertebrates kidneys separate those of birds and mammals from kidneys of lower vertebrates. General increase in animal size from fish to mammals is reflected by an increase in total number of nephrons per kidney, rather than by constant change in tubular dimensions.[well established][VHOG] In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels This definition is inclusive of the organs of the vertebrate renal system, as well as the Malpighian tubules of insects, and allows for future incorporation of structures such as the antennal glands of crustaceans excretory system AAO:0010257 BILA:0000015 BTO:0001244 BTO:0003092 CALOHA:TS-1323 EFO:0000803 EHDAA2:0001601 EHDAA:5901 EMAPA:17366 EV:0100095 FBbt:00005056 FMA:7159 GAID:391 MA:0000325 MAT:0000027 MESH:D014551 MIAA:0000027 NCIT:C12413 SCTID:362204003 TADS:0000162 TAO:0000163 UMLS:C1508753 VHOG:0000723 WBbt:0005736 Wikipedia:Excretory_system XAO:0000143 ZFA:0000163 galen:UrinaryTract excretory system renal system systema urinaria systema urinarium urinary system urinary tract uberon renal or urinary system renal/urinary system UBERON:0001008 EDITOR_NOTE In various sources such as Encyclopedia Britannica, the excretory and urinary systems are indeed the same system (see wikipedia talk page); we merge two BTO classes here renal system Organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]. organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis[WP]. the cardiovascular system and the lymphatic system are parts of the circulatory system Anatomical system of ion binding, a pumping mechanism, and an efficient vascular system; consisting of the blood, heart, and blood and lymph vessels, respectively.[AAO] We should divest ourselves of the view that earlier vertebrate groups were 'on their way' to becoming mammals, as clearly they were not such visionaries. Neither were their systems 'imperfect' as earlier anatomists thought. Instead, their circulatory systems served them well to address the ecological demands arising from their lifestyles.[well established][VHOG] AAO:0000959 CALOHA:TS-2103 FBbt:00005057 MESH:D002319 OpenCyc:Mx4rvVjzG5wpEbGdrcN5Y29ycA VHOG:0001248 Wikipedia:Circulatory_system uberon systema cardiovasculare UBERON:0001009 circulatory system http://upload.wikimedia.org/wikipedia/commons/2/29/Circulatory_System_en.svg Portion of connective tissue composed of adipocytes enmeshed in areolar tissue Connective tissue in which fat is stored.[TAO] Tissue that contains adipocytes, used for cushioning, thermal insulation, lubrication (primarily in the pericardium) and energy storage.[AAO] relationship loss: subclass connective tissue proper (AAO:0000099)[AAO] Adipose tissue is unique to vertebrates. It is found in mostmammals, birds, reptiles and amphibians, and a variety is found in some species of fish. Furthermore, in insects the fat body found in larvae as well as in adults shares some homology with adipose tissue.[well established][VHOG] adipose In humans, adipose tissue is located beneath the skin (subcutaneous fat), around internal organs (visceral fat), in bone marrow (yellow bone marrow) and in breast tissue. Adipose tissue is found in specific locations, which are referred to as adipose depots. Adipose tissue contains several cell types, with the highest percentage of cells being adipocytes, which contain fat droplets. Other cell types include fibroblasts, macrophages, and endothelial cells. Adipose tissue contains many small blood vessels.; Mice have eight major adipose depots, four of which are within the abdominal cavity. The paired gonadal depots are attached to the uterus and ovaries in females and the epididymis and testes in males; the paired retroperitoneal depots are found along the dorsal wall of the abdomen, surrounding the kidney, and, when massive, extend into the pelvis. The mesenteric depot forms a glue-like web that supports the intestines, and the omental depot, which originates near the stomach and spleen, and, when massive, extends into the ventral abdomen. in FMA this is dense irregular connective tissue AAO:0000001 AEO:000020 BTO:0001487 CALOHA:TS-0013 EFO:0000790 EHDAA2:0003120 EMAPA:35112 EV:0100381 FMA:20110 GAID:920 MA:0000009 MAT:0000015 MESH:D000273 MIAA:0000015 OpenCyc:Mx4rvVjc_ZwpEbGdrcN5Y29ycA TAO:0002134 UMLS:C0001527 VHOG:0001284 XAO:0003049 ZFA:0005345 galen:FattyTissue fat fat tissue fatty tissue uberon adipose bodyfat fatty depot UBERON:0001013 adipose tissue A subdivision of the muscular system corresponding to a subdisivision of an organism. In FMA this is classified as a set of organs. ZFA musculature system has subtypes, so it is classified here. WBbt muscular system has subtypes so it goes here. Note that we use the MA term set of skeletal muscles here as it seems most appropriate (*not* MA:musculature). AAO is generally confused here. AAO:0011066 BTO:0000887 EFO:0001949 EMAPA:32715 EMAPA:35577 FMA:32558 MA:0000165 NCIT:C13056 OpenCyc:Mx4rvVjmr5wpEbGdrcN5Y29ycA TAO:0000548 UMLS:C0026845 VSAO:0005038 WBbt:0005737 Wikipedia:Muscular_system ZFA:0000548 muscle group muscles set musculature musculi set of muscles set of skeletal muscles uberon muscle system muscles musculature system UBERON:0001015 musculature http://upload.wikimedia.org/wikipedia/commons/e/e5/Muscles_anterior_labeled.png The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior [CUMBO]. A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS). (Source: BioGlossary, www.Biology-Text.com)[TAO] Anatomical system consisting of nerve bodies and nerve fibers which regulate the response of the body to external and internal stimuli.[AAO] Nervous systems evolved in the ancestor of Eumetazoa.[well established][VHOG] nervous neural AAO:0000324 BILA:0000079 BIRNLEX:844 BTO:0001484 CALOHA:TS-1313 EFO:0000802 EHDAA2:0001246 EHDAA:826 EMAPA:16469 EV:0100162 FBbt:00005093 FMA:7157 GAID:466 MA:0000016 MAT:0000026 MESH:D009420 MIAA:0000026 NCIT:C12755 OpenCyc:Mx4rvViT_pwpEbGdrcN5Y29ycA SCTID:278196006 TAO:0000396 UMLS:C0027763 VHOG:0000402 WBbt:0005735 Wikipedia:Nervous_system XAO:0000177 ZFA:0000396 neuronames:3236 neurological system nerve net uberon systema nervosum UBERON:0001016 nervous system http://upload.wikimedia.org/wikipedia/commons/b/b2/TE-Nervous_system_diagram.svg http://upload.wikimedia.org/wikipedia/commons/b/ba/Nervous_system_diagram.png The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the neural tube derivatives: the brain and spinal cord. In invertebrates it includes central ganglia plus nerve cord. Part of the nervous system which includes the brain and spinal cord.[AAO] The brain and spinal cord. Kimmel et al, 1995.[TAO] The central nervous system (CNS) is the part of the nervous system which includes the brain, spinal cord, and nerve cell layer of the retina (CUMBO). (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2); Taken together, our data make a very strong case that the complex molecular mediolateral architecture of the developing trunk CNS (central nervous system), as shared between Platynereis and vertebrates, was already present in their last common ancestor, Urbilateria. The concept of bilaterian nervous system centralization implies that neuron types concentrate on one side of the trunk, as is the case in vertebrates and many invertebrates including Platynereis, where they segregate and become spatially organized (as opposed to a diffuse nerve net). Our data reveal that a large part of the spatial organization of the annelid and vertebrate CNS was already present in their last common ancestor, which implies that Urbilateria had already possessed a CNS (reference 3).[well established][VHOG] AAO:0000090 BAMS:CNS BILA:0000080 BIRNLEX:1099 BTO:0000227 CALOHA:TS-0150 EFO:0000908 EHDAA2:0000225 EHDAA:828 EMAPA:16470 EMAPA:16754 EV:0100163 FBbt:00005094 FMA:55675 GAID:570 MA:0000167 MAT:0000457 MESH:D002490 NCIT:C12438 OpenCyc:Mx4rvzYt3pwpEbGdrcN5Y29ycA SCTID:278199004 TAO:0000012 UMLS:C0927232 VHOG:0000293 Wikipedia:Central_nervous_system XAO:0000215 ZFA:0000012 neuronames:854 CNS systema nervosum centrale cerebrospinal axis uberon neuraxis UBERON:0001017 central nervous system A group of axons linking two or more neuropils and having a common origin, termination[FBbt]. axonal tract neuraxis tract tract of neuraxis nerve tract nerve tract tract axon tract A slender neuron projection bundle[FBbt]; A bundle of anatomical fibers, as of muscle or nerve (American Heritage Dictionary 4th ed). fascicle fasciculus nerve bundle nerve fasciculus neural fasciculus nerve fiber tract nerve fasciculus An enclosed, cable-like bundle of axons in the peripheral nervous system originating in a nerve root in the central nervous system (or a condensed nervous structure) connecting with peripheral structures. nerves peripheral nerve neural subtree nerve Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information. organa sensuum sense organ subsystem sense organs sense organs set sensory subsystem sensory systems organa sensuum sensory organ system set of sense organs sensory system A filament, mostly protein, that grows from follicles found in the dermis[WP]. hair coat hair coat/ hair fur microchaeta quill setulae vibrissa whisker strand of hair Anterior subdivision of a digestive tract. Note we define this generically to include invertebrates (partly for consistency with GO), but the class may be split in future. In vertebrates the term may refer to a developmental structure The anterior portion of the primitive digestive tube of the embryo that lies cephalic to the junction of the yolk stalk, consists of endodermal tissue, and gives rise to the the pharynx, lower respiratory system, esophagus, stomach, duodenum proximal to the biliary tract, liver, pancreas, biliary tract, and gall bladder. The bilaterian gut is typically a complete tube that opens to the exterior at both ends. It consists of mouth, foregut, midgut, hindgut, and anus (reference 1); Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut (reference 2).[well established][VHOG] AAO:0011042 BILA:0000085 BTO:0000507 EHDAA2:0000557 EHDAA:520 EMAPA:16548 FBbt:00005379 FMA:45616 MA:0001526 NCIT:C34180 SCTID:361409009 TGMA:0001014 UMLS:C0231051 VHOG:0000285 Wikipedia:Foregut XAO:0000232 uberon praeenteron proenteron UBERON:0001041 foregut http://upload.wikimedia.org/wikipedia/commons/9/9a/Gray27.png A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. A funnel-shaped fibromuscular tube that conducts food to the ESOPHAGUS, and air to the LARYNYX and LUNGS. It is located posterior to the NASAL CAVITY; ORAL CAVITY; and LARYNX, and extends from the SKULL BASE to the inferior border of the CRICOID CARTILAGE anteriorly and to the inferior border of the C6 vertebra posteriorly. It is divided into the NASOPHARYNX; OROPHARYNX; and HYPOPHARYNX (laryngopharynx)[MESH:A03.867]. Anatomical cavity bounded by the derivatives of the branchial arches.[AAO] Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills. Kimmel et al, 1995.[TAO] Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills[ZFA:0000056, ZFIN:ZDB-PUB-961014-576]. The portion of the alimentary canal between the mouth and the oesophagus. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] relationship type change: part_of_proxy respiratory system (AAO:0000541) CHANGED TO: develops_from respiratory system (UBERON:0001004)[AAO] relationship type change: part_of_proxy respiratory system (AAO:0000541) CHANGED TO: part_of respiratory system (UBERON:0001004)[AAO] (...) the earliest vertebrates possessed unjointed internal and external branchial arches, and musculature encircling the pharynx.[well established][VHOG] MA/FMA pharynx not part of digestive/alimentary system, we are consistent with this scheme pharynx AAO:0000967 BTO:0001049 CALOHA:TS-0785 EFO:0000836 EHDAA2:0001458 EHDAA:2947 EMAPA:16706 EV:0100065 FMA:46688 GAID:155 MA:0000432 MESH:D010614 NCIT:C12425 SCTID:181211006 TAO:0000056 UMLS:C0031354 VHOG:0000462 Wikipedia:Pharynx XAO:0003227 ZFA:0000056 galen:Pharynx uberon UBERON:0001042 Consider generalizing to deuterostome pharynx chordate pharynx Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993). gullet oesophagus esophagus Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. Note we define this generically to include invertebrates (partly for consistency with GO), but the class may be split in future. We may explicitly make this a developmental class The bilaterian gut is typically a complete tube that opens to the exterior at both ends. It consists of mouth, foregut, midgut, hindgut, and anus (reference 1); Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut (reference 2).[well established][VHOG] In humans: originates from the foregut at the opening of the bile duct into the duodenum and continues through the small intestine and much of the large intestine until the transition to the hindgut about two-thirds of the way through the transverse colon in FMA this represents an embryonic region. BILA:0000086 BTO:0000863 EFO:0001950 EHDAA2:0001185 EHDAA:983 EMAPA:16255 FBbt:00005383 FMA:45617 MA:0001564 NCIT:C34210 SCTID:361410004 TGMA:0001036 UMLS:C0231052 VHOG:0000290 Wikipedia:Midgut XAO:0000103 uberon mesenteron UBERON:0001045 midgut http://upload.wikimedia.org/wikipedia/commons/3/3d/Illu_small_intestine.jpg The caudalmost subdivision of a digestive tract. Note we define this generically to include invertebrates (partly for consistency with GO), but the class may be split in future (vertebrates have some contribution from NC - https://github.com/obophenotype/uberon/wiki/The-neural-crest). We may explicitly make this a developmental class the caudal portion of the primitive digestive tube of the embryo The bilaterian gut is typically a complete tube that opens to the exterior at both ends. It consists of mouth, foregut, midgut, hindgut, and anus (reference 1); Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut (reference 2).[well established][VHOG] in FMA this class has no children. In MA it has a single child hindgut epithelium AAO:0011052 BILA:0000087 BTO:0000510 EHDAA2:0000779 EHDAA:975 EMAPA:16715 FBbt:00005384 FMA:45618 MA:0001527 NCIT:C34188 SCTID:362856002 TGMA:0001020 UMLS:C0231053 VHOG:0000459 Wikipedia:Hindgut XAO:0000104 uberon metenteron UBERON:0001046 hindgut http://upload.wikimedia.org/wikipedia/commons/f/f7/Gray472.png Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt, Hartenstein, V. (2004)]. AEO:0000171 BTO:0001886 EFO:0001652 EHDAA2:0003171 FBbt:00005495 FMA:86589 MAT:0000482 NCIT:C34275 UMLS:C0678727 Wikipedia:Primordium XAO:0003043 uberon bud future organ placode primordia rudiment UBERON:0001048 primordium In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural canal (which strictly speaking is the center of the neural tube), the ectodermal wall of which forms the rudiment of the nervous system. [WP,unvetted]. Hollow epithelial tube on dorsal side of the embryo that develops into the central nervous system.[AAO] The dorsal tubular structure in the vertebrate embryo that develops into the brain and spinal cord. [TFD][VHOG] (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...).[well established][VHOG] The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium AAO:0010617 BTO:0001057 CALOHA:TS-2371 DHBA:10154 EHDAA2:0001254 EHDAA:2869 EHDAA:908 EMAPA:16164 EMAPA:16530 EMAPA:16757 FMA:293882 MAT:0000069 MESH:D054259 MIAA:0000069 NCIT:C34226 SCTID:362852000 TAO:0001135 UMLS:C0231024 VHOG:0000307 Wikipedia:Neural_tube XAO:0003204 ZFA:0001135 neuronames:1365 uberon neural primordium presumptive central nervous system tubus neuralis UBERON:0001049 neural tube http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. AAO:0010841 AEO:0000000 BFO:0000004 BILA:0000000 BIRNLEX:6 CARO:0000000 EHDAA2:0002229 FBbt:10000000 FBbt_root:00000000 FMA:62955 HAO:0000000 MA:0000001 NCIT:C12219 TAO:0100000 TGMA:0001822 UMLS:C1515976 WBbt:0000100 XAO:0000000 ZFA:0100000 uberon UBERON:0001062 anatomical entity A duct joining the pancreas to the common bile duct to supply pancreatic juices which aid in digestion provided by the exocrine pancreas. The pancreatic duct joins the common bile duct just prior to the ampulla of Vater, after which both ducts perforate the medial side of the second portion of the duodenum at the major duodenal papilla. pancreatic duct chief pancreatic duct duct of Wirsung main pancreatic duct canal of Wirsung ductus pancreatis ventralis hepaticopancreatic duct ventral pancreatic duct A vein that carries deoxygenated blood from the lower half of the body into the right atrium of the heart. Trunk of systemic vein which is formed by the union of the right common iliac vein and the left common iliac vein and terminates in the right atrium[FMA]. Phylogenetic modifications within this basic pattern of arteries and veins are largely correlated with functional changes. In the transition from water to land, gills gave way to lungs, accompanied by the establishment of a pulmonary circulation. In some fishes and certainly in tetrapods, the cardinal veins become less involved in blood return. Instead, the composite, prominent postcava (posterior vena cava) arose to drain the posterior part of the body and the precava (anterior vena cava) developed to drain the anterior part of the body.[well established][VHOG] AAO:0011083 BTO:0002682 EHDAA2:0000611 EMAPA:18416 FMA:10951 GAID:548 MA:0000480 MESH:D014682 NCIT:C12815 SCTID:181369003 UMLS:C0042458 VHOG:0001194 Wikipedia:Inferior_vena_cava XAO:0000388 galen:InferiorVenaCava inferior caval vein inferior vena cava posterior vena cava uberon caudal vena cava postcava vena cava inferior UBERON:0001072 posterior vena cava http://upload.wikimedia.org/wikipedia/commons/4/4d/Gray577.png Excretion that is the output of a kidney Excretion that is the output of a kidney. kidney excreta from some taxa (e.g. in aves) may not be liquid BTO:0001419 CALOHA:TS-1092 EFO:0001939 EMAPA:36554 ENVO:00002047 FMA:12274 GAID:1189 MA:0002545 MAT:0000058 MESH:D014556 MIAA:0000058 NCIT:C13283 UMLS:C0042036 Wikipedia:Urine galen:Urine uberon UBERON:0001088 urine Joint fluid is a transudate of plasma that is actively secreted by synovial cells. Transudate contained in the synovial cavity of joints, and in the cavity of tendon sheaths and bursae. Portion of organism substance that is a clear fluid that occupies the space in synovial joints.[TAO] It provides nutrients and lubrication for articular cartilage The fluid contains hyaluronan secreted by fibroblast-like cells in the synovial membrane, lubricin (proteoglycan 4; PRG4) secreted by the surface chondrocytes of the articular cartilage and interstitial fluid filtered from the blood plasma BTO:0001339 CALOHA:TS-0996 ENVO:02000039 FMA:12277 GAID:265 MA:0002544 MESH:D013582 NCIT:C33718 TAO:0005154 UMLS:C0039097 Wikipedia:Synovial_fluid ZFA:0005154 galen:SynovialFluid joint fluid uberon UBERON:0001090 synovial fluid Skeletal element within the mouth (or in some species, upper part of the digestive tract) that is composed of dentine and is used in procuring or masticating food. dental element dentine containing tooth tooth vertebrate tooth calcareous tooth Traditional gross anatomy divided the liver into four lobes based on surface features. The falciform ligament is visible on the front (anterior side) of the liver. This divides the liver into a left anatomical lobe, and a right anatomical lobe. hepatic lobe liver lobe lobus hepatis lobe of liver The right lobe is much larger than the left; the proportion between them being as six to one. It occupies the right hypochondrium, and is separated from the left lobe on its upper surface by the falciform ligament; on its under and posterior surfaces by the left sagittal fossa; and in front by the umbilical notch. It is of a somewhat quadrilateral form, its under and posterior surfaces being marked by three fossæ: the porta and the fossæ for the gall-bladder and inferior vena cava, which separate its left part into two smaller lobes; the quadrate and caudate lobes. [WP,unvetted]. liver right lobe lobus hepaticus dexter right liver lobe 2nd lobe gall bladder lobe lobus hepatis dexter right hepatic lobe second lobe right lobe of liver The left lobe is smaller and more flattened than the right. It is situated in the epigastric and left hypochondriac regions. Its upper surface is slightly convex and is moulded on to the diaphragm; its under surface presents the gastric impression and omental tuberosity. [WP,unvetted]. left liver lobe liver left lobe lobus hepaticus sinister left hepatic lobe lobus hepatis sinister left lobe of liver The parathyroid gland is an endocrine gland for secretion of parathyroid hormone, usually found as a pair, embedded in the connective tissue capsule on the posterior surface of the thyroid gland. Parathyroid regulates calcium and phosphorous metabolism. parathyroid epithelial body parathyroid secreting cell parathyroid gland Muscle tissue composed of cardiac muscle cells, forming the muscles of the heart[ZFA,modified]. cardiac muscle cardiac muscle muscle tissue cardiac muscle textus muscularis heart muscle muscle tissue heart muscle textus muscularis heart myocardium muscle tissue heart myocardium textus muscularis muscle of heart muscle tissue muscle of heart textus muscularis muscle tissue of cardiac muscle muscle tissue of heart muscle muscle tissue of heart myocardium muscle tissue of muscle of heart muscle tissue of myocardium myocardium muscle tissue myocardium textus muscularis textus muscularis of cardiac muscle textus muscularis of heart muscle textus muscularis of heart myocardium textus muscularis of muscle of heart textus muscularis of myocardium cardiac musculature cardiac muscle tissue Muscle tissue that consists primarily of skeletal muscle fibers. TODO - add skeletal muscle organ? See GO:0060538 skeletal muscle organ development. Todo - group FBbt:00005073 - somatic muscle. Muscle, composed of long cylindrical, multinucleated cells that attaches to the skeleton via tendons.[TAO] Tissue which consists of skeletal muscle fibers surrounded by endomysium. Examples: Skeletal muscle tissue of biceps, Skeletal muscle tissue of diaphragm[FMA] This result implies the following views in terms of evolutionary differentiation: (1) Arthropod striated muscle and vertebrate skeletal and cardiac muscles share a common ancestor. In other words, they did not evolve independently (...) (5) The divergence of vertebrate skeletal and cardiac muscles/vertebrate smooth muscle and nonmuscle is at least before that of vertebrates/arthropods. In other words, emergence of skeletal and cardiac musle type tissues preceded the vertebrate/arthropod divergence (ca. 700 MYA).[well established][VHOG] skeletal muscle EMAPA:32716 FMA:14069 MA:0002439 NCIT:C13050 UMLS:C0242692 uberon skeletal muscle system somatic muscle UBERON:0001134 skeletal muscle tissue Muscle tissue which is unstriated, composed primarily of smooth muscle fibers surrounded by a reticulum of collagen and elastic fibers. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length[GO]. A non-striated muscle that is composed of spindle-shaped cells. Smooth muscle usually is organized into sheets that line cavitated organs.[TAO] Involuntary muscle tissue consisting of uninucleate spindle-shaped fibers.[AAO] (...) the first bilateral animals possessed only smooth muscles with the molecular repertoire necessary to build a striated muscle. (...) it is more parsimonious to regard striated muscle cells as a sister cell type to the smooth muscle cells. In this scenario, striated and smooth muscles would have arisen in the stem lineage that led to the Nephrozoa (i.e. all Bilateria exclusive the acoelomorphs) (Hejnol et al., 2009), from an 'acoel-like' smooth muscle, by segregation and divergence of functions and through differential recruitment of additional genes[well established][VHOG] GO uses visceral and smooth interchangeably. However visceral can also be used in the sense of the viscera. Many fly annotations to smooth muscle terms. If we want to be inclusive of insects have to have a general definition of tissue that includes cells. AAO:0010244 AEO:0000141 BTO:0001260 CALOHA:TS-0943 EFO:0000889 EHDAA2:0003141 EMAPA:32717 EV:0100378 FMA:14070 GAID:167 MA:0000166 MAT:0000303 MESH:D009130 MIAA:0000303 NCIT:C12437 TAO:0005274 UMLS:C1267092 VHOG:0001246 WBbt:0005781 Wikipedia:Smooth_muscle_tissue XAO:0000175 ZFA:0005274 galen:SmoothMuscle galen:SmoothMuscleTissue involuntary muscle non-striated muscle smooth muscle textus muscularis nonstriatus visceral muscle visceral muscle tissue uberon textus muscularis levis; textus muscularis nonstriatus UBERON:0001135 smooth muscle tissue https://upload.wikimedia.org/wikipedia/commons/3/3b/Glatte_Muskelzellen.jpg Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. Wikipedia: The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri). Simple squamous epithelium of mesodermal origin which lines serous membranes. Examples: mesothelium of pleura, mesothelium of peritoneum[FMA]. http://en.wikipedia.org/wiki/ The mesothelium is a membrane that forms the lining of several body cavities: the pleura (thoracal cavity), peritoneum (abdominal cavity including the mesentery) and pericardium (heart sac). Mesothelial tissue also surrounds the male internal reproductive organs (the tunica vaginalis testis) and covers the internal reproductive organs of women (the tunica serosa uteri). AEO:0000111 BTO:0002422 CALOHA:TS-1183 EHDAA2_RETIRED:0003111 EHDAA:2331 EHDAA:2349 EHDAA:295 EHDAA:6073 EHDAA:640 EHDAA:646 EMAPA:32856 FMA:14074 MA:0000565 NCIT:C33105 SCTID:361918002 UMLS:C0086610 Wikipedia:Mesothelium uberon UBERON:0001136 mesothelium http://upload.wikimedia.org/wikipedia/commons/2/25/Mesothelium_peritoneal_wash_high_mag.jpg A major subdivision of an organism that is the entire part of the organism dorsal to a horizontal plane and bounded on one side by the same transverse plane. In vertebrares this includes the vertebral column.. back back of body proper dorsal part of organism dorsum Either of the pair of major vessels which arise from the renal hilus and return blood from the kidneys, suprarenal gland and the ureter to the inferior vena cava. The renal veins are veins that drain the kidney. They connect the kidney to the inferior vena cava. It is usually singular to each kidney, except in the condition 'multiple renal veins'. It also divides into 2 divisions upon entering the kidney: the anterior branch which receives blood from the anterior portion of the kidney and, the posterior branch which receives blood from the posterior portion. Often, each renal vein will have a branch that receives blood from the ureter. [WP,unvetted][Wikipedia:Renal_vein]. in EHDAA2, the renal vein is part of the kidney BTO:0002681 EHDAA2:0001602 EHDAA:8722 EMAPA:28376 FMA:14334 GAID:544 MA:0002210 MESH:D012082 NCIT:C33462 SCTID:116358006 UMLS:C0035092 Wikipedia:Renal_vein galen:RenalVein kidney vein renal venous tree vein of kidney uberon venae renales UBERON:0001140 renal vein http://upload.wikimedia.org/wikipedia/commons/7/76/Gray1122.png https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Blood_Vasculature.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Blood_Vasculature.glb the tubular structure that conducts gall bladder contents from the gall bladder to the common bile duct ductus cysticus cystic duct The body of stomach is the part of the stomach that lies between the fundus above and the pyloric antrum below; its boundaries are poorly defined[GO]. corpus gastricum (ventriculare) gastric body stomach body corpus gastricum corpus ventriculare corpus ventriculi gastric corpus body of stomach the area at the bottom of the stomach on the caudal side of the pyloric canal that contains gastrin-producing G cells, which stimulate acid production, and the luminal pH-sensitive population of somatostatin-producing D cells antrum antrum of stomach stomach pyloric antrum antrum of Willis antrum pylori antrum pyloricum gastric antrum stomach antrum pyloric antrum the stomach tissue region surrounding and controlling the distal outlet of the stomach, which opens into the duodenum pars pylorica pars pylorica gastricae pyloric part of stomach pyloric region stomach pyloric region valvula pylori pylorus the layered structure that makes up the stomach, typiclly consists of a serous coat, a muscular coat, a mucous membrane, and other tissue layers in between anatomical wall of stomach anatomical wall of ventriculus gastric wall stomach anatomical wall stomach wall ventriculus anatomical wall ventriculus wall wall of ventriculus wall of stomach An anatomical wall that is part of a small intestine [Automatically generated definition]. anatomical wall of small bowel anatomical wall of small intestine small bowel anatomical wall small bowel wall small intestinal wall small intestine anatomical wall small intestine wall wall of small bowel wall of small intestine The triangular region on the periphery of the liver lobules that contain a bile duct and a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel. portal lobule The functional unit of the liver, consisting of a mass of hepatocytes from adjacent liver lobules aligned around the hepatic arterioles and portal venules just as they anastomose into sinusoids. liver acinus portal acinus hepatic acinus A complex network of conduits that begins with the canals of Hering (intralobar bile duct) and progressively merges into a system of interlobular, septal, and major ducts which then coalesce to form the extrahepatic bile ducts, which finally deliver bile to the intestine, and in some species to the gallbladder. biliary tract biliary tree the part of the biliary tree formed by the union of the cystic duct and the common hepatic duct ductus choledochus (biliaris) ductus choledochus common bile duct Predominantly extrahepatic bile duct which is formed by the junction of the right and left hepatic ducts, which are predominantly intrahepatic, and, in turn, joins the cystic duct to form the common bile duct[GAID]. The common hepatic duct is the duct formed by the convergence of the right hepatic duct (which drains bile from the right functional lobe of the liver) and the left hepatic duct (which drains bile from the left functional lobe of the liver). The common hepatic duct then joins the cystic duct coming from the gallbladder to form the common bile duct[WP]. ductus hepaticus communis hepatic duct common hepatic duct The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct. ductus hepaticus dexter right hepatic duct The duct that drains bile from the left half of the liver and joins the right hepatic duct to form the common hepatic duct. ductus hepaticus sinister left hepatic duct One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates. AAO:0010223 BTO:0001165 EFO:0002552 EHDAA2:0004100 EHDAA:5321 EHDAA:8594 EMAPA:28373 FMA:14751 GAID:507 MA:0002035 MESH:D012077 NCIT:C12778 RETIRED_EHDAA2:0001600 SCTID:181339005 TAO:0000420 Wikipedia:Renal_artery ZFA:0000420 galen:RenalArtery renal arterial tree arteria renalis renal arteries UBERON:0001184 renal artery An artery that supplies the liver. arteria hepatica propria arteria hepatica hepatic artery The mucosal layer that lines the stomach. gastric mucosa gastric mucous membrane mucosa of organ of stomach mucosa of organ of ventriculus mucosa of ventriculus mucous membrane of stomach mucous membrane of ventriculus organ mucosa of stomach organ mucosa of ventriculus stomach mucosa stomach mucosa of organ stomach mucous membrane stomach organ mucosa tunica mucosa (gaster) tunica mucosa gastricae ventriculus mucosa ventriculus mucosa of organ ventriculus mucous membrane ventriculus organ mucosa Magenschleimhaut tunica mucosa gastris mucosa of stomach A strong ring of smooth muscle at the end of the pyloric canal which lets food pass from the stomach to the duodenum. It receives sympathetic innervation from the celiac ganglion[WP]. pyloric valve pyloric sphincter A mucosa that is part of a small intestine [Automatically generated definition]. mucosa of organ of small bowel mucosa of organ of small intestine mucosa of small bowel mucous membrane of small bowel mucous membrane of small intestine organ mucosa of small bowel organ mucosa of small intestine small bowel mucosa small bowel mucosa of organ small bowel mucous membrane small bowel organ mucosa small intestinal mucosa small intestine mucosa small intestine mucosa of organ small intestine mucous membrane small intestine organ mucosa tunica mucosa (intestinum tenue) tunica mucosa intestini tenuis mucosa of small intestine A funnel shaped proximal portion of the ureter that is formed by convergence of the major calices [MP]. CALOHA:TS-2230 EMAPA:17948 FMA:15575 GAID:426 MA:0000374 MESH:D007682 NCIT:C12887 SCTID:362221007 UMLS:C0227666 Wikipedia:Renal_pelvis galen:RenalPelvis kidney pelvis pelvis of ureter uberon p. renallis pyelum UBERON:0001224 In this ontology, the renal pelvis is represented as the area of part-overlap between the kidney and the ureter renal pelvis https://upload.wikimedia.org/wikipedia/commons/c/c0/Illu_kidney2.jpg Outer cortical portion of the kidney, between the renal capsule and the renal medulla. In the adult metanephros, it forms a continuous smooth outer zone with a number of projections that extend down between the pyramids. It contains the renal corpuscles and the renal tubules except for parts of the loop of Henle which descend into the renal medulla. It also contains blood vessels and cortical collecting ducts. The renal cortex is the part of the kidney where ultrafiltration occurs.[WP] BTO:0001166 CALOHA:TS-0503 EMAPA:17952 FMA:15581 GAID:424 MA:0000372 MESH:D007672 NCIT:C12739 SCTID:362211004 UMLS:C0022655 Wikipedia:Renal_cortex galen:CortexOfKidney cortex renalis kidney cortex renal cortex uberon UBERON:0001225 cortex of kidney https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Kidney_L.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Kidney_R.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Kidney_L.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Kidney_R.glb https://upload.wikimedia.org/wikipedia/commons/6/69/Illu_kidney.jpg Tip of renal pyramid projecting into a minor calyx. BTO:0003925 EMAPA:35727 FMA:15622 MA:0002730 MESH:D007679 NCIT:C33460 SCTID:362214007 UMLS:C0022666 Wikipedia:Renal_papilla galen:RenalPapilla kidney papilla uberon UBERON:0001228 renal papilla https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Ureter_L.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Ureter_R.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Kidney_L.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Kidney_R.glb https://upload.wikimedia.org/wikipedia/commons/7/7e/Kidney_PioM.png The structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron. the structure containing the glomerular capsule and the glomerulus that serves as the initial blood-filtering component of a nephron A mass of arterial capillaries enveloped in a capsule and attached to a tubule in the kidney[BTO] A tuft of capillaries found in a Bowman's capsule in which waste products are filtered from the blood and urine formation is initiated. Paired highly vascularized structures of the pronephros, responsible for blood filtration.[XAO] The part of the nephron that filters blood.[TAO] BTO:0000333 CALOHA:TS-1317 EMAPA:28236 EMAPA:35726 EV:0100385 FMA:15625 MA:0000376 NCIT:C33456 SCTID:361329009 TAO:0005281 UMLS:C0227635 VHOG:0001262 Wikipedia:Renal_corpuscle ZFA:0005281 Malphigian corpuscle Malpighian corpuscle corpusculum renale uberon corpusculum renis cortical renal corpuscle kidney corpuscle UBERON:0001229 Together, the Bowmans capsule and the glomerulus comprise the definitive renal corpuscle. http://www.gudmap.org/About/Tutorial/DevMUS.html#DMK_Nephron renal corpuscle https://upload.wikimedia.org/wikipedia/commons/2/22/Renal_corpuscle.svg A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus A cup-like sac at the expanded beginning of a tubular component of a nephron that contains the glomerulus. Anatomical structure found in the kidney consisting of an expanded end of a kidney tubule surrounding a glomerulus and is the major site of filtration.[AAO] Fluids from blood in the glomerulus are collected in the Bowman's capsule and further processed along the nephron to form urine. This process is known as ultrafiltration[WP]. One fold of the S-shaped body gives rise to Bowman's capsule[GUDMAP] AAO:0010526 BTO:0002297 EMAPA:27973 EMAPA:28257 FMA:15626 KUPO:0001001 MA:0001660 NCIT:C32225 SCTID:361331000 TAO:0005254 TAO:0005310 UMLS:C0524448 Wikipedia:Bowman%27s_capsule ZFA:0005254 ZFA:0005310 Bowman's capsule Bowmans capsule capsula glomerularis renal glomerular capsule uberon Bowman's capsule Malphigian capsule Malpighian capsule Mueller capsule Muellerian capsule capsula glomeruli pronephric glomerular capsule UBERON:0001230 glomerular capsule http://upload.wikimedia.org/wikipedia/commons/3/30/Gray1130.svg An epithelial tube that is part of the nephron, the functional part of the kidney. note that in ISBN:0073040584 (Vertebrates, Kardong), the uriniferous tubule contains the nephron, so we have a separate class, rather than using a synonym, as in MA UBERON:0004210 renal tubule BTO:0000343 CALOHA:TS-1262 EFO:0003666 EMAPA:27782 EV:0100387 FMA:15627 GAID:433 MA:0000377 MESH:D007684 NCIT:C49274 SCTID:361332007 TAO:0001287 UMLS:C0022674 Wikipedia:Renal_tubule ZFA:0001287 kidney tubule tubulus renalis uberon uriniferous tubule UBERON:0001231 nephron tubule The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient. Renal duct that collects the output from renal tubules.[TAO] in ISBN:0073040584 (Vertebrates, Kardong), the nephron is adjacent to the collecting tubule, consistent with FMA, but not GO. Wikipedia says: Many sources include the connecting tubule as part of the collecting duct system. However, the embryological origin is more similar to the nephron than it is to the rest of the collecting duct (which derives from the ureteric bud), and other sources therefore classify the connecting tubule with the nephron BTO:0000761 CALOHA:TS-0860 EMAPA:28407 EV:0100391 FMA:15628 GAID:434 MA:0000371 MESH:D007685 SCTID:28202009 TAO:0005294 Wikipedia:Collecting_tubule ZFA:0005294 collecting duct kidney collecting duct renal collecting tubule tubulus renalis arcuatus tubulus renalis colligens uberon arcuate renal tubule collecting duct system collecting tubule junctional tube kidney collecting tubule ureteric tree UBERON:0001232 collecting duct of renal tubule the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone adrenal gland cortex cortex (glandula suprarenalis) cortex of adrenal gland cortex of suprarenal gland suprarenal cortex cortex glandulae suprarenalis suprarenal adrenal cortex Mucosal layer that lines the intestine. bowel mucosa bowel mucosa of organ bowel mucous membrane bowel organ mucosa intestine mucosa intestine mucosa of organ intestine mucous membrane intestine organ mucosa mucosa of bowel mucosa of intestine mucosa of organ of bowel mucosa of organ of intestine mucous membrane of bowel mucous membrane of intestine organ mucosa of bowel organ mucosa of intestine tunica mucosa intestini intestinal mucosa Orifice at the opposite end of an animal's digestive tract from the mouth. Its function is to expel feces, unwanted semi-solid matter produced during digestion, which, depending on the type of animal, may be one or more of: matter which the animal cannot digest, such as bones; food material after all the nutrients have been extracted, for example cellulose or lignin; ingested matter which would be toxic if it remained in the digestive tract; and dead or excess gut bacteria and other endosymbionts. anal In the lungfish, sharks and rays the rectum opens into the cloaca which also receives wastes (urine) from the kidneys and material from the reproductive organs. In bony fish the rectum reaches the outside environment through the anus, which is normally situated just in front the urinary and reproductive openings. However in some fish the digestive tract may be curled back on itself, and in the Electric Eel (Electrophorus electricus) the anus is situated in the fish's throat. -- http://www.earthlife.net/fish/digestion.html BTO:0001680 CALOHA:TS-2005 EV:0100082 FBbt:00047153 FMA:15711 GAID:312 MA:0000331 NCIT:C43362 SCTID:181262009 TADS:0000066 TGMA:0001279 UMLS:C0003461 WBbt:0005364 Wikipedia:Anus galen:Anus anal opening anal orifice opening of terminal part of digestive tract uberon proctodeum UBERON:0001245 anus http://upload.wikimedia.org/wikipedia/commons/6/65/Protovsdeuterostomes.svg http://upload.wikimedia.org/wikipedia/commons/7/75/Anorectum.gif The canals that carry bile in the liver between the intralobular ducts and the biliary ductules; interlobular bile ducts are part of the interlobular portal triad. interlobular ductule interlobular bile duct Distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]. distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]. A saccular organ in which urine accumulates before discharge from the body. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] Anatomical structure which consists of a membranous sac used to temporarily store urine until it is excreted from the body.[AAO] In tetrapods, the urinary bladder arises as an outpocketing of the cloaca. (...) The tetrapod urinary bladder appears first among amphibians and is present in Sphenodon, turtles, most lizards, ostriches among birds, and all mammals.[well established][VHOG] vesical The urinary bladder evolved in tetrapods. Birds to not possess a true urinary bladder, although Palaeognathae have an undifferentiated cloacal outpocketing that serves a similar function[https://github.com/obophenotype/uberon/issues/454] bladder AAO:0000623 BTO:0001418 CALOHA:TS-1090 EFO:0000290 EHDAA2:0000174 EHDAA:9328 EMAPA:18321 EV:0100098 FMA:15900 GAID:0000004 MA:0000380 MAT:0000122 MESH:D001743 MIAA:0000122 NCIT:C12414 SCTID:302512001 UMLS:C0005682 VHOG:0000740 Wikipedia:Urinary_bladder XAO:0000154 galen:UrinaryBladder vesica urinaria uberon urocyst vesica UBERON:0001255 urinary bladder https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Urinary_Bladder.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Urinary_Bladder.glb https://upload.wikimedia.org/wikipedia/commons/3/30/Urinary_system.svg An anatomical wall that lines the insider of a urinary bladder. anatomical wall of bladder anatomical wall of urinary bladder bladder anatomical wall bladder wall urinary bladder anatomical wall urinary bladder wall wall of bladder wall of urinary bladder the mucous membrane lining the urinary bladder bladder mucosa bladder mucous membrane bladder organ mucosa mucosa of bladder mucous membrane of bladder mucous membrane of urinary bladder tunica mucosa (vesica urinaria) tunica mucosa vesicae tunica mucosa vesicae urinariae urinary bladder mucosa urinary bladder mucous membrane mucosa of urinary bladder An anatomical wall that is part of a intestine [Automatically generated definition]. anatomical wall of bowel anatomical wall of intestine bowel anatomical wall bowel wall intestinal wall intestine anatomical wall intestine wall wall of bowel bowel wall wall of intestine The secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct. acinus pancreaticus pancreas acinus pancreatic acinar pancreatic acini pancreatic acinus An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. pancreas The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. The organism subdivision that includes the pelvic girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pelvic girdle regions. this class describes the subdivision of the limb/fin, NOT the skeleton within. See also: skeleton of pectoral girdle (UBERON:0007831). See also comments on obo-anatomy mail list. Note that even though the class includes soft tissue it is more restrictive than 'pelvis' which also includes structures in cavities etc. TODO this needs to be better documented Subdivision of lower limb or fin which links the limb/fin to the body[FMA,modified]. There is only one instance of the pelvic girdle region per organism.[VSAO] EMAPA:37862 FMA:16581 NCIT:C33291 SCTID:360010001 UMLS:C0684083 VSAO:0000304 uberon girdle - pelvic pelvic girdle UBERON:0001271 pelvic girdle region The epithelial layer of the stomach . epithelial tissue of stomach epithelial tissue of ventriculus epithelium of ventriculus stomach epithelial tissue stomach epithelium ventriculus epithelial tissue ventriculus epithelium gastric epithelium epithelium of stomach A multi-organ-part structure that consists of three vessels of the portal lobule including the bile duct, a terminal branch of the hepatic artery and portal vein, and may also include a lymphatic vessel trias hepatica trias hepatica portal triad The functional units of the liver including the lobules. hepatic parenchyma liver parenchyme parenchyma of liver hepatic parenchyme liver parenchyma the tubules located between the bile canaliculi and interlobular bile ducts near the outer edge of a classic liver lobule canal of Herring cholangiole ductus interlobularis bilifer canal of Hering canals of Hering duct of Herring intrahepatic bile ductule intralobular bile duct The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP] The basic functional unit of the kidney. its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine. A nephron eliminates wastes from the body, regulates blood volume and blood pressure, controls levels of electrolytes and metabolites, and regulates blood pH. Its functions are vital to life and are regulated by the endocrine system by hormones such as antidiuretic hormone, aldosterone, and parathyroid hormone.[WP]. kidney terms require review for cross-vertebrate compatibility and developmental relationships. Functional unit of the kidney that filters waste.[TAO] In the avian kidney, three types of nephron are identified: mammalian-type nephrons with long and short loops of Henle, and reptilian type nephrons (Gambaryan, 1992) BTO:0000924 CALOHA:TS-1312 EMAPA:28491 EMAPA:35592 EV:0100384 FMA:17640 GAID:428 MA:0000375 MESH:D009399 NCIT:C13048 SCTID:361337001 TAO:0002153 UMLS:C0027713 Wikipedia:Nephron ZFA:0005282 mature nephron uberon nephroneum tubulus renalis UBERON:0001285 nephron http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png A narrow chalice-shaped cavity between the glomerular and capsular epithelium of the glomerular capsule of the kidney[TFD]. Between the visceral and parietal layers, into which the filtrate enters after passing through the podocytes' filtration slits[WP]. luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries[MP]. TODO - fix ZFA Space between the renal glomerulus and the glomerular capsule. Renal filtrate collects here then passes into the renal tubule.[TAO] EMAPA:27985 EMAPA:28263 FMA:17676 MA:0001664 NCIT:C33840 SCTID:244284006 TAO:0005283 TAO:0005312 UMLS:C0227643 Wikipedia:Bowman's_space ZFA:0005283 ZFA:0005312 Bowman's space capsular space glomerular capsule space glomerular urinary space inter-glomerular space pronephric capsular space renal capsular space urinary space urinary space of renal corpuscle uberon Bowmanb%s space UBERON:0001286 Bowman's space The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule. Renal tubule that connects to the renal corpuscle.[TAO] CALOHA:TS-2198 EMAPA:28287 EV:0100388 FMA:17693 MA:0001669 NCIT:C33417 SCTID:362220008 TAO:0005290 UMLS:C1514580 Wikipedia:Proximal_convoluted_tubule ZFA:0005290 proximal convoluted renal tubule tubulus contortus proximalis uberon 1st convoluted tubule PCT first convoluted tubule kidney proximal convoluted tubule renal proximal convoluted tubule tubulus contortus proximalis tubulus convolutus proximalis UBERON:0001287 proximal convoluted tubule http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png The section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine. the section of the renal tubule in the kidney medulla with a hairpin bend; consists of a descending limb and an ascending limb, and is situated between the proximal convoluted tubule to the distal convoluted tubule; it functions to reabsorb water and ions from the urine the definitions of some kidney parts (e.g. proximal straight tubule) refer to Henle's loop, even in species where this may not be present. Requires review. A highly specialized segment of the mammalian kidney tubules, that dips into the medulla. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Grande_L, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF, p.648, see_Liem_KF][VHOG] The structure differs considerably between species; there is a definite physical loop of Henle in the mammalian and avian renal systems but this seems to be absent in Xenopus. However, homologs of some, but not all, molecular markers (e.g. cldn8 and clcnk) of the mammalian loop of Henle were found to be present in the pronephros of the frog larva . The loop of Henle plays an important role in creating a concentration gradient in the medulla of the kidney. It is involved in reabsorption of filtered water and ions including sodium, potassium and calcium, and independently regulates both the volume and osmolarity of body fluids. BTO:0004608 EMAPA:19280 EV:0100390 FMA:17698 GAID:437 MA:0001675 MESH:D008138 NCIT:C33006 SCTID:361335009 UMLS:C0023986 VHOG:0001270 Wikipedia:Loop_of_Henle Henle loop Henle's loop ansa nephroni uberon UBERON:0001288 loop of Henle http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png The portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure. the portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure descending limb EMAPA:35511 FMA:17705 MA:0001679 NCIT:C32456 SCTID:245350001 UMLS:C0227657 Wikipedia:Descending_limb_of_loop_of_henle descending limb of Henle's loop loop of Henle descending limb uberon UBERON:0001289 descending limb of loop of Henle http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png The proximal straight tubule is the part of the descending limb that extends from the proximal convoluted tubule to the descending thin tubule. TODO - is S3 exactly coincident with PST? todo - ensure relationships work across species (loop of Henle) Portion of the renal tubule which is just posterior to the proximal convoluted tubule.[TAO] UBERON:0005166 BTO:0000055 EMAPA:29661 EMAPA:29669 FMA:17716 MA:0002614 TAO:0005291 Wikipedia:Proximal_straight_tubule ZFA:0005291 S3 thick descending limb of proximal tubule tubulus rectus proximalis uberon pars recta pars recta tubuli renalis proximal tubule segment 3 segment 3 of proximal tubule UBERON:0001290 proximal straight tubule The distal sub-portion of the ascending loop of Henle which is lined by simple cuboidal epithelium and enters the renal cortex to empty a hypotonic filtrate into the distal convoluted tubule. TODO - thick/thin check. Also - does the loop of Henle overlap the distal convoluted tubule? FMA divides DCT into straight and convoluted portions EMAPA:28396 EMAPA:29671 EMAPA:35512 FMA:17722 MA:0001677 SCTID:244953001 Wikipedia:Thick_ascending_limb_of_loop_of_Henle ascending thick limb distal straight tubule loop of Henle ascending limb thick segment straight portion of distal convoluted renal tubule straight portion of distal convoluted tubule thick ascending limb thick ascending limb of Henle's loop thick ascending limb of distal tubule tubulus rectus distalis uberon tubulus rectus distalis UBERON:0001291 thick ascending limb of loop of Henle http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa. a portion of kidney nephron between the loop of Henle and the collecting duct system[Wikipedia:Distal_convoluted_tubule]. in humans it is responsible for the reabsorption of about 5% of filtered sodium via the thiazide-sensitive Na-Cl symporter. EMAPA:28393 EV:0100389 FMA:17721 MA:0001666 NCIT:C32469 SCTID:361336005 UMLS:C0022676 Wikipedia:Distal_convoluted_tubule distal convoluted renal tubule tubulus contortus distalis uberon second convoluted tubule tubulus contortus distalis tubulus convolutus distalis UBERON:0001292 distal convoluted tubule https://upload.wikimedia.org/wikipedia/commons/2/21/Kidney_nephron.png The renal outer medulla is the region of the kidney that lies between the renal cortex and the renal inner medulla[GO]. BTO:0001746 CALOHA:TS-0508 EMAPA:28310 FMA:17733 MA:0001653 outer renal medulla outer zone of medulla of kidney outer zone of renal medulla renal outer medulla zona externa (medullaris renalis) zona externa medullae renalis uberon kidney outer medulla set of outer region of renal pyramids UBERON:0001293 outer medulla of kidney Innermost region of the mammalian kidney. unique to mammals BTO:0001745 CALOHA:TS-0506 EMAPA:28349 FMA:17734 MA:0001652 inner renal medulla inner zone of medulla of kidney inner zone of renal medulla renal inner medulla set of inner region of renal pyramids zona interna (medullaris renalis) zona interna medullae renalis uberon kidney inner medulla UBERON:0001294 inner medulla of kidney The anus and surrounding regions. Encompasses both internal and external regions, where present The anus and surrounding regions. Encompasses both internal and external regions, where present. Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] EFO:0000847 EHDAA2:0000122 EHDAA:2931 EMAPA:16831 MA:0000329 MAT:0000042 MIAA:0000042 NCIT:C32069 SCTID:362680001 UMLS:C0230120 VHOG:0000395 WBbt:0006919 uberon posterior posterior end of organism UBERON:0001353 anal region https://github.com/obophenotype/uberon/issues/507 http://upload.wikimedia.org/wikipedia/commons/f/fb/Gray408.png An organism subdivision that includes the pectoral girdle skeleton and associated soft tissue. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). Examples: There are only two instances in an organism, right and left pectoral girdle regions. this class describes the organism subdivision, NOT the skeleton within. See also: skeleton of pectoral girdle (UBERON:0007831). An organism subdivision that includes the pectoral girdle skeleton. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). There is only one instance of the pectoral girdle region per organism.[VSAO] Note that this class describes the central subdivision of the pectoral girdle complex, NOT the skeleton within.[VSAO] EMAPA:37856 FMA:23217 SCTID:229759004 VSAO:0000305 galen:ShoulderGirdle cingulum membri superioris girdle - pectoral cingulum membri superioris shoulder girdle upper limb girdle uberon pectoral girdle pectoral region UBERON:0001421 pectoral girdle region Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. Anatomical system consisting of multiple elements and tissues that provides physical support.[TAO] Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system.[VSAO] System that provides physical support to the organism.[AAO] By taking a holistic approach, integration of the evidence from molecular and developmental features of model organisms, the phylogenetic distribution in the 'new animal phylogeny' and the earliest fossilized remains of mineralized animal skeletons suggests independent origins of the skeleton at the phylum level.[debated][VHOG] skeletal GO defines skeletal system very generically: The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) GO:0001501; however, all annotations are to vertebrates AAO:0000566 BTO:0001486 CALOHA:TS-1320 EFO:0000806 EHDAA2:0003168 EMAPA:35773 FMA:23881 MA:0000018 NCIT:C12788 OpenCyc:Mx4rvVi1rpwpEbGdrcN5Y29ycA TAO:0000434 UMLS:C0037253 VHOG:0001254 VSAO:0000027 XAO:0003060 ZFA:0000434 skeleton system set of all bones and joints uberon Skelettsystem UBERON:0001434 skeletal system https://github.com/obophenotype/uberon/wiki/The-skeletal-system Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. anterolateral part of thorax front of thorax pectus ventral part of thoracic region thoracic body wall thorax chest head subdivision head region region of head subdivision of head A subdivision of the head that has as parts the layers deep to the surface of the anterior surface, including the mouth, eyes, and nose (when present). In vertebrates, this includes the facial skeleton and structures superficial to the facial skeleton (cheeks, mouth, eyeballs, skin of face, etc). facia/facies visage face Skeletal element that is composed of bone tissue. Also called osseous tissue, (Latin: os). Is a type of hard endoskeletal connective tissue found in many vertebrate animals. Bone is the main tissue of body organs that support body structures, protect internal organs, (in conjunction with muscles) facilitate movement; and are involved with cell formation, calcium metabolism, and mineral storage.[AAO] Portion of tissue which is calcified connective tissue making up the structural elements of the skeletal system.[TAO] Skeletal element that is composed of bone tissue.[VSAO] relationship loss: subclass specialized connective tissue (AAO:0000571)[AAO] The 'new animal phylogeny' reveals that many of the groups known to biomineralize sit among close relatives that do not, and it favours an interpretation of convergent or parallel evolution for biomineralization in animals. (...) Whether this 'biomineralization toolkit'of genes reflects a parallel co-option of a common suite of genes or the inheritance of a skeletogenic gene regulatory network from a biomineralizing common ancestor remains an open debate.[debated][VHOG] AAO:0000047 AEO:0000082 BTO:0000140 CALOHA:TS-0088 EFO:0000298 EHDAA2:0003082 EMAPA:32782 ENVO:00002039 EV:0100140 FMA:30317 FMA:5018 GAID:92 MA:0001459 MAT:0000299 MIAA:0000299 NCIT:C12366 OpenCyc:Mx4rvViDlpwpEbGdrcN5Y29ycA OpenCyc:Mx4rvVkCG5wpEbGdrcN5Y29ycA SCTID:90780006 TAO:0001514 UMLS:C0262950 VHOG:0001190 VSAO:0000057 Wikipedia:Bone XAO:0000169 ZFA:0001514 galen:Bone bone element bone organ uberon bone bones UBERON:0001474 bone element An articular capsule (or joint capsule) is an envelope surrounding a synovial joint. [WP,unvetted]. check ncita EMAPA:37621 FMA:34836 GAID:263 MA:0001519 MESH:D017746 NCIT:C32259 NCIT:C84388 SCTID:182238002 UMLS:C0206207 Wikipedia:Articular_capsule galen:JointCapsule capsula articularis fibrous capsule of joint joint capsule joint fibrous capsule uberon capsulae articulares UBERON:0001484 articular capsule http://upload.wikimedia.org/wikipedia/commons/1/19/Joint.png http://upload.wikimedia.org/wikipedia/commons/4/4a/Gray299.png The ascending aorta is the portion of the aorta in a two-pass circulatory system that lies between the heart and the arch of aorta[GO]. A portion of the aorta commencing at the upper part of the base of the left ventricle, on a level with the lower border of the third costal cartilage behind the left half of the sternum; it passes obliquely upward, forward, and to the right, in the direction of the heart's axis, as high as the upper border of the second right costal cartilage, describing a slight curve in its course, and being situated, about 6 cm behind the posterior surface of the sternum. The total length is about 5 cm in length [Wikipedia]. EHDAA2:0000147 EHDAA:9828 EMAPA:17014 FMA:3736 MA:0002570 NCIT:C32150 SCTID:181299009 Wikipedia:Ascending_aorta ascending thoracic aorta pars ascendens aortae aorta ascendens pars ascendens aortae UBERON:0001496 ascending aorta The convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery. BTO:0000157 EFO:0002526 EHDAA2:0000132 EMAPA:17613 FMA:3768 GAID:471 MA:0000475 SCTID:181300001 VHOG:0001196 Wikipedia:Arch_of_aorta arcus aortae aortic arch thoracic aorta UBERON:0001508 arch of aorta The descending aorta is the portion of the aorta in a two-pass circulatory system from the arch of aorta to the point where it divides into the common iliac arteries[GO]. The descending aorta is part of the aorta, the largest artery in the body. The descending aorta is the part of the aorta beginning at the aortic arch that runs down through the chest and abdomen. The descending aorta is divided into two portions, the thoracic and abdominal, in correspondence with the two great cavities of the trunk in which it is situated. Within the abdomen, the descending aorta branches into the two common iliac arteries which serve the legs. [WP,unvetted]. EMAPA:18606 FMA:3784 MA:0002571 NCIT:C32455 SCTID:261399002 Wikipedia:Descending_aorta pars descendens aortae aorta descendens pars descendens aortae UBERON:0001514 descending aorta The part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. BTO:0000157 EFO:0002525 EMAPA:18603 FMA:3786 GAID:471 MA:0002569 MESH:D001013 NCIT:C33766 SCTID:302510009 Wikipedia:Thoracic_aorta galen:ThoracicAorta aorta thoracica thoracic part of aorta aorta thoracalis pars thoracica aortae UBERON:0001515 thoracic aorta Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. BTO:0002976 EFO:0002524 EMAPA:17856 FMA:3789 GAID:470 MA:0000474 MESH:D001012 NCIT:C32038 SCTID:244231007 Wikipedia:Abdominal_aorta galen:AbdominalAorta abdominal part of aorta descending abdominal aorta pars abdominalis aortae abdominal part of aorta aorta abdominalis pars abdominalis aortae UBERON:0001516 abdominal aorta One of the curved arteries at the corticomedullary border of the kidney that arise from the interlobar arteries and give rise to the interlobular arteries. arcuate artery EMAPA:28215 FMA:70497 MA:0002583 Wikipedia:Arcuate_arteries_of_the_kidney renal arcuate artery uberon UBERON:0001552 kidney arcuate artery https://upload.wikimedia.org/wikipedia/commons/8/87/2610_The_Kidney.jpg A tube extending from the mouth to the anus. The alimentary or digestive tract, and associated organs.[TAO] The bilaterian gut is typically a complete tube that opens to the exterior at both ends. It consists of mouth, foregut, midgut, hindgut, and anus (reference 1); Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut (reference 2).[well established][VHOG] FMA also has a term 'gastrointestinal tract', but this includes the liver. we place the MA and EMAPA class here, although the intent is probably a smaller region. See https://github.com/obophenotype/uberon/issues/509 we following Kardong in naming the entire tube from mouth to anus the alimentary canal. Kardong calls the portion of this tract that excludes buccal cavity and pharynx the 'alimentary canal', consider adding an extra class for this gut AAO:0010023 BILA:0000083 BTO:0000511 BTO:0000545 EHDAA2:0000726 EHDAA:518 EMAPA:16247 FBbt:00003125 FMA:45615 MA:0000917 MESH:D041981 NCIT:C34082 OpenCyc:Mx4rvVi0GpwpEbGdrcN5Y29ycA TAO:0000112 TGMA:0001819 UMLS:C0017189 VHOG:0000309 WBbt:0005743 ZFA:0000112 galen:AlimentaryTract digestive tube enteric tract alimentary canal alimentary tract uberon digestive canal gut tube UBERON:0001555 digestive tract Subdivision of urinary system which consists of the urinary bladder and the urethra. FMA:45659 MA:0002636 SCTID:181420004 galen:LowerUrinaryTract uberon UBERON:0001556 lower urinary tract The segment of the respiratory tract that starts proximally with the nose and ends distally with the cricoid cartilage, before continuing to the trachea. upper respiratory tract The segment of the respiratory tract that starts proximally with the trachea and includes all distal structures including the lungs[WP,modified] lower respiratory system lower respiratory tract organ neck neck of organ Skeletal muscle derived from cranial mesoderm and controls eye movements. extra-ocular skeletal muscle extraocular muscle extraocular musculature extraocular skeletal muscle extrinsic eye muscle extrinsic muscle of eyeball extrinsic ocular muscle musculi externi bulbi oculi extra-ocular muscle The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted]. musculus ciliarus Bowman`s muscles ciliaris musculus ciliaris ciliary muscle Organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work[GO]. Portion of tissue composed of contractile fibers.[TAO] It seems clear that the metazoan ancestor inherited from its unicellular descendants an actin cytoskeleton and motor-proteins of the myosin superfamily. Within metazoans, these two molecules were arranged into effective contractile units, the muscles. The basic trends for muscle evolution are already expressed in the diploblastic taxa.[well established][VHOG] muscular muscle AAO:0011066 EMAPA:32715 EMAPA:37474 EV:0100146 FMA:5022 GAID:131 MA:0000015 OpenCyc:Mx4rv2kf-5wpEbGdrcN5Y29ycA SCTID:71616004 TAO:0005145 VHOG:0001245 XAO:0000172 ZFA:0005145 galen:Muscle uberon UBERON:0001630 muscle organ temporal artery An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]. Note that in FMA an artery is a tree, whereas AEO/JB defines it as a tube; FMA includes a separate class for what it calls the trunk. Classification in this ontology may currently (Jan 2012) represent a mix of both schemes, although we are gradually revising in the direction of the AEO scheme. Part of the circulatory system composed of blood vessels which carry oxygenated blood away from the heart to the rest of the body.[AAO] The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] arterial Some arthropods have primitive arterial systems but this term refers to arteries in a true closed circulatory system. AAO:0010211 AEO:0000208 BTO:0000573 CALOHA:TS-0054 EFO:0000814 EHDAA2:0000143 EHDAA2:0003253 EMAPA:35147 EV:0100026 FMA:50720 GAID:468 MA:0000064 MAT:0000034 MESH:D001158 MIAA:0000034 NCIT:C12372 SCTID:362877004 TAO:0000005 UMLS:C0003842 VHOG:0001251 Wikipedia:Artery XAO:0000114 ZFA:0000005 galen:Artery arterial subtree arterial tree organ part arteries uberon arterial system arterial vessel UBERON:0001637 artery Any of the tubular branching vessels that carry blood from the capillaries toward the heart. TODO - check with MA - vein vs venous blood vessel Part of the circulatory system composed of blood vessels which carry blood from other organs, tissues, and cells to the heart.[AAO] The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] venous venous subtree venous vessel AAO:0010212 AEO:0000209 BTO:0000234 CALOHA:TS-1108 EFO:0000816 EHDAA2:0003254 EMAPA:35906 EV:0100031 FMA:50723 GAID:492 MA:0000067 MAT:0000037 MESH:D014680 MIAA:0000037 NCIT:C12814 SCTID:181367001 TAO:0000082 UMLS:C0042449 VHOG:0001743 Wikipedia:Vein XAO:0000115 ZFA:0000082 galen:Vein venous tree organ part uberon vascular element vena venae UBERON:0001638 vein http://upload.wikimedia.org/wikipedia/commons/c/c2/Venous_system_en.svg Cranial nerve which connects the midbrain to the extra-ocular and intra-ocular muscles. 3n nervus oculomotorius nervus oculomotorius [III] oculomotor III oculomotor III nerve oculomotor nerve [III] oculomotor nerve tree third cranial nerve CN-III cranial nerve III nerve III occulomotor oculomotor nerve or its root oculomotor nerve A horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]. nail/claw claw talon nail Subdivision of skeleton which includes upper and lower jaw skeletons. jaw jaw cartilage mandibular arch skeleton anterior splanchnocranium jaws mandibular arch oral jaw skeleton pharyngeal arch 1 skeleton visceral arch 1 jaw skeleton Subdivision of head that consists of the lower jaw skeletal elements plus associated soft tissue (skin, lips, muscle)[cjm]. mandibular part of mouth lower part of mouth mandibular series lower jaw region A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane blepharon eye lid palpebra blephara palpebrae eyelid palpebra superior superior eyelid upper eyelid inferior eyelid palpebra inferior lower eyelid the groups of nerve cell bodies associated with the twelve cranial nerves cranial ganglion cranial ganglion part of peripheral nervous system cranial ganglion/nerve cranial nerve ganglion cranial neural ganglion cranial neural tree organ ganglion ganglion of cranial nerve ganglion of cranial neural tree organ cranial ganglia head ganglion presumptive cranial ganglia cranial ganglion Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534). OM nucleus nervi oculomotorii nucleus of oculomotor nerve nucleus of oculomotor nuclear complex nucleus of third cranial nerve oculomotor III nuclear complex oculomotor III nucleus oculomotor nucleus third cranial nerve nucleus motor nucleus III nIII nucleus oculomotorius oculomotor motornucleus oculomotor nuclear complex Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes[WP]. BTO:0000753 CALOHA:TS-0584 FMA:55220 GAID:342 MA:0002436 MESH:D008221 NCIT:C13049 SCTID:181768009 UMLS:C0024296 Wikipedia:Lymphoid_tissue galen:LymphoidTissue lymphatic tissue lymphocytic tissue uberon UBERON:0001744 lymphoid tissue A network of orbital structures of the eye that secrete and drain tears from the surface of the eyeball into the nasal cavity; these parts include the lacrimal glands, lacrimal lake, lacrimal ducts, lacrimal canals, lacrimal sacs, nasolacrimal ducts, and lacrimal puncta. apparatus lacrimalis lacrymal system lacrimal drainage system nasolacrimal drainage system nasolacrimal system lacrimal apparatus Collagen-rich odontogenic tissue characteristic of teeth and tooth-like skeletal elements (e.g., odontodes); mature dentine is mineralized and develops from predentine tissue; often (but not always) tubular and acellular. dentin dentine of tooth predentin dentine A condensation of odontoblasts that forms the part of a tooth germ that gives rise to dentin and pulp in the mature tooth. It lies below a cellular aggregation known as the enamel organ. odontogenic condensation pharyngeal tooth mesenchyme dental papilla dentinal papilla dermal papilla papilla dentis tooth mesenchyme odontogenic papilla the pigmented middle of the three concentric layers that make up an eye, consisting of the iris, ciliary body and choroid[WP,edited]. tunica vasculosa of eyeball uvea uveal tract pars iridica retinae tunica vasculatis oculi tunica vasculosa bulbi vascular layer of eyeball uvea the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye anterior uvea irides irises iris the smooth stratified squamous epithelium that covers the outer surface of the cornea anterior corneal epithelium cornea epithelial tissue cornea epithelium epithelial tissue of cornea epithelium anterius (cornea) epithelium anterius corneae epithelium corneæ anterior layer epithelium of cornea external epithelium of cornea anterior endothelium of cornea e. anterius corneae endothelium anterius corneae endothelium camerae anterioris bulbi endothelium corneale epithelium posterius corneae corneal epithelium Opaque fibrous outer layer of the eyeball[ZFA,Kardong,WP]. scleral capsule sclera the thickened portion of the vascular tunic, which lies between the choroid and the iris, composed of ciliary muscle and ciliary processes ocular ciliary body anterior uvea ciliary bodies corpus ciliare ciliary body vascular layer containing connective tissue, of the eye lying between the retina and the sclera. The choroid provides oxygen and nourishment to the outer layers of the retina. Along with the ciliary body and iris, the choroid forms the uveal tract[WP]. choroid choroid coat choroidea eye choroid posterior uvea chorioid choroidea optic choroid optic choroid the any of the paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment[MP,modified] backbone nerve nerve of backbone nerve of spinal column nerve of spine nerve of vertebral column spinal column nerve spinal nerve tree spine nerve vertebral column nerve nervi spinales spinal nerves spinal nerve Any of the layers that make up the retina[MP]. retina layer retina neuronal layer retinal layer retinal neuronal layer layer of retina Cranial nerves are nerves that emerge directly from the brain, in contrast to spinal nerves, which emerge from segments of the spinal cord. cranial neural tree organ cranial nerves nervus cranialis cranial nerve A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina portion of vitreous humor humor vitreous humor vitreus vitreous whole portion of vitreous humor humoral fluid ocular fluid vitreous fluid vitreous humour vitreous humor Gelatinous mucoid tissue that is composed of vitreous humor and fills the cavity behind the crystalline lens of the eye and in front of the retina[MP,modified] vitreous body The chamber in the eyeball enclosing the vitreous humor, bounded anteriorly by the lens and ciliary body and posteriorly by the posterior wall of the eyeball[BTO,modified]. camera postrema camera postrema bulbi oculi camera vitrea camera vitrea bulbi postremal chamber postremal chamber of eyeball vitreous chamber vitreous chamber of eyeball any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) anterior eye segment anterior segment eye anterior segment of eye anterior segment of the eye eye anterior segment segmentum anterius (bulbus oculi) segmentum anterius bulbi oculi anterior segment of eyeball any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) eye posterior segment posterior eye segment posterior segment eye posterior segment of eye posterior segment of the eye segmentum posterius (bulbus oculi) segmentum posterius bulbi oculi posterior segment of eyeball A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]. glandula sebacea glandula sebaceae sebaceous follicle sebaceous gland Outermost layer of an organ[WP]. cortical this class is used more generically than in FMA, and includes e.g. cortex of hair EFO:0000383 EHDAA:9344 FMA:61109 Wikipedia:Cortex_(anatomy) galen:Cortex cortex cortex of organ uberon UBERON:0001851 cortex Fatty lubricant matter secreted by sebaceous glands, and made of made of triglyceride oils, wax, squalene, and metabolytes of fat-producing cells[BTO,WP]. sebum The most anterior region the brain including both the telencephalon and diencephalon. FB prosencephalon forebrain The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. MB mesencephalon midbrain The division of the forebrain that develops from the foremost primary cerebral vesicle. DiE between brain interbrain mature diencephalon thalamencephalon betweenbrain diencephalon diencephalon Rostral segment of the hindbrain that has as its parts the pons (where present) and the cerebellum[WP,modified]. epencephalon epencephalon-2 metencephalon Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. bulb medulla bulbus medulla oblonzata metepencephalon medulla oblongata Diencephalic white matter (tract) which is comprised of retinal ganglion cell axons after which they have passed through the optic chiasm[ZFA]. Predominantly white matter structure found in diencephalon consisting of fibers originating in the retina. The optic tract is considered to extend from the point of the optic chiasm and terminates largely, although not exclusively, in the lateral geniculate complex. Other fibers end in the superior colliculus and other structures in the diencephalon, midbrain and brainstem (MM)[NIF]. optic lemniscus optic tracts tractus optici tractus opticus visual pathway optic tract An endothelium that is part of a capillary [Automatically generated definition]. BTO:0004954 CALOHA:TS-0112 EMAPA:36292 FMA:62114 MA:0000711 NCIT:C49215 UMLS:C0006904 blood capillary endothelium capillary endothelium capillary vessel endothelium endothelium of blood capillary endothelium of capillary vessel uberon UBERON:0001915 endothelium of capillary An endothelium that is part of an artery [Automatically generated definition]. The endothelium is the thin layer of cells that lines the interior surface of blood vessels, forming an interface between circulating blood in the lumen and the rest of the vessel wall.[AAO] Vertebrates and a very few invertebrates such as squids have evolved a secondary epithelium, the endothelium, that lines their blood vessels.[well established][VHOG] AAO:0011013 BTO:0004757 EMAPA:35148 FMA:62116 MA:0000707 NCIT:C49194 UMLS:C1179025 VHOG:0001215 XAO:0000357 arterial endothelium artery endothelium uberon UBERON:0001917 endothelium of artery Ventral part of the midbrain, separated from the hindbrain by the isthmus[ISBN:0471888893]. Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle[FMA] The part of the midbrain extending from the substantia nigra to the cerebral aqueduct in a horizontal section of the midbrain. It forms the floor of the midbrain that surrounds the cerebral aqueduct[WP]. MTg tegmentum tegmentum mesencephali tegmentum of midbrain mesencephalic tegmentum tegmentum mesencephalicum midbrain tegmentum The liquid component of blood, in which erythrocytes are suspended. plasma portion of plasma BTO:0000131 CALOHA:TS-0800 EFO:0001905 EMAPA:35690 FMA:62970 GAID:1178 MA:0002501 MAT:0000052 MESH:D010949 MIAA:0000052 NCIT:C13356 OpenCyc:Mx4rEg4ZYrIbEduAAAAOpmP6tw UMLS:C0032105 Wikipedia:Blood_plasma blood plasm portion of blood plasma uberon UBERON:0001969 blood plasma vital aqueous secretion of the liver that is formed by hepatocytes and modified down stream by absorptive and secretory properties of the bile duct epithelium. fel gall bile One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins One of the minute vessels that collect deoxygenated blood from the capillary plexuses returns it to the veins. Multi-tissue structure part of the blood vasculature formed by the anastomosis of capillaries. Venules carry blood toward the heart.[TAO] BTO:0002626 EMAPA:35917 FMA:63130 MA:0000071 MESH:D014699 NCIT:C12818 SCTID:341687009 TAO:0005315 UMLS:C0042520 VHOG:0001765 Wikipedia:Venule ZFA:0005315 uberon venula UBERON:0001979 venule https://upload.wikimedia.org/wikipedia/commons/d/da/Illu_capillary.jpg The smallest division of the artery located between the muscular arteries and the capillaries[GO]. Multi-tissue structure part of the blood vasculature, feeds into capillaries. Arterioles carry blood away from the heart.[TAO] Small, terminal branch of an artery which generally connects to capillaries.[AAO] AAO:0010253 BTO:0001997 EMAPA:35146 FMA:63182 MA:0000063 MESH:D001160 NCIT:C12672 SCTID:337724002 TAO:0002138 UMLS:C0003847 VHOG:0001763 Wikipedia:Arteriole ZFA:0005255 uberon arteriola UBERON:0001980 arteriole https://upload.wikimedia.org/wikipedia/commons/d/da/Illu_capillary.jpg A vessel through which blood circulates in the body. consider adopting the EMAPA superclass 'vascular element', which includes microvasculature (e.g. capillaries), vascular plexus Any of the vessels through which blood circulates in the body. [XAO:0001011_][VHOG] Any of the vessels through which blood circulates in the body.[AAO] The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] annelids have blood vessels, but this class is not applicable to annelids. FMA:63183 Blood vessel is categorized as 'general anatomical term'. Suggestion to map to region of vascular tree from Terry H at JAX vascular element AAO:0011004 AEO:0000207 BTO:0001102 CALOHA:TS-0080 EFO:0000817 EHDAA2:0003252 EHDAA:240 EMAPA:32743 EMAPA:35993 FMA:50722 FMA:63183 GAID:169 MA:0000060 MAT:0000393 MESH:D001808 NCIT:C12679 NLXANAT:090901 OpenCyc:Mx4rvVjxlpwpEbGdrcN5Y29ycA SCTID:361097006 TAO:0002137 UMLS:C0005847 VHOG:0001250 Wikipedia:Blood_vessel XAO:0001011 ZFA:0005314 region of vascular tree organ vascular tree organ region uberon vas sanguineum UBERON:0001981 blood vessel http://upload.wikimedia.org/wikipedia/commons/2/29/Circulatory_System_en.svg Any of the smallest blood vessels connecting arterioles with venules. not all sources agree capillary is a blood vessel - consider adopting EMAPA superclass of vascular element Any of the tiny blood vessels connecting the arterioles to the venules.[AAO] The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] capillaries lack tunica media and tunica adventitia; only the endothelial wall of the tunica intima belongs AAO:0010252 BTO:0002045 CALOHA:TS-2006 EFO:0001906 EMAPA:35198 EV:0100035 FMA:63194 MA:0000065 MESH:D002196 NCIT:C12685 NLXANAT:090902 TAO:0005250 UMLS:C0935624 VHOG:0001253 Wikipedia:Capillary XAO:0000116 ZFA:0005250 blood capillary capillary vessel uberon UBERON:0001982 capillary https://github.com/obophenotype/uberon/issues/2186 http://upload.wikimedia.org/wikipedia/commons/2/2f/A_red_blood_cell_in_a_capillary,_pancreatic_tissue_-_TEM.jpg A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA] A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA]. endothelial BTO:0000393 CALOHA:TS-0278 EFO:0002548 FMA:63916 GAID:520 MESH:D004727 NCIT:C12481 SCTID:27168002 UMLS:C0014257 galen:Endothelium uberon UBERON:0001986 The term 'endothelium' has been either restricted to the continuous cell layer of the vertebrates, as we are assuming here, or applied to all the cells able to adhere to the luminal surface of the vascular basement membrane (Casley-Smith 1980) endothelium organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. allantoic placenta eutherian placenta placenta Cartilage tissue primarily composed of type II collagen (thin fibrils) and a glassy appearance. hyaline cartilage chondroid cartilage hyaline cartilage tissue An artery that carries deoxygenated blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood.. pulmonary arterial tree pulmonary arterial tree organ part arteria pulmonalis pulmonary arterial subtree truncus pulmonalis pulmonary artery Pulmonary veins are blood vessels that transport blood from the lungs to the heart[GO]. pulmonary venous tree organ part venae pulmonales pulmonary vein A vein that conducts blood from the digestive organs, spleen, pancreas, and gallbladder to the liver[BTO]. portal venous tree organ part portal vein A nervous system structure composed primarily of nerve cell bodies (somas). May also include dendrites and the initial unmyelinated portion of axons. gray matter gray matter of neuraxis grey matter grey matter of neuraxis grey substance neuronal grey matter substantia grisea gray mater grisea gray matter The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. rhombencephalon hindbrain A tiny smooth muscle that connects the hair follicle with the dermis. arrector pili arrector pili muscle arrector pili smooth muscle arrector pilli arrector pilli muscle arrector pilorum arrector pilorum muscle of hair arectores pilorum erector pili erectores pilorum pilomotor muscle arrector muscle of hair Muscle tissue that contains fibers that are divided by transverse bands into striations. striated muscle striated muscle tissue Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]. infratentorial region epencephalon-1 corpus cerebelli parencephalon cerebellum A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]. thyroid glandula thyroidea thyroid gland Respiration organ that develops as an outpocketing of the esophagus. pulmo lung An interconnected tubular multi-tissue structure contains fluid that is actively transported around the organism[ZFA]. Examples: vasculature of lung, vasculature of face. see also: vascular system. Consider merging? vascular BTO:0003718 FMA:69050 TAO:0005249 ZFA:0005249 vascular network uberon UBERON:0002049 vasculature http://upload.wikimedia.org/wikipedia/commons/2/29/Circulatory_System_en.svg Anatomical structure that is part of an embryo. Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[AAO] Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[TAO] Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[VSAO] in FMA embryo is_a embryonic structure AAO:0000138 BILA:0000034 BTO:0000174 CALOHA:TS-2110 EFO:0000461 FBbt:00004208 FMA:69067 GAID:407 MESH:D004628 NCIT:C13229 RETIRED_EHDAA2:0003169 SCTID:667009 TAO:0001105 UMLS:C0013948 VSAO:0000178 XAO:0003042 ZFA:0001105 developing embryonic structure embryonic anatomical structure uberon developing structure embryonale Struktur embryonic structures UBERON:0002050 embryonic structure The truncus arteriosus and bulbus cordis are divided by the aorticopulmonary septum. The truncus arteriosus gives rise to the ascending aorta and the pulmonary trunk. The bulbus cordis gives rise to the smooth parts (outflow tract) of the left and right ventricles. EHDAA2:0004143 EMAPA:35887 FMA:70301 GAID:554 MA:0000103 MESH:D014338 NCIT:C34317 SCTID:308828009 Wikipedia:Truncus_arteriosus_(embryology) UBERON:0002061 truncus arteriosus The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves[GO]. Swellings of tissue present between the endocardial and myocardial cell layers that will give rise to the interstitial cells of the cardiac valves[ZFA]. AV cushion atrioventricular cushion cardiac cushion endocardial cushion tissue atrioventricular canal cushion endocardial cushions endocardial cushion The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]. Consider adding a layer-of-skin grouping class for all skin layers A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales. Le Guellec et al, 2004.[TAO] When approaching controversies surrounding skin evolution, we need to remember that the skin consists of two layers, an epidermis and a dermis, not a single evolving structure. (...) It is little wonder that controversies about homology exist. If we think of the epidermis, the dermis, and their interactions as an evolving unit, then their specialized products (hair, feathers, and reptilian scales) are broadly homologous.[well established][VHOG] dermal AAO:0000128 BTO:0000294 CALOHA:TS-2076 EFO:0000953 EMAPA:17527 EV:0100154 FMA:70323 GAID:1321 MA:0000152 MAT:0000153 MESH:D020405 MIAA:0000153 TAO:0001119 UMLS:C0011646 VHOG:0000108 XAO:0000217 ZFA:0001119 vertebrate dermis uberon corium cutis UBERON:0002067 dermis Lowermost layer of the integumentary system in vertebrates. Types of cells that are found in the hypodermis are fibroblasts, adipose cells, and macrophages. It is derived from the mesoderm, but unlike the dermis, it is not derived from the dermatome region of the mesoderm. The hypodermis is used mainly for fat storage[WP]. A layer separating the inner face of the dermis from the subjacent muscle cells. It is covered on both sides by a basement membrane. It contains pigment cells. Le Guellec et al, 2004.[TAO] A layer separating the inner face of the dermis from the subjacent muscle cells. It is covered on both sides by a basement membrane. It contains pigment cells[FMA:70544]. hypodermal subcutaneous subcutaneus BTO has 'subcutis', as part of dermis. We follow FMA in having distinct classes for hypodermis and superficial fascia, and including these as part of the non-skin intgeument. BTO:0001314 CALOHA:TS-2366 FMA:70544 TAO:0001136 UMLS:C0278403 ZFA:0001136 hypoderm vertebrate hypodermis uberon sub-tegumental tissue subcutaneous tissue subcutis subtegumental tissue superficial fascia tela subcutanea UBERON:0002072 hypodermis A tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. folliculus pili hair follicle An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen. An internal organ of the body; especially: one (as the heart, liver, or intestine) located in the great cavity of the trunk proper.[AAO] general anatomical term in FMA. Note that we place the MA class here temporarily, although properly systems should be distinguished from organs. AAO:0010386 BTO:0001491 EHDAA:512 EMAPA:16245 FMA:7085 MA:0000019 MESH:D014781 NCIT:C28287 RETIRED_EHDAA2:0002201 SCTID:118760003 UMLS:C0042779 Wikipedia:Viscus XAO:0003034 visceral organ visceral organ system uberon Organsystem@de splanchnic tissue viscera visceral tissue UBERON:0002075 viscus A cardiac atrium that is in the right side of the heart. It receives deoxygenated blood. In mammals, this comes from the superior and inferior vena cava and the coronary sinus, and pumps it into the right ventricle through the tricuspid valve. Right cardiac chamber which is continuous with the superior vena cava and inferior vena cava.[FMA] The tetrapod clade develops a complete atrial septum and loses the fifth aortic arch altogether.[well established][VHOG] https://github.com/obophenotype/uberon/wiki/Modeling-paired-structures-Design-Pattern AAO:0010248 BTO:0001703 EHDAA2:0000290 EMAPA:17321 FMA:7096 MA:0000075 NCIT:C12868 SCTID:244383003 UMLS:C0225844 VHOG:0000328 Wikipedia:Right_atrium XAO:0003192 galen:RightAtrium cardiac right atrium heart right atrium right atrium right atrium of heart right cardiac atrium uberon atrium dextrum UBERON:0002078 right cardiac atrium http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Heart.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Heart.glb Cardiac chamber in which blood enters the heart. One of four heart chambers.[TAO] One of two chambers of the heart which receive blood from the veins and forces it by muscular contration to the ventricle.[AAO] In the primitive vertebrate heart the four chambers are: 1. Sinus venosus (...) 2. Atrium (...) 3. Ventricle (...) 4. Conus arteriosus (...).[well established][VHOG] AAO:0010246 BTO:0000903 CALOHA:TS-0437 EFO:0000277 EHDAA2:0000154 EHDAA:1265 EMAPA:16688 EV:0100019 FMA:7099 GAID:555 MA:0000073 MAT:0000496 MESH:D006325 NCIT:C12728 SCTID:261405004 TAO:0000471 UMLS:C0018792 VHOG:0000175 Wikipedia:Heart_atrium ZFA:0000471 galen:Atrium atria atrium atrium of heart cardiac atria heart atrium uberon atrial tissue UBERON:0002081 cardiac atrium Cardiac chamber through which blood leaves the heart. ventricle AAO:0010249 BTO:0000862 CALOHA:TS-0444 EFO:0000317 EHDAA2:0004164 EHDAA:1912 EMAPA:17331 EV:0100020 FMA:7100 GAID:568 MA:0000091 MAT:0000497 MESH:D006352 NCIT:C12730 SCTID:277699000 TAO:0000009 VHOG:0000435 Wikipedia:Ventricle_(heart) XAO:0003193 ZFA:0000009 galen:Ventricle heart ventricle lower chamber of heart ventricle of heart UBERON:0002082 cardiac ventricle A cardiac ventricle that is in the left side of the heart. BTO:0001629 CALOHA:TS-0439 EHDAA2:0002178 EMAPA:17337 FMA:7101 MA:0000092 NCIT:C12871 SCTID:244385005 VHOG:0000718 Wikipedia:Left_ventricle galen:LeftVentricle cardiac left ventricle left cardiac ventricle left ventricle left ventricle of heart ventriculus sinister cordis UBERON:0002084 heart left ventricle The post-cranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. The postcranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. Skeletal subdivision of the central body axis including vertebrae, notochord, ribs, and sternum.[VSAO] The axial skeleton is formed by the vertebral column, a metameric, semi-flexible, arched bar located in the dorsal part of the trunk, and is formed by a series of cartilaginous or bony vertebrae. It provides suspension for the appendicular skeleton and protection for the spinal nerve cord.[AAO] The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.[TAO] The axial musculoskeletal system represents the plesiomorphic locomotor engine of the vertebrate body, playing a central role in locomotion. In craniates, the evolution of the postcranial skeleton is characterized by two major transformations. First, the axial skeleton became increasingly functionally and morphologically regionalized. Second, the axial-based locomotion plesiomorphic for craniates became progressively appendage-based with the evolution of extremities in tetrapods.[well established][VHOG] axial skeleton AAO:0000034 EFO:0000942 EHDAA2:0000161 EHDAA:5049 EMAPA:17214 EMAPA:37721 FMA:71221 MA:0002986 MAT:0000148 MESH:D013131 MIAA:0000148 TAO:0000317 VHOG:0000317 VSAO:0000093 XAO:0003073 ZFA:0000317 post-cranial axial skeleton uberon UBERON:0002090 previous some AOs had used the term 'axial skeleton' to include the skull. This is being resolved (see tracker items above). Status: MA - fixed. postcranial axial skeleton http://purl.obolibrary.org/obo/uberon/docs/The-axial-skeleton Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. Skeletal subdivision consisting of all the skeletal elements in the pectoral and pelvic appendage complexes.[VSAO] Skeletal system that consists of the paired fins (pectoral or pelvic fins).[TAO] The pectoral and pelvic girdles, which articulate with the axial skeleton, together with their associated limbs, the forelimbs and hind limbs, form the appendicular skeleton.[AAO] ontologies differ in whether they treat the term appendicular skeleton as being the entire set of bones in the limbs, or whether the fore and hind limbs/fins are treated as seperate appendicular skeletons. Here we follow FMA, and treat the appendicular skeleton as the sum total of skeletal elements in the organism (this is evidenced by the fact that in FMA, skeleton of left/right upper/lower limb is part_of a appendicular skeleton, and subtypes of 'subdivision of appendicular skeleton'). We have separate classes such as 'skeleton of limb', and 'skeleton of hindlimb' for the 4 parts of the appendicular skeleton. In future the ZFA/TAO classes may be moved. AAO:0000747 EFO:0000951 EMAPA:32729 FMA:71222 MA:0000290 MAT:0000278 MIAA:0000278 NCIT:C49477 SCTID:322050006 UMLS:C0222646 VHOG:0001666 VSAO:0000076 Wikipedia:Appendicular_skeleton XAO:0003166 appendicular skeleton entire appendicular skeleton paired fin skeleton uberon skeleton appendiculare UBERON:0002091 appendicular skeleton https://github.com/obophenotype/uberon/wiki/Appendages-and-the-appendicular-skeleton http://upload.wikimedia.org/wikipedia/commons/7/7c/Appendicular_skeleton_diagram.svg The organ covering the body that consists of the dermis and epidermis. consider 'integumentary system' for invertebrates MA uses the term skin to refer to what is called here: zone of skin BTO:0001253 CALOHA:TS-0934 EFO:0000962 EHDAA2:0001844 EMAPA:17525 FMA:7163 MESH:D012867 MFMO:0000099 OpenCyc:Mx4rvVjX3ZwpEbGdrcN5Y29ycA UMLS:C1123023 XAO:0000023 galen:Skin entire skin skin organ uberon entire integument integument integumental organ pelt skin UBERON:0002097 skin of body Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. Organism subdivision that is the part of the body posterior to the head and anterior to the tail.[AAO] Organism subdivision which is the part of the body posterior to the head and anterior to the tail.[TAO] AAO:0010339 BILA:0000116 BTO:0001493 CALOHA:TS-1071 EFO:0000966 EMAPA:31857 FMA:7181 MA:0000004 MAT:0000296 MIAA:0000296 NCIT:C33816 OpenCyc:Mx4rvVkJjpwpEbGdrcN5Y29ycA SCTID:262225004 TAO:0001115 UMLS:C0460005 Wikipedia:Torso XAO:0000054 XAO:0003025 ZFA:0001115 galen:Trunk thoracolumbar region torso trunk region uberon Rumpf UBERON:0002100 trunk A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts. free limb limb sensu Vertebrata pentadactyl limb tetrapod limb flipper extremities extremity limb The sensory system subserving the sense of vision. photosensory system visual organ system visual system Sensory system responsible for the perception of spatial orientation and auditory stimuli. auditory organ system vestibuloauditory system auditory system auditory/vestibular system vestibuloauditory system vestibulo-auditory system An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]. iecur jecur liver Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]. small bowel small intestine anterior intestine intestinum tenue mid intestine small intestine An organ that aids digestion and stores bile produced by the liver[WP]. gall bladder gallbladder vesica biliaris vesica fellea gall bladder A paired organ of the urinary tract that produces urine and maintains bodily fluid homeostasis, blood pressure, pH levels, red blood cell production and skeleton mineralization. A paired organ of the urinary tract which has the production of urine as its primary function. One of either of a pair of structures lying on either side of the dorsal aorta in which fluid balance is regulated and waste is excreted out in the form of urine.[AAO] renal AAO:0000250 BTO:0000671 CALOHA:TS-0510 EFO:0000929 EMAPA:17373 EV:0100096 FMA:7203 GAID:423 MA:0000368 MAT:0000119 MESH:D007668 MIAA:0000119 NCIT:C12415 SCTID:181414000 UMLS:C0022646 Wikipedia:Kidney XAO:0003267 galen:Kidney reniculate kidney uberon UBERON:0002113 kidney The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one). proximal intestine upper intestine duodenum In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. A kidney formed of nephric tubules arising in the anterior region of the nephric ridge; forms only as a transient embryonic structure. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.748][VHOG] Organ that serves as a transient kidney, providing osmoregulation during early developmental stages and then degenerating during metamorphosis.[AAO] The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.Kimmel et al, 1995.[TAO] In all vertebrate embryos, the kidney begins with the differentiation of a few renal tubules from the anterior end of the nephric ridge overlying the pericardial cavity. (...) This early-developing embryonic kidney is called the pronephros.[well established][VHOG] pronephric UBERON:0005794 AAO:0011089 BTO:0001541 EFO:0000927 EHDAA2:0001570 EHDAA:1017 EMAPA:16579 FMA:72170 MAT:0000117 MESH:D060910 MIAA:0000117 NCIT:C34280 SCTID:308804007 TAO:0000151 UMLS:C0231048 VHOG:0000037 Wikipedia:Pronephros XAO:0002000 ZFA:0000151 pronephric kidney uberon archinephron embryonic kidney pronephron UBERON:0002120 Once the more complex mesonephros forms the pronephros undergoes apoptosis in amphibians. In fishes the nephron degenerates but the organ remains and becomes a component of the immune system[Wikipedia:Pronephros]. // TODO - check developmental relationships. Note that we previously include the ZFA/XAO terms under the more specific 'pronephric kidney', but these are now merged. TODO GCI: relationship: capable_of GO:0030104 pronephros Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA] valva aortae aortic valve The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. endocardial lining endocardial tissue heart endocardium heart endocardial tissue endocardium Lung which consists of the right upper lobe, middle lobe and right lower lobe.[FMA] right lung Lung which consists of the left upper lobe and left lower lobe.[FMA] left lung Anatomical cluster consisting of the hematopoietic system and the lymphoid system, or its analogs. CALOHA:TS-2018 EHDAA2:0004615 EMAPA:18765 FMA:74562 MA:0000013 hematolymphoid system lymphomyeloid complex uberon haemolymphoid system UBERON:0002193 hemolymphoid system The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin[ZFA]. AHP anterior hypophysis anterior lobe (hypophysis) anterior lobe of hypophysis anterior lobe of pituitary anterior lobe of pituitary gland anterior pituitary lobus anterior (glandula pituitaria) lobus anterior hypophysis pituitary gland, anterior lobe anterior lobe of the pituitary anterior pituitary gland cranial lobe lobus anterior pituitary anterior lobe pituitary glandanterior lobe rostral lobe adenohypophysis The posterior part of the pituitary gland that secretes hormones involved in blood pressure regulation such as oxytocin and antidiuretic hormon. NHP infundibular process lobus nervosus neurohypophysis lobus posterior (glandula pituitaria) lobus posterior hypophysis neural lobe neural lobe of pituitary neural lobe of pituitary gland neuro hypophysis neurohypophysis pituitary gland, posterior lobe posterior lobe of pituitary posterior lobe of pituitary gland posterior pituitary lobus nervosus lobus posterior pituitary gland neural lobe pituitary gland, neural lobe posterior lobe of hypophysis posterior pituitary gland neurohypophysis The dermis, epidermis and hypodermis. in FMA intergument = skin+superficial fascia(hypodermis), skin=dermis+epidermis+hair_nail. Note that the definition provided here excludes the more general sense of the term 'integument' used in invertebrates; consider 'integumental system'. Note that the VSAO class appears to include adnexa by its definition. Anatomical system that protects the body from damage, comprising the skin and its appendages.[AAO] Surface structure that is the outer protective covering of the body.[VSAO] The outer protective barrier that separates the animal from its aquatic environment. Le Guellec et al, 2004.[TAO] integumental integumentary AAO:0000239 BTO:0000634 FMA:74657 TAO:0000368 VSAO:0000029 ZFA:0000368 galen:Integument dermis plus epidermis plus hypodermis integumentum commune skin and subcutaneous tissue skin plus hypodermis the integument uberon Hautsystem@de dermal system dermoid system skin tegument vertebrate integument UBERON:0002199 integument Vasculature that is part of a head [Automatically generated definition]. adult head vascular network adult head vasculature cranial vasculature head vascular network vascular network of adult head vascular network of head vasculature of adult head head vasculature vasculature of head A vasculature that is part of a trunk [Automatically generated definition]. FMA:74712 TAO:0005024 ZFA:0005024 torso vascular network torso vasculature trunk vascular network trunk vasculature vascular network of torso vascular network of trunk vasculature of torso uberon UBERON:0002201 vasculature of trunk Vasculature that is part of the eye region. eye vascular network ocular blood vessel ocular vasculature vascular network of eye eye vasculature optic vasculature vasculature of eye Anatomical system that consists of the muscular and skeletal systems. Anatomical system that provides locomotion and physical support to the organism.[AAO] There are more than 50,000 extant vertebrate species, representing over 500 million years of evolution. During that time, the vertebrate musculoskeletal systems have adapted to aquatic, terrestrial, fossorial, and arboreal lifestyles, while simultaneously retaining functionally integrated axial and appendicular skeletal systems.[well established][VHOG] musculoskeletal AAO:0010546 CALOHA:TS-1311 EMAPA:32714 EV:0100139 FMA:7482 GAID:98 MA:0002418 MESH:D009141 NCIT:C12754 OpenCyc:Mx4rQRpVNgAKEdyHxgDggVfs8g SCTID:278858007 UMLS:C0026860 VHOG:0001275 VSAO:0000031 Wikipedia:Musculoskeletal_system XAO:0000168 musculo-skeletal system uberon UBERON:0002204 musculoskeletal system Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA] Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA]. Is a joint that is located at the point of contact of articulating bones allowing movement. The joint has a capsule containing synovial fluid surrounding the articulating bone surfaces.[TAO] AEO:0000183 CALOHA:TS-2138 EHDAA2:0003183 FMA:7501 MA:0000322 NCIT:C32461 OpenCyc:Mx4rv2bBV5wpEbGdrcN5Y29ycA SCTID:113234001 TAO:0005153 Wikipedia:Synovial_joint ZFA:0005153 galen:SynovialJoint articulatio synoviale diarthroses diarthrosis diarthrosis joint uberon diarthrodial joints UBERON:0002217 synovial joint The part of the coelemic cavity lumen that is enclosed by the walls of the thorax. In many species, the diaphragm separates thoracic and abdominal cavities EMAPA:36497 FMA:7565 GAID:93 MA:0000032 MESH:A01.911.800 MESH:D035423 NCIT:C12905 OpenCyc:Mx4rmvyleLfEEduAAAACs6hRXg OpenCyc:Mx4rvhU_TpwpEbGdrcN5Y29ycA SCTID:243949006 UMLS:C0230139 Wikipedia:Thoracic_cavity cavitas thoracis cavity of chest cavity of thorax chest cavity pectoral cavity space of thoracic compartment thoracic lumen uberon UBERON:0002224 thoracic cavity http://upload.wikimedia.org/wikipedia/commons/c/ce/Gray846.png http://upload.wikimedia.org/wikipedia/commons/e/ee/Scheme_body_cavities-en.svg Part of the central nervous system located in the vertebral canal continuous with and caudal to the brain; demarcated from brain by plane of foramen magnum. It is composed of an inner core of gray matter in which nerve cells predominate, and an outer layer of white matter in which myelinated nerve fibers predominate, and surrounds the central canal. (CUMBO) SpC cerebro-cerebellar fissure cerebrocerebellar fissure fissura cerebro-cerebellaris fissura cerebrocerebellaris medulla spinalis spinal cord structure spinal medulla spinal cord An organ that houses olfactory neurons and is responsible for the sense of smell. Examples include the vertebrate nose and the Drosophila dorsal organ. olfactory organ olfactory sense organ olfactory sensory organ main olfactory organ primary olfactory organ olfactory neuroepithelium organ olfactus organum olfactorium olfactory organ Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree). biliary apparatus biliary tract biliary system Stalk-like part of the brain that includes amongst its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,MP,generalized]. brain stem truncus encephali accessory medullary lamina of pallidum lamella pallidi incompleta lamina medullaris accessoria lamina medullaris incompleta pallidi lamina pallidi incompleta truncus encephalicus brainstem An anatomical structure which consists of juxtaglomerular cells, extraglomerular mesangial cells and the macula densa. The juxtaglomerular apparatus lies adjacent to the glomerulus and regulates kidney function by maintaining the blood flow to the kidney and the filtration rate[GO]. a microscopic structure in the kidney, which regulates the function of each nephron. The juxtaglomerular apparatus is named for its proximity to the glomerulus: it is found between the vascular pole of the renal corpuscle and the returning distal convoluted tubule of the same nephron. This location is critical to its function in regulating renal blood flow and glomerular filtration rate. The three cellular components of the apparatus are the macula densa, extraglomerular mesangial cells, and juxtaglomerular cells (also known as granular cells)[WP]. BTO:0005157 EMAPA:30449 FMA:83599 GAID:432 MA:0002546 MESH:D007606 NCIT:C32891 SCTID:362219002 UMLS:C0022445 Wikipedia:Juxtaglomerular_apparatus complexus juxtaglomerularis juxtaglomerular complex uberon UBERON:0002303 juxtaglomerular apparatus Neural tissue consisting of myelinated axons connecting grey matter areas of the central nervous system. CNS tract/commissure neuronal white matter white matter of neuraxis white substance CNS tracts and commissures CNS white matter substantia alba white mater white matter The inner layer of the glomerulus, within the basement membrane surrounding the glomerular capillaries. mesangial WP considers this the same as glomerular mesangium. In MA, glomerular and extraglomerular are distingsuished. FMA class has no definition and is a type of stroma, which is inconsistent with our classification of this here. BTO:0002494 EMAPA:28248 EMAPA:36561 FMA:84139 MA:0002617 NCIT:C33101 UMLS:C0017655 Wikipedia:Mesangium uberon UBERON:0002319 mesangium A thin membrane which helps to support the capillary loops in a renal glomerulus. It is connective tissue composed of mesangial cells - myofibroblasts phenotypically related to vascular smooth muscle cells (muscle, smooth, vascular), phagocytes and the mesangial extracellular matrix. EMAPA:27961 EMAPA:28248 FMA:84140 GAID:430 MA:0002606 MESH:D005920 SCTID:244574009 Wikipedia:Glomerular_mesangium uberon UBERON:0002320 glomerular mesangium The tissue comprised of mesangial cells that fill the triangular space between the macula densa and the afferent and efferent arterioles of the juxtaglomerular apparatus. EMAPA:28278 FMA:84141 MA:0002602 uberon UBERON:0002321 EDITOR_NOTE check MA part_ofs - should be spatially disjoint from renal glomerulus? extraglomerular mesangium The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities. check the FMA placement here; ncit placement of body cavity here probably not correct Anatomical space, part of the trunk that contains the pericardial and pleuroperitoneal cavities[ZFA]. The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities[BTO]. In mammals it forms the peritoneal, pleural, and pericardial cavities UBERON:0000169 body cavity AEO:0000186 BTO:0001707 EHDAA2:0000267 FBbt:00005060 FMA:85006 NCIT:C25444 RETIRED_EHDAA2:0003186 SCTID:361348008 TAO:0001438 UMLS:C0333343 ZFA:0001438 galen:BodyCavity coelomic cavity coelomic cavity lumen main body cavity space of body compartment ventral body cavity uberon celom coelom coelome hemocoel UBERON:0002323 EDITOR_NOTE check the FMA placement here; ncit placement of body cavity here probably not correct coelemic cavity lumen A flexible rod-shaped body found in embryos of all chordates. It is composed of cells derived from the mesoderm and defines the primitive axis of the embryo. In some chordates, it persists throughout life as the main axial support of the body, while in most vertebrates it becomes the nucleus pulposus of the intervertebral disc. The notochord is found ventral to the neural tube. Avascular multi-tissue structure composed of large vacuolated epithelial cells (chordablasts) and perichordal fibrous tissue.[VSAO] Rod-like principal supportive element of the embryo and larva, present in the midline just ventral to the neural tube, and differentiating during the segmentation period to form large vacuolated epithelial cells and a surrounding a sheath of fibrous and elastic layers. Layering of the sheath may differ in structure, thickness and development among groups; in cypriniforms there are actually three very thin layers to the sheath. A functional, well developed notochord is present throughout life in certain basal fish groups but not in cypriniforms. Kimmel et al, 1995.[TAO] Slender rod of fibrous connective tissue surrounding a core of fluid-filled cells of mesodermal origin; it lies above the gut and directly beneath the spinal cord. The notochord is present during early development and in a few cases it is retained through life; however, usually the notochord is replaced by the vertebral column.[AAO] relationship type change: differentiates_from mesoderm (AAO:0000304) CHANGED TO: develops_from mesoderm (UBERON:0000926)[AAO] (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (3) a stiff, longitudinal rod of turgid cells along the dorsal part of the body that is called a notochord (...).[well established][VHOG] notochordal In between vertebra the notochord becomes the nucleus pulposus, under it degenerates, and at anterior end in some species its tissue merges with some of the cranial bones.. Some organisms retain a post-embryonic notochord. AAO:0000327 BTO:0001768 CALOHA:TS-0690 EHDAA2:0001277 EHDAA:1241 EHDAA:6021 EMAPA:16191 EV:0100002 FMA:85521 GAID:1311 MAT:0000281 MESH:A16.254.610 MESH:D009672 NCIT:C12463 SCTID:308820002 TAO:0000135 UMLS:C0028439 VHOG:0000199 VSAO:0000032 Wikipedia:Notochord XAO:0000055 ZFA:0000135 http://evolution.berkeley.edu/evolibrary/images/history/notochords.jpg embryonic notocord notocord uberon notochorda UBERON:0002328 The notochord appears early in embryogeny and plays an important role in promoting or organizing the embryonic development of nearby structures. In most adult chordates the notochord disappears or becomes highly modified. In some non-vertebrate chordates and fishes the notochord persists as a laterally flexible but incompressible skeletal rod that prevents telescopic collapse of the body during swimming[TOLWEB] notochord http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png Somites are spheres of epithelial cells that form sequentially along the anterior-posterior axis of the embryo through mesenchymal to epithelial transition of the presomitic mesoderm. currently classified as an epithelial vesicle, consistent with EHDAA2 and https://github.com/obophenotype/uberon/wiki/The-neural-crest. Consider making 'somitic mesoderm' a separate term and correlate with regionalization processes. Consider moving ZFA term to 'trunk somite' as it is part of the trunk EDITOR_NOTE currently classified as an epithelial vesicle, consistent with EHDAA2 and https://github.com/obophenotype/uberon/wiki/The-neural-crest. Consider making 'somitic mesoderm' a separate term and correlate with regionalization processes. Consider moving ZFA term to 'trunk somite' as it is part of the trunk Post-cranial axial segments which form sclerotome and dermomyotome.[AAO] Undifferentiated mesodermal components of early trunk or tail segments or metameres, derived from paraxial mesoderm; forms myotomes, sclerotomes and perhaps dermatomes. Kimmel et al, 1995.[TAO] relationship loss: develops_from paraxial mesenchyme (TAO:0000942)[TAO] relationship type change: OBO_REL:part_of trunk (TAO:0001115) CHANGED TO: develops_from trunk (UBERON:0002100)[TAO] relationship type change: part_of paraxial mesoderm (AAO:0010568) CHANGED TO: develops_from paraxial mesoderm (UBERON:0003077)[AAO] (...) cephalocordates and craniates belong to a group known as Somitichordata. Somitichordate synapomorphies include (1) somites (...) (reference 1); The idea that the last common ancestor of bilaterian animals (Urbilateria) was segmented has been raised recently on evidence coming from comparative molecular embryology (reference 2).[well established][VHOG] somitic mesodermal cluster AAO:0010569 AEO:0001015 BTO:0001558 EHDAA2:0003436 EHDAA:366 EHDAA:699 EMAPA:31169 FMA:85522 GAID:1306 MAT:0000068 MESH:A16.254.425.660.750 MESH:D019170 MIAA:0000068 NCIT:C34302 TAO:0000155 UMLS:C0376449 VHOG:0000191 Wikipedia:Somite XAO:0000058 ZFA:0000155 uberon epimere epimere mesoderm epithelial somite somites somitic mesoderm somitus UBERON:0002329 When the somite becomes segmented from the segmental plate, it is composed of an epithelial sac enclosing mesenchymal somitocoel cells. Thereafter the somite differentiates into two parts, the ventro-medial mesenchymal sclerotome and the dorso-lateral epithelial dermomyotome. This change in the epithelial somite depends on surrounding tissue [PMID:15906248] somite http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png Anatomical system that consists of the glands and parts of glands that produce exocrine secretions and help to integrate and control bodily metabolic activity. Exocrine glands are glands that secrete their products (hormones) into ducts (duct glands). They are the counterparts to endocrine glands, which secrete their products (hormones) directly into the bloodstream (ductless glands) or release hormones (paracrines) that affect only target cells nearby the release site. [Wikipedia]. CALOHA:TS-2057 EHDAA2:0002225 EMAPA:35329 FMA:85539 MA:0002411 NCIT:C12957 UMLS:C1516995 Wikipedia:Exocrine_gland WikipediaCategory:Exocrine_system exocrine glandular system uberon UBERON:0002330 exocrine system An arterial trunk which is continuous with the heart and branches into the pulmonary arteries. pulmonary artery (trunk) trunk of pulmonary arterial tree main pulmonary artery pulmonary trunk The macula densa is an area of specialized cells in the distal tubule that makes contact with the vascular pole of the glomerulus[GO]. not part of a nephron or distal tubule in MA and FMA BTO:0003940 EMAPA:28399 FMA:86333 MA:0002603 NCIT:C33043 SCTID:244657003 UMLS:C0227662 Wikipedia:Macula_densa uberon UBERON:0002335 macula densa A specialized region of ectoderm found between the neural ectoderm (neural plate) and non-neural ectoderm and composed of highly migratory pluripotent cells that delaminate in early embryonic development from the dorsal neural tube and give rise to an astounding variety of differentiated cell types[MP]. consider including subclasses for pre- and post- migratory (e.g. sheets/paths/streams). EDITOR_NOTE consider including subclasses for pre- and post- migratory (e.g. sheets/paths/streams). A cell population arising from the dorsolateral aspect of the central nervous system primordium during the segmentation period, and later migrating along stereotyped pathways to give rise to a diverse and well-defined set of cell types including pigment cells, peripheral neurons and glia, and head cartilage. Kimmel et al, 1995.[TAO] Migratory cell population which delaminates from neural tube, borders surface ectoderm and neural ectoderm, and gives rise to many different tissue types.[AAO] A well developed neural crest population is present in lampreys (Horigome et al. 1999 ; Tomsa & Langeland, 1999) and gnathostomes. chordate fossils from the early Cambrian (Yunnanozoan and Haikouella) with apparent neural-crest derived structures (pharyngeal denticles and pharyngeal skeletons resembling the striped mucocartilage of the branchial bars in lamprey ammocoete larvae), suggests that neural crest arose very early in vertebrate evolution (Chen et al. 1999; Holland & Chen, 2001). The invertebrate chordates apparently lack defini- tive neural crest. One marker of migrating neural crest in some vertebrates, the antibody HNK1, does not recognize any cells in amphioxus embryos (Holland, unpublished). Even so, in both amphioxus and tunicates, cells at the edges of the neural plate and adjacent nonneural ectoderm share some properties of neural crest[PMID:11523831] We conclude that the neural crest is a vertebrate novelty, but that neural crest cells and their derivatives evolved and diversified in a step-wise fashion - first by elaboration of neural plate border cells, then by the innovation or co-option of new or ancient metazoan cell fates.[well established][VHOG] AAO:0010578 BTO:0001764 CALOHA:TS-0676 EHDAA2:0004419 EMAPA:32737 FMA:86666 GAID:1310 MAT:0000066 MESH:A16.254.600 MESH:D009432 MIAA:0000066 NCIT:C34222 SCTID:361462002 TAO:0000045 UMLS:C0027789 VHOG:0000057 Wikipedia:Neural_crest XAO:0000048 ZFA:0000045 neuronames:1366 NC uberon crista neuralis neural crest material UBERON:0002342 Gene notes: Many factors and genes, such as Pax3 (Tremblay et al., 1995), slug (Nieto et al., 1994), AP-2 (Zhang et al., 1996; Schorle et al., 1996), and Wnt-1/3a (Ikeya et al., 1997) are expressed in the dorsal most region of the neural tube, and have been shown to be involved in the generation of neural crest cells. neural crest http://upload.wikimedia.org/wikipedia/commons/5/5f/Gray644.png https://upload.wikimedia.org/wikipedia/commons/8/8f/Neural_Crest.png The part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. EFO:0002527 EMAPA:18605 FMA:87217 MA:0002572 SCTID:181301002 UBERON:0002345 descending thoracic aorta Embryonic ectoderm that gives rise to nervous tissue. (...) the ability of ectoderm to produce neuronal cells is a general metazoan feature.[well established][VHOG] neurectodermal we prefer neurectoderm to neural ectoderm since placodal ectoderm is not classified here AAO:0011074 BILA:0000039 CALOHA:TS-1212 EHDAA2:0001248 EHDAA:1498 EHDAA:255 EMAPA:16073 EV:0100004 FBbt:00001057 FBbt:00001061 FMA:87657 MAT:0000176 MIAA:0000176 NCIT:C34228 TAO:0001120 UMLS:C1518271 VHOG:0000150 Wikipedia:Neuroectoderm XAO:0000042 ZFA:0001120 neural ectoderm neuroectoderm uberon epithelium tubi neuralis; neuroectoderma neuaral ectoderm presumptive central nervous system ventral neurogenic region UBERON:0002346 neurectoderm The lower segment of the trunk, inferioposterior to the abdomen proper, in the transition area between the trunk and the lower limbs. pelvic MA and FMA differ in what they consider to be parts of the pelvis. MA includes ureter, urethra, urinary bladder, reproductive organs BTO:0001006 CALOHA:TS-2227 EFO:0002805 EMAPA:35931 EV:0100012 FMA:9578 GAID:87 MA:0000030 MESH:D010388 NCIT:C12767 SCTID:229765004 UMLS:C0030797 Wikipedia:Pelvis galen:Pelvis lesser pelvis pelvic region pelvis pelvis region true pelvis uberon UBERON:0002355 pelvic region of trunk Membrane organ that surrounds the brain and the spinal cord. layer of meninges meningeal layer meninx primitiva meninx A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas A gland that secretes products (excluding hormones and other chemical messengers) into ducts (duct glands) which lead directly into the external environment[WP]. Typical exocrine glands include sweat glands, salivary glands, mammary glands, stomach, liver, pancreas. Currently this is logically defined by the system it belongs to, but a better system may be base this on presence/absence of ducts. However, the dual nature of the liver should be taken into consideration here. Consider adding subclasses AEO:0000097 BTO:0000765 CALOHA:TS-2012 EHDAA2:0003097 EMAPA:35327 FMA:9596 GAID:34 MA:0002564 MESH:D005088 NCIT:C12712 SCTID:115976003 UMLS:C0015282 Wikipedia:Exocrine_gland ducted gland glandula exocrina uberon UBERON:0002365 exocrine gland Endocrine glands are glands of the endocrine system that secrete their products directly into the circulatory system rather than through a duct.[WP, modified]. AEO:0000098 BTO:0001488 CALOHA:TS-1300 EHDAA2:0003098 EMAPA:35999 FMA:9602 GAID:335 MA:0002563 MESH:D004702 NCIT:C12704 SCTID:40818001 UMLS:C0014133 Wikipedia:Endocrine_gland ductless gland glandula endocrina uberon ductless gland glandulae endocrinae UBERON:0002368 endocrine gland http://upload.wikimedia.org/wikipedia/commons/d/da/Illu_endocrine_system.png Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]. glandula adrenalis glandula suprarenalis adrenal adrenal capsule adrenal medulla cell atrabiliary capsule epinephric gland epinephros glandula suprarenalis interrenal gland suprarenal capsule suprarenal gland adrenal gland Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop. check - a subtype of gland? not in GO. NCIT has thymus and thymus gland. EHDAA2 has ductless gland. Anatomical structure which originates as several paired thickenings on the dorsal side of the pharyngeal pouches and secretes thymosin.[AAO] A thymus develops in all vertebrates from the endodermal epithelium of certain pharyngeal pouches and from the adjacent ectodermal epithelium. In fishes, all the pouches, or the first four, contribute to thymus formation, but in tetrapods, the number is more restricted. In mammals, only the third and fourth are involved, and the contribution of the third is by far the greater.[well established][VHOG] thymic AAO:0010548 BTO:0001374 CALOHA:TS-1043 EFO:0000860 EHDAA2:0002017 EHDAA:9119 EMAPA:18768 EV:0100138 FMA:9607 GAID:464 MA:0000142 MAT:0000080 MESH:D013950 MIAA:0000080 NCIT:C12433 SCTID:118507000 TAO:0001078 UMLS:C0040113 VHOG:0000253 Wikipedia:Thymus XAO:0000163 ZFA:0001078 thymus gland thymus organ uberon UBERON:0002370 thymus https://ccf-ontology.hubmapconsortium.org/objects/v1.0/VH_F_Thymus.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Thymus.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Thymus.glb https://upload.wikimedia.org/wikipedia/commons/c/cf/Illu_thymus.jpg The soft tissue that fills the cavities of bones. the soft tissue that fills the cavities of bones TODO - create superclass for bone marrow / head kidney. both are portions of tissue in the hematopoetic system. also consider adding as subclass of zone of bone organ for consistency with FMA. See also: Leydig and epigonal organs consider placement of NCIT:C53466 medullary bone The bone marrow is the hematopoietic organ in all vertebrates but fishes, in which hematopoiesis occurs in the kidney.[well established][VHOG] In adults, marrow in large bones produces new blood cells[Wikipedia:Bone_marrow] AAO:0011007 BTO:0000141 BTO:0000829 CALOHA:TS-0087 EFO:0000868 EMAPA:32760 EV:0100046 FMA:9608 GAID:1287 MA:0000134 MAT:0000084 MESH:D001853 MIAA:0000084 NCIT:C12431 SCTID:421320006 UMLS:C0005953 VHOG:0001218 Wikipedia:Bone_marrow XAO:0000123 galen:BoneMarrow medulla ossea medulla ossium uberon medulla of bone medullary bone UBERON:0002371 bone marrow http://upload.wikimedia.org/wikipedia/commons/7/74/Gray72-en.svg Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance. One of the four types of tissue in traditional classifications. It is largely a category of exclusion rather than one with a precise definition, but there are certain characteristics shared by all or most tissues in this category, such as involvement in structure and support, derived from mesoderm, and characterized largely by the traits of non-living tissue.[AAO] Portion of tissue that consists of mesodermally derived cells and intercellular matrix comprised of protein fibers and carbohydrates, which supports, ensheathes and binds together other tissues.[TAO] Tissue with cells that deposit non-polarized extracellular matrix including connective tissue fibers and ground substance.[VSAO] MA also has set of connective tissues AAO:0000098 BTO:0000421 CALOHA:TS-2009 EFO:0000952 EMAPA:35251 FMA:9640 GAID:100 MA:0000011 MAT:0000301 MESH:D003238 MIAA:0000301 NCIT:C12374 OpenCyc:Mx4rv-aBgZwpEbGdrcN5Y29ycA SCTID:361919005 TAO:0001641 UMLS:C0009780 VSAO:0000017 XAO:0001017 ZFA:0001632 galen:ConnectiveTissue portion of connective tissue textus connectivus uberon Bindegewebe UBERON:0002384 connective tissue Muscle tissue is a contractile tissue made up of actin and myosin fibers[GO]. One of the four types of tissue in traditional classifications. Tissue that contains cells with contractile filaments that move past each other and change the size of the cell. Muscle tissue also is separated into three distinct categories.[AAO] AAO:0000306 AEO:0000122 CALOHA:TS-0642 EHDAA2:0003122 EMAPA:32715 FMA:9641 MA:0002437 MESH:D009132 NCIT:C12435 SCTID:91727004 UMLS:C2328219 Wikipedia:Muscle_tissue galen:MuscleTissue muscular tissue portion of muscle tissue textus muscularis uberon UBERON:0002385 Vertebrate muscle is categorized into three major muscle types defined by their structural and functional properties: skeletal, cardiac and smooth. In Dmel the counterparts are somatic, heart/cardiac and visceral. Here we take a cell type based approach. muscle tissue Anatomical system that is involved in the production of hematopoietic cells. Anatomical system that consists of the blood and blood forming tissues.[AAO] Zebrafish developmental hematopoiesis shows close correspondence to the development of the mammalian hematopoietic system and is regulated by conserved molecular pathways.[well established][VHOG] hematopoietic In humans this is primarily the bone marrow, spleen, tonsils, and lymph nodes AAO:0011002 BTO:0000570 CALOHA:TS-0449 EFO:0000798 EMAPA:35402 EV:0100045 FMA:9667 GAID:1008 MA:0002434 MAT:0000022 MESH:D006413 MIAA:0000022 NCIT:C12909 SCTID:362587009 TAO:0005023 UMLS:C0018957 VHOG:0001624 Wikipedia:Haematopoiesis XAO:0000122 ZFA:0005023 haematological system haemopoietic system organa haemopoietica uberon Blutbildungssystem haematopoietic system hematological system hematolymphoid system hemopoietic system UBERON:0002390 hematopoietic system Any of the ducts that form the biliary tree, carrying bile from the liver to the small intestine. bile tube biliary duct gall duct hepatic duct bile duct Anatomical system that protects the body from foreign substances, cells, and tissues by producing the immune response and that includes especially the thymus, spleen, lymphoid tissue, lymphocytes including the B cells and T cells, and antibodies. The antibody-based immune system defined by the presence of the major histocompatibility complex (MHC), T cell receptor (TCR), B cell receptor (BCR) or recombination activating genes (RAGs) is known beginning from jawed fishes.[well established][VHOG] AAO:0011003 BILA:0000104 BTO:0005810 FMA:9825 GAID:328 MA:0002711 MESH:D007107 NCIT:C12735 SCTID:362590003 TAO:0001159 UMLS:C0020962 VHOG:0001247 Wikipedia:Immune_system XAO:0003152 ZFA:0001159 uberon UBERON:0002405 immune system Connected anatomical system that forms a barrier between an animal and its environment. In vertebrates, the integumental system consists of the epidermis, dermis plus associated glands and adnexa such as hair and scales. In invertebrates, the integumental system may include cuticle. (...) the integument of many tetrapods is reinforced by a morphologically and structurally diverse assemblage of skeletal elements. These elements are widely understood to be derivatives of the once all-encompassing dermal skeleton of stem-gnathostomes (...).[well established][VHOG] UBERON:0007029 AEO:0000154 BILA:0000118 CALOHA:TS-1299 CARO:0002001 EFO:0000807 EHDAA2:0000836 EHDAA2_RETIRED:0003154 EHDAA:6520 EMAPA:17524 EV:0100151 FBbt:00004969 FMA:72979 HAO:0000421 MA:0000014 MAT:0000033 MESH:D034582 MIAA:0000033 TADS:0000108 UMLS:C0037267 VHOG:0000403 XAO:0000176 galen:Surface integumentary system uberon body surface dermal system external covering of organism integumentum commune organism surface surface UBERON:0002416 integumental system The abdominal segment of the torso. EMAPA:35104 FMA:259211 MA:0000021 SCTID:362875007 Wikipedia:Lumbar uberon abdomen/pelvis/perineum lower body lower trunk lumbar region UBERON:0002417 abdominal segment of trunk Skeletal tissue that is avascular, rich in glycosaminoglycans (GAGs) and typically includes chondrocytes within isolated lacunae. Cartilage tissue is deposited by chondroblasts. cartilage tissue cartilaginous tissue chondrogenic tissue cartilage cartilages portion of cartilage tissue cartilage tissue A gland that is part of a skin of body [Automatically generated definition]. glandulae cutis set of skin glands skin glands skin glands set skin gland The part of the digestive system that contains the liver and the biliary system hepaticobiliary system liver and biliary system liver/biliary system hepatobiliary system A bone that is part of a limb [Automatically generated definition]. bone of extremity bone of limb free limb bone limb bone The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system[WP]. Part of the circulatory system which consists of a series of vessels which collect blood (exclusive of erythrocytes) which seep through capillary walls and return it to the veins.[AAO] Tetrapods have evolved distinct lymphatic systems, in which lymphatic capillaries help drain most of the tissues of the body.[well established][VHOG] lymphoid The lymphatic system of anuran amphibians is characterized by large lymphatic sacs and two pairs of lymph hearts that return lymph into the venous circulation but no lymph vessels per se [10.1152/japplphysiol.00201.2013] The lymphatic systems of reptiles and some birds have lymph hearts, and both groups have extensive lymph vessels, but their functional role in both lymph movement and plasma volume homeostasis is almost completely unknown [10.1152/japplphysiol.00201.2013] We follow FMA and MA in distinguishing between lymphatic system and lymphoid system, with lymhoid tissue part of the non-lymphatic component, although these terms are often used interchangeably. We assume the ZFA term lymphatic tissue actually corresponds to the broader class (e.g. ZFA lymph node in the ZFA lymphatic system). See tracker for more comments. UBERON:0002096 EHDAA2:0001043 EHDAA:8677 EMAPA:37664 FMA:74594 GAID:931 MA:0002435 MAT:0000197 MIAA:0000197 NCIT:C12746 SCTID:362589007 TAO:0000385 UMLS:C0024235 VHOG:0000842 Wikipedia:Lymphoid_system XAO:0003199 ZFA:0000385 lymphatic system uberon lymphatic circulatory system lymphatic drainage system systema lymphoideum UBERON:0002465 lymphoid system http://upload.wikimedia.org/wikipedia/commons/b/b3/TE-Lymphatic_system_diagram.svg Terminal segment of free limb, immediately distal to the zeugopod region. The fully developed autopod consists of the autopod skeleton plus associated structures such as integument, muscle tissue, vasculature etc. The autopod is divided into mesopodial, metapodiual, and acropodial segments. Examples: human hand, mouse paw, human foot autopod autopodial limb segment autopodial segment autopodium autopodium region distal free limb segment distal segment of free limb autopodial element distal segment of limb manus/pes paw paw/hand/foot/hoof pod autopod region The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). middle part of limb epipodium middle free limb segment middle limb segment zeugopod limb segment zeugopodial limb segment zeugopodium zygopod zygopodium middle segment of free limb zeugopod The proximal free limb segment. Includes as parts the stylopod skeleton. proximal part of limb propodium proximal free limb segment stylopodial limb segment stylopodium proximal segment of free limb stylopod Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts. see https://github.com/obophenotype/uberon/issues/27 Skeletal tissue with a collagen-rich extracellular matrix vascularized, mineralized with hydroxyapatite and typically including osteocytes located in lacunae that communicate with one another by cell processes (in canaliculi). Bone is deposited by osteoblasts.[VSAO] CALOHA:TS-2011 EMAPA:35179 FMA:224804 MA:0002780 MESH:D001842 NCIT:C13076 UMLS:C0391978 VSAO:0000047 Wikipedia:Bone_tissue XAO:0004040 ZFA:0005621 galen:BoneTissue calcium tissue osseous tissue osteogenic tissue mineralized bone tissue uberon bone portion of bone tissue UBERON:0002481 bone tissue Long bone is a limb bone that is subcylindrical and has a shaft with periosteum separating the ends of the bones. Long bones are present only in the limbs[VSAO:wd]. os longum long bone Replacement bone that forms within cartilage. ossified chondrogenic bone cartilaginous bone endochondral bones endochondral bone Connective tissue composed of elastic fibers. elastic connective tissue textus connectivus elasticus elastic fiber elastic tissue The middle layer of an artery or vein. [WP,unvetted]. tunica media vasorum tunica media The innermost layer of a blood vessel which is a lining of endothelial cells facing the lumen[Kardong]. Bichat's tunic intima tunica intima vasorum tunica intima A major subdivision of a mature or developing limb, including both skeletal elements (or the mesenchyme that gives rise to the skeletal elements) and associated tissues, such as muscle, connective tissue, integument. Examples: autopod region, zeugopod region, stylopod region, metapodial region, arm region. Excludes the limb girdles. free limb segment segment of limb subdivision of limb extremity part limb region region of limb limb segment An organ that functions as a secretory or excretory organ. an organ that functions as a secretory or excretory organ glandular UBERON:MIAA_0000021 AAO:0000212 AEO:0000096 BTO:0000522 EFO:0000797 EHDAA2:0003096 EHDAA:2161 EHDAA:4475 EHDAA:6522 EMAPA:18425 FBbt:00100317 FMA:7146 FMA:86294 HAO:0000375 MA:0003038 MAT:0000021 MIAA:0000021 NCIT:C13319 OpenCyc:Mx4rwP3vyJwpEbGdrcN5Y29ycA SCTID:134358001 UMLS:C1285092 Wikipedia:Gland WikipediaCategory:Glands galen:Gland glandular organ uberon Druese glandula UBERON:0002530 gland http://upload.wikimedia.org/wikipedia/commons/a/a1/Gray1026.png In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA] In amniote animal embryology, the epiblast is a tissue type derived either from the inner cell mass in mammals or the blastodisc in birds and reptiles. It lies above the hypoblast. In mammalian embryogenesis, the columnar cells of the epiblast are adjacent to the trophoblast, while the cuboidal cells of the hypoblast are closer to the blastocoele. The epiblast, whilst referred to as the primary ectoderm, differentiates to form all three layers of the trilaminar germ disc in a process called gastrulation[WP]. The outer of the two layers of the blastoderm that form during gastrulation, corresponding to primitive ectoderm during gastrulation and to the definitive ectoderm after gastrulation[ZFA]. MP says - tissue that gives rise to the ectoderm, endoderm and mesoderm of the embryo proper. In HOG, epiblast is part of primitive streak/blastpore, which is inconsistent with the MP definition of primitive streak as a ridge of the epiblast. Note that these terms, epiblast and hypoblast, are also used to describe layers of the avian embryonic blastoderm, but the layers so-named seem to be altogether different in these two kinds of vertebrate embryos(CVS). Consider obsoleting this as a grouping class In pregastrula zebrafish embryos, the epiblast is an inverted cup of cells that sits on top of a large yolk cell. (...) In amniote embryos (mammals and birds), gastrulation initiates in an epithelial layer called the epiblast. Cells in the epiblast undergo an epithelial to mesenchymal transition (EMT), migrate through the primitive streak (PS), and incorporate in the middle (mesoderm) or outer (endoderm) layer. The presumptive definitive endoderm (DE) cells invade and displace an outer layer of extraembryonic tissue cells, the hypoblast in chick and the visceral endoderm (VE) in mouse, which form supporting structures such as the yolk sac.[uncertain][VHOG] BTO:0004593 FMA:296704 MAT:0000067 MIAA:0000067 VHOG:0000243 Wikipedia:Epiblast epiblast uberon blastocyst ectoblast epiblastus primitive ectoderm UBERON:0002532 epiblast (generic) http://upload.wikimedia.org/wikipedia/commons/e/e3/Gray21.png One of a series of paired bulges that develop along the lateral walls of the foregut. The pharyngeal arches have developmental contributions from endoderm, mesoderm, and neural crest cells and are separated by anterior lateral endoderm out-pockets known as pharyngeal pouches. AAO:0010359 BTO:0001785 EFO:0000959 EHDAA:571 EMAPA:16117 FMA:293015 GAID:1292 MAT:0000242 MESH:D001934 MIAA:0000242 NCIT:C34249 SCTID:308766004 TAO:0001306 VHOG:0000155 Wikipedia:Pharyngeal_arch XAO:0000096 ZFA:0001306 pharyngeal arches branchial arch arcus pharyngei visceral arch UBERON:0002539 pharyngeal arch A subdivision of the autopod that has as part a series of phalanges together with associated vasculature, musculature, integument and nerves. It is continuous with the metapodial subdivision of the autopod, but does not include the metapodials. In species such as humans, fully formed digits are distinct, whereas in other species the digits may be connected by interdigital webbing, or may be completely unseparated (for example, in cetaceans). acropodial unit digit (phalangeal portion) plus soft tissue limb digit digit Ectodermal placode that develops in the head into a part of the sensory nervous system. With a few exceptions (lens, adenohypophyseal), cranial placodes are neurogenic. ectodermal placode placode ectodermal cranial placode cranial placodes cranial placode Anatomical space which contains portions of one or more body substances and is bounded by the internal surface of one maximally connected anatomical structure. Examples: cranial cavity, pharyngeal recess space, nasal cavity, tooth socket, cavity of serous sac, lumen of stomach, lumen of artery, fornix of vagina. cavity BIRNLEX:1011 EMAPA:37442 FMA:67552 MA:0002447 NCIT:C34007 galen:Cavity uberon UBERON:0002553 anatomical cavity Anatomical divisons of the brain according to one or more criteria, e.g. cytoarchitectural, gross anatomy. Parts may be contiguous in 3D or not, e.g., basal ganglia. anatomical structure of brain biological structure of brain brain anatomical structure brain biological structure brain part neuraxis segment neuroanatomical region segment of brain regional part of brain A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. olfactory placodes placoda nasalis placoda olfactoria nasal I placode nasal placode olfactory placode The part of the brain that is the morphological boundary between the midbrain and hindbrain and that is the location of an organizing center which patterns the midbrain and hindbrain primordia of the neural plate. MHB mid-hindbrain boundary mid-hindbrain junction midbrain hindbrain boundary isthmic organizer territory isthmo-cerebellar region isthmus isthmus/MHB midbrain-hindbrain boundary A temporary epithelium that derives from the outer layer of the ectdoerm and is shed once the inner layer differentiates to form a true epidermis. The outermost epidermal layer covering the fish at embryonic stages; derived from the EVL and thought to eventually be replaced by the superficial stratum of the epidermis. Sometimes used synonymously with EVL. Le Guellec et al, 2004.[TAO] relationship type change: OBO_REL:part_of ectoderm (TAO:0000016) CHANGED TO: develops_from ectoderm (UBERON:0000924)[TAO] In mice, the first non-basal layer formed at ~E9.5; it is a temporary structure composed of simple squamous epithelium that serves as the first barrier to the embryo's physical environment, exists throughout the entire keratinocyte stratification process, and sheds off at ~E17, when it is replaced by corneocytes[MP] In some mammals, Eyelid Fusion is thought to be driven by a population of cells which are derived from the periderm, the outermost layer of the developing epidermis Originally the epidermis is one layer thick, in most vertebrates it soon becomes a two-layered structure. The outer layer gives rise to the periderm. The periderm goes through distinct developmental phases and is ultimately sloughed into the amniotic fluid when differentiation of the underlying epidermal layers is complete. The function of the periderm is not known, but is thought to be related to transport/exchange between the fetus and the amniotic fluid (http://courses.washington.edu/hubio567/devbio/periderm.html) EHDAA2:0001846 EHDAA:6538 FMA:295662 TAO:0001185 UMLS:C1518973 VHOG:0001680 XAO:0000029 ZFA:0001185 skin periderm uberon EVL epidermis epithelial layer epidermis outer layer epitrichium periderm UBERON:0003055 periderm The portion of neural plate anterior to the mid-hindbrain junction. anterior neural plate pre-chordal neural plate The portion of neural plate posterior to the mid-hindbrain junction. posterior neural plate chordal neural plate Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. Kimmel et al, 1995.[TAO] It is reasonable to assume that the proximate invertebrate ancestor of the vertebrates had an amphioxus-like tail bud in its larval stage. This archetypal tail bud would have (...) (3) lacked any component of mesenchyme cells, (4) budded off new mesodermal segments directly, without any intervening zone of presomitic mesoderm (...). Then, early in vertebrate evolution, epithelium-to-mesenchyme interconversions (and the gene networks for effecting them) became prominent features of development. (...) In any case, conspicuous mesenchymal components tended to be added to the vertebrate tail bud itself. In addition, a mesenchymatous presomitic mesoderm (not a part of the tail bud proper) came to intervene between the tail bud and the forming somites.[well established][VHOG] AAO:0011086 EFO:0001982 EMAPA:16189 EMAPA:16752 TAO:0000279 VHOG:0000559 XAO:0000057 ZFA:0000279 segmental plate unsegmented paraxial mesoderm uberon PSM presumptive somite mesoderm somitogenic mesoderm somitomeric mesoderm unsegmented mesenchyme UBERON:0003059 presomitic mesoderm In mammals, the pronephric duct is the predecessor of the Wolffian duct[WP]. Duct of the embryonic kidney, present bilaterally ventral to the somites and leading to the anal region where it empties separately from, and just posterior to the anus. Kimmel et al, 1995.[TAO] The first-formed kidney duct, which drains the kidney of most anamniotes and becomes the ductus deferens of male amniotes. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-3, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] (...) in all craniates, the archinephric duct develops in embryogeny.[well established][VHOG] AAO:0011088 BTO:0005991 NCIT:C34279 SCTID:361406002 TAO:0000150 UMLS:C1283945 VHOG:0000082 Wikipedia:Pronephric_duct XAO:0000063 ZFA:0000150 uberon archinephric duct ductus pronephricus pronephric ducts UBERON:0003060 The pronephric duct collects the filtrate from the pronephric tubules and opens to the exterior of the pronephric kidney[GOC:mtg_kidney_jan10, PMID:15647339, XAO:0000063, ZFA:0000150] pronephric duct Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. Nests of developing blood cells arising late in the segmentation period from the intermediate mass, and located in the anterior-ventral tail, just posterior to the yolk extension. Kimmel et al, 1995.[TAO] Region located on the ventral surface of the developing embryo that is a site of hematopoiesis and that is analogous to the yolk sac blood islands of higher vertebrates.[AAO] relationship loss: part_of intermediate cell mass of mesoderm (TAO:0000033)[TAO] Small clusters of mesodermal cells called blood islands mark the embryonic debut of the cardiovascular system (in vertebrates) (reference 1); In birds and mammals, primitive hemangioblasts are extraembryonic, populating the yolk sac as the so-called blood islands (reference 2).[well established][VHOG] EHDAA2 distinguishes 3 types, but does not have a superclass. The VHOG class may refer to yolk sac ventral lateral plate mesoderm AAO:0011006 EFO:0003489 EHDAA:207 NCIT:C34113 TAO:0000094 TE:E5.11.2.0.0.0.4 UMLS:C1511224 VHOG:0000085 Wikipedia:Blood_island_of_umbilical_vesicle XAO:0000067 ZFA:0000094 blood islands uberon VBI caudal hematopoietic tissue posterior ICM posterior blood island ventral blood island UBERON:0003061 blood island A horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue head mesenchyme head mesoderm prechordal plate The intermediate mesoderm is located between the lateral mesoderm and the paraxial mesoderm. It develops into the kidney and gonads. Mesoderm between somite and lateral plate. Traditionally thought to give rise to the urogenital system.[AAO] (...)the mesoderm of a developing vertebrate transitionally differentiates into the following sub-types: Chordamesoderm (also known as axial mesoderm) which later on gives rise to notochord in all chordates, Paraxial mesoderm, Intermediate mesoderm, Lateral plate mesoderm (reference 1); The mesoderm is present in Bilateria, therefore they are sometimes called triploblasts. Ectoderm and endoderm are usually organized as epithelial layers, while mesoderm can be epithelial or a compact, three-dimensional tissue.[well established][VHOG] all AOs differ in the relationship between this structure and the mesoderm; in ZFA it is a subclass (and this is implied by the GO definition and GO relationships), in AAO it is part of, and in EHDAA2 it develops from the mesoderm (but in EHDAA2 the naming convention is to use 'paraxial mesenchyme', rather than 'paraxial mesoderm'). AAO:0010575 EMAPA:16056 EMAPA:16178 FMA:293147 NCIT:C34193 SCTID:361476001 TAO:0001206 UMLS:C1284010 VHOG:0000087 Wikipedia:Intermediate_mesoderm XAO:0000085 ZFA:0001206 uberon IM intermediate mesenchyme intermediate plate intermediate plate mesoderm mesenchyma intermedium UBERON:0003064 intermediate mesoderm http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png The second pharyngeal arch will form the hyoid apparatus. The cranial neural crest cells that populate the second pharyngeal arch emerge primarily from rhombomere 4 and will form skeletal elements. 2nd pharyngeal arch arcus pharyngeus secundus branchial arch 2 hyoid arch pharyngeal arch 2 second branchial arch second pharyngeal arch second visceral arch visceral arch 2 2nd arch 2nd visceral arch hyoid bars pharyngeal arches 2 pharyngeal arch 2 The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. The portion of the mesoderm underlying the midline of the embryo. [Gastrulation:_From_cells_to_embryo_(2004)_Cold_Spring_Harbor, Glossary_XV, New_York:_Cold_Spring_Harbor_Laboratory_Press, Stern_CD][VHOG] AAO:0011017 EFO:0003647 TAO:0001204 VHOG:0000107 Wikipedia:Chordamesoderm XAO:0000205 ZFA:0001204 uberon chordamesoderm UBERON:0003068 axial mesoderm http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png Portion of tissue that is part of the anterior neural keel and will form the optic vesicle[ZFA]. A paired ectodermal placode that becomes invaginated to form the embryonic lens vesicles. eye placode occular primordium ocular primordium optic placode optic placode of camera-type eye optic primordium eye anlage eye field optic field optic placodes eye primordium Multi-tissue structure that is comprised of neural and non-neural epithelial layers which will form the retina and retinal pigmented epithelium of the mature eye[ZFA]. double walled structured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye[MP]. eye cup eyecup ocular cup ophtalmic cup optic cup A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. lens placodes placoda lentis lens placode Paired organ that connects the primitive kidney Wolffian body (or mesonephros) to the cloaca and serves as the anlage for certain male reproductive organs. the Wolffian duct is what remains of the pronephric duct after the atrophy of the pronephros[WP]. In Zebrafish: Duct of the adult kidney (mesonephros), present bilaterally ventral to the somites and leading to the cloacal chamber[ZFA]. Consider adding subclasses for male and female specific variants TODO - mesonephric portion of the nephric duct Anatomical structure consisting of either of a pair of longitudinal ducts which carry urine and in males, sperm, to the cloaca.[AAO] The first-formed kidney duct, which drains the kidney of most anamniotes and becomes the ductus deferens of male amniotes. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-3, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] (...) in all craniates, the archinephric duct develops in embryogeny.[well established][VHOG] In the male the Wolffian duct persists, and forms for example the epididymis, the ductus deferens, the ejaculatory duct, seminal vesicle and efferent ducts. AAO:0000637 BTO:0005990 EHDAA2:0001243 EHDAA:1590 EMAPA:16577 GAID:1315 MESH:D014928 NCIT:C26469 SCTID:308800003 TAO:0000546 UMLS:C0043204 VHOG:0000082 Wikipedia:Mesonephric_duct XAO:0000242 ZFA:0000546 Wolffian duct uberon Leydig's duct archinephric duct ductus mesonephricus; ductus Wolffi renal duct UBERON:0003074 mesonephric duct http://upload.wikimedia.org/wikipedia/commons/6/6d/Gray1109.png A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA] A region of embryonic ectodermal cells that lie directly above the notochord. During neurulation, they change shape and produce an infolding of the neural plate (the neural fold) that then seals to form the neural tube[XAO]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium[ZFA]. The earliest recognizable dorsal ectodermal primordium of the central nervous system present near the end of gastrulation before infolding to form the neural keel; consists of a thickened pseudostratified epithelium. Kimmel et al, 1995.[TAO] (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...).[well established][VHOG] AAO:0011072 BTO:0001765 DHBA:10153 DMBA:15565 EHDAA:346 EHDAA:902 EMAPA:35593 FMA:293879 MESH:D054258 NCIT:C34225 RETIRED_EHDAA2:0001252 TAO:0000132 UMLS:C0920623 VHOG:0000068 Wikipedia:Neural_plate XAO:0000249 ZFA:0000132 neuronames:1362 uberon lamina neuralis presumptive central nervous system UBERON:0003075 neural plate https://upload.wikimedia.org/wikipedia/commons/8/8f/Neural_Crest.png posterior neural tube The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO] The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO]. Mesoderm lateral to the neural tube and notochord that is divided into cranial and post-cranial portions. The trunk portions further segment into somites.[AAO] Presently, Cephalochordata, Urochordata, and Vertebrata are placed as subphyla of the phylum Chordata, in which the overall organization of embryonic tissues (dorsal hollow nerve cord, ventral digestive tract, axial notochord, and bilateral paraxial mesoderm) is largely conserved. In contrast, the echinoderms and hemichordates are sister groups of the chordates and they lack the notochord and paraxial mesoderm. Thus, the basic mesodermal organization of vertebrates must have appeared first in the common ancestor of the chordates.[well established][VHOG] note that all AOs differ in the relationship between this structure and the mesoderm; in ZFA it is a subclass (and this is implied by the GO definition and GO relationships), in AAO it is part of, and in EHDAA2 it develops from the mesoderm (but in EHDAA2 the naming convention is to use 'paraxial mesenchyme', rather than 'paraxial mesoderm'). Also in ZFA it is part of the trunk whereas this conflicts with the division into head and trunk in ehdaa2 (which we follow here) AAO:0010568 EFO:0003515 EMAPA:16183 EMAPA:16751 FMA:293145 NCIT:C34244 SCTID:361475002 TAO:0000255 UMLS:C1284009 VHOG:0000114 Wikipedia:Paraxial_mesoderm XAO:0000259 ZFA:0000255 paraxial mesenchyme somitic mesoderm uberon mesoderma paraxiale UBERON:0003077 paraxial mesoderm http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png anterior neural tube Portion of the middle of the three primary germ layers of the embryo that resides on the periphery of the embryo, is continuous with the extra-embryonic mesoderm, splits into two layers enclosing the intra-embryonic coelom, and gives rise to body wall structures[MP]. Portion of mesoderm traditionally thought to give rise to limb bones and parts of the girdles.[AAO] The portion of the mesoderm of the trunk of vertebrate embryos lying lateral to the intermediate mesoderm. [...] [It] subdivides into two plates: one dorsal, called the somatopleure, and one ventral, called the splanchnopleure. [Gastrulation:_From_cells_to_embryo_(2004)_Cold_Spring_Harbor, Glossary_XV, New_York:_Cold_Spring_Harbor_Laboratory_Press, Stern_CD][VHOG] A ventrolateral zone of amphioxus mesoderm grows down to surround the gut. Homology of this zone to the lateral plate mesoderm of vertebrates is supported by site of origin and fate.[well established][VHOG] subclass of mesoderm in ZFA. UBERON:0006258 AAO:0010574 EHDAA2:0000919 EHDAA:379 EMAPA:16179 FMA:293149 NCIT:C34199 SCTID:361477005 TAO:0000121 UMLS:C1517749 VHOG:0000118 Wikipedia:Lateral_plate_mesoderm XAO:0000311 ZFA:0000121 LPM lateral mesoderm uberon lateral plate lateral plate mesenchyme mesoderma laminae lateralis UBERON:0003081 lateral plate mesoderm http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png A transitional population of migrating mesenchymal cells that derive from somites and that will become muscle cells. myomeres muscle plate myomere myotome region myotomes myotomus myotome Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline to form the heart rudiment or cone. should probably be merged with heart rudiment. Bilateral groups of cells consisting of three rows: one row of endocardial precursors medially and two rows of myocardical precursors laterally. The two populations fuse at the midline between 21 and 26 somites to form the heart rudiment or cone. Stainier 2001.[TAO] The fused aspects of ventral mesoderm, which have migrated from either side of the prechordal plate, and fused ventrally, just behind the cement gland. They will give rise to the endocardium at NF stage 27&28.[AAO] relationship loss: develops_from lateral mesoderm (TAO:0001065)[TAO] AAO:0011044 BTO:0001887 NCIT:C34276 TAO:0000028 UMLS:C1514450 XAO:0000336 ZFA:0000028 uberon cardiac field fused heart primordium UBERON:0003084 heart primordium Ventral somitic compartment that is a precursor of the axial skeleton[XAO]. Sclerotomes eventually differentiate into the vertebrae and most of the skull. The caudal (posterior) half of one sclerotome fuses with the rostral (anterior) half of the adjacent one to form each vertebra. From their initial location within the somite, the sclerotome cells migrate medially towards the notochord. These cells meet the sclerotome cells from the other side to form the vertebral body. From this vertebral body, sclerotome cells move dorsally and surround the developing spinal cord, forming the vertebral arch[WP]. Skeletogenic portion of somites.[AAO] The vertebrate sclerotome has no equivalent in amphioxus and is a novelty linked with the evolution of the axial skeleton.[well established][VHOG] part_of somite in XAO AAO:0010571 AEO:0000212 BTO:0006255 EHDAA2:0003439 EMAPA:31159 FMA:295652 NCIT:C34287 TAO:0001080 UMLS:C0183176 VHOG:0000680 Wikipedia:Sclerotome XAO:0000397 ZFA:0001080 sclerotomes uberon sclerotomus UBERON:0003089 sclerotome http://upload.wikimedia.org/wikipedia/commons/9/96/Gray65.png The initial thyroid precursor, the thyroid primordium, starts as a simple midline thickening and develops to form the thyroid diverticulum. This structure is initially hollow, although it later solidifies and becomes bilobed. The 2 lobes are located on either side of the midline and are connected via an isthmus. thyroid primordia thyroid primordium the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain optic stalks pedunculus opticus optic stalk neural crest cells (NCCs) originating in the anterior part of the developing embryo and residing between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordia; like their counterparts in the trunk, cranial NCCs also contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage. CNC cephalic neural crest cranial NCC population head NCC population crista neuralis cranialis head crest head neural crest cranial neural crest Gonochoristic organism that can produce female gametes. female human body female female organism Gonochoristic organism that can produce male gametes. male human body male male organism Anatomical structure that overlaps the outer epithelial layer and is adjacent to the space surrounding the organism. Organism subdivision which is the collection of anatomical structures on the body surface.[ZFA] AAO:0010337 AEO_RETIRED:0000010 EHDAA2_RETIRED:0003010 TAO:0000292 VSAO:0000001 XAO:0003028 ZFA:0000292 galen:SurfaceRegion anatomical surface feature uberon surface feature surface region surface structures UBERON:0003102 surface structure Anatomical structure that has as its parts two or more multi-tissue structures of at least two different types and which through specific morphogenetic processes forms a single distinct structural unit demarcated by bona fide boundaries from other distinct anatomical structures of different types. this class was introduced for consistency with CARO. However, in this ontology we typically classify organs directly under 'organ' rather than subdividing into compound and simple organs AAO:0010015 AEO:0000024 BILA:0000024 CARO:0000024 EHDAA2:0003024 HAO:0000024 TADS:0000598 TAO:0000496 TGMA:0001837 VHOG:0001723 XAO:0003041 ZFA:0000496 uberon organ UBERON:0003103 compound organ Portion of tissue composed of mesenchymal cells (motile cells that develop from epthelia via an epithelial to mesenchymal transition) and surrounding extracellular material. Mesenchyme has different embryological origins in different metazoan taxa - in many invertebrates it derives in whole or part from ectoderm. In vertebrates it derives largely from mesoderm, and sometimes the terms are used interchangeably, e.g. lateral plate mesoderm/mesenchyme. Portion of tissue consisting of loosely organized undifferentiated mesodermal cells that give rise to such structures as connective tissues, blood, lymphatics, bone, and cartilage[XAO]. A mesh-like cell arrangement, less compact than an epithelium[ZFA]. The part of the embryonic mesoderm, consisting of loosely packed, unspecialized cells set in a gelatinous ground substance, from which connective tissue, bone, cartilage, and the circulatory and lymphatic systems develop[BTO]. the relationship to mesoderm is weaker than develops_from in order to have classes such as 'head mesenchyme from mesoderm' make sense A mesh-like cell arrangement, less compact than an epithelium. Kimmel et al, 1995.[TAO] Portion of tissue consisting of loosely organized undifferentiated mesodermal cells that give rise to such structures as connective tissues, blood, lymphatics, bone, and cartilage.[AAO] mesenchymal AAO:0010427 AEO:0000145 BTO:0001393 CALOHA:TS-0620 EHDAA2:0003145 EV:0100007 NCIT:C13301 TAO:0000393 UMLS:C0162415 VHOG:0000170 Wikipedia:Mesenchyme XAO:0003046 ZFA:0000393 mesenchymal tissue mesenchyme tissue portion of mesenchymal tissue portion of mesenchyme tissue uberon mesenchyma UBERON:0003104 mesenchyme http://upload.wikimedia.org/wikipedia/commons/f/f4/Mesenchymal_Stem_Cell.jpg Subdivision of skeleton that includes all dermal bones in the cranial skeleton[ZFA,modified]. dendrocranium exocranium dermal skull roof dermatocranial cover roof of skull skull roof dermal bone cranium dermal part of skull dermal skull bones roofing bones of the skull skull exoskeleton dermatocranium The third branchial arch contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus. 3rd pharyngeal arch first gill arch gill arch 1 third pharyngeal arch third visceral arch visceral arch 3 3rd arch 3rd visceral arch branchial arch 1 first branchial arch pharyngeal arch 3 Contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus. AAO:0010366 EHDAA2:0000086 EHDAA:1663 EMAPA:16760 FMA:293035 SCTID:308770007 TAO:0001599 VHOG:0000299 XAO:0000449 ZFA:0001607 4th pharyngeal arch 4th visceral arch fourth pharyngeal arch visceral arch 4 4th arch fourth visceral arch UBERON:0003115 pharyngeal arch 4 The 6th pharyngeal arch. contributes to the development of the sternocleidomastoid and trapezius muscles 6th arch gill arch 4 sixth branchial arch visceral arch 6 6th pharyngeal arch 6th visceral arch branchial arch 4 fourth branchial arch sixth pharyngeal arch sixth visceral arch pharyngeal arch 6 The vessels formed within the fourth pair of branchial arches in embryogenesis. UBERON:0004350 AAO:0010420 EHDAA2:0000087 EMAPA:17004 SCTID:308777005 TAO:0005008 Wikipedia:Aortic_arches#Arch_4 XAO:0000355 ZFA:0005008 4th arch artery AA4 aortic arch 4 fourth aortic arch fourth branchial arch artery 4th aortic arch artery 4th branchial arch artery 4th pharyngeal arch artery systemic arch UBERON:0003121 proximal right subclavian pharyngeal arch artery 4 The vessels formed within the sixth pair of branchial arches in embryogenesis 6th arch artery AA6 aortic arch 6 sixth aortic arch sixth branchial arch artery 6th aortic arch artery 6th branchial arch artery 6th pharyngeal arch artery pulmonary arch pharyngeal arch artery 6 the outermost extraembryonic membrane chorion chorion (vertebrates) embryonic chorion fetal chorion uterine chorion chorion frondosum chorionic sac chorion membrane Upper portion of the skull that excludes the mandible (when present in the organism). bones of cranium ossa cranii set of bones of cranium skull minus mandible upper part of skull calvarium epicranial plate skeletal system of head cranium Anatomical structure that is part of the head consisting entirely of cranium and mandible[WP]. cranial skeleton skeletal system of head skull An organ involved in reproduction An organ involved in reproduction. GO uses genitalia for the singular organ EMAPA:17381 EMAPA:37731 MA:0001752 MESH:D005835 NCIT:C25177 SCTID:128181006 TGMA:0000591 UMLS:C0017420 WBbt:0008422 genital organ reproductive system organ sex organ uberon genitalia UBERON:0003133 reproductive organ A female organ involved in reproduction female organism reproductive organ female organism reproductive structure female organism reproductive system organ female organism sex organ female reproductive gland/organ female reproductive system organ female sex organ reproductive organ of female organism reproductive structure of female organism reproductive system organ of female organism sex organ of female organism female reproductive organ One of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO]. one of the two embryological structures that give rise to the kidney (the other is the ureteric bud). The metanephric blastema mostly develops into nephrons, but can also form parts of the collecting duct system.[WP]. Metanephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the metanephros[GO] A mass of intermediate mesodermal cells around the distal end of the ureteric bud that gives rise to nephrons in the metanephric kidney. [TFD][VHOG] When the ureteric buds emerge from the nephric duct, they enter the metanephrogenic mesenchyme. The ureteric buds induce this mesenchymal tissue to condense around them and differentiate into the nephrons of the mammalian kidney. As this mesenchyme differentiates, it tells the ureteric bud to branch and grow.[well established][VHOG] EHDAA2:0004062 EHDAA:4041 EHDAA:5021 EHDAA:5915 EMAPA:17375 SCTID:361529008 VHOG:0000540 Wikipedia:Metanephric_blastema metanephric blastema metanephric mesoderm metanephrogenic mesenchyme metanephros associated mesenchyme uberon UBERON:0003220 Genes: The positional specification of the metanephrogenic mesenchyme is negatively regulated by Foxc1 and Foxc2. Next the permanent kidney forming metanephrogenic mesenchyme is specified by Hox11 genes. The competence to respond to ureteric bud inducers is regulated by WT1. GDNF secretion restricted to posterior region by Robo2 and Sprouty1. The receptors for GDNF are synthesized in the nephric ducts and later in ureteric buds [ISBN:9780878932504 "Developmental Biology"] metanephric mesenchyme Endochondral bones that are often elongate and arranged in rows of articulating elements, and form the visible part of the digits. digit long bone long bone of digit phalange phalanges phalanx bone phalanx An endoderm that is part of a foregut [Automatically generated definition]. TODO - check EHDAA2:0004568 EHDAA:524 foregut endoderm uberon UBERON:0003258 endoderm of foregut A mesenchyme that is part of a chorion. chorion mesenchyme chorion mesoderm chorionic mesenchyme mesenchyme of chorion mesenchyme of chorion (vertebrates) chorionic mesenchyme A portion of skeletal muscle tissue that is part of a eye [Automatically generated definition]. eye skeletal muscle eye skeletal muscle tissue skeletal muscle tissue of eye eye skeletal muscle group skeletal muscle tissue of eye A subdivision of the skeleton that corresponds to the lower part of the mouth. The lower jaw skeleton includes the following elements, when present: lower jaw teeth, the mandible and other lower jaw bones, and Meckel's cartilage. lower jaw mandible lower jaw skeleton mandibles mandibular series skeleton of lower jaw A gland that is part of a foregut [Automatically generated definition]. foregut gland gland of foregut Racemose mucous glands beneath the mucous membrane of the pharynx. BTO:0004849 EHDAA2:0001461 EHDAA:2967 FMA:55075 pharynx gland uberon glandulae pharyngeae UBERON:0003295 pharyngeal gland Any gland that is part of the diencephalon. Examples: pineal gland, neurohypophysis. diencephalon gland interbrain gland gland of diencephalon A gland that is part of a integumental system [Automatically generated definition]. integumental gland integumental system gland integumentary gland gland of integumental system Mesenchyme that is part of a developing camera-type eye. mesenchyme of eye eye mesenchyme A layer of epithelial cells on the surface of the mucosa. lamina epithelialis mucosa lamina epithelialis mucosae epithelium of mucosa An epithelium that is part of a pharynx [Automatically generated definition]. Epithelium lining the pharynx consisting largely of simple columnar epithelium with a short segment (1mm) of stratified squamous epithelium on the ventral side. Chen et al, 2007.[TAO] BSA:0000112 BTO:0005240 EMAPA:16708 MA:0002725 RETIRED_EHDAA2:0001460 TAO:0001174 XAO:0003202 ZFA:0001174 epithelial tissue of pharynx epithelium of pharynx pharynx epithelial tissue pharynx epithelium uberon UBERON:0003351 pharyngeal epithelium A extraembryonic structure that develops_from a ectoderm and is part of a chorion. chorion ectoderm chorion epithelium chorionic epithelium chorionic ectoderm any of the striated muscles that move the eye and include: superior rectus, inferior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi ocular smooth muscle smooth muscle of eye A gland that is part of a digestive tract [Automatically generated definition]. EMAPA:18815 MA:0003202 digestive tract gland gland of digestive tract gland of lower gastrointestinal tract gut gland lower gastrointestinal tract gland uberon UBERON:0003408 gland of digestive tract A loop of Henle that is part of a inner medulla of kidney [Automatically generated definition]. EMAPA:28352 MA:0002623 kidney inner medulla loop of Henle loop of Henle, inner medullary portion uberon UBERON:0003455 inner renal medulla loop of Henle An artery that is part of a respiratory system [Automatically generated definition]. respiratory system artery A vein that is part of a thoracic cavity [Automatically generated definition]. EMAPA:37242 MA:0001903 cavity of chest vein cavity of thorax vein chest cavity vein pectoral cavity vein vein of cavity of chest vein of cavity of thorax vein of chest cavity vein of pectoral cavity vein of thoracic cavity uberon UBERON:0003479 thoracic cavity vein A portion of lymphoid tissue that is part of a thymus [Automatically generated definition]. EMAPA:37766 MA:0002673 MESH:D013950 NCIT:C38515 UMLS:C1515429 lymphoid tissue of thymus lymphoid tissue of thymus gland thymus gland lymphoid tissue uberon UBERON:0003483 thymus lymphoid tissue A blood vessel that is part of a head [Automatically generated definition]. adult head blood vessel blood vessel of adult head blood vessel of head head blood vessel A blood vessel that is part of an abdomen [Automatically generated definition]. MA:0000518 blood vessel of abdomen uberon UBERON:0003497 abdomen blood vessel UBERON:0012254 A blood vessel that is part of a heart [Automatically generated definition]. blood vessel of heart cardiac blood vessel heart blood vessel A blood vessel that is part of a respiratory system [Automatically generated definition]. apparatus respiratorius blood vessel blood vessel of apparatus respiratorius blood vessel of respiratory system respiratory system blood vessel A blood vessel that is part of the arterial system. Includes artery, arteriole and aorta. EMAPA:35144 MA:0000061 uberon UBERON:0003509 only in MA - supertype of artery, arteriole, aorta. arterial blood vessel A blood vessel that is part of a trunk [Automatically generated definition]. EMAPA:37237 MA:0000511 blood vessel of torso blood vessel of trunk torso blood vessel uberon UBERON:0003513 trunk blood vessel A blood vessel that is part of a kidney [Automatically generated definition]. EMAPA:28457 MA:0001682 TAO:0005306 ZFA:0005306 blood vessel of kidney renal blood vessel uberon UBERON:0003517 kidney blood vessel A blood vessel that is part of a thoracic cavity [Automatically generated definition]. EMAPA:37240 MA:0000554 blood vessel of cavity of chest blood vessel of cavity of thorax blood vessel of chest cavity blood vessel of pectoral cavity blood vessel of thoracic cavity cavity of chest blood vessel cavity of thorax blood vessel chest cavity blood vessel pectoral cavity blood vessel uberon UBERON:0003519 thoracic cavity blood vessel A capillary that is part of a kidney [Automatically generated definition]. EMAPA:31443 MA:0002586 SCTID:275409003 blood capillary of kidney capillary of kidney capillary vessel of kidney kidney blood capillary kidney capillary vessel renal capillary uberon UBERON:0003527 kidney capillary A gray matter that is part of a brain [Automatically generated definition]. brain grey matter brain grey substance gray matter of brain grey matter of brain grey substance of brain brain gray matter The regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites. brain white matter of neuraxis brain white substance white matter of brain white matter of neuraxis of brain white substance of brain brain white matter A portion of connective tissue that is part of a head [Automatically generated definition]. adult head connective tissue adult head portion of connective tissue adult head textus connectivus connective tissue of adult head connective tissue of head head portion of connective tissue head textus connectivus portion of connective tissue of adult head portion of connective tissue of head textus connectivus of adult head textus connectivus of head head connective tissue A long bone that is part of a limb [Automatically generated definition]. long bone of limb limb long bone An arterial blood vessel that is part of a respiratory system [Automatically generated definition]. respiratory system arterial blood vessel An arterial blood vessel that is part of a kidney [Automatically generated definition]. EMAPA:31436 MA:0002578 uberon kidney arterial system UBERON:0003644 kidney arterial blood vessel Any joint that is part of a (free) limb. joint of limb joint of limb skeletal system skeletal limb joint limb joint A collection of teeth arranged in some pattern in the mouth or other part of the body. The arrangement may be a simple row, a collection of rows, or a more elaborate structure, such as a toooth whorl. dentes set of teeth teeth teeth set collection of teeth teeth dentition The part of the ventral body cavity that is within the abdomen proper (excluding the pelvic cavity). cavity of abdominal compartment cavity of compartment of abdomen space of abdominal compartment cavitas abdominis abdominal cavity Anatomical space in the abdominal cavity behind (retro) the peritoneum. It has no specific delineating anatomical structures. Organs are retroperitoneal if they only have peritoneum on their anterior side. retroperitoneum spatium retroperitoneale retroperitoneal space Passages external to the liver for the conveyance of bile. These include the common bile duct and the common hepatic duct. bile duct extrahepatic part extrahepatic biliary system extrahepatic bile duct Passages within the liver for the conveyance of bile. Includes right and left hepatic ducts even though these may join outside the liver to form the common hepatic duct. bile duct intrahepatic part intrahepatic biliary system intrahepatic bile duct Portion of tissue in the nervous system which consists of neurons and glial cells, and may also contain parts of the vasculature. One of the four types of tissue in traditional classifications. Cells forming the brain, spinal cord and peripheral nervous system.[AAO] FMA definition includes vasculature AAO:0000325 AEO:0000123 EHDAA2:0003123 FMA:9642 GAID:609 MESH:D009417 NCIT:C13052 OpenCyc:Mx4rVmfYCsQ_QdeM_bFAeS8NRQ SCTID:91728009 UMLS:C0027757 nerve tissue nervous tissue portion of neural tissue uberon UBERON:0003714 neural tissue A bone of the metapodial skeleton metacarpal or metatarsal bone metacarpal/metatarsal metacarpal/metatarsal bone metapodi bone metapodial bone metapodium bone metapodium bone A blood vessel that is part of a thorax [Automatically generated definition]. blood vessel of thorax thorax blood vessel upper body blood vessel thoracic segment blood vessel A blood vessel that is part of an abdominal segment of trunk [Automatically generated definition]. EMAPA:37057 MA:0000524 abdominal segment of trunk blood vessel blood vessel of abdominal segment of trunk uberon UBERON:0003835 abdominal segment blood vessel A limb joint that is part of an autopod [Automatically generated definition]. autopod joint of limb autopod limb joint distal free limb segment joint of limb distal free limb segment limb joint joint of limb of autopod joint of limb of distal free limb segment limb joint of autopod limb joint of distal free limb segment paw joint autopod joint An anatomical space that surrounded_by a neural tube. cavity of neural tube lumen of neural tube neural tube neural lumen prosencoel central lumen neural lumen neurocoel neural tube lumen An epithelium that is part of a thymus, forming a supporting framework[MP,modified]. BTO:0001836 CALOHA:TS-1040 EHDAA2:0002019 EMAPA:35864 MA:0000768 NCIT:C45713 UMLS:C1711423 VHOG:0001426 ZFA:0005779 epithelial tissue of thymus epithelial tissue of thymus gland epithelium of thymus epithelium of thymus gland thymic epithelial tissue thymic epithelium thymus epithelial tissue thymus gland epithelial tissue thymus gland epithelium uberon UBERON:0003846 thymus epithelium A neural crest that has_potential_to_developmentally_contribute_to a midbrain. mesencephalic neural crest neural crest midbrain mesencephalic neural crest A neural crest that has_potential_to_developmentally_contribute_to a diencephalon. diencephalic neural crest future diencephalon neural crest neural crest diencephalon neural crest of future diencephalon diencephalon neural crest A neural crest that has_potential_to_developmentally_contribute_to a hindbrain. neural crest hindbrain rhombencephalic neural crest rhombomere neural crest rhombencephalon neural crest A neural crest that has_potential_to_developmentally_contribute_to a spinal cord. neural crest spinal cord spinal neural crest spinal cord neural crest Mesenchyme enclosed by a dental organ that gives rise to an odontogenic papilla. dental mesenchyme dental organ mesenchyme enamel organ mesenchyme tooth enamel organ mesenchyme tooth mesenchyme uncondensed odontogenic mesenchyme A presumptive structure that has the potential to develop into a ganglion. presumptive ganglion An anatomical cavity that has the potential to develop into a coelemic cavity lumen. future coelomic cavity lumen uberon body cavity precursor UBERON:0003886 future coelemic cavity lumen The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom The part of the coelom in the embryo between the somatopleuric and splanchnopleuric mesoderm; the principal body cavities of the trunk (thoracic, abdominal, and pelvic) arise from this embryonic part of the coelom. consider merging with coelom. TODO - add spatial relationships to halves of LPM. Note the OG places XAO and ZFA coelem terms here. editor note: TODO check ZFA, which appears to be a structure present in adults (...) I regard it unlikely that coeloms of all bilaterian animals are comparable and evolved very early. Considering all these questions, few convincing characters concerning the evolution of body cavities remain to be named. (...) A segmental coelom appears to have evolved at least two times, in Annelida and in Myomerata (Acrania and Craniota).[well established][VHOG] EHDAA:251 EMAPA:16088 NCIT:C34195 UMLS:C1512940 VHOG:0000316 Wikipedia:Intraembryonic_coelom somatic coelom uberon UBERON:0003887 intraembryonic coelom Initial section of the oviduct through which the ova pass from the ovary to the uterus salpinges salpinx mammalian oviduct uterine tube (sensu Mammalia) fallopian tubes female paramesonephric duct paramesonephric duct of female tuba uterina fallopian tube paired ducts of the embryo that run down the lateral sides of the urogenital ridge and terminate at the mullerian eminence in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, and the upper portion of the vagina; in the male, they are lost. These ducts are made of tissue of mesodermal origin[WP]. develops either by lengthwise splitting of the archinephric duct (in chondrichthyans and some amphibians) or by a elongated invagination of the coelomic epithelium (other vertebrates) In males, the oviducts regress. The cranial end of the oviduct maintains an opening into the coelom (which primitively may have been the anteriormost coelomic funnels connecting the nephrocoel with the coelom). This opening is the ostium tubae[USM]. Muellerian duct Müllerian duct ductus paramesonephricus paramesonephric duct early paramesonephric duct Mullerian duct Connective, non-functional supportive framework of a biological cell, tissue, or organ. Contrast with parenchyma. stromal FMA:81494 NCIT:C67387 UMLS:C0927195 uberon stromal connective tissue UBERON:0003891 stroma A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. embryological hepatic plate primordium of the liver hepatic plate liver bud liver endoderm liver primordium The part of the retina that contains neurons and photoreceptor cells[GO]. neural layer of retina neural retina neuroretina stratum nervosum (retina) stratum nervosum retinae neural retinal epithelium retinal neural layer hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. tooth-like organ tooth-like structure Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. contrast with a multi-tissue tube, which has as parts both epithelium, connective tissue, possibly muscle layers AEO:0000114 EHDAA2:0003114 FBbt:00007474 epithelial or endothelial tube uberon UBERON:0003914 epithelial tube Any endothelium that has the quality of being cylindrical [Automatically generated definition]. uberon UBERON:0003915 endothelial tube Kidney mesenchyme is the tissue made up of loosely connected mesenchymal cells in the kidney[GO]. check this mesenchyme of kidney uberon UBERON:0003918 kidney mesenchyme A blood vessel that carries blood from the capillaries toward the heart A blood vessel that carries blood from the capillaries toward the heart. EMAPA:35932 FMA:86188 MA:0000066 segment of venous tree organ venous tree organ segment uberon UBERON:0003920 Compare to: vein venous blood vessel embryonic structure that develops into pancreatic bud. pancreatic primordium pancreatic anlage pancreatic endoderm primordial pancreas pancreas primordium The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. pancreatic bud pancreatic buds pancreas epithelium pancreatic anlage pancreatic epithelial bud pancreatic bud that gives rise to the accessory pancreatic duct. pancreas dorsal primordium duct bud pancreas primordium dorsal bud primary pancreatic bud dorsal pancreas anlage dorsal pancreatic anlage posterior pancreatic anlage posterior pancreatic bud dorsal pancreatic bud pancreatic bud that gives rise to the major pancreatic duct. pancreas primordium ventral bud pancreas ventral primordium duct bud anterior pancreatic anlage anterior pancreatic bud ventral pancreas anlage ventral pancreatic anlage ventral pancreatic bud A duct that is part of a digestive system [Automatically generated definition]. duct of digestive system duct of gastrointestinal system gastrointestinal system duct digestive system duct An epithelium that lines the lumen of the digestive tract. Epithelium lining the lumen of the gut.[TAO] BTO:0000956 EHDAA2:0004567 EMAPA:32928 FBbt:00047166 MA:0003201 NCIT:C12963 TAO:0005123 UMLS:C0836205 XAO:0003200 ZFA:0005123 digestive tract epithelial tissue epithelial tissue of digestive tract epithelial tissue of gut epithelium of digestive tract epithelium of gut gastrodermis gut epithelial tissue gut epithelium uberon alimentary tract epithelium UBERON:0003929 digestive tract epithelium White matter that is part of a diencephalon [Automatically generated definition]. diencephalic tract/commissure diencephalic tracts and commissures predominantly white regional part of diencephalon white matter of diencephalon diencephalic white matter The internal feminine genital organs, including the ovaries, uterine tubes, uterus, uterine cervix, and vagina. female internal genitalia internal female genital organ internal genitalia of female reproductive system organa genitalia feminina interna internal female genitalia anatomical valve valve The funnel-like expansion of the abdominal extremity of the uterine tube[MP] infundibulum infundibulum of oviduct infundibulum of uterine tube infundibulum of fallopian tube infundibulum tubae uterinae uterine tube infundibulum A transitional population of migrating mesenchymal cells that derive from somites and that will become dermal cells. Not to be confused with 'dermatome segment of skin'. AAO:0011028 AEO:0001017 EHDAA2_RETIRED:0003428 EHDAA:1719 EHDAA:1725 EHDAA:1731 EHDAA:1737 EMAPA:32838 FMA:295656 UMLS:C0180383 XAO:0000220 cutis plate dermatomal mesenchyme uberon epimere mesoderm mesenchyma dermatomiale UBERON:0004016 dermatome The single layer of epithelial cells that lines the early neural tube and develops into the nervous system and into the neural crest cells germinal neuroepithelial layer germinal neuroepithelium original neural tube germinal neuroepithelium One of the fine terminal elements of the bile duct system, leaving the portal canal, and pursuing a course at the periphery of a lobule of the liver[BTO]. the excretory ducts of the liver that connect the interlobular ductules to the right or left hepatic duct[MP] bile ductule biliary ductule ductuli biliferi bile capillary biliary ductule cholangiole terminal cholangiole biliary ductule The layer of undifferentiated, proliferating cells that line the neural tube lumen that is the immediate transformation of the germinal neuroepithelium ependymal layer neural tube ependymal layer neural tube ventricular germinal zone neural tube ventricular zone neural tube ependymal zone neural tube ventricular layer The layer of glia and differentiating neurons that forms as a second layer around the germinal neuroepithium; as this develops it comes to lie between the ventricular and marginal layers and includes the basal and alar plates. Develops into neurons and glia forming a gray matter layer. neural tube intermediate zone future brain marginal layer neural tube mantle layer The outermost layer of the neural tube that consists of axons from the developing mantle layer and will form the white matter neural tube marginal zone brain marginal zone neural tube marginal layer Any of the veins that carries deoxygenated blood from a part of the body into the right atrium of the heart. AAO:0010215 BTO:0001438 EMAPA:18415 FMA:321896 GAID:547 MA:0000068 MESH:D014684 NCIT:C12817 SCTID:244405007 UMLS:C0042460 Wikipedia:Venae_cavae uberon caval vein venae cavae UBERON:0004087 vena cava http://upload.wikimedia.org/wikipedia/commons/3/35/Relations_of_the_aorta,_trachea,_esophagus_and_other_heart_structures.png https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Blood_Vasculature.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Blood_Vasculature.glb https://upload.wikimedia.org/wikipedia/commons/7/7c/Heart_numlabels.png The subdivision of the face that includes the eye (eyeball plus adnexa such as eyelids) and the orbit of the skull and associated parts of the face such as the eyebrows, if present content of orbital part of eye eye region orbital part of face ocular and peri-ocular region ocular region orbital content orbital part of eye orbital region The collecting duct system of the kidney consists of a series of tubules and ducts that connect the nephrons to the ureter. It participates in electrolyte and fluid balance through reabsorption and excretion, processes regulated by the hormones aldosterone and antidiuretic hormone. FMA:265239 SCTID:279371005 Wikipedia:Collecting_duct_system collecting duct system kidney collecting duct system uberon tubulus renalis colligens UBERON:0004100 renal collecting system http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png 2 2 2 Any tube, opening or passage that connects two distinct anatomical spaces. FMA has both conduit and conduit space. In EHDAA2 this is a surface feature AEO:0000080 EHDAA2:0003080 FMA:242873 SCTID:346902003 Wikipedia:Foramen foramen foramina uberon opening ostia ostium UBERON:0004111 anatomical conduit An internal pocketing of pharyngeal endoderm that contacts a region of ectoderm (a pharyngeal cleft) and interdigitates in the anterior and posterior directions with the pharyngeal arches. branchial pouch visceral pouch pharyngeal pouches visceral pouches pharyngeal pouch An anatomical structure that develops (entirely or partially) from the endoderm. Grouping term for query purposes uberon UBERON:0004119 endoderm-derived structure An anatomical structure that develops (entirely or partially) from the mesoderm. Grouping term for query purposes FBbt:00025998 mesodermal derivative uberon UBERON:0004120 mesoderm-derived structure An anatomical structure that develops (entirely or partially) from the ectoderm. Grouping term for query purposes ectodermal deriviative uberon UBERON:0004121 ectoderm-derived structure Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction.[AAO] relationship type change: differentiates_from intermediate mesoderm (AAO:0010575) CHANGED TO: develops_from intermediate mesoderm (UBERON:0003064)[AAO] Kidneys and gonads (of vertebrates) develop from adjacent tissues, and after the excretory or urinary ducts have developed, the reproductive system usually taps into them or their derivatives.[well established][VHOG] genitourinary urogenital AAO:0000624 BILA:0000122 BTO:0003091 EFO:0003864 EHDAA:1013 EMAPA:16367 EV:0100094 FMA:280610 GAID:362 MESH:D014566 NCIT:C12810 SCTID:278861008 UMLS:C0042066 VHOG:0000286 XAO:0000140 galen:GenitoUrinarySystem urogenital system uberon GU tract UG tract Urogenitalsystem genito-urinary system genitourinary tract urogenital tract UBERON:0004122 genitourinary system The optic vesicle is the evagination of neurectoderm that precedes formation of the optic cup[GO]. Portion of tissue that is comprised of neuroepitheium which has pinched off from the anterior neural keel and will form the optic cup[ZFA]. evagination eye vesicle ocular vesicle optic vesicles optic vesicle In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the loop of Henle. It has a brush border epithelial morphology[GO]. TODO - ensure definition works across species. BTO:0001498 CALOHA:TS-0509 EMAPA:28281 MA:0002611 MESH:D007687 kidney proximal tubule proximal kidney tubule renal proximal tubule uberon UBERON:0004134 proximal tubule The distal tubule is a nephron tubule that consists of the distal convoluted tubule and distal straight tubule segments The distal tubule is a nephron tubule that consists of the distal convoluted tubule and distal straight tubule segments. BTO:0000482 CALOHA:TS-0504 EMAPA:28387 MA:0002633 MESH:D007686 kidney distal tubule renal distal tubule uberon UBERON:0004135 distal tubule The intermediate tubule is a nephron tubule that lies between the proximal and distal tubules The intermediate tubule is a nephron tubule that lies between the proximal and distal tubules. TODO - check for applicability across species FMA:17718 renal intermediate tubule tubulus attenuatus uberon UBERON:0004136 intermediate tubule The first recognizable structure derived from the heart field The first recognizable structure derived from the heart field. TODO - check plate vs rudiment vs primordium vs endocardial tube. See XAO (In vertebrates) The embryonic mesoderm is the source of both the cardiogenic plate, giving rise to the future myocardium as well as the endocardium that will line the system on the inner side.[well established][VHOG] EHDAA2:0000215 EMAPA:16106 VHOG:0000975 myocardial plate uberon cardiac crescent cardiogenic crescent heart rudiment UBERON:0004139 cardiogenic plate A specific region of the lateral mesoderm that will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle. this term denotes the primary heart field; GO:0003128 denotes the superclass of primary and secondary: specific region of the lateral mesoderm into the area which will form the primary beating heart tube[GO:0003138] XAO:0004185 first heart field primary heart field uberon FHF PHF heart field UBERON:0004140 primary heart field An epithelial tube that will give rise to the mature heart. the paired, longitudinal, endothelial-lined channels formed from the cardiogenic mesoderm in embryonic development; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce to form the right and left endocardial heart tubes which then fuse in cephalo-caudal direction to form a single primitive heart tube. AAO:0010411 EFO:0003526 EMAPA:32685 NCIT:C34161 TAO:0000360 XAO:0000337 ZFA:0000360 embryonic heart tube endocardial heart tube endocardial tube uberon UBERON:0004141 heart tube The outflow tract is the portion of the heart through which blood flows into the arteries The outflow tract is the portion of the heart through which blood flows into the arteries. EHDAA2:0001351 EHDAA:464 EHDAA:798 EMAPA:16346 MA:0000100 VHOG:0000670 XAO:0004139 cardiac outflow tract heart outflow tract arterial (outflow) pole UBERON:0004145 outflow tract A cardiac chamber surrounds an enclosed cavity within the heart A cardiac chamber surrounds an enclosed cavity within the heart. FMA:7095 OpenCyc:Mx4rmexpjPdAEduAAAAOpmP6tw SCTID:276456008 chamber of heart heart chamber uberon UBERON:0004151 generic enough to cover FBbt:00003156 heart chamber but this is a cavity. GO defines it as the cavity. TODO - move subclasses. Note this also includes sinus venosus cardiac chamber A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG]. transverse septum septum transversum The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals internal genitalia internal genitals internal reproductive organ internal sex organ internal genitalia The external genitalia are the outer sex organs, such as the penis or vulva in mammals The external genitalia are the outer sex organs, such as the penis or vulva in mammals. FMA:45643 SCTID:362207005 external genitalia uberon external reproductive organ external sex organ UBERON:0004176 TODO: make a subdivision of reproductive system. Relabel. See https://github.com/obophenotype/uberon/issues/547 external genitalia Organ that is part of the hematopoietic system. consider splitting out lymph organ, compare with lymph node the organs in which the formed elements of the blood and lymph are produced[http://encyclopedia2.thefreedictionary.com/Hematopoietic+Organs]. the FMA class 'lymphoid organ' is a general anatomical term BTO:0004605 EMAPA:37665 FMA:7143 MA:0000747 SCTID:361338006 haematological system organ haemopoietic system organ hematopoeitic organ hematopoietic system organ organ of haematological system organ of haemopoietic system organ of hematopoietic system organ of organa haemopoietica organa haemopoietica organ hematopoeitic or lymphoid organ lymph organ lymphoid organ uberon UBERON:0004177 hemopoietic organ A portions of the gut that is derived from endoderm. endodermal gut gut endoderm endodermal part of digestive tract The glomerular epithelium is an epithelial tissue that covers the outer surfaces of the glomerulus. The glomerular epithelium consists of both parietal and visceral epithelium. Metanephric glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros. TODO - check - GO says outer, BTO says inner. Make this a superclass BTO:0001515 EMAPA:35458 MA:0002847 epithelium of glomerulus epithelium of kidney glomerulus epithelium of renal glomerulus kidney glomerular epithelium uberon glomerular epithelial cell UBERON:0004188 glomerular epithelium The glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus. BTO:0004631 endothelium of renal glomerulus renal glomerulus endothelium uberon UBERON:0004189 glomerular endothelium The glomerulus vasculature is composed of the tubule structures that carry blood or lymph in the glomerulus. glomerulus vasculature renal glomerulus vascular network renal glomerulus vasculature vascular network of renal glomerulus vasculature of renal glomerulus uberon UBERON:0004190 renal glomerulus vasculature A sub-portion of the loop of Henle in the nephron of the kidney that is permeable to ions but not to water. check relationship to distal tubule EMAPA:28328 EMAPA:28361 FMA:17720 MA:0001678 Wikipedia:Thin_ascending_limb_of_loop_of_Henle ascending limb thin segment of loop of Henle ascending thin limb pars ascendens (tubulus attenuatus) thin ascending limb thin ascending limb of loop of Henle uberon UBERON:0004193 loop of Henle ascending limb thin segment http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron. EMAPA:27681 ZFA:0005588 CSB uberon UBERON:0004198 comma-shaped body The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron. TODO EMAPA:27756 VO:0010896 ZFA:0005589 SSB stage II nephron uberon UBERON:0004199 S-shaped body Kidney pyramids are the conical arrangements of tubules that constitute the renal medulla in a multi-lobed mammalian kidney; they contain the loops of Henle and the medullary collecting ducts. not the same as FMA:50609 Pyramid (which is a volume / dimensional entity) UBERON:0002449 UBERON:0005098 pyramid BTO:0003926 FMA:258870 MA:0001654 NCIT:C12886 NCIT:C33436 SCTID:361328001 UMLS:C0227629 UMLS:C1514613 Wikipedia:Renal_pyramids Malpighian pyramid renal pyramid uberon Malphigian pyramid Malpighian pyramid medullary pyramid pyramid of Malphigi pyramid of Malpighi pyramides renales pyramis renalis renal medullary region UBERON:0004200 kidney pyramid https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Kidney_L.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Kidney_R.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Kidney_L.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Kidney_R.glb https://upload.wikimedia.org/wikipedia/commons/7/7e/Kidney_PioM.png The inner stripe is a deep, centrally located portion of the renal outer medulla and is traversed by thick and thin portions of nephron tubules. EMAPA:29675 FMA:76663 MA:0002626 inner stripe inner stripe of medulla of kidney inner stripe of outer medulla inner stripe of renal medulla outer medulla inner stripe stria interna medullae renalis uberon UBERON:0004201 kidney outer medulla inner stripe The outer stripe is the region of the kidney that lies distal to the line of termination of the straight renal tubules The outer stripe is the region of the kidney that lies distal to the line of termination of the straight renal tubules. EMAPA:29663 FMA:76662 MA:0002629 outer medulla outer stripe outer stripe outer stripe of medulla of kidney outer stripe of outer medulla outer stripe of renal medulla stria externa medullae renalis uberon UBERON:0004202 kidney outer medulla outer stripe The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex. UBERON:0005267 BTO:0002643 EMAPA:28130 MA:0002600 kidney cortex collecting duct uberon renal cortex collecting duct UBERON:0004203 cortical collecting duct The outer medullary collecting duct is the portion of the collecting duct that lies in the renal outer medulla. UBERON:0005186 EMAPA:28346 MA:0002599 kidney outer medulla collecting duct outer renal medulla collecting duct uberon UBERON:0004204 outer medullary collecting duct The inner medullary collecting duct is the portion of the collecting duct that lies in the renal inner medulla. UBERON:0005187 BTO:0004544 EMAPA:28370 MA:0002598 inner renal medulla collecting duct kidney inner medulla collecting duct uberon papillary collecting duct UBERON:0004205 inner medullary collecting duct Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron Nephrogenic mesenchyme is the tissue made up of loosely connected mesenchymal cells in the nephron. mesenchyme of nephron nephron mesenchyme uberon UBERON:0004208 The detailed events associated with the differentiation of the nephrogenic mesenchyme are somewhat complex. It has been suggested that each terminal branch of the ureteric bud stimulates the associated cap mesenchyme tissue to form a renal vesicle (the most primitive stage of nephron development: a stage I nephron). This then elongates, becomes a comma-shaped and then an S-shaped body (stage II nephron), and makes contact with and fuses with the distal component of the ureteric bud. The latter then forms the collecting duct. One fold of the S-shaped body gives rise to Bowman's capsule (also termed the glomerular capsule). Soon afterwards, endothelial cells invade to make a capillary knot-like outgrowth, the glomerular tuft, which goes on to form the glomerulus. The inner epithelial layer of the Bowman's capsule (also called the visceral epithelium, or podocyte layer because it consists of podocytes) is closely apposed to the endothelial glomerulus. Together, the Bowman's capsule and the glomerulus comprise the definitive renal corpuscle. The rest of the nephron elongates to form components of the proximal tubule, the loop of Henle and the distal tubule. The distal pole of the developing nephron connects to the ureteric bud that induced it at an early stage of nephron/ collecting duct development, before differentiation of the proximal tubule, the loop of Henle and the distal tubule are complete. This connection allows the excretory products produced by the kidney to be removed and subsequently transferred, via the ureter, into the bladder where they are stored until it is appropriate to empty the bladder. [http://www.gudmap.org/About/Tutorial/DevMUS.html#DMK_Nephron] nephrogenic mesenchyme The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells. note that this class includes both metanephric and mesonephric vesicles - ZFA and EHDAA2 associations are placed with these classes. TODO - make a more specific develops_from relationship - see UBERON:0005107 ! metanephric cap stage I nephron uberon UBERON:0004209 renal vesicle The nephron epithelium is a tissue that covers the surface of a nephron The nephron epithelium is a tissue that covers the surface of a nephron. epithelial tissue of nephron epithelium of nephron nephron epithelial tissue uberon UBERON:0004211 nephron epithelium The small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus. Capillary that is part of the renal glomerulus. Glomerular capillary endothelial membranes in zebrafish normally have a fenestrated morphology that is visible at the ultrastructural level.[TAO] EMAPA:28245 FMA:274259 MA:0002587 NCIT:C32684 SCTID:362049007 TAO:0005284 UMLS:C0226356 ZFA:0005284 blood capillary of renal glomerulus capillary of renal glomerulus capillary vessel of renal glomerulus renal glomerulus blood capillary renal glomerulus capillary renal glomerulus capillary vessel uberon glomerular capillaries glomerular capillary system UBERON:0004212 glomerular capillary The smooth muscle tissue surrounding the urothelium of the kidney pelvis. EMAPA:28120 FMA:262022 MA:0002631 kidney pelvis smooth muscle renal pelvis smooth muscle smooth muscle tissue of renal pelvis uberon pelvic smooth muscle UBERON:0004227 kidney pelvis smooth muscle smooth muscle found within, and composing the majority of the wall of blood vessels. blood vessel involuntary muscle blood vessel non-striated muscle blood vessel smooth muscle tissue involuntary muscle of blood vessel non-striated muscle of blood vessel smooth muscle of blood vessel smooth muscle tissue of blood vessel vascular smooth muscle vascular smooth muscle tissue blood vessel smooth muscle A muscle that is part of the eye region. eye muscle Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body.[VSAO] skeletal AEO:0000168 EHDAA2:0001843 EHDAA:5047 EMAPA:17213 FMA:23875 GAID:177 MA:0003006 MAT:0000032 MESH:D012863 MIAA:0000032 OpenCyc:Mx4rvVi1rpwpEbGdrcN5Y29ycA SCTID:361378004 VSAO:0000026 Wikipedia:Skeleton XAO:0004053 galen:Skeleton set of all bones set of bones of body uberon UBERON:0004288 skeleton https://github.com/obophenotype/uberon/wiki/The-skeletal-system The bilaminar epithelium formed from the myotome and dermatome. Epithelial sheet on the external surface of the somite that gives rise to trunk, muscle and dermis. Within the dermomyotome there is also a medio-lateral difference. The central region makes dermis, the mesenchymal connective tissue of the back skin. The medial region (closest to neural tube) makes epaxial muscle, and the lateral region (furthest from neural tube) makes hypaxial muscle[http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=eurekah&part=A66768]. Epithelial sheet on the external surface of the somite that gives rise to trunk, muscle and dermis.[TAO] Portion of somites that gives rise to dermis and muscles.[AAO] all but the sclerotome of a mesodermal somite; the primordium of skeletal muscle and, perhaps, of the dermis. Thus, representatives of the agnathan vertebrates, chondrichthyans, and sarcopterygians all have a layer of undifferentiated cells external to the embryonic myotome. In the amniotes, this external cell layer is the dermomyotome. The simplest interpretation of the similar position, morphology, and lack of myosin labeling is that a dermomyotome epithelium is a shared, ancestral vertebrate characteristic.[well established][VHOG] AAO:0010572 AEO:0000214 EHDAA2:0003259 EMAPA:31109 FMA:295654 TAO:0001513 UMLS:C1511786 VHOG:0000676 ZFA:0001513 uberon dermamyotome dermomyotomes UBERON:0004290 dermomyotome A cone-like structure that is formed when myocardial progenitor cells of the heart field fuse at the midline. The heart rudiment is the first structure of the heart tube. The migrating myocardial precursors of the heart rudiment form a cone like structure between 19.5hpf and 22hpf, and eventually telescope out into the primitive heart tube at 24hpf. Stainier 2001.[TAO] TAO:0000115 ZFA:0000115 heart cone rudimentary heart uberon UBERON:0004291 heart rudiment An endothelium that is part of a glomerular capillary. MA:0001658 NCIT:C32522 SCTID:243993006 UMLS:C0227647 renal glomerulus capillary endothelium uberon UBERON:0004294 glomerular capillary endothelium Distal-most phalanx within a digit. phalanx distalis terminal phalanx ungual phalanx phalanx distalis distal phalanx A phalanx located between proximal and distal phalanges. intermediate phalanx medial phalanx penultimate phalanx phalanx 2 phalanx II middle phalanx Proximal-most phalanx within a digit. phalanx 1 phalanx I proximal-most phalanx proximal phalanx A membranous sac that develops from the posterior part of the alimentary canal in the embryos of mammals, birds, and reptiles, and it is important in the formation of the umbilical cord and placenta in mammals[VHOG]. allantoic bud allantois The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP] The primitive streak is a structure that forms during the early stages of avian, reptilian and mammalian embryonic development[WP]. the midline ridge of the embryonic epiblast that later develops into mesoderm and endoderm[MP]. (...) the blastopore equivalent of chordates (germ ring in fish, marginal zone/blastopore lip in frog and node/primitive streak in chick and mouse) (...) (reference 1); Indeed, the primitive streak has been considered the homologue of the blastopore since the 1870s (reference 2).[well established][VHOG] VHOG includes a very broad grouping here based on http://www.ncbi.nlm.nih.gov/pubmed/9609826 EHDAA2:0001525 EHDAA:185 EMAPA:16072 FMA:293110 MESH:D054240 NCIT:C28402 SCTID:361438007 UMLS:C0033153 VHOG:0001202 Wikipedia:Primitive_streak primitive streak - blastopore - germ ring uberon UBERON:0004341 primitive streak http://upload.wikimedia.org/wikipedia/commons/f/f4/Gray13.png outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition trophectoderm An outgrowth on the lateral trunk of the embryo that develops into a limb. The limb bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. limb buds limbbud gemmae membrorum limb bud The embryonic structure that gives rise to the corneal ectoderm optic eminence multilayered ectodermal region at the distal tip of a limb or fin bud necessary for the proper development of the underlying mesenchyme[MP,modified]. Along with the zone of polarizing activity, it is a crucial organizing region during limb development[WP]. apical epidermal ridge AER crista ectodermalis apicalis apical ectodermal ridge An outgrowth on the lateral trunk of the embryo that develops into a limb or paired fin. The limb/fin bud is divided into ectoderm and mesenchyme[cjm, modified from MP]. limb - fin bud paired appendage bud paired limb/fin bud paired limb/fin bud The first of the series of pharyngeal arches that develop into jaw bones or their homologs, and their associated nerves and arteries 1st pharyngeal arch branchial arch 1 first branchial arch first pharyngeal arch first visceral arch mandibular arch visceral arch 1 1st arch 1st visceral arch arcus pharyngeus primus pharyngeal arch 1 One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP] One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP]. UBERON:0004342 AAO:0010414 EFO:0003695 EHDAA2:0000186 EHDAA:398 EHDAA:7327 EMAPA:16684 NCIT:C32123 TAO:0005004 VHOG:0000122 Wikipedia:Aortic_arches XAO:0000341 ZFA:0005004 PAA aortic arch aortic arches branchial aortic arches branchial arch artery embryonic aortic arch artery pharyngeal arch artery a. arcuum pharyngeorum aortic arch artery arteriae arcuum pharyngeorum branchial aortic arches pharyngeal arch arteries pharyngeal arch artery UBERON:0004363 pharyngeal arch artery A transparent homogeneous acellular layer, 6 to 9 um thick, lying between the basal lamina of the outer layer of stratified epithelium and the substantia propria of the cornea; it is considered to be a basement membrane. Bowman's anterior elastic lamina Bowman's layer Bowman's membrane anterior elastic lamina anterior limiting lamina anterior limiting lamina of cornea lamina limitans anterior (cornea) lamina limitans anterior corneae Reichert's membrane anterior limiting membrane anterior limiting lamina of cornea A bone that is part of an appendage [Automatically generated definition]. appendage bone bone of appendage bone of free segment of appendicular skeleton bone of free limb or fin The collection of all skeletal elements in an individual limb. free limb skeleton limb skeleton set of bones of limb skeleton of limb Sum of all sensory systems in an organism. sense organ system entire sense organ system A projection or outgrowth of tissue from a larger body or organ. anatomical process process processus projection flange flanges lamella lamellae lamina laminae organ process papilla process of organ processes projection projections ridge ridges shelf shelves anatomical protrusion protrusion spine anatomical projection Anatomical system that has as its parts the heart and blood vessels. we treat cardiovascular as part of circulatory system, with the latter including other kinds of circulation, including lymph. The vessels of the cardiovascular system are as varied as the diverse organs they supply. However, these variations are based on modifications of a fundamental plan of organization common to vertebrates.[well established][VHOG] AAO:0011001 BILA:0000016 BTO:0000088 CALOHA:TS-1297 EFO:0000791 EHDAA2:0000216 EHDAA:394 EMAPA:16104 EMAPA:16370 EV:0100017 FMA:7161 GAID:467 MA:0000010 MAT:0000016 MESH:D002319 MIAA:0000016 NCIT:C12686 OpenCyc:Mx4rvVjzG5wpEbGdrcN5Y29ycA SCTID:278198007 TAO:0000010 UMLS:C0007226 VHOG:0000302 WikipediaCategory:Cardiovascular_system XAO:0000100 XAO:0001010 ZFA:0000010 uberon CV system Herz und Gefaesssystem UBERON:0004535 cardiovascular system A vascular network consisting of blood vessels. TAO:0001079 ZFA:0001079 blood vascular network set of blood vessels uberon blood system blood vessel system blood vessels UBERON:0004537 blood vasculature https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_F_Blood_Vasculature.glb https://ccf-ontology.hubmapconsortium.org/objects/v1.2/VH_M_Blood_Vasculature.glb The part of the arterial system which carries oxygenated blood away from the heart to the body, and returns deoxygenated blood back to the heart. FMA:45623 Wikipedia:Systemic_circulation#Arteries systemic arterial circulatory system UBERON:0004571 systemic arterial system The part of the cardiovascular system consisting of all arteries. The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] BTO:0004690 EHDAA2:0000143 EHDAA:396 EMAPA:16201 EMAPA:16371 MA:0002719 SCTID:362030008 VHOG:0000273 uberon UBERON:0004572 arterial system An artery of the systemic circulation, which is the part of the cardiovascular system which carries oxygenated blood away from the heart, to the body, and returns deoxygenated blood back to the heart. FMA:66464 Wikipedia:Artery#Systemic_arteries systemic arterial subtree UBERON:0004573 systemic artery The part of the cardiovascular system consisting of all venous vessels. In vertebrates with a double circulation, this can be divided into systemic and pulmonary portions. The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] BTO:0004692 EHDAA2:0002171 EHDAA:486 EMAPA:16240 MA:0002720 NCIT:C33858 SCTID:362060003 UMLS:C1267406 VHOG:0000277 vein system uberon UBERON:0004582 venous system A structure, usually a circular muscle, that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. sphincter circular muscle sphincter muscle An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart An endothelium that lines the blood vasculature. Other endothelia may line lymph vessels, the heart. BTO:0000766 CALOHA:TS-2155 EMAPA:35176 MA:0000709 NCIT:C53395 TAO:0005257 UMLS:C1706972 ZFA:0005257 uberon UBERON:0004638 blood vessel endothelium The blood vessels that branch from the kidney interlobular artery, convey blood to the glomerular capillaries, and play an important role in the regulation of blood pressure as a part of the tubuloglomerular feedback mechanism. EMAPA:28230 EMAPA:28266 FMA:77042 MA:0002579 SCTID:67498004 TAO:0002139 Wikipedia:Afferent_arterioles ZFA:0005307 afferent arteriole afferent glomerular arteriole afferent glomerular arteriole of kidney arteriola glomerularis afferens renis kidney afferent arteriole uberon arteriola glomerularis afferens UBERON:0004639 renal afferent arteriole http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png The blood vessels that convey blood from the glomerulocapillary network to the capillary bed of the proximal convoluted tubule. EMAPA:28233 EMAPA:28275 FMA:77043 MA:0002585 SCTID:29926005 TAO:0002140 Wikipedia:Efferent_arteriole ZFA:0005308 arteriola glomerularis efferens renis efferent arteriole efferent glomerular arteriole efferent glomerular arteriole of kidney kidney efferent arteriole uberon arteriola glomerularis efferens capsulae renalis UBERON:0004640 renal efferent arteriole http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png The epithelial lining of the luminal space of the urinary bladder. urothelium bladder transitional cell epithelium transitional epithelium of urinary bladder urinary bladder transitional epithelium urothelium of urinary bladder epithelium of bladder transitional epithelium urinary bladder urothelium the polygonal structure of the liver that consists of hepatocytes radiating outward from a hepatic vein hepatic lobule lobuli hepatici lobulus hepaticus lobules of liver lobuli hepatis liver lobule An endothelium that is part of an arterial system [Automatically generated definition]. EMAPA:35145 MA:0000703 NCIT:C49329 UMLS:C1706849 uberon UBERON:0004700 arterial system endothelium A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. DrerDO:0000052 EFO:0001310 OGES:000006 Wikipedia:Pharyngula ZFS:0000050 phylotypic stage pharyngula UBERON:0004707 pharyngula stage An appendage that is part of an appendage girdle complex. girdle-associated appendage limb or fin limb/fin pectoral or pelvic appendage pelvic/pectoral appendage jointed paired lateral appendage paired appendage paired limb/fin The embryo and its adnexa (appendages or adjunct parts) or associated membranes (i.e. the products of conception) The conceptus includes all structures that develop from the zygote, both embryonic and extraembryonic. It includes the embryo as well as the embryonic part of the placenta and its associated membranes - amnion, chorion (gestational sac), and yolk sac[WP]. EHDAA2 places this as a subtype of organism. This leads to the inference that a conceptus is an embryo (if an embryo is defined as an organism at embryo stage), which eliminates the embryonic + extra-embryonic = conceptus AEO:0000194 BTO:0003834 EHDAA2:0000001 EHDAA2:0003235 EMAPA:36040 NCIT:C34131 UMLS:C1516779 Wikipedia:Conceptus embryo plus adnexa uberon UBERON:0004716 conceptus Any of the veins that parallel the arcuate arteries, receive blood from the interlobular veins and straight venules, and terminate in the interlobar veins. arcuate vein EMAPA:28221 FMA:272193 FMA:321527 MA:0002593 Wikipedia:Arcuate_vein arciform vein of kidney arcuate vein of kidney renal arcuate vein venae arcuatae renis uberon arcuate veins UBERON:0004719 kidney arcuate vein https://upload.wikimedia.org/wikipedia/commons/7/7e/Kidney_PioM.png The branches of the arcuate arteries of the kidney that radiate outward throught the renal columns and supply the glomeruli[MP]. The first set of renal bloodvessels, the interlobular arteries (or cortical radiate arteries, or cortical radial arteries), are given off at right angles from the side of the arcuate arteries looking toward the cortical substance, and pass directly outward between the medullary rays to reach the fibrous tunic, where they end in the capillary network of this part. These vessels do not anastomose with each other, but form what are called end-arteries. In their outward course they give off lateral branches; these are the afferent vessels for the renal corpuscles; they enter the capsule, and end in the glomerulus. From each tuft the corresponding efferent vessel arises, and, having made its egress from the capsule near to the point where the afferent vessel enters, breaks up into a number of branches, which form a dense plexus within Bowman's capsule. EMAPA:28212 FMA:70498 MA:0002584 NCIT:C32826 SCTID:76147008 UMLS:C1512856 Wikipedia:Interlobular_arteries interlobular renal artery kidney interlobular artery uberon arteriae corticales radiatae arteriae interlobulares renis cortical radial arteries interlobular renal interlobular artery UBERON:0004723 interlobular artery http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png In the blood supply of the kidney, the vasa recta renis (or straight arteries of kidney, or straight arterioles of kidney) form a series of straight capillaries in the medulla. They lie parallel to the loop of Henle. These vessels branch off the efferent arterioles of juxtamedullary nephrons (those nephrons closest to the medulla), enter the medulla, and surround the loop of Henle. TODO - is this a vein or set of veins? in MA it is a venous blood vessel EMAPA:30043 FMA:72006 MA:0002595 Wikipedia:Vasa_recta galen:ArteriaeRectae arteriolae rectae renis kidney vasa recta renal medullary capillary set of straight arterioles of kidney straight arterioles of kidney vasa recta of kidney vasa recta renis uberon arteria recta arteriae rectae arteriolae rectae renis arteriolae recti vasa rectae UBERON:0004726 vasa recta https://upload.wikimedia.org/wikipedia/commons/2/21/Kidney_nephron.png Any segmental subdivision of a nervous system. Includes metameric developmental segments, such as vertebrates neuromeres. neuromere segmental subdivision of nervous system An organ subunit that is part of a hindbrain [Automatically generated definition]. hindbrain segment segment of hindbrain segmental subdivision of hindbrain Organism at the gastrula stage. We explicitly merge the NCITA terms here UBERON:0007012 BILA:0000060 BTO:0001403 FBbt:00005317 FMA:293108 GAID:1302 MESH:A16.254.412 MESH:D005775 MIAA:0000179 NCIT:C34057 NCIT:C34058 UMLS:C0017199 UMLS:C1284022 Wikipedia:Gastrula Wikipedia:Trilaminar_blastocyst gastrula embryo uberon blastocystis trilaminaris tri-laminar disc tri-laminar disk trilaminar blastocyst trilaminar blastoderm trilaminar disc trilaminar disk trilaminar germ UBERON:0004734 gastrula A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO] A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO]. A specialized form of connective tissue in which the extracellular matrix is firm, providing the tissue with resilience, and/or mineralized and that functions in mechanical and structural support.[VSAO] EMAPA:37744 MA:0003047 SCTID:309311006 VSAO:0000015 XAO:0004038 ZFA:0005619 uberon UBERON:0004755 Four classes of mineralized tissues are found in vertebrates: bone, cartilage, dentine, and enamel. We think of cartilage and bone as skeletal tissues and of enamel and dentine as dental tissues, but enamel and dentine arose evolutionarily together with bone as skeletal tissues in the dermal skeleton (exoskeleton) of early vertebrates. Scales and teeth of sharks are examples of dermal skeletal elements that are still composed of the three ancient components-enamel, dentine, and bone. Cartilage, on the other hand, provided the basis for the second vertebrate skeletal system, the endoskeleton (Smith and Hall, 1990; Hall, 1998a,b). some invertebrate skeletal tissues have surprisingly bone-like features. Examples include chondrocytes interconnected by cell processes in cephalopod cartilages (Cole and Hall, 2004a,b), and the calcium phosphate layer in the shells of brachiopods (Rodland et al., 2003). However, neither bone nor mineralized cartilage have been found in invertebrates. Editors notes: TODO - develops_from skeletal tissue Organ consisting of skeletal tissue. Encompasses whole bones, fused bones, cartilaginious elements, teeth, dermal denticles. Organ entity that is typically involved in mechanical support and may have different skeletal tissue compositions at different stages.[VSAO] Organ entity that may have different tissue compositions at different stages and is typically involved in mechanical support.[TAO] AAO:0011129 TAO:0001890 VSAO:0000128 XAO:0004012 ZFA:0005494 galen:SkeletalStructure uberon UBERON:0004765 skeletal element Anatomical system that consists of all the joints of the body. EMAPA:35150 FMA:23878 MA:0003007 SCTID:361827000 VSAO:0000181 joint system set of all joints of body uberon set of all joints set of joints of body UBERON:0004770 articular system A vasa recta that is part of a outer medulla of kidney [Automatically generated definition]. EMAPA:36560 MA:0002597 kidney outer medulla vasa recta kidney outer renal medulla vasa recta outer medulla of kidney vasa recta outer zone of medulla of kidney vasa recta outer zone of renal medulla vasa recta vasa recta of outer medulla of kidney vasa recta of outer renal medulla vasa recta of outer zone of medulla of kidney vasa recta of outer zone of renal medulla uberon UBERON:0004775 outer renal medulla vasa recta A vasa recta that is part of a inner medulla of kidney [Automatically generated definition]. EMAPA:36559 MA:0002596 inner medulla of kidney vasa recta inner zone of medulla of kidney vasa recta inner zone of renal medulla vasa recta set of inner region of renal pyramids vasa recta vasa recta of inner medulla of kidney vasa recta of inner renal medulla vasa recta of inner zone of medulla of kidney vasa recta of inner zone of renal medulla vasa recta of set of inner region of renal pyramids uberon UBERON:0004776 inner renal medulla vasa recta A mucosa that is part of a gastrointestinal system. digestive tract mucosa gut mucosa gut mucuous membrane mucosa of gut gastrointestinal system mucosa The epithelial lining of the luminal space of the kidney pelvis. EMAPA:28077 FMA:263264 MA:0002632 NCIT:C54556 UMLS:C1709899 kidney pelvis transitional epithelium kidney pelvis uroepithelium pelvis of ureter uroepithelium pelvis of ureter urothelium renal pelvis transitional epithelium renal pelvis uroepithelium renal pelvis urothelium transitional epithelium of kidney pelvis transitional epithelium of renal pelvis uroepithelium of kidney pelvis uroepithelium of pelvis of ureter uroepithelium of renal pelvis urothelium of kidney pelvis urothelium of pelvis of ureter urothelium of renal pelvis uberon pelvic urothelium UBERON:0004788 kidney pelvis urothelium Any of the tissue layers that comprise a blood vessel. Examples: tunica media, tunica adventitia. blood vessel layer An epithelium that is part of a uterine cervix [Automatically generated definition]. cervical canal epithelial tissue cervical canal epithelium cervical epithelium cervix epithelial tissue epithelium of cervix cervix epithelium An epithelium that is part of a oviduct [Automatically generated definition]. epithelial tissue of oviduct epithelium of fallopian tube epithelium of oviduct epithelium of uterine tube oviduct epithelial tissue columnar epithelium of the fallopian tube columnar epithelium of the oviduct fallopian tube epithelium oviduct epithelium An epithelium that is part of a respiratory system [Automatically generated definition]. CALOHA:TS-0023 EMAPA:32826 MA:0001823 VHOG:0000981 apparatus respiratorius epithelial tissue apparatus respiratorius epithelium epithelial tissue of apparatus respiratorius epithelial tissue of respiratory system epithelium of apparatus respiratorius epithelium of respiratory system respiratory system epithelial tissue uberon UBERON:0004807 respiratory system epithelium An epithelium that is part of a digestive system [Automatically generated definition]. digestive system epithelial tissue digestive system epithelium epithelial tissue of digestive system epithelial tissue of gastrointestinal system epithelium of digestive system epithelium of gastrointestinal system gastrointestinal system epithelial tissue gastrointestinal system epithelium The cellular avascular layer of the renal tubule luminar surfaces. the cellular avascular layer of the renal tubule luminar surfaces See https://github.com/obophenotype/uberon/issues/1305 BTO:0005239 EMAPA:36524 MA:0001681 NCIT:C49276 UMLS:C1709902 kidney tubule epithelium uberon UBERON:0004810 nephron tubule epithelium The cellular avascular layer of the kidney luminar surfaces. the cellular avascular layer of the kidney luminar surfaces BTO:0000059 CALOHA:TS-0505 EMAPA:35457 MA:0002846 epithelial tissue of kidney epithelium of kidney kidney epithelial tissue uberon renal epithelium UBERON:0004819 kidney epithelium An endothelium that is part of the cardiovascular system. consider merging with 'endothelium' Vertebrates and a very few invertebrates such as squids have evolved a secondary epithelium, the endothelium, that lines their blood vessels.[well established][VHOG] BTO:0001853 EMAPA:35201 GAID:519 MA:0000717 MESH:D004730 NCIT:C13053 TAO:0002171 UMLS:C0014261 VHOG:0001217 XAO:0000356 ZFA:0001639 uberon endothelia vascular endothelia UBERON:0004852 cardiovascular system endothelium A vasculature that is part of a retina [Automatically generated definition]. retina vasculature retina vasculature of camera-type eye retinal blood vessels retinal blood vessels set retinal vasculature set of blood vessels of retina set of retinal blood vessels vasa sanguinea retinae vasculature of retina Layer of lateral plate mesoderm that forms the future body wall - underlies the ectoderm[WP]. outer layer of lateral plate mesoderm parietal mesoderm somatic mesoderm somatic layer of lateral plate mesoderm Layer of lateral plate mesoderm that forms the circulatory system and future gut wall - overlies endoderm[WP]. We group the BILA class here. Considering adding more general class for metazoa grouping cardiogenic successors visceral mesoderm AAO:0011102 BILA:0000044 FMA:295568 Wikipedia:Lateral_plate_mesoderm#Division_into_layers XAO:0000276 inner layer of lateral plate mesoderm uberon splanchnic mesoderm UBERON:0004872 splanchnic layer of lateral plate mesoderm A structure created during embryogenesis when the lateral mesoderm splits into two layers - the outer (or somatic) layer becomes applied to the inner surface of the ectoderm, and with it forms the somatopleure.[WP]. Gives rise to the paired appendages in jawed vertebrates. a persistent somatopleure through the redistribution and expansion of the lateral plate mesoderm is a synapomorphy for gnathostomes and a critical step in generating a novel developmental module with dramatic evolutionary potentia (Tulenko et al. 2012) http://burkelab.research.wesleyan.edu/current-projects/lamprey/ sources differ as to whether this is part-of or develops-from the LPM EHDAA2:0001847 EHDAA:381 EMAPA:16180 FMA:295566 NCIT:C34301 UMLS:C1519423 VHOG:0000557 Wikipedia:Somatopleure uberon UBERON:0004874 somatopleure http://upload.wikimedia.org/wikipedia/commons/2/28/Gray16.png A portion of the urogenital ridge which is the source of much of the urinary system[WP]. FMA:72168 NCIT:C34219 SCTID:361405003 UMLS:C1283944 Wikipedia:Nephrogenic_cord uberon chorda nephrogenica UBERON:0004875 part_of or develops_from urogenital ridge? nephrogenic cord One of of the pair of folds derived from the cloacal folds which give rise to a portion of the external genitalia; in male embryos they close over the urethral plate and fuse to form the spongy (penile) urethra and ventral aspect of the penis, not including the glans; failure of fusion of the urethral folds leads to hypospadias; in female embryos they fuse only anterior to the anus and form the labia minora[MP]. Less commonly, urogenital fold refers to the fold in the mesonephros which is the precursor of e.g. the suspensory ligament of the ovary. This is the case in older versions of Gray's anatomy[WP] EHDAA2:0004022 EMAPA:30888 FMA:321919 Wikipedia:Urogenital_folds urethral fold urogenital fold uberon urogenital ridge UBERON:0004876 urogenital fold The central region of trunk mesoderm. This tissue forms the notochord The central region of trunk mesoderm. This tissue forms the notochord. Notochord rudiment[ZFIN:ZDB-PUB-961014-576]. WP treats this as synonym of axial mesoderm. Induces neural tube. Gilbert: contains an anterior head process and the notochord. AAO:0000478 EFO:0003426 TAO:0000091 ZFA:0000091 axial chorda mesoderm chorda mesoderm dorsal mesoderm presumptive notochord uberon UBERON:0004880 chordamesoderm Anatomical cluster that connects two or more adjacent skeletal elements or hardened body parts. Anatomical structure that connects two or more adjacent skeletal elements or hardened body parts. FBbt:00005811 joint uberon UBERON:0004905 articulation The region of the digestive tract extending from the mouth cavity through pharynx esophagus stomach and duodenum. upper GI tract upper gastrointestinal tract upper digestive tract hepatic diverticulum biliary bud A dilation of the duodenal papilla that is the opening of the juncture of the common bile duct and the main pancreatic duct. Vater's ampulla ampulla biliaropancreatica ampulla of Vater ampulla of bile duct biliaropancreatic ampulla papilla Vateri ampulla Vaterii ampulla hepatopancreatica papilla duodeni major hepatopancreatic ampulla One of the two small elevations on the mucosa of the duodenum, the major at the entrance of the conjoined pancreatic and common bile ducts and the minor at the entrance of the accessory pancreatic duct. papilla duodenalis papilla of duodenum papilla duodeni duodenal papilla A proximal-distal subdivision of the digestive tract. intended to denote both embryonic and adult structures. Note the FMA grouping here is not quite correct. FBbt:00100315 FMA:71131 uberon alimentary system subdivision gut section intestinal tract segment of intestinal tract subdivision of alimentary system UBERON:0004921 subdivision of digestive tract A part of a wall of an organ that forms a layer. FMA:82485 uberon UBERON:0004923 organ component layer A mucosa that is part of a pylorus [Automatically generated definition]. mucosa of organ of pyloric part of stomach mucosa of organ of pylorus mucosa of organ of stomach pyloric region mucosa of pyloric part of stomach mucosa of stomach pyloric region mucous membrane of pyloric part of stomach mucous membrane of pylorus mucous membrane of stomach pyloric region organ mucosa of pyloric part of stomach organ mucosa of pylorus organ mucosa of stomach pyloric region pyloric part of stomach mucosa pyloric part of stomach mucosa of organ pyloric part of stomach mucous membrane pyloric part of stomach organ mucosa pylorus mucosa pylorus mucosa of organ pylorus mucous membrane pylorus organ mucosa stomach pyloric region mucosa stomach pyloric region mucosa of organ stomach pyloric region mucous membrane stomach pyloric region organ mucosa antropyloric mucosa mucosa of pylorus An organ that is part of a immune system [Automatically generated definition]. immune system organ uberon UBERON:0005057 immune organ A gland that is part of a hemolymphoid system [Automatically generated definition]. hemopoietic or lymphoid organ EMAPA:18766 MA:0002962 hemopoietic or lymphoid gland uberon haemolymphoid system gland UBERON:0005058 hemolymphoid system gland The median dorsal longitudinal groove formed in the embryo by the neural plate after the appearance of the neural folds. The neural groove is a shallow median groove between the neural folds of an embryo. The neural folds are two longitudinal ridges that are caused by a folding up of the ectoderm in front of the primitive streak of the developing embryo. The groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or canal, the ectodermal wall of which forms the rudiment of the nervous system. After the coalescence of the neural folds over the anterior end of the primitive streak, the blastopore no longer opens on the surface but into the closed canal of the neural tube, and thus a transitory communication, the neurenteric canal, is established between the neural tube and the primitive digestive tube. The coalescence of the neural folds occurs first in the region of the hind-brain, and from there extends forward and backward; toward the end of the third week the front opening (anterior neuropore) of the tube finally closes at the anterior end of the future brain, and forms a recess which is in contact, for a time, with the overlying ectoderm; the hinder part of the neural groove presents for a time a rhomboidal shape, and to this expanded portion the term sinus rhomboidalis has been applied. Before the neural groove is closed a ridge of ectodermal cells appears along the prominent margin of each neural fold; this is termed the neural crest or ganglion ridge, and from it the spinal and cranial nerve ganglia and the ganglia of the sympathetic nervous system are developed. By the upward growth of the mesoderm the neural tube is ultimately separated from the overlying ectoderm. The cephalic end of the neural groove exhibits several dilatations, which, when the tube is closed, assume the form of three vesicles; these constitute the three primary cerebral vesicles, and correspond respectively to the future fore-brain (prosencephalon), mid-brain (mesencephalon), and hind-brain (rhombencephalon). The walls of the vesicles are developed into the nervous tissue and neuroglia of the brain, and their cavities are modified to form its ventricles. The remainder of the tube forms the medulla spinalis or spinal cord; from its ectodermal wall the nervous and neuroglial elements of the medulla spinalis are developed while the cavity persists as the central canal[Wikipedia:Neural_groove]. AAO:0011071 EMAPA:35594 FMA:295624 NCIT:C34224 SCTID:361463007 UMLS:C0814992 Wikipedia:Neural_groove XAO:0000248 neuronames:1363 uberon UBERON:0005061 neural groove One of the two elevated edges of the neural groove[GO,MP]. In front of the primitive streak two longitudinal ridges, caused by a folding up of the ectoderm, make their appearance, one on either side of the middle line. These are named the neural folds; they commence some little distance behind the anterior end of the embryonic disk, where they are continuous with each other, and from there gradually extend backward, one on either side of the anterior end of the primitive streak. Also, after differentiation it turns into the neural tubes[Wikipedia:Neural_fold]. EHDAA2:0001249 EMAPA:16142 EMAPA:16146 EMAPA:16151 EMAPA:16155 EMAPA:16159 EMAPA:16162 EMAPA:16288 EMAPA:16292 EMAPA:16295 EMAPA:16299 EMAPA:16303 EMAPA:16307 EMAPA:16528 FMA:295618 NCIT:C34223 SCTID:361461009 UMLS:C0814993 Wikipedia:Neural_fold XAO:0004087 neuronames:1364 medullary fold uberon UBERON:0005062 neural fold A solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube. Kimmel et al, 1995.[TAO] EFO:0003498 TAO:0000133 ZFA:0000133 uberon neural tube rod UBERON:0005068 neural rod The portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros[GO]. uberon UBERON:0005080 metanephric ureteric bud The portion of the ureteric bud that contributes to the morphogenesis of the ureter. The ureter ureteric bud is the initial structure that forms the ureter[GO]. uberon UBERON:0005081 ureter ureteric bud An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm[GO] epithelial placode ectodermal placode A bud-like thickening in the epidermis consisting of elongated keratinocytes, which at the distal end are in touch with numerous aggregated specialized dermal fibroblasts, the dermal condensate. hair placode vibrissa placode hair gem hair germ hair peg hair follicle placode An tooth placode is a thickening of the ectoderm that will give rise to the tooth bud[GO]. dental anlage dental placode dental primordium odontogenic placode tooth anlage tooth primordium tooth germ tooth placode A sebaceous gland placode is a thickening of the ectoderm that will give rise to the sebaceous gland bud[GO]. sebaceous gland placode Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms[GO]. in some organisms such as drosophila, muscles can be single cells. This class groups together all discrete muscle elements, from multicellular muscle organs in vertebrates, to individual single-cell muscles in drisophila EMAPA:32715 FBbt:00005073 FMA:30316 musculus uberon muscle muscle element UBERON:0005090 muscle structure . Missing definition for term UBERON:0005095. Please replace it using linked reference. class added for consistency with GO - consider merging with kidney mesenchyme. uberon kidney anlage UBERON:0005095 kidney rudiment The descending thin limb is a part of the loop of Henle situated just after the proximal straight tubule (S3). It extends to the tip of the loop of Henle[GO]. UBERON:0005165 EMAPA:35514 FMA:17719 MA:0002625 Wikipedia:Descending_limb_of_loop_of_Henle descending thin limb of loop of Henle loop of Henle descending thin limb loop of Henle thin descending limb pars descendens (tubulus attenuatus) thin descending limb uberon descending limb of Henle's loop descending limb of loop of Henle thin descending limb of loop of Henle thin descending limb of the loop of Henle thin descending loop of Henle UBERON:0005096 descending thin limb https://github.com/obophenotype/uberon/issues/2276 http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png The connecting tubule is a tubular segment of the nephron; it connects the distal convoluted tubule to the collecting duct[GO]. BTO:0004539 EMAPA:27758 EMAPA:27790 EMAPA:28011 MA:0002610 Wikipedia:Connecting_tubule connecting tubule kidney connecting tubule uberon tubulus renalis arcuatus UBERON:0005097 renal connecting tubule http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png The short descending thin limb is the descending thin limb of a short nephron that has a squamous epithelial morphology[GO]. TODO - epithelium types uberon UBERON:0005099 short descending thin limb The long descending limb starts in the inner stripe of the outer medulla and extends into the inner medulla[GO]. uberon UBERON:0005100 long descending thin limb The early distal convoluted tubule contains DCT cells and is vasopressin-insensitive[GO]. EMAPA:28393 uberon UBERON:0005101 early distal convoluted tubule The late distal convoluted tubule contains DCT cells and intercalated (IC) alpha and beta cells and is vasopressin-sensitive[GO]. TODO - CL EMAPA:28393 uberon UBERON:0005102 late distal convoluted tubule An epithelium that is part of a mesonephros [Automatically generated definition]. uberon UBERON:0005103 mesonephric epithelium A metanephric tubule is an epithelial tube that is part of the metanephros[GO]. The ureteric diverticulum grows dorsally into the posterior region of the nephric ridge. Here it enlarges and stimulates the growth of metanephric tubules that come to make up the metanephric kidney. The metanephros becomes the adult kidney of amniotes.[well established][VHOG] VHOG:0001526 uberon UBERON:0005106 metanephric tubule An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure[GO]. uberon UBERON:0005108 metanephric epithelium A metanephric nephron is the functional unit of the metanephros[GO]. The primitive form of the vertebrate nephron consists of a vascular filtration surface overlain with podocytes, a specialized coelomic cavity to receive the ultrafiltrate, and a tubule for modification to final urine. Although previously thought to be unique to the vertebrates, this design is now known to be widespread among invertebrates, including most of the protochordates, and especially their larvae.[well established][VHOG] UBERON:0005142 VHOG:0000719 uberon UBERON:0005110 metanephric nephron EHDAA2:0001140 uberon UBERON:0005113 metanephric cortex mesenchyme The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros[GO]. uberon UBERON:0005134 metanephric nephron epithelium A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros[GO]. UBERON:0005128 UBERON:0005152 uberon UBERON:0005146 metanephric nephron tubule A bud is a protrusion that forms from an epithelial sheet by localized folding. epithelial bud Any anatomical structure that is part of the reproductive system. reproductive system element reproductive system structure uberon UBERON:0005156 reproductive structure An epithelial sheet bent on a linear axis. uberon UBERON:0005157 epithelial fold A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part. we go with the FMA classification rather than the CARO one. FMA def: 'Anatomical cluster which has as direct parts cell parts from two or more cells.' AAO:0011000 CARO:0001000 FBbt:00007060 FMA:83115 multi-cell-component structure multi-cell-part structure uberon cell part cluster UBERON:0005162 multi cell part structure The distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium[MP]. TODO - thick/thin check. Also relationship to distal tubule. We need a home for MA:0002634-renal straight tubule ascending limb EMAPA:35510 FMA:17717 MA:0001676 NCIT:C32154 SCTID:245434005 UMLS:C0227658 Wikipedia:Ascending_limb_of_loop_of_Henle ascending limb of Henle's loop loop of Henle ascending limb uberon distal straight tubule UBERON:0005164 ascending limb of loop of Henle The terminal portions of the medullary collecting ducts are the papillary ducts, which end at the renal papilla and empty into a minor calyx. BTO:0004540 EMAPA:35655 MA:0001646 SCTID:110623009 Wikipedia:Duct_of_Bellini papillary duct papillary duct of kidney renal papillary duct uberon Bellini's duct duct of Bellini UBERON:0005167 papillary duct Any of the veins that parallel the interlobular arteries, receiving blood from the peritubular capillary plexus and empty into the arcuate veins. EMAPA:28218 FMA:71634 MA:0002594 Wikipedia:Interlobular_veins interlobular vein venae interlobulares renis uberon interlobular veins of kidney set of interlobular veins of kidney venae interlobulares renis UBERON:0005168 renal interlobular vein http://upload.wikimedia.org/wikipedia/commons/0/02/Gray1128.png Connective tissue between the cellular elements of a structure. specify differentia from stroma interstital FMA:86301 SCTID:85293002 interstitium uberon UBERON:0005169 interstitial tissue Any portion of the ducts that carry bile from the liver to the common bile duct. This may include both intrahapetic components (parts of left and right hepatic ducts) and extrahapetic components (common hepatic duct, plus hilar portion). hepatic duct An organ or element that is in the abdomen. Examples: spleen, intestine, kidney, abdominal mammary gland. MA:0000522 SCTID:272631008 abdomen organ uberon UBERON:0005172 abdomen element An organ or element that is part of the adbominal segment of the organism. This region can be further subdivided into the abdominal cavity and the pelvic region. EMAPA:37062 MA:0000529 abdominal segment organ uberon UBERON:0005173 abdominal segment element An organ or element that part of the dorsum of the organism. Examples: spinal cord, vertebrae, muscles of back. back organ dorsal region organ dorsal region element A circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth. dental organ enamel organ odontogenic organ organum enameleum tooth enamel organ An organ or element that part of the trunk region. The trunk region can be further subdividied into thoracic (including chest and thoracic cavity) and abdominal (including abdomen and pelbis) regions. EMAPA:37270 MA:0000516 trunk organ uberon UBERON:0005177 trunk region element An organ or element that is in the thoracic cavity. Examples: lung, heart, longus colli. EMAPA:37273 MA:0000557 thoracic cavity organ uberon UBERON:0005178 thoracic cavity element An organ or element that is part of the pelvic region. Examples: reproductive organs (in some organisms), urinary bladder, bones of the pelvis. EMAPA:37275 MA:0000543 pelvic element pelvis organ pelvis region organ uberon UBERON:0005179 pelvic region element An organ that part of the thoracic segment region. This region can be further subdividied chest and thoracic cavity regions. EMAPA:37271 MA:0000563 uberon upper body organ UBERON:0005181 thoracic segment organ The portion of the collecting duct that resides in the renal medulla. BTO:0004536 EMAPA:28061 EMAPA:35459 MA:0002935 kidney medulla collecting duct medullary collecting duct uberon UBERON:0005185 renal medulla collecting duct Tissue surrounding the loop of Henle in the renal medulla. It functions in renal water reabsorption by building up a high hypertonicity, which draws water out of the thin descending limb of the loop of Henle and the collecting duct system. This hypertonicity, in turn, is created by an efflux of urea from the inner medullary collecting duct. EMAPA:18326 MA:0002619 SCTID:245693005 Wikipedia:Bone_marrow_of_ovaryry_interstitium kidney medulla interstitium renal medullary interstitial tissue renal medullary interstitium medullary interstitium uberon medullary stroma UBERON:0005211 renal medulla interstitium A portion of interstitial tissue that is part of a outer medulla of kidney [Automatically generated definition]. EMAPA:28337 MA:0002621 kidney outer medulla interstitium outer medullary interstitium uberon UBERON:0005213 outer renal medulla interstitium A portion of interstitial tissue that is part of a inner medulla of kidney [Automatically generated definition]. EMAPA:28364 MA:0002620 inner medullary interstitium kidney inner medulla interstitium uberon papillary interstitium UBERON:0005214 inner renal medulla interstitium The interstitial compartment of the kidney, comprising the extravascular intertubular spaces of the renal parenchyma, with their attendant cellular elements and extracellular substances, bounded on all sides by epithelial and vascular basement membranes. See https://sourceforge.net/p/geneontology/ontology-requests/10941/ The interstitium is necessarily involved in all intrarenal exchange processes since the reabsorption and secretion of fluid and solutes implicates a transit across the interstitial compartment. The fibroblasts in the interstitium provide the 'skeleton' of the tissue and maintain the three-dimensional architecture of the tissue. EMAPA:28518 FMA:70983 MA:0002616 NCIT:C33459 SCTID:362210003 interstitial tissue of kidney renal interstitial tissue renal interstitium renal stroma stroma of kidney uberon kidney interstitium group UBERON:0005215 kidney interstitium Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. cephalic mesenchyme cranial mesenchyme desmocranium head mesenchyme Mesenchyme that is part of a developing trunk. EFO:0003485 EHDAA2:0002092 EHDAA:377 EMAPA:16177 TAO:0000081 VHOG:0000281 ZFA:0000081 uberon trunk and cervical mesenchyme UBERON:0005256 trunk mesenchyme An artery that supplies the renal cortex. EMAPA:28147 MA:0002582 kidney cortex artery renal cortex artery uberon renal cortex arterial system UBERON:0005268 renal cortex artery Artery that receives blood from the renal cortex[MP, modified]. EMAPA:28152 MA:0002592 uberon kidney cortex vein renal cortex venous system UBERON:0005269 renal cortex vein A compartment of the renal cortex situated between basement membranes of epithelia and vessels that contains two contiguous cellular networks in mutual contact, one formed by interstitial fibroblasts, the other by dendritic cells. In the renal cortex, interstitial fibroblasts produce erythropoietin and are distinguished from other interstitial cells by their prominent F-actin cytoskeleton, abundance of rough endoplasmic reticulum, and by ecto-5'-nucleotidase expression in their plasma membrane. The resident dendritic cells belong to the mononuclear phagocyte system and fulfil a sentinel function. They are characterized by their expression of MHC class II and CD11c. EMAPA:28136 MA:0002608 SCTID:243707006 Wikipedia:Medullary_interstitium kidney cortex interstitium renal cortical interstitial tissue uberon cortical stroma UBERON:0005270 renal cortex interstitium The part of the renal cortex nearest to the medulla. EMAPA:37623 FMA:74288 KUPO:0001008 MA:0001648 inner cortex of kidney inner renal cortex juxtamedullary cortex of kidney uberon UBERON:0005271 juxtamedullary cortex The tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure. EMAPA:36558 MA:0002588 Wikipedia:Peritubular_capillaries uberon UBERON:0005272 peritubular capillary The posterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain composed of the medulla oblongata and a portion of the fourth ventricle; as well as the glossopharyngeal nerve (CN IX), vagus nerve (CN X), accessory nerve (CN XI), hypoglossal nerve (CN XII), and a portion of the vestibulocochlear nerve (CN VIII).[BTO,WP]. myelencephalon (medulla oblongata) myelencephalon A portion of tissue that is part of an embryo. CALOHA:TS-2100 portion of embryonic tissue uberon developing tissue UBERON:0005291 embryonic tissue Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. extra-embryonic tissue extraembryonic tissue A pronephric nephron is the functional unit of the pronephros[GO]. The structure that is the basic functional unit of the pronephros.[AAO] AAO:0011091 XAO:0000285 uberon UBERON:0005309 pronephric nephron The pronephric nephron tubule is an epithelial tube that is part of the pronephric nephron and connects the filtration unit (glomerulus or glomus) of the pronephros to the pronephric duct[GO]. Bilaterally paired tubes connecting the pronephric glomeruli to the pronephric ducts. In zebrafish and other teleosts, the pronephric nephron and tubules form after the pronephric duct, connecting to the anterior-most tip of the pronephric ducts. Drummond, 2000.[TAO] TAO:0001558 XAO:0004105 ZFA:0001558 pronephric tubule uberon ciliated neck segment UBERON:0005310 pronephric nephron tubule The endothelial lining of the endocardium. endocardium endothelium endothelium of endocardium endocardial endothelium A nephron that is part of a mesonephros. The structure that is the basic functional unit of the kidney.[AAO] AAO:0010387 XAO:0000292 ZFA:0005592 nephron of mesonephros uberon stage IV nephron UBERON:0005322 mesonephric nephron Mesonephric mesenchyme is the tissue made up of loosely connected mesenchymal cells in the mesonephros[GO]. AAO:0011062 EHDAA2:0001132 EMAPA:16745 XAO:0000291 uberon UBERON:0005323 mesonephric mesenchyme A mesonephric nephron tubule is an epithelial tube that is part of the mesonephric nephron, the functional part of the mesonephros[GO]. mesonephric renal tubule uberon UBERON:0005329 mesonephric nephron tubule The mesonephric nephron epithelium is a tissue that covers the surface of a nephron in the mesonephros[GO]. uberon UBERON:0005330 mesonephric nephron epithelium A ventricular outflow tract is a portion of either the left ventricle or right ventricle of the heart through which blood passes in order to enter the great arteries. The right ventricular outflow tract (RVOT) is an infundibular extension of the ventricular cavity which connects to the pulmonary artery. The left ventricular outflow tract (LVOT), which connects to the aorta, is nearly indistinguishable from the rest of the ventricle[WP]. heart ventricle outflow tract outflow part of ventricle ventricular outflow tract outflow tract of ventricle An outflow tract that is part of a aorta. EHDAA2:0001353 EMAPA:17329 MA:0000101 VHOG:0001394 UBERON:0005338 outflow tract aortic component outflow tract pulmonary component An array of photoreceptors and any supporting cells found in an eye. light-sensitive tissue photoreceptor array A transparent structure that is part of a visual sense organ, the function of which is to direct or focus light onto a photoreceptor array. lens transparent eye structure The adipose capsule of kidney (or perinephric fat or perirenal fat) is a structure between the renal fascia and renal capsule, and may be regarded as a part of the latter. A different structure, the pararenal fat, is the adipose tissue superficial to the renal fascia. perirenal fascia adipose capsule of kidney capsula adiposa renis fatty capsule of kidney perinephric fat periphrenic fascia perirenal fascia perirenal fat capsule perirenal fat pad perirenal fat Any of any of the secretory or sensory organs located in the brain region around or in relation to the ventricular system that are characterized by extensive vasculature and a lack of a normal blood brain barrier (BBB) and allow for the linkage between the central nervous system and peripheral blood flow. CVO circumventricular organ circumventricular organ of neuraxis circumventricular organ The part of the digestive system that excludes the hepatobiliary system. the decision to split digestive and gastrointestinal in this way may be revisited. As it currently stands, this class more closely aligns what MA calls the alimentary system The system that includes the esophagus, stomach, small and large intestine, anus, liver, biliary tract, and pancreas[ncithesaurus:Gastrointestinal_System]. All metazoans (with degenerate exceptions) have some sort of digestive cavity with a means of entrance to and exit from it.[well established][VHOG] that many anatomy ontologies consider this synonymous with digestive system. here we follow MA in dividing digestive system into gastrointestinal and hepatobiliary. hepatobiliary includes the liver and biliary tract. species-specific AO classes are categorized according to whether liver is included. For example, XAO includes liver as part of XAO:0000125 alimentary system, so we assume this class is the more generic class. We have one entity that is part of both gastrointestinal and hepatobiliary systems: hepatopancreatic ampulla. BTO:0000058 CALOHA:TS-0407 EHDAA2:0000110 EHDAA:514 EMAPA:16246 EV:0100056 FMA:71132 GAID:294 MA:0000323 MESH:D041981 NCIT:C12378 SCTID:373871007 UMLS:C0012240 VHOG:0000412 galen:GastrointestinalTract uberon GI tract alimentary system alimentary tract gastro-intestinal system gastroenterological system gastrointestinal (GI) tract gastrointestinal system gastrointestinal tract UBERON:0005409 alimentary part of gastrointestinal system AEO:0000125 CALOHA:TS-2122 EHDAA2:0003125 FBbt:00007006 FMA:292313 MIAA:0000019 uberon developing structure developmental structure developmental tissue UBERON:0005423 developing anatomical structure Portion of tissue that is the inner layer of the optic cup and will become the neural retina. future neural retina future retinal neural layer inner layer optic cup optic cup inner layer presumptive retinas future NR future neural epithelium future neural layer presumptive retina presumptive neural retina Portion of tissue that gives rise to the lens. hollow lens vesicle solid lens vesicle immature lens lens mass presumptive lens lens vesicle Portion of tissue that is part of the eye and gives rise to the mature, fully layered cornea. corneal primordium Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives[ZFA]. Vagal neural crest is adjacent to the first seven somites gives rise to both ganglionic and ectomesenchymal derivatives.[TAO] We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] In chicken fate mapping studies it was found to originate from neural crest residing between Somite 1-7 (S1-7); In mouse it is considered to be derived from rhombencephalic (post otic) neural crest cells and trunk neural crest cells (anterior to S5) EHDAA2:0002156 EHDAA:669 TAO:0000818 VHOG:0001208 XAO:0004191 ZFA:0000818 VNC uberon enteric neural crest post-otic neural crest UBERON:0005428 vagal neural crest The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates The dilated structure that is lined by endothelial cells and located at the arterial pole of the heart just above (distal to) the truncus arteriosus in mammalian embryos; it is the primordial vascular channel from which the aortic arches (and eventually the dorsal aortae) arise; the aortic sac is homologous to the ventral aorta of gill-bearing vertebrates. EHDAA2:0004145 EHDAA:9826 EMAPA:36461 FMA:71008 RETIRED_EHDAA2:0000133 SCTID:361527005 saccus aorticus UBERON:0005432 aortic sac non neural ectoderm epidermal ectoderm epithelial ectoderm surface ectoderm ventral ectoderm non-neural ectoderm Multi-tissue structure that arises from the heart rudiment and will become the heart tube. BTO:0006179 EHDAA2:0001512 EHDAA:424 EHDAA:436 EMAPA:16208 EMAPA:16215 FMA:321916 SCTID:361522004 TAO:0000149 Wikipedia:Primitive_heart_tube ZFA:0000149 primitive heart tube early primitive heart tube uberon UBERON:0005498 primitive heart tube A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. we follow Kardong table 13.1 in having some developmental contribution of pouch 4 in mammals, but this isn't reflected in EHDAA2. Consider adding distinct term for mesenchyme (see EHDAA2), to indicate NC constribution. A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production. Willett et al, 1999.[TAO] variability of developmental origin: In fish, thymic primordia are generated by all the pouches except the first. However, in avians the thymus arises from pouches 3 and 4, whereas in humans it is only generated by the third pouch[PMID:16313389] The thymus arises from the second pouch in frogs, 2-6 in cartilaginous fish, 2-3 in reptiles, 3 or 4 in bony fish, birds and mammals. The final number is variable - 5 paired organs in sharks, 4 in caecilians, 3 in urodeles, 1 in many teleost, anurans and many mammals EFO:0003622 EHDAA2:0002023 EHDAA:2969 EMAPA:17523 TAO:0001077 ZFA:0001077 thymic primordium thymic rudiment uberon UBERON:0005562 thymus primordium Portion of tissue that gives rise to the immature gonad. Immature reproductive tissue that has not undergone final maturation into either testis or ovary.[TAO] this is a very broad grouping class EFO:0003651 EHDAA:5927 EMAPA:17204 RETIRED_EHDAA2:0002148 TAO:0001262 WBbt:0008366 ZFA:0001262 future gonad gonadal primordium primitive gonad undifferentiated gonad uberon immature gonad UBERON:0005564 gonad primordium A pair of lateral diverticula just over the liver rudiment representing the primordia of the lungs, formed by the floor of the foregut just anterior to the liver diverticulum. lateral diverticula lung diverticulum lung endoderm lung primordium extrahepatic part of the hepatic duct hepatic duct extrahepatic part extrahepatic part of hepatic duct hyaloid cavity EHDAA2:0000936 EHDAA:404 EMAPA:16205 MA:0000478 SCTID:361403005 VHOG:0000484 UBERON:0005613 left dorsal aorta EHDAA2:0001720 EHDAA:406 EMAPA:16206 MA:0000479 SCTID:361404004 VHOG:0000485 UBERON:0005622 right dorsal aorta the valves that gate the flow of blood from the ventricles into the aorta and pulmonary trunk semilunar valve semilunar valves semi-lunar valve Intrinsic membrane that arises from embryonic germ layers and grow to surround the developing embryo. extraembryonic membrane A mesoderm that has the potential to develop into a pronephros. Portion of tissue that consists of the mesenchymal precursor to the pronephric kidney and that begins to separate from the intermediate mesoderm at NF stage 21 and epithelializes by NF stage 30.[AAO] AAO:0011090 EFO:0003479 TAO:0000067 VHOG:0001239 XAO:0000264 ZFA:0000067 uberon pronephric anlage pronephric bulge pronephric mesenchyme pronephric primordium UBERON:0005721 the intermediate mesoderm of the chick embryo acquires its ability to form kidneys through its interactions with the paraxial mesoderm [ISBN:9780878932504 "Developmental Biology", PMID:10720431 "Signals from trunk paraxial mesoderm induce pronephros formation in chick intermediate mesoderm"]. These interactions induce the expression of TFs including Lim1, Pax2 and Pax6 that cause the intermediate mesoderm to form the kidney pronephric mesoderm . extra-embryonic mesoderm extraembryonic mesenchyme extraembryonic mesoderm A ring of cells capable of forming a limb or paired fin[Gilbert,modified]. limb/fin field of lateral plate mesoderm paired limb/fin field paired limb/fin field A ring of cells capable of forming a limb. limb field of lateral plate mesoderm limb field The outermost layer of a blood vessel, composed mainly of fibrous tissue. adventitia externa tunica adventitia tunica adventitia of vessel external coat tunica adventitia vasorum tunica externa vasorum tunica adventitia of blood vessel An outermost connective tissue covering of an organ, vessel, or other structure[WP]. tunica advetitia tunica externa adventitia The capillary loops of the kidney that normally function as a filtration unit[MP]. ...Soon afterwards, endothelial cells invade to make a capillary knot-like outgrowth, the glomerular tuft, which goes on to form the glomerulus EMAPA:28239 SCTID:362217000 Wikipedia:Glomerulus uberon glomerular capillary tuft glomerulus UBERON:0005749 glomerular tuft A single layer of simple squamous epithelium in the glomerular capsule. Does not function in filtration[UBERON]. outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium[MP]. TODO - check this. BTO has podocytes under here Simple squamous epithelium that lines the capsule of the renal glomerulus.[TAO] BTO:0002296 EMAPA:27979 EMAPA:28260 EMAPA:35969 FMA:74272 MA:0002605 NCIT:C33271 SCTID:362218005 TAO:0005253 UMLS:C0227645 ZFA:0005253 Bowman's parietal epithelium capsular epithelium glomerular capsule parietal layer outer layer of glomerular capsule parietal capsular epithelium parietal epithelial layer parietal epithelium of Bowman's capsule parietal layer of Bowman capsule parietal layer of Bowman's capsule parietal layer of glomerular capsule renal glomerular capsule epithelium uberon kidney parietal epithelium UBERON:0005750 glomerular parietal epithelium The inner (visceral) layer of the renal glomerular capsule, overlying the capillaries, composed of podocytes, and separated from the outer (parietal) layer by the capsular (Bowman's) space[BTO]. This epithelial layer is superficially adjacent to the thickened glomerular basement membrane and is made of podocytes. Beneath the visceral layer lie the glomerular capillaries[WP]. This inner epithelial layer of the glomerular capsule surrounds the capillary endothelial cells and is composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the inner visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space)[MP]. TODO - check - the BTO class 'glomerular epithelium' is the visceral layer. But GO uses 'glomerular epithelium' as the mereological sum of P+V layers EMAPA:28254 FMA:74273 MA:0002607 NCIT:C33879 SCTID:244093000 UMLS:C0227644 Bowman's visceral epithelium glomerular capsule visceral layer inner epithelial layer of Bowman's capsule podocyte layer of Bowman's capsule visceral epithelium of Bowman's capsule visceral layer of Bowman's capsule visceral layer of glomerular capsule uberon UBERON:0005751 Formerly had rdfs:label 'visceral layer of glomerular capsule'. The current label 'glomerular visceral epithelium' was copied from UBERON:0006852, which is now obsolete since it represented the same entity as this IRI. glomerular visceral epithelium The metanephros develops from the most caudal part of the nephrogenic cord that is itself derived from the intermediate plate mesoderm. caudal portion of nephrogenic cord caudal region of nephrogenic cord rear part of nephrogenic cord rear portion of nephrogenic cord uberon UBERON:0005753 caudal part of nephrogenic cord The initial renal anlage that develops from the most rostral part of the nephrogenic cord is termed the pronephros. uberon UBERON:0005754 rostral part of nephrogenic cord A acellular anatomical structure that is the bounding layer of a anatomical structure. An acellular anatomical structure that is the bounding layer of a anatomical structure. FMA:63871 uberon UBERON:0005764 acellular membrane An acellular membrane that is part of the epithelium, lies adjacent to the epithelial cells, and is the fusion of the the basal lamina and the reticular lamina. this class represents a continuous sheet of basement membrane which can underlie multiple epithelial cells over large regions. In contrast, the GO class 'basal membrane' represents a portion of substance on the scale of a single cell. AAO:0010596 FMA:63872 GAID:915 NCIT:C13191 SCTID:68989006 UMLS:C0004799 Wikipedia:Basement_membrane basement membrane of connective tissue membrana basalis uberon basement membrane UBERON:0005769 basement membrane of epithelium The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter. the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter Membrane between the mesonephric podocytes and the renal glomerular capillaries. It is a trilaminar structure composed of the fused basement membranes of the glomerular capillaries and basement membrane of the podocytes. The capillary membranes touch the GBM at contact points that are separated by pores. The membrane is semi-permeable allowing water and small molecules to pass into the renal capsular space.[TAO] GBM EMAPA:28251 EMAPA:30965 FMA:74274 MA:0001659 MESH:D050533 NCIT:C32683 SCTID:243897006 TAO:0005285 UMLS:C0599297 Wikipedia:Glomerular_basement_membrane ZFA:0005285 glomerular capillary basement membrane glomerular filtration membrane uberon UBERON:0005777 glomerular basement membrane http://upload.wikimedia.org/wikipedia/commons/d/de/PhysiologieGlom%C3%A9rulaire.png Nephric tubules (nephrons) form embryonically along the nephric ridge. The ridge comprises three regions; anterior, middle and posterior. The functional kidney uses nephrons from only one or two regions of the ridge. A pronephric kidney uses only the nephrons from the anterior region of the ridge. A mesonephric kidney uses only the middle region, a metanephric kidney uses only the posterior region and an opisthonephric kidney uses the middle and posterior regions. TODO - check ridge vs cord vs nephrogenic cord vs blastema EHDAA2:0001242 EHDAA:1015 EMAPA:16368 VHOG:0001240 uberon nephric cord UBERON:0005792 nephric ridge fetal uterus embryonic uterus Any portion of the aorta including the ascending and descending aorta, and aortic arch or a portion of the aortic orifice of the left ventricle. FMA:13087 NCIT:C34027 SCTID:119203005 aortic section aortic segment portion of aorta segment of aorta UBERON:0005800 section of aorta The dorsal aorta is a blood vessel in a single-pass circulatory system that carries oxygenated blood from the gills to the rest of the body. In a single-pass circulatory system blood passes once through the heart to supply the body once. AAO:0011029 BTO:0004673 EHDAA:402 EMAPA:18606 SCTID:338637006 TAO:0000014 VHOG:0000264 Wikipedia:Dorsal_aorta XAO:0000051 ZFA:0000014 DA aorta dorsalis aortae dorsales dorsal aorta root dorsal aortae dorsal aortic root dorsal aortæ UBERON:0005805 dorsal aorta In the circulatory system of animals, a portal venous system occurs when a capillary bed drains into another capillary bed through veins, without first going through the heart. Both capillary beds and the blood vessels that connect them are considered part of the portal venous system. They are relatively uncommon as the majority of capillary beds drain into veins which then drain into the heart, not into another capillary bed. Portal venous systems are considered venous because the blood vessels that join the two capillary beds are either veins or venules. Examples of such systems include the hepatic portal system and the hypophyseal portal system. Unqualified, 'portal venous system' often refers to the hepatic portal system. For this reason, 'portal vein' most commonly refers to the hepatic portal vein[WP]. portal venous system portal system A delimited region of dense mesenchyme within looser mesenchyme. AEO:0000148 EHDAA2_RETIRED:0003148 EHDAA:8979 mesenchyme condensation uberon UBERON:0005856 developing mesenchymal condensation Cell condensation that is an aggregation of mesenchymal cells that are committed to differentiate into chondroblasts and chondrocytes. cartilage condensation cartilagenous condensation chondrogenic condensation cartilaginous condensation pre muscle mass premuscle mass pre-muscle condensation A delimited region of dense mesenchyme within looser mesenchyme whose cells are committed to become chondroblasts. pre-chondrogenic condensation precartilage condensation precartilagenous condensation prechondrogenic condensation pre-cartilage condensation the paired ventral prominences formed by bifurcation of the first pharyngeal arches in the embryo; the two prominences unite ventrally and fuse to form the mandible and lower lip mandibular process mandibular swelling prominentia mandibularis mandibular prominence A subdivision of the autopod that corresponds to one or more bones arranged in series branching from the main limb axis. digit or predigit limb outgrowth autopodial extension Organ with organ cavity, which has as parts a serous membrane and a serous cavity . Examples: pleural sac, pericardial sac, tendon sheath, bursa.[FMA] EMAPA:16060 FMA:9689 MA:0000005 uberon UBERON:0005906 See notes for serous membrane serous sac Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA] Epithelium that derives from the endoderm. Examples: urothelium, transitional epithelium of ureter, epithelium of prostatic gland.[FMA]. FMA:69065 endoderm-derived epithelium endoepithelium uberon UBERON:0005911 endo-epithelium Subdivision of skeleton which consists of cranial skeleton, set of all vertebrae, set of all ribs and sternum[FMA, modified]. Skeletal subdivision of the central body axis including the cranium, vertebrae, notochord, ribs, and sternum.[VSAO] AAO:0000963 EMAPA:17214 EMAPA:18043 MA:0000308 NCIT:C32172 SCTID:361725000 UMLS:C0222645 VSAO:0000056 Wikipedia:Axial_skeleton XAO:0004011 uberon skeleton axiale UBERON:0005944 axial skeleton plus cranial skeleton http://purl.obolibrary.org/obo/uberon/docs/The-axial-skeleton http://upload.wikimedia.org/wikipedia/commons/8/8b/Axial_skeleton_diagram.svg Anterosuperior fibrous portion of the left ventricle that connects to the ascending aorta. LVOT Sibson vestibule aortic vestibule heart left ventricle outflow tract left ventricular outflow left ventricular outflow tract outflow tract of left ventricle vestibulum aortae outflow part of left ventricle A sheet of somatopleure that grows upward over the embryo and eventually meets in the midline enclosing the embryo, eventually giving rise to the amnion and chorion[Kardong]. amnionic fold amniotic fold The laminar structure of the heart heart layer Any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation coronary vessel Anatomical structure embedded in or located in the integument that is part of the integumental system. Examples: hair, follicles, skin glands, claws, nails, feathers. body hair or bristle adnexae cutis skin adnexa skin adnexal structure skin appendage integumentary adnexa A threadlike extension of a nerve cell and consists of an axon and myelin sheath (if it is myelinated) in the nervous system. There are nerve fibers in the central nervous system and peripheral nervous system. A nerve fiber may be myelinated and/or unmyelinated. In the central nervous system (CNS), myelin by oligodendroglia cells is formed. Schwann cells form myelin in the peripheral nervous system (PNS). Schwann cells also make a thin covering in an axon without myelin (in the PNS). A peripheral nerve fiber contains an axon, myelin sheath, schwann cells and its endoneurium. There are no endoneurium and schwann cells in the central nervous system. nerve fibre neurofibra neurofibrum nerve fibers neurofibra nerve fiber Axons of neurons encased in a lipoproteinaceous material called myelin. (MeSH) myelinated nerve fiber non-myelinated nerve fiber unmyelinated nerve fiber the posterior section of the developing metencephalon recognized transiently within the vertebrate embryo; the rhombic lip extends posteriorly from the roof of the fourth ventricle to dorsal neuroepithelial cell and can be divided into eight structural units based on rhombomeres 1-8 (r1-r8), recognized at early stages of hindbrain development; producing granule cells and five brainstem nuclei, the rhombic lip plays an important role in developing a complex cerebellar neural system cerebellar anlage cerebellar primordium cerebellum primordium dorsal part of alar plate of metencephalon future cerebellum presumptive cerebellum rostral rhombic lip rhombic lip The membrane that covers the embryonic cloaca, formed by the union of proctodeal (anal pit) ectoderm and cloacal endoderm, with no intervening mesoderm; the urorectal septum joins the cloacal membrane and divides it into an anal membrane and a urogenital membrane; the point where the urorectal septum intersects the cloacal membrane is the future site of the perineal body; proliferation of mesoderm and ectoderm around the cloacal membrane produces primordial tissues of the external genitalia in both sexes: the genital tubercle, genital folds, and genital swellings. A membrane that separates the proctodeum and the hindgut in the early embryo. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Vertebrates:_Comparative_Anatomy, p.497, see_Kardong_KV][VHOG] In mammals, the cloaca exists as an embryonic structure that undergoes septation to become distinct urethral, anal, and genital orifices.[well established][VHOG] EHDAA2:0000257 EHDAA:214 EHDAA:2933 EMAPA:16832 FMA:295525 NCIT:C34128 SCTID:308826008 UMLS:C0231056 VHOG:0001198 Wikipedia:Cloacal_membrane embryonic cloacal membrane uberon membrana cloacalis UBERON:0006217 cloacal membrane http://upload.wikimedia.org/wikipedia/commons/d/d2/Gray991.png The foremost region of the future forebrain that develops into the diencephalon. presumptive diencephalon future diencephalon extrinsic ocular pre-muscle mass An anatomical junctions that overlaps the foregut and midgut. foregut-midgut junction The embryonic precursor of the brain. brain rudiment presumptive brain encephalon embryonic brain future brain A presumptive structure that has the potential to develop into a forebrain. future prosencephalon presumptive forebrain presumptive prosencephalon prosencephalon future forebrain presumptive spinal cord presumptive spinal cord neural keel presumptive spinal cord neural plate presumptive spinal cord neural rod future spinal cord A sac-like cavity ventral to the liver, lying in the sub-mesodermal space and closed by a thin sheet of ectodermal cells, from which the future gall bladder develops. gall bladder primordium The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. TODO - check ordering; awaiting confirmation from JB The notochordal plate is the dorsal part of the notochordal process when the ventral portion breaks down. It is continuous laterally with the endoderm that composes the roof of the primitive foregut and is in contact dorsally with the neural tube. The folding off of the notochordal plate gives rise to the notochord. [Carson_JL, Dehart_DB, Developmental_Dynamics_(1994)_201:_260-278, Gesteland_K_and_Schoenwolf_GC, Inagaki_T, Morphogenesis_of_the_murine_node_and_notochordal_plate, The_prechordal_plate, Vrablic_T, see_Mueller_F_and_O'Rahilly_R, the_rostral_end_of_the_notochord_and_nearby_median_features_in_staged_human_embryos._Cells_Tissues_Organs_(2003)_173:_1-20_and_Sulik_K][VHOG] EHDAA2:0001278 EHDAA:264 EMAPA:16101 NCIT:C34231 UMLS:C1518429 VHOG:0001212 uberon UBERON:0006267 notochordal plate A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot A midline cellular cord formed from the migration of mesenchymal cells from the primitive knot. EHDAA2:0001279 EHDAA:224 EMAPA:16102 FMA:293135 NCIT:C34232 UMLS:C1518430 VHOG:0001213 uberon chordamesoderm presumptive notochord UBERON:0006268 The notochordal process grows cranially until it reaches the prechordal plate, the future site of the mouth. In this area the ectoderm is attached directly to the endoderm without intervening mesoderm. This area is known as the oropharyngeal membrane, and it will break down to become the mouth. At the other end of the primitive streak the ectoderm is also fused directly to the endoderm; this is known as the cloacal membrane (proctodeum), or primordial anus. notochordal process Multi-tissue structure that is part of the heart tube and will become the cardiac ventricle. UBERON:0010226 embryonic ventricle EHDAA2:0001531 EMAPA:16350 FMA:71006 NCIT:C34160 SCTID:361524003 TAO:0002231 Wikipedia:Embryonic_ventricle ZFA:0001719 early heart ventricle embryonic heart ventricle future heart ventricle presumptive cardiac ventricle heart tube primitive ventricle primitive ventricle of heart primordial cardiac ventricle primordial ventricle UBERON:0006283 The embryonic ventricle or primitive ventricle of the developing heart gives rise to the trabeculated parts of the left and right ventricles. In contrast, the smooth parts of the left and right ventricles originate from the embryological bulbus cordis. The primitive ventricle becomes divided by a septum, the septum inferius or ventricular septum, which grows upward from the lower part of the ventricle, its position being indicated on the surface of the heart by a furrow. Its dorsal part increases more rapidly than its ventral portion, and fuses with the dorsal part of the septum intermedium. For a time an interventricular foramen exists above its ventral portion, but this foramen is ultimately closed by the fusion of the aortic septum with the ventricular septum[WP] future cardiac ventricle A segment of the eyeball that is filled with refractive media eye chamber eyeball chamber chamber of eye chamber of eyeball Body substance in a liquid or semi-solid state in the eyeball which serves to refract light. ocular refractive media bodily fluid Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. fluid fluid BIRNLEX:20 EMAPA:37441 FMA:280556 GAID:266 MESH:D001826 Wikipedia:Body_fluid galen:BodyFluid body fluid uberon UBERON:0006314 bodily fluid A peritubular capillary that is part of a outer medulla of kidney. EMAPA:35461 MA:0002589 kidney outer medulla peritubular capillary uberon UBERON:0006341 outer renal medulla peritubular capillary Missing definition for term UBERON:0006376. Please replace it using linked reference. https://sourceforge.net/tracker/?func=detail&aid=3123600&group_id=76834&atid=1205376 EMAPA:29671 MA:0002628 distal straight tubule premacula segment kidney medulla loop of Henle ascending limb thick segment medullary thick ascending limb of Henle's loop renal medulla loop of Henle ascending limb thick segment renal medulla thick ascending limb uberon UBERON:0006376 premacula segment of distal straight tubule Recesses of the kidney pelvis which divides into two wide, cup-shaped major renal calices, with each major calix subdivided into 7 to 14 minor calices. Urine empties into a minor calix from collecting tubules, then passes through the major calix, renal pelvis, and ureter to enter the urinary bladder. (From Moore, Clinically Oriented Anatomy, 3d ed, p211). calyx EMAPA:18676 FMA:284558 GAID:427 MA:0000369 MESH:D007670 NCIT:C12927 SCTID:276832000 calices renales renal calix renal calyx calices renales UBERON:0006517 kidney calyx Any region of a nephron tubule that is convoluted. Examples: distal convoluted tubule, proximal convoluted tuble. EMAPA:35725 MA:0001665 NCIT:C49479 SCTID:361333002 UMLS:C1707510 Wikipedia:Convoluted_tubule convoluted tubule kidney convoluted tubule uberon UBERON:0006534 renal convoluted tubule A loop of Henle that is part of a kidney outer medulla inner stripe. EMAPA:29679 MA:0002627 uberon UBERON:0006541 outer medulla inner stripe loop of Henle A loop of Henle that is part of a kidney outer medulla outer stripe. EMAPA:29665 MA:0002630 uberon UBERON:0006542 outer medulla outer stripe loop of Henle A vasculature that is part of a kidney. EMAPA:28457 TAO:0005305 ZFA:0005305 uberon UBERON:0006544 kidney vasculature A tube in the kidney that collect and transport urine. in ZFA this is defined as part of mesonephros TAO:0005289 ZFA:0005289 uberon UBERON:0006553 renal duct A tube that is part of a excretory system. uberon UBERON:0006555 excretory tube An organ system subdivision that is a network of vessels capable of removing accumulating protein and fluid from the interstitial space and returning it to the vascular space. In some species, this network is connected to the immune system via lymph nodes and lymphocyte-producing organs, with the whole being the lymphoid system. lymphatic system lymphatic tree system lymporeticular system lymphatic part of lymphoid system The pharynx is the part of the digestive system immediately posterior to the mouth[GO]. currently this is an extremely generic class, encompassing both protostomes and deuterostomes. 2023-04-20 branchial pharyngeal FBbt:00005380 MAT:0000049 MESH:D010614 MIAA:0000049 uberon anterior part of foregut pharyngeal tube UBERON:0006562 pharynx Presumptive structure of the blastula that will develop into endoderm. AAO:0000471 EFO:0003437 TAO:0000416 ZFA:0000416 uberon UBERON:0006595 presumptive endoderm AAO:0000468 EFO:0003439 TAO:0000568 ZFA:0000568 future blood uberon UBERON:0006596 presumptive blood Portion of embryonic tissue determined by fate mapping to become a structure. Consider merging with anlage AAO:0000479 TAO:0001116 ZFA:0001116 future structure presumptive structures uberon UBERON:0006598 presumptive structure Presumptive structure of the blastula that will develop into ectoderm. AAO:0000470 EFO:0003466 TAO:0001376 XAO:0004132 ZFA:0001376 uberon presumptive epidermis UBERON:0006601 presumptive ectoderm Presumptive structure of the blastula that will develop into mesoderm. AAO:0000476 EFO:0003467 TAO:0001377 ZFA:0001377 uberon UBERON:0006603 presumptive mesoderm 2 2 A joint that connects one phalanx to another along a proximodistal axis. inter-phalangeal joint inter-phalanx joint interphalangeal joint The third segment of the limb, including either the wrist segment (carpus) or the ankle segment (tarsus) carpus/tarsus mesopodial limb segment mesopodial segment mesopod mesopodium region The collection of all skeletal elements in an autopodium region. autopod skeleton autopodial skeleton skeletal parts of autopod skeleton of autopod autopodium autopodial skeleton A canthus is a corner of the eye where the upper and lower eyelids meet. The bicanthal plane is the transversal plane linking both canthi and defines the upper boundary of the midface. palpebral commissure angle of eye bicanthal bicanthal plane canthi canthoplasty canthorum canthus (anatomy) canthus of eye canthus An epithelium that is composed primarily of secretory cells. glandular epithelium Structural framework that provides support to the nasal sacs and ducts. skeleton of nose nasal skeleton A peritubular capillary that is part of a cortex of kidney. EMAPA:37488 MA:0002590 kidney cortex peritubular capillary uberon UBERON:0006851 renal cortex peritubular capillary A region of nephron tubule that is part of a cortex of kidney. EMAPA:18976 MA:0002609 kidney cortex tubule uberon cortical tubule UBERON:0006853 renal cortex tubule https://sourceforge.net/tracker/?func=detail&aid=3123598&group_id=76834&atid=1205376 EMAPA:28402 MA:0002615 cortical thick ascending limb of Henle's loop kidney cortex loop of Henle ascending limb thick segment renal cortex loop of Henle ascending limb thick segment renal cortex thick ascending limb uberon UBERON:0006854 distal straight tubule postmacula segment This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells[GO] adrenal gland - interrenal gland adrenal gland/interrenal tissue adrenal - interrenal gland suprarenal gland - interrenal gland adrenal/interrenal gland The distalmost portion of the digestive tract, derived from the hindgut, and terminating with the anus. this class is the superclass of 'rectum', which is currently reserved for the vertebrate structure. May be merged in future. FBbt:00005756 WBbt:0005773 rectum uberon rectal part of digestive tract terminal section of digestive tract UBERON:0006866 terminal part of digestive tract A vasculature that is part of a organ. FMA:74612 organ vasculature set of blood vessels of organ uberon UBERON:0006876 vasculature of organ A head mesenchyme that develops_from a mesoderm. head mesenchyme derived from mesoderm head mesenchyme from head mesoderm head mesenchyme from mesoderm mesenchyme derived from head mesoderm mesenchyme from head mesoderm cranial mesoderm head mesoderm head mesenchyme from mesoderm An anatomical space that surrounded_by a digestive tract. digestive tract lumen gut cavity gut lumen lumen of alimentary tract lumen of digestive tract lumen of gut lumen of digestive tract An epithelium characterised by its most superficial layer consisting of squamous epithelial cells. FBbt:00007028 (squamous epithelium) A type of epithelium that is made up of flattened cells which are arranged with their long axes in the plane of the epithelium BTO:0002072 NCIT:C12848 SCTID:40118003 UMLS:C0221909 Wikipedia:Squamous_epithelium uberon UBERON:0006914 squamous epithelium A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands. epithelium of gastric gland gastric gland epithelium stomach glandular epithelium Any gland that is part of the digestive system. digestive gland digestive system gland Simple columnar epithelium that constitutes the secretory part of a gland. Examples: epithelium of stomach, luminal epithelium of lactiferous duct.[FMA] glandular columnar epithelium stomach mucosa that is lined with glandular epithelium and part of a stomach glandular region. stomach glandular region glandular mucous membrane stomach glandular region mucosa An epithelium that is part of a uterus. uterus epithelium uterine epithelium The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. EFO:0003709 TAO:0005077 ZFA:0005077 uberon UBERON:0006965 vascular cord A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n A two dimensional anatomical structure that is the boundary between an anatomical structure and an anatomical substance, an anatomical space or the organism's environment. Examples include the surface of your skin, the surface of the lining of your gut; the surface of the endothelium of you aorta that is in contact with blood.n. AAO:0010270 BILA:0000010 CARO:0001002 EHDAA2:0003192 EHDAA2_RETIRED:0003192 FMA:24137 ID:0000000 NCIT:C34022 UMLS:C1515977 ZFA:0005594 uberon UBERON:0006984 Old definition: 'Non-material anatomical entity of two dimensions, that is demarcated by anatomical lines or points on the external or internal surfaces of anatomical structures.' Note, in the new definition, the space referred to is not necessarily an anatomical space. It may be the outside of an organism. anatomical surface The splanchnic mesoderm in the cardiogenic region where the heart develops; it gives rise to endocardial heart tubes that fuse to form the primordial cardiac tube, the heart primordium[web]. Two migratory heart primordia that move ventrally during the course of neurulation, and then fuse[XAO]. consider FBbt:00005541 ! cardiogenic mesoderm review EHDAA2 placement AAO:0011021 BILA:0000051 EFO:0000315 EHDAA2:0000214 EHDAA:385 FMA:293143 SCTID:360387000 VHOG:0001641 XAO:0000235 cardiogenic splanchnopleure uberon cardiac mesoderm cardiogenic mesoderm cardiogenic region heart primordia UBERON:0007005 cardiac mesoderm cardiogenic splanchnic mesoderm Organism at the cleavage stage. BILA:0000058 uberon UBERON:0007010 cleaving embryo A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. adult adults adult organism The endodermal cells generate only the lining of the digestive tube and its glands; mesodermal mesenchyme cells will surround this tube to provide the muscles for peristalsis BILA:0000084 NCIT:C34268 SCTID:360394002 UMLS:C1514442 future digestive tract future digestive tube future gut primitive gut uberon embryonic digestive tube primordial digestive tube primordial gut UBERON:0007026 presumptive gut mechanosensory system A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood or analogs[GO,modified]. note we reserve the subclass 'heart' from the vertebrate multi-chambered heart. 'The first heart-like organ is believed to have appeared 500my ago in an ancestral bilaterian'. Amniotes: four-chambered heart. Amphibians: two atria, one ventricle, pulmonary; fish: single atrium and ventricle; amphioxus: tubular, non-striated, closed, unidirectional; ascidians: tubular, striated, open, bidirectional; arthropods: tubular, open; C elegans: contractile pharynx; Cnideria: striated muscle cells associated with gastrodermis FBbt:00003154 SPD:0000130 TADS:0000147 http://www.sciencemag.org/content/313/5795/1922/F1.large.jpg dorsal tube heart uberon adult heart UBERON:0007100 Gene notes: Bmp, Nkx, Gata primary circulatory organ A pharyngeal puch that is between the pharyngeal arches 2 and 3. 2nd arch branchial pouch 2nd arch branchial pouch endoderm 2nd arch pouch endoderm 2nd branchial pouch 2nd pharyngeal pouch endoderm pharyngeal pouches 2 second arch pharyngeal pouch second visceral pouch visceral pouch 2 second pharyngeal pouch pharyngeal pouch 2 An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. Kimmel et al, 1995.[TAO] EFO:0003497 TAO:0000131 ZFA:0000131 uberon presumptive central nervous system UBERON:0007135 neural keel Mesenchyme that develops_from a cranial neural crest. head mesenchyme from cranial neural crest head mesenchyme from neural crest head neural crest derived mesenchyme mesenchyme derived from head neural crest An embryo stage that covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching. EV:0300011 EVM:2990031 FBdv:00005333 FMA:63631 MIAA:0000399 MmusDv:0000031 OGES:000023 SCTID:367619004 embryo late (growth) stage fetus embryo late growth stage embryo late stage UBERON:0007220 late embryonic stage Of or pertaining to the period of time immediately following birth, or to the newborn. consider splitting infant/newborn BTO:0001762 EV:0300037 HsapDv:0000082 MmusDv:0000096 NIF_Organism:birnlex_695 OGES:000025 neonatal stage fledgling stage hatchling hatchling stage infant stage nestling stage pouch stage puggle puggle stage uberon newborn stage UBERON:0007221 neonate stage ventral pharyngeal arch 1 ventral mandibular arch ventral visceral arch 1 1st arch mandibular component Gray matter of the central nervous system which is a collection of clustered nuclei. cluster of neural nuclei neural nuclei nuclear complex nuclear complex of neuraxis The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, 'rhombencephalosynapsis' is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. presumptive rhombencephalon embryonic rhombencephalon future hindbrain rhombencephalon presumptive hindbrain A presumptive structure that has the potential to develop into a endocardium. presumptive endocardium Embryonic structure that gives rise to the midbrain hindbrain boundary. presumptive MHB presumptive midbrain-hindbrain boundary presumptive midbrain hindbrain boundary A presumptive structure that has the potential to develop into a presomitic mesoderm. EFO:0003421 TAO:0000053 ZFA:0000053 uberon presumptive segmental plates UBERON:0007282 presumptive segmental plate A presumptive structure that has the potential to develop into a neural plate. consider merging Region of the gastrula which gives rise to the neural plate.[TAO] EFO:0003424 TAO:0000063 ZFA:0000063 prospective neuroectoderm prospective vegetal ectoderm uberon UBERON:0007284 presumptive neural plate A presumptive structure that has the potential to develop into a paraxial mesoderm. The part of the blastula that has the potential to develop into a paraxial mesoderm. EFO:0003443 TAO:0000591 XAO:0004134 ZFA:0000591 future paraxial mesenchyme future paraxial mesoderm uberon UBERON:0007285 presumptive paraxial mesoderm A presumptive structure that has the potential to develop into a pronephric mesoderm. EFO:0003619 TAO:0001070 ZFA:0001070 nephron primordium uberon UBERON:0007297 presumptive pronephric mesoderm A vasculature that is part of a chordate pharynx. TAO:0005003 ZFA:0005003 branchial vasculature UBERON:0007303 pharyngeal vasculature A dense accumulation of exocrine glands in the pancreas often surrounding islets of Langerhans. lobulus pancreaticus pancreas lobe pancreatic lobule pancreatic lobule A duct that collects and carries secretions of the exocrine pancreas to the intestine. duct of pancreas pancreas duct ductus pancreaticus pancreatic duct The epidermis is the entire outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species[GO]. this grouping class exists primarily to align with GO - see GO:0008544. BSA:0000073 BTO:0000313 FBbt:00004993 HAO:0000298 TADS:0000109 WBbt:0005733 epidermis epidermis (sensu Metazoa) outer epidermal layer outer epithelial layer uberon hypoderm hypodermis UBERON:0007376 outer epithelium Portion of the dermis characterized by a well-arranged, plywood-like, collagenous network. Portion of the dermis characterized by a well-arranged, plywood-like, collagenous network. Le Guellec et al, 2004.[TAO] relationship loss: develops_from collagenous dermal stroma (TAO:0001186)[TAO] connective tissue in the skin is usually diffuse and irregular, although in some species collagen bundles are arranged in a distinct ordered layer in the dermis AAO:0010600 TAO:0001182 ZFA:0001182 dermal deep region uberon UBERON:0007377 stratum compactum Outermost layer of cells surrounding the embryo. Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm. Kimmel et al, 1995.[TAO] relationship loss: develops_from superficial blastomere (TAO:0001484)[TAO] Originally this tissue is one cell layer thick but in most vertebrates it soon becomes a two layered structure. The outer layer gives rise to the periderm. EFO:0003425 TAO:0000086 ZFA:0000086 EVL enveloping layer uberon UBERON:0007383 enveloping layer of ectoderm Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6) chiasm chiasma decussation decussation of neuraxis neuraxis chiasm neuraxis chiasma neuraxis decussation neural decussation A neural decussation that is part of a diencephalon. diencephalon decussation decussation of diencephalon An epithelial tube that is open at one end only. AEO:0000115 EHDAA2:0003115 uberon UBERON:0007499 epithelial sac An epithelial tube open at both ends that allows fluid flow. AEO_RETIRED:0000116 RETIRED_EHDAA2:0003116 uberon UBERON:0007500 epithelial tube open at both ends A closed epithelium with a lumen. EHDAA2:0003119 AEO:0000119 EHDAA2:0003119 uberon UBERON:0007503 epithelial vesicle Mesenchyme with little extracellular matrix. EHDAA2:0003146 AEO:0000146 EHDAA2:0003146 uberon UBERON:0007524 dense mesenchyme tissue Mesenchyme whose cells are embedded in obvious amounts of extracellular matrix. loose mesenchyme tissue Mesenchymal cells that are migrating. this class will be an important part of the NC reorganization EHDAA2:0003152 AEO:0000152 EHDAA2:0003152 uberon UBERON:0007530 migrating mesenchyme population A thin, loose vascular connective tissue that makes up the membranes surrounding joints and the sheaths protecting tendons (particularly flexor tendons in the hands and feet) where they pass over bony prominences. Synovial tissue contains synovial cells, which secrete a viscous liquid called synovial fluid; this liquid contains protein and hyaluronic acid and serves as a lubricant and nutrient for the joint cartilage surfaces[BTO]. Synovial tissue can be found in tendons (tissues that connect muscle to bone), bursae (fluid-filled, cushioning sacs found in spaces between tendons, ligaments, and bones), and the cavity (hollow enclosed area) that separates the bones of a freely movable joint, such as the knee or elbow[BTO]. BTO:0001338 CALOHA:TS-0998 FMA:66762 synovium stratum synoviale synovial layer synovial membrane uberon synovial tissue UBERON:0007616 layer of synovial tissue An anatomical cavity that surrounded_by a synovial joint. FMA:11356 articular cavity (synovial joint) cavitas articularis (junctura synovialis) cavity of synovial joint uberon joint cavity synovial cavity UBERON:0007617 synovial cavity of joint epithelial layer of the retina, ciliary body, or iris composed of cells containing pigment granules. eye pigment epithelium pigment epithelium of eye A developing mesenchymal capsule that covers the developing brain and spinal cord and is the precursor of the meningeal cluster. In mammals this gives rise to the arachnoid mater, pia mater and dura mater. In cyclostomes and fishes, the future meninx gives rise to a single meningeal layer, the primitive meninx. primary meninx meninx primitiva primitive meninx primordial meninx future meninx 2 An anatomical structure that connects two structures junction anatomical junction anatomical junction Functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule. functional unit of the kidney that forms urine, consisting of two parts, the nephron and the collecting tubule. FMA:17691 uberon UBERON:0007684 uriniferous tubule consider moving MA:0000377 renal tubule here, as it includes the various segments (proximal etc) as subclasses, not parts FMA:17692 renal tubule region uberon region of renal tubule UBERON:0007685 region of nephron tubule Region of the embryo into the area in which the kidney rudiment will develop. region of the embryo into the area in which the kidney rudiment will develop. uberon kidney anlage UBERON:0007687 kidney field Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. field AEO:0000170 EFO:0001649 EHDAA2:0003170 FBbt:00005426 Wikipedia:Anlage_(biology) developmental field uberon future organ organ field UBERON:0007688 anlage endodermal bud derived from the endodermal epithelium of the embryonic pharyngeal floor[MP]. The thyroid diverticulum is the embryological structure from which thyroid follicular cells derive. It grows from the floor of the pharnyx[WP]. diverticulum thyroideum saccus thyroideus thyroid diverticulum . EFO:0003626 EHDAA2:0001457 EHDAA:962 EMAPA:32754 FMA:293087 TAO:0001104 ZFA:0001104 early pharyngeal arch endoderm uberon pharyngeal arch endoderm pharyngeal endoderm pharyngeal region endoderm UBERON:0007690 relation conflict: ZFA vs EHDAA2. Note EHDAA2 term renamed to 'early PA endoderm' early pharyngeal endoderm http://dev.biologists.org/content/128/22/4573.full An axon tract that is part of a brain. brain tract landmark tracts tract of brain A gland that is part of a epidermis. epidermal gland gland of epidermis epidermis gland Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces Any bodily fluid that has passed through a membrane such as the capillary wall, as a result of unbalanced hydrostatic and osmotic forces. transudative characteristically low in protein and cellular content (unless there has been secondary concentration) FMA:12276 GAID:1195 MESH:D005122 ncithesaurus:Transudate uberon plasma ultrafiltrate UBERON:0007779 transudate Any fluid produced by a serous gland. the FMA def is Transudate contained in a serous sac serous fluid FMA:20932 Wikipedia:Serous_fluid serosal fluid serous gland fluid uberon UBERON:0007794 secretion of serous gland serous fluid Anatomical system that consists of all blood and lymph vessels. consider merging with vasculature The cardiovascular and lymphatic systems, collectively[ncithesaurus:Vascular_System]. in both MA and BTO, the arterial system and venous sytem are subtypes of the vascular system BTO:0001085 CALOHA:TS-2053 EHDAA2:0004520 EMAPA:35905 MA:0002718 NCIT:C33854 UMLS:C0489903 uberon Gefaesssystem@de Gefaesssystem@ge UBERON:0007798 vascular system The anteriormost subdivision of the body that includes the head, jaws, pharyngeal region and the neck (if present). In vertebrates this is the subdivision that includes the cervical vertebrae. CALOHA:TS-2356 EV:0100009 FMA:280881 MA:0000006 NCIT:C12418 SCTID:361355005 UMLS:C0460004 WikipediaCategory:Head_and_neck galen:HeadAndNeck uberon cephalic area cephalic part of animal cephalic region head and neck head or neck UBERON:0007811 craniocervical region An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). this encompasses non-skeletal tissue An organism subdivision that encompasses the region containing the pectoral or pelvic girdle. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). There are only two instances of appendage girdle regions per organism.[VSAO] UBERON:0007824 girdle girdle region EMAPA:37854 FMA:24874 VSAO:0000303 uberon fin girdle fin girdle region limb girdle limb girdle region UBERON:0007823 appendage girdle region A subdivision of a limb or fin skeleton consisting of bones which connects the upper limb or fin to the axial skeleton on each side. It consists of the clavicle and scapula in humans and, in those species with three bones in the pectoral girdle, the coracoid. Some mammalian species (e.g. the dog and the horse) have only the scapula. In humans, the only joints between the shoulder girdle and axial skeleton are the sternoclavicular joints on each side. No joint exists between each scapula and the rib cage; instead the muscular connection between the two permits relatively great mobility of the shoulder girdle in relation to the pelvic girdle. In those species having only the scapula, no joint exists between the forelimb and the thorax, the only attachment being muscular[WP]. Examples: There are only two instances, right and left pectoral girdle skeletons. Anatomical cluster of paired dermal and endochondral bones that attaches to the dorso-posterior part of the cranium, and support the radials and pectoral fin. It consists of two components: the primary pectoral girdle consisting of the endochondral coracoid, scapula and mesocoracoid bones, and the secondary pectoral girdle consisting of the dermal posttemporal, supracleithrum, cleithrum and poscleithrum(thra) bones.[TAO] Girdle skeleton consisting of a set of bones linking the axial series to the forelimb/fin skeleton and offering anchoring areas for forelimb/fin and caudal musculature.[VSAO] Skeletal structure immediately behind the head attached to the vertebral column by muscles and supporting the forelimbs.[AAO] The pectoral girdle is clearly of dual origin, composed of dermal as well as endochondral bones. The endochondral component, the scapulocoracoid, evolved by fusion or enlargment of several basal fin elements. (...) The dermal component of the shoulder girdle evolved from dermal bones of the body's surface. (...) Like endochondral bones, these dermal bones were passed along to tetrapods (...).[well established][VHOG] Note that the VSAO and many ontologies use the label 'pectoral girdle' to denote the skeletal region specifically. AAO:0000422 AAO:0000754 EFO:0000946 EHDAA2:0001420 FMA:24141 MAT:0000181 MIAA:0000181 NCIT:C33547 TAO:0000407 UMLS:C0427245 VHOG:0001156 VSAO:0000156 Wikipedia:Pectoral_girdle XAO:0003063 ZFA:0000407 skeletal parts of pectoral girdle skeleton of pectoral girdle uberon cingulum pectorale pectoral girdle scapular girdle UBERON:0007831 pectoral girdle skeleton http://upload.wikimedia.org/wikipedia/commons/2/22/Pectoral_girdle_front_diagram.svg Skeletal subdivision consisting of a set of bones linking the axial series to the hindlimb zeugopodium and offering anchoring areas for hindlimb and caudal musculature. need to resolve whether this is a paired structure or a single belt (Paired in FMA - implicitly paired in VSAO) Anatomical cluster by which the hind limbs are supported and attached to the vertebral column.[AAO] Anatomical cluster that consists of the paired basipterygia which support the pelvic fin.[TAO] Girdle skeleton consisting of a set of bones linking the axial series to the hindlimb/fin skeleton and offering anchoring areas for hindlimb/fin and caudal musculature.[VSAO] The pelvic girdle is never joined by contributions of dermal bone. From its first appearance in placoderms, the pelvic girdle is exclusively endoskeletal. It arose from pterygiophores, perhaps several times, in support of the fin.[well established][VHOG] Note that the VSAO and many ontologies use the label 'pelvic girdle' to denote the skeletal region specifically. We place the EHDAA2 class here, note that this includes the pre-cartilage condensation as parts AAO:0000426 AAO:0000768 EFO:0000947 EHDAA2:0001426 EHDAA:7149 EHDAA:8324 EMAPA:18028 FMA:87592 MAT:0000182 MIAA:0000182 TAO:0000565 VHOG:0000305 VSAO:0000155 Wikipedia:Pelvis XAO:0003064 ZFA:0000565 galen:PelvicGirdle http://people.eku.edu/ritchisong/pectoralgirdles.gif pelvic girdle skeleton skeletal parts of pelvic girdle skeleton of pelvic girdle uberon pelvic girdle UBERON:0007832 pelvic girdle skeleton http://upload.wikimedia.org/wikipedia/commons/f/fe/Gray242.png Skeletal element that is composed of cartilage tissue and may be permanent or transient. cartilage organ cartilaginous element chondrogenic element cartilage cartilage element Connective tissue, which consists of fibroblasts, the intercellular matrix of which contains a regular network of collagen and elastic fiber bundles. Examples: bone (tissue), cartilage (tissue), dense regular connective tissue. regular connective tissue Connective tissue that is dominated by collagen fibres organized into a definitive pattern (e.g., parallel to one another), with comparatively fewer cells (mostly fibroblasts). dense fibrous connective tissue dense regular collagenous connective tissue dense regular collagenous tissue regular dense connective tissue typus regularis (textus connectivus collagenosus compactus) dense regular connective tissue Musculature system of the pharyngeal and head regions. head or neck muscle head muscles head or neck muscle craniocervical region musculature A knoblike tooth primordium that develops into the mature tooth and consists of enamel organ, dental papilla, and dental sac enclosing them. dental bud dental germ tooth germ tooth bud An endothelium that is part of a heart [Automatically generated definition]. cardiac endothelium heart endothelium BTO:0003122 uberon UBERON:0008339 microvascular endothelium https://github.com/obophenotype/uberon/issues/2186 The cells lining the proximal tubule are cuboidal epithelial cells with deep basal membrane invaginations that provide a large basal surface area. The long microvilli (the brush border) lining the tubule lumen, maximize luminal surface area and make these cells ideally suited for both reabsorptive and secretory functions. See https://github.com/obophenotype/uberon/issues/1305 BTO:0003576 FMA:64808 epithelium of proximal convoluted tubule epithelium of proximal renal tubule proximal renal tubule epithelium proximale tubular epithelium uberon proximal tubule epithelium UBERON:0008404 proximal tubular epithelium An embryonic structure that is derived from the inner cell mass and lies above the hypoblast and gives rise to the three primary germ layers embryonic epiblast inner cell mass derived epiblast A transient embryonic complex that comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming, which may include (depending on species) the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear[GO,modified]. Currently defined in a vertebrate specific manner. The arch system has origins in basal deuterostomes, consider generalizing EHDAA2:0000187 FMA:293041 NCIT:C34248 UMLS:C1519038 embryonic pharyngeal complex pharyngeal apparatus pharyngeal system uberon pharyngeal arch complex pharyngeal arch region pharyngeal arches and clefts pharyngeal complex UBERON:0008814 pharyngeal arch system A head that is part of a embryo. CALOHA:TS-0246 FMA:293011 UBERON:0008816 embryonic head An out-pocket of thickened ventral foregut epithelium adjacent to the developing heart. Constitutes the first morphological sign of the embryonic liver. The anterior portion of the hepatic diverticulum gives rise to the liver and intrahepatic biliary tree, while the posterior portion forms the gall bladder and extrahepatic bile ducts. liver diverticulum diverticulum hepaticum hepatic diverticulum liver bud The short narrow part of the stomach extending from the pyloric antrum to the pyloric sphincter canalis pyloricus canalis pyloricus pyloric canal The gastric glands in the pyloric region of the stomach; the pyloric glands secrete mucin, which coats the stomach and protects it, and hormones such as gastrin and enkephalin[MP]. glandula pylorica pyloric antrum gland pyloric gland pyloric mucuous gland pyloric gastric gland The part of the cardiovascular system consisting of all pulmonary arteries and all pulmonary veins. pulmonary circulatory system pulmonary system pulmonary vascular system Subdivision of endoskeleton derived from pharyngeal arches pharyngeal endoskeleton viscerocranium branchial arch skeleton gill arch skeleton pharyngeal arch pharyngeal arch skeleton pharyngeal skeleton visceral cranium visceral skeletal system visceral skeleton splanchnocranium A parenchyma that is part of a lung. respiratory portion of lung parenchyma of lung pulmonary parenchyma lung parenchyma respiratory primordium The functional tissue of the kidney, consisting of the nephrons. BTO:0003604 FMA:15574 SCTID:29704000 parenchyma of kidney uberon kidney parenchyma UBERON:0008987 renal parenchyma Any region of a nephron tubule that is straight. Examples: distal convoluted tubule, proximal convoluted tuble. EMAPA:37489 MA:0002634 SCTID:245151008 Wikipedia:Tubuli_seminiferi_recti kidney straight tubule straight tubule uberon UBERON:0009035 renal straight tubule This class was created in order to align KUPO with CL. The original class was undefined, and the intended meaning is not clear, may be obsoleted in future. The vasa recta is parallel to the loop of Henles, this may refer to the portion of the vasa recta in the inner medullar parallel to the descending limb KUPO:0001003 uberon UBERON:0009089 inner medulla vasa recta descending limb This class was created in order to align KUPO with CL. The original class was undefined, and the intended meaning is not clear, may be obsoleted in future. The vasa recta is parallel to the loop of Henles, this may refer to the portion of the vasa recta in the outer medullar parallel to the descending limb KUPO:0001004 uberon UBERON:0009090 outer medulla vasa recta descending limb This class was created in order to align KUPO with CL. The original class was undefined, and the intended meaning is not clear, may be obsoleted in future. The vasa recta is parallel to the loop of Henles, this may refer to the portion of the vasa recta parallel to the ascending limb KUPO:0001005 uberon UBERON:0009091 vasa recta ascending limb This class was created in order to align KUPO with CL. The original class was undefined, and the intended meaning is not clear, may be obsoleted in future. The vasa recta is parallel to the loop of Henles, this may refer to the portion of the vasa recta in the inner medulla parallel to the ascending limb KUPO:0001006 uberon UBERON:0009092 inner medulla vasa recta ascending limb This class was created in order to align KUPO with CL. The original class was undefined, and the intended meaning is not clear, may be obsoleted in future. The vasa recta is parallel to the loop of Henles, this may refer to the portion of the vasa recta in the outer medulla parallel to the ascending limb KUPO:0001007 uberon UBERON:0009093 outer medulla vasa recta ascending limb KUPO:0001009 papillary tip papillary tips uberon UBERON:0009095 tip of renal papilla An organism containing a developing embryo, fetus, or unborn offspring within the body. gravid pregnant adult pregnant adult stage pregnant organism pregnant stage gravid organism A gonad prior to differentiating into a definitive testis or ovary. gonad rudiment indifferent gonad The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary pituitary placode adenohypophyseal placode Sum total of mesenchyme in the embryo. consider adding new class (EMAPA:16097) for mesenchyme of embryo (some mesenchyme is extraembryonic - e.g. amnion mesoderm) UBERON:0003313 EHDAA2:0001113 EHDAA:177 EMAPA:16097 uberon UBERON:0009142 entire embryonic mesenchyme EMAPA:16549 RETIRED_EHDAA2:0001454 pharyngeal region uberon UBERON:0009145 pharyngeal region of foregut EHDAA2:0004021 uberon UBERON:0009196 indifferent external genitalia A nephric duct is a tube that drains a primitive kidney[GO]. EMAPA:16577 Wikipedia:Wolffian_duct uberon UBERON:0009201 pronephric duct or mesonephric duct nephric duct This class was created in order to align KUPO with CL. The original class was undefined, and the intended meaning is not clear, may be obsoleted in future. The vasa recta is parallel to the loop of Henles, this may refer to the portion of the vasa recta parallel to the descending limb KUPO:0001002 uberon UBERON:0009202 vasa recta descending limb An epithelium that is part of a foregut-midgut junction. epithelium of foregut-midgut junction An endoderm that is part of a foregut-midgut junction. endoderm of foregut-midgut junction A segment of a digit containing the distal phalanx, and overlapping the distal interphalangeal joint[CJM]. The digit tip is derived from multiple and distinct embryonic origins, and includes the distal bone with associated marrow cavity and haematopoietic cells, ventral (flexor) and dorsal (extensor) tendons, sweat glands with myoepithelial and luminal secreting cells and associated neurons for innervation, dermis with resident melanocytes and dendritic cells, mesenchyme with resident fibroblasts, skin epidermis with hair follicles, a nail organ composed of six specific parts (the root, nail bed, nail plate, eponychium (cuticle), perionychium and hyponychium). digit tip distal digit segment tip of digit distal segment of digit A nail, hoof or claw. hoof or claw hoof, claw or nail keratin plate keratin sheath unguis distal limb integumentary appendage FMA:25054 SCTID:22943007 region of trunk trunk subdivision uberon UBERON:0009569 subdivision of trunk mantle layer lateral wall midbrain midbrain lateral wall mantle layer mantle layer lateral wall mesencephalon midbrain mantle layer MHB neural plate midbrain-hindbrain boundary neural plate midbrain hindbrain boundary neural plate A presumptive structure that has the potential to develop into a midbrain. presumptive mesencephalon early midbrain future midbrain mesencephalon presumptive midbrain EHDAA2:0002094 trunk and cervical paraxial mesenchyme uberon trunk paraxial mesenchyme UBERON:0009618 trunk paraxial mesoderm pancreatis dorsalis dorsal pancreas pancreatis ventralis ventral pancreas EHDAA2:0004621 EMAPA:32754 FMA:293087 uberon pharyngeal arch endoderm UBERON:0009722 entire pharyngeal arch endoderm The primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells. limb mesoderm limb mesenchyme The embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing cardiac structures heart mesenchyme cardiac mesenchyme An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx. DIJ joint DIP joint distal interphalangeal joint A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. this class groups vertebrate nephron tubules with analagous structures such as insect Malpighian tubules renal tubule (generic) tubule of excretory system uberon UBERON:0009773 renal tubule The many-lobed berry cluster of cells that is the terminous of a gland where the secretion is produced is acinar in form. acinar acinus FMA:55588 Wikipedia:Acinus uberon acini UBERON:0009842 glandular acinus http://upload.wikimedia.org/wikipedia/commons/9/99/Gray1105.png Branch or outpocketing of the digestive tract. diverticulum of gut intestinal pouch digestive tract diverticulum galen:Diverticulum pouch uberon diverticulum UBERON:0009856 sac A division of the stomach. The stomach can be divided based on mucosal histology (glandular epithelium and gastric glands) and the relative position and type of gastric gland. gastric zone region of stomach section of stomach zone of stomach Outer portion of the renal cortex. Site of formation of medullary and cortical elements. see http://www.ncbi.nlm.nih.gov/pubmed/12761251 for description of nephrogenic zone in dogfish. EMAPA:27721 MA:0002996 http://www.gudmap.org/Images/Organ_Summaries/Metanephros/NZ.png cortical nephrogenic niche cortical nephrogenic zone uberon nephrogenic tissue UBERON:0009871 nephrogenic zone Intermediate segment of the autopod, between the mesopodial region and and acropodial region. Examples: metacarpal region, metatarsal region metacarpal or metatarsal part of limb metacarpus/metatarsus region metapodial segment cannon region equine cannon region metacarpus/metatarsus metapodium metapodium region The collection of all skeletal elements in a mesopodium. Examples: the tarsal skeleton, the carpal skeleton basipodium skeleton carpal/tarsal skeleton mesopodial skeleton mesopodium skeleton skeletal parts of mesopodium basipodium mesopodium mesopodial skeleton EFO:0003704 TAO:0005041 ZFA:0005041 ALPM uberon UBERON:0009881 anterior lateral plate mesoderm An artery that supplies a renal lobe. FMA only has the set term EMAPA:37091 FMA:71637 SCTID:62802007 Wikipedia:Interlobar_arteries arteriae interlobares renis interlobar artery of kidney kidney interlobar artery renal interlobar artery uberon arteriae interlobares renis interlobar arteries of kidney set of interlobar arteries of kidney UBERON:0009885 interlobar artery https://upload.wikimedia.org/wikipedia/commons/7/7e/Kidney_PioM.png The interlobar veins are veins of the renal circulation which drain the renal lobes. FMA only has the set term FMA:71631 Wikipedia:Interlobar_veins interlobar vein of kidney venae interlobares renis uberon interlobar veins of kidney set of interlobar veins of kidney venae interlobares renis UBERON:0009887 interlobar vein https://upload.wikimedia.org/wikipedia/commons/7/7e/Kidney_PioM.png Mesenchyme that is part of a developing face. face mesenchyme mesenchyme of face facial mesenchyme lobulus lobule A portion of an organ, such as the liver, lung, breast, or brain. FMA:45728 NCIT:C13393 UMLS:C0796494 lobus uberon UBERON:0009912 anatomical lobe The portion of a kidney consisting of a renal medullary pyramid and the renal cortex above it[MP]. It is composed of many renal lobules[WP]. todo - add has_part relationships. human kidneys have multilobar (multipyramidal) architecture while mice and rats have unilobar (unipyramidal) kidneys FMA:17881 NCIT:C32894 UMLS:C0736382 Wikipedia:Renal_lobe kidney lobe lobi renalis lobus renalis uberon lobi renales UBERON:0009913 renal lobe https://upload.wikimedia.org/wikipedia/commons/7/7e/Kidney_PioM.png optic neural crest Cranial ectodermal placode with potential to develop into a component of the nervous system, such as nerves or ganglia. neurogenic placodes placodae neurogenicae neurogenic placode An anatomical structure that has more than one cell as a part. CARO:0010000 FBbt:00100313 multicellular structure uberon UBERON:0010000 multicellular anatomical structure A small cluster of cells of various types which form a discrete structure, largely delimited by a morphological boundary and whose components work together to make the whole structure capable of a specific function. cell cluster organ An organ of the digestive tract that is capable of retaining and storing food food storage organ Organ system subdivision that consists primarily of chromaffin cells and their supporting structures. argentaffin system chromaffin tissue chromaffin system An extrahepatic bile duct that has the potential to develop into a common hepatic duct. future common hepatic duct Mesenchyme that has the potential to develop into a dermis. check development EHDAA2:0000598 uberon UBERON:0010083 future dermis A developing anatomical structure that has the potential to develop into a metencephalon. future metencephalon A developing anatomical structure that has the potential to develop into a myelencephalon. future myelencephalon The distal elements of the developing limb of vertebrates that will give rise to the autopod (e.g. manus, pes, paw) autopod plate limb plate embryonic autopod plate any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli neuroendocrine system gland neuroendocrine gland A circumventricular organ that is capable of secreting substances into the cerebrospinal fluid. secretory circumventricular organ An anatomical cavity that surrounded_by a blood vessel. blood vessel lumen lumen of blood vessel A roughly circular bulge in a surface. AEO:0000205 EHDAA2:0003250 FMA:82506 UBERON:0010188 protuberance EHDAA2:0004512 UBERON:0010191 aortic system An anatomical boundary that corresponds to some physical discontinuity. CARO:0001004 uberon UBERON:0010199 One might argue that all boundaries are actually fiat in the sense that there must be some fiat element at a fine enough scale of granularity. This ontology choses to ignore this issue as below the level of granularity relevant to anatomy. (DOS121102) bona-fide anatomical boundary Multi-tissue structure that is part of the heart tube and will become the cardiac atrium. FMA:71005 TAO:0002228 ZFA:0001718 presumptive atrium heart tube primordial atrium primordial cardiac atrium uberon UBERON:0010227 future cardiac atrium The core globe-shaped component of the camera-type eye. bulbus oculi eye globe eyeball eye globe eyeball of camera-type eye Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. basal plate midbrain basal plate midbrain region midbrain basal plate Portion of neural tube that gives rise to the midbrain. midbrain neural tube Developing anatomical structure that develops into the eyeball and associated structures. future eye immature eye An anatomical structure that develops from the neural crest. neural crest-derived structure An anatomical structure that has some part that develops from the neural crest. Grouping term for query purposes uberon UBERON:0010314 structure with developmental contribution from neural crest uberon UBERON:0010316 germ layer / neural crest Skeletal subdivision of the head including skull (cranium plus mandible), pharyngeal and/or hyoid apparatus. cranial skeleton osteocranium cranium cranial skeletal system Mesenchyme that is part of a extraembryonic membrane. extraembryonic membrane mesenchyme A skeletal element that has the potential to participate in endochondral ossification, and may participate in intramembranous ossification. endochondral replacement element endochondral element Skeletal subdivision that undergoes direct development and includes elements that either develop in association with the basement membrane of the ectoderm or are homologous with such elements; includes dermatocranium, components of the appendicular skeleton, teeth and tooth-like elements of the oropharynx, and integumentary elements. exoskeleton dermal skeletal system dermoskeleton desmoskeleton dermal skeleton Skeletal tissue that is part of the exoskeleton and derived from an odontogenic papilla. odontogenic tissue portion of substance of tooth substance of tooth tooth substance dental tissue tooth hard tissue tooth tissue odontoid tissue Epithelium composed of cells that develops from the ectoderm[FMA,modified]. FMA:69064 ectoderm-derived epithelium uberon UBERON:0010371 ecto-epithelium dorsal pancreas pancreas dorsal primordium ventral pancreas pancreas ventral primordium Mesenchyme that develops_from a somatopleure. the way this class is defined also includes extraembryonic mesenchyme such as the amniotic mesenchyme; in future this may be restricted to embryonic derivatives EHDAA2:0001120 uberon UBERON:0010377 mesenchyme from somatopleure The integrated unit (of the eye) that consists of the conjunctiva, the corneal surface, and the ocular mucosal adnexa including the lid margins and the meibomian gland openings, the lacrimal glands and the lacrimal drainage system, all which are critical to maintain ocular surface integrity and provide protection from external antigens and pathogenic microorganisms. eye surface eye surface region ocular surface ocular surface region The ciliary processes are formed by the inward folding of the various layers of the choroid, i.e. , the choroid proper and the lamina basalis, and are received between corresponding foldings of the suspensory ligament of the lens. ciliary processes ciliary processes set processus ciliares set of ciliary processes ciliary process processus ciliares ciliary processes A vessel of the microcirculature, lying between the arterioles and venules; includes capillaries (blood and lymphatic), metarterioles and arteriovenous anastomoses. MESH:D055806 TAO:0005251 ZFA:0005251 uberon microcirculatory vessels UBERON:0010523 microcirculatory vessel different versions of EMAPA have different labels for the same classes. In vHOG this is part of metanephros cortex but this leads to a cycle in basic. EHDAA2:0001143 EHDAA:7007 EHDAA:8105 EMAPA:17953 EMAPA:27621 MA:0002998 VHOG:0001241 induced blastemal cells nephrogenic interstitium of nephrogenic zone uberon cap mesenchyme of metanephros of urinary system nephrogenic interstitium peripheral blastema UBERON:0010531 metanephros induced blastemal cells An epithelial tube that is fated to become a nephron. EHDAA2 treats this as already having a tubular structure, but in the ZFA representation this is a cluster of cells developing nephron primitive nephron future nephron presumptive nephron uberon UBERON:0010532 primitive nephron A primitive nephron that is part of a metanephros. primitive nephron EHDAA2:0001516 developing metanephric nephron primitive metanephric nephron uberon UBERON:0010535 primitive metanephric nephron uberon UBERON:0010536 nephron progenitor An appendage segment that is part of a limb/fin. limb/fin segment paired limb/fin segment The subdivision of the skeleton that consists of all the skeletal elements at the distalmost end of the autopodium - i.e. the bones of the digits or their cartilaginous precursors[VSAO,modified]. acropodial skeleton acropodium skeleton set of phalanges skeletal parts of acropodial region acropodium digital skeleton digits skeleton phalangeal skeleton skeletal parts of acropodium skeleton of digits acropodial skeleton Subdivision of skeleton that corresponds to metapodium region, between acropodial skeleton and mesopdoial skeleton. metacarpal/metatarsal skeleton metapodial skeleton metapodium skeleton skeletal parts of metapodium skeleton of metapodium metapodium metapodial skeleton phalanx pre-cartilage condensation phalanx cartilage condensation phalanx cartilage element Mesenchyme of the digit region. digital ray digit mesenchyme An organism subdivision that includes both an appendage and its associated girdle region. Note that this includes both the skeletal elements and associated tissues (integument, muscle, etc). It is still called a complex when one of the two parts is missing (?) There are fossil fishes with only an outgrowth (no record of a girdle), including thelodonts (which have a suprabranchial fin) as well as some anaspids which have a distinctive 'paired fin' (with differing published assertions on whether it's homologous to a pec fin or pelvic fin or both or neither). There are many fishes and other vertebrates with only a girdle and no outgrowth.[VSAO] Anatomical group that consists of the soft and skeletal tissues of the appendicular region of the body and the appendage proper.[VSAO] It is still called a complex when one of the two parts is missing (?) There are fossil fishes with only an outgrowth (no record of a girdle), including thelodonts (which have a suprabranchial fin) as well as some anaspids which have a distinctive 'paired fin' (with differing published assertions on whether it's homologous to a pec fin or pelvic fin or both or neither). There are many fishes and other vertebrates with only a girdle and no outgrowth.[VSAO] note that the FMA uses the term 'limb' to refer to the entire appendage complex (free limb plus girdle region) 2012-04-23T10:46:51Z EMAPA:37858 FMA:7182 VSAO:0000214 appendage complex appendage-girdle complex appendage/girdle complex girdle plus limb or fin uberon limb UBERON:0010707 appendage girdle complex Appendage girdle complex that when present, encompasses the pectoral appendicular skeleton and the pectoral girdle. Appendage girdle complex that when present, encompasses the pectoral appendage and half of the pectoral girdle.[VSAO] note that the FMA uses the terms 'upper limb' and 'lower limb' to refer to the entire appendage complex (free limb plus girdle region) EMAPA:37860 FMA:7183 SCTID:110716002 VSAO:0000213 pectoral appendage/girdle complex pectoral girdle plus anterior limb or fin pectoral girdle plus pectoral limb or fin uberon upper limb upper limb and pectoral girdle upper limb and shoulder UBERON:0010708 pectoral complex Appendage girdle complex that when present, encompasses the pelvic appendicular skeleton and the pelvic girdle. Appendage girdle complex that when present, encompasses the pelvic appendage and the pelvic girdle.[VSAO] note that the FMA uses the terms 'upper limb' and 'lower limb' to refer to the entire appendage complex (free limb plus girdle region). Note the MA class 'hindlimb' may also belong here EMAPA:37863 FMA:7184 SCTID:416631005 VSAO:0000215 pelvic appendage/girdle complex pelvic girdle plus pelvic limb or fin pelvic girdle plus posterior limb or fin uberon lower limb lower limb and pelvic girdle lower limb and pelvis UBERON:0010709 pelvic complex Skeletal subdivision that is a segment of the limb skeleton. limb skeleton subdivision The subdivision of the skeleton of either the pectoral or pelvic girdle. Skeletal subdivision that is part of the appendage girdle region.[VSAO] relationship type change: subclass skeletal subdivision (VSAO:0000042) CHANGED TO: part_of subdivision of skeleton (UBERON:0010912)[VSAO] relationship type change: subclass skeletal subdivision (VSAO:0000042) CHANGED TO: proximally_connected_to subdivision of skeleton (UBERON:0010912)[VSAO] AAO:0010686 VSAO:0000302 skeleton of girdle uberon UBERON:0010719 girdle skeleton A bone that is part of an appendage girdle complex (i.e. any bone in a limb, fin or girdle). bone of extended limb/fin region limb bone bone of appendage girdle complex The collection of all meningeal layers that line a central nervous system. cerebral meninges cluster of meninges meninges meningeal cluster A major subdivision of an organism that divides an organism along an axis perpedicular to the main body anterior-posterior axis. In vertebrates, this is typically a fin or limb segment. In insects, this includes segments of appendages such as antennae, as well as segments of the insect leg. appendage segment appendicular segment subdivision of organism along appendicular axis A skeletal element that is part of a limb and composed of cartilage tissue. limb cartilage element A skeletal element that is part of a limb and composed of pre-cartilage tissue. limb bone pre-cartilage condensation Anatomical cluster consisting of the skeletal elements (i.e. bone elements, cartilage elements, cartilage condensations) that are part of an individual subdivision of the organism. Excludes joints. Anatomical cluster consisting of the skeletal elements that are part of the skeleton.[VSAO] FMA:23879 SCTID:129140006 VSAO:0000042 skeletal subdivision uberon subdivision of skeleton (in vivo) UBERON:0010912 subdivision of skeleton Any muscle organ that is part of either the head or the neck. muscle of head or neck muscle of head and neck craniocervical muscle A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints. articular cartilage cartilago articularis hyaline cartilage joint-associated cartilage articular cartilage of joint Joint in which the articulating bones or cartilages are connected by ligaments or fibrocartilage without an intervening synovial cavity. Examples: sagittal suture, inferior tibiofibular syndesmosis, costochondral joint, pubic symphysis. FMA:7491 solid joint uberon UBERON:0011134 nonsynovial joint Subdivision of the skeletal system which consists of the axial skeleton plus associated joints. FMA:7483 uberon UBERON:0011137 axial skeletal system http://purl.obolibrary.org/obo/uberon/docs/The-axial-skeleton Subdivision of the skeletal system which consists of the post-cranial axial skeleton plus associated joints. Subdivision of the skeletal system which consists of the postcranial axial skeleton plus associated joints. axial skeletal system FMA:302077 post-cranial axial skeletal system uberon UBERON:0011138 post-cranial axial skeletal system postcranial axial skeletal system http://purl.obolibrary.org/obo/uberon/docs/The-axial-skeleton Any synovial joint that is part of a (free) limb. synovial joint of free limb segment synovial limb joint Subdivision of urinary system which consists of the kidney and the ureters. FMA:45658 NCIT:C61107 SCTID:181413006 galen:UpperUrinaryTract uberon UBERON:0011143 upper urinary tract Subdivision of skull that consists of the facial bones. facial skeleton facial bone ossa facialia ossa faciei viscerocranium facial skeleton The skull can be divided into two: the neurocranium and the facial skeleton skull subdivision subdivision of skull primary subdivision of skull primary subdivision of cranial skeletal system A sphincter muscle that is part of the gastrointestinal system gastrointestinal sphincter A multi cell part structure that is part of a central nervous system. cell part cluster of neuraxis neuraxis layer central nervous system cell part cluster A subdivision of an anatomical system. FBbt:00007330 FMA:67509 SCTID:91690000 uberon UBERON:0011216 organ system subdivision intrinsic muscle of eyeball intrinsic ocular muscle intra-ocular muscle Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints. Skeletal system which consists of the appendicular skeleton plus associated joints.[VSAO] FMA:7484 VHOG:0001666 VSAO:0000306 uberon UBERON:0011249 appendicular skeletal system https://github.com/obophenotype/uberon/wiki/Appendages-and-the-appendicular-skeleton A bone that is part of a autopod region. Note that this incudes the carpal and tarsal bones. autopod bone compare with 'stratum basale of epidermis'. This class is the source for many adult structures - see WP2062. See also: 'enveloping layer of ectoderm' EHDAA2:0001845 uberon basal cell layer of skin outer epithelium of body UBERON:0011272 embryonic skin basal layer A blood vasculature that is part of a head. cranial blood vessel set of blood vessels of head cranial blood vessels cranial blood vasculature The collection of all skeletal elements in an individual limb or fin. limb/fin skeleton skeletal parts of limb/fin skeleton of limb/fin paired limb/fin skeleton Proximal element of a free limb skeleton consisting of the femur and humerus in the forelimb stylopodium and hindlimb stylopodium respectively[VSAO, modified]. stylopodium skeleton mesomere 1 propodial skeleton propodium proximal metapterygial mesomere stylopod stylopodium stylopodial skeleton Section of the forelimb skeleton located between the stylopodium and the autopodium. epipodial skeleton skeleton of zeugopod zeugopod skeleton epipodium mesomere 2 mesomere 2 skeleton zygopodium zeugopodial skeleton Anatomical structure that is an aggregation of similar cells from which cartilages and bones form, and from which chondrogenesis and osteogenesis are initiated during repair and/or regeneration. (Hall and Miyake 1995). consider obsoleting, coordinate with VSAO VSAO:0000006 XAO:0004021 uberon UBERON:0011585 cell condensation Odontogenic tissue that is collagen-rich and characteristic of vertebrate teeth and tooth-like structures (e.g., odontodes) deposited by preodontoblasts and odontoblasts that are typically excluded from the matrix. pre-dentine tissue predentin predentine tissue pre-dentine An axon tract that is part of a diencephalon. diencephalon tract tract of diencephalon A subdivision of the head that corresponds to the jaw skeleton, containing both soft tissue, skeleton and teeth (when present). The jaw region is divided into upper and lower regions. jaw region A major subdivision of an organism that divides an organism along its main body axis (typically anterio-posterior axis). In vertebrates, this is based on the vertebral column. Ideally this would be disjoint with analagous class for appendicular axes, but currently 'appendages' like antennae, horns cause a problem axial subdivision of organism uberon body segment main body segment UBERON:0011676 subdivision of organism along main body axis A cardiovascular system that is part of a conceptus. EHDAA2:0000216 FMA:305965 NCIT:C34148 conceptus cardiovascular system uberon embryonic circulatory system fetal circulatory system UBERON:0011695 embryonic cardiovascular system A nerve that is part of a head. cephalic nerve head nerve nerve of head region Ectodermal placode that does not develop into a component of the nervous system. non-neurogenic ectodermal placode An ectodermal placode that gives rise to any of the cutaneous appendages that protrude from the skin epidermis (heair, feathers, epidermal scales). cutaneous appendage follicle placode skin follicle placode skin appendage placode Connective tissue, which consists of a population of connective tissue cells, the intercellular matrix of which contains an irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, mucoid tissue, connective tissue of peritoneum, connective tissue of fibrous pericardium. FMA:20107 uberon UBERON:0011821 irregular connective tissue Irregular connective tissue is an irregular connective tissue, the intercellular matrix of which contains a dense irregular network of collagen and elastic fiber bundles. Examples: connective tissue of peritoneum, connective tissue of fibrous pericardium. Tissue characterized by a thick, random arrangement of collagen and elastin fibers with very few cells. The majority of the cells are fibroblasts, but mast cells and macrophages may also be seen. It is found in the dermis, periosteum, perichondrium, capsules of organs and sheaths of nerves and muscles[NCIT] FMA:20109 UMLS:C0738366 irregular dense connective tissue typus irregularis (textus connectivus collagenosus compactus) uberon UBERON:0011822 dense irregular connective tissue Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets Dense connective tissue is mainly composed of collagen type I. Crowded between the collagen fibers are rows of fibroblasts, fiber-forming cells, that manufacture the fibers. Dense connective tissue forms strong, rope-like structures such as tendons and ligaments. Tendons attach skeletal muscles to bones; ligaments connect bones to bones at joints. Ligaments are more stretchy and contain more elastic fibers than tendons. Dense connective tissue also make up the lower layers of the skin (dermis), where it is arranged in sheets. our OWL definition states that this is differentiated from other connective tissue types by virtue of the fact that the collage fiber component predominates, as opposed to cells and fluid. Connective tissue in which the fibrous component predominates. The cells, ground substance, and tissue fluid represent a minor component[NCIT] AAO:0000121 NCIT:C32450 UMLS:C1511770 Wikipedia:Dense_connective_tissue uberon UBERON:0011823 dense connective tissue fibrous connective tissue Irregular connective tissue, the intercellular matrix of which contains a sparse irregular network of collagen and elastic fiber bundles. Examples: areolar tissue, neuroglial tissue, mucoid tissue. FMA:19783 UMLS:C1253917 textus connectivus collagenosus laxus textus connectivus laxus uberon UBERON:0011825 loose connective tissue An acinus that is part of a exocrine gland. exocrine gland acinus uberon UBERON:0011858 acinus of exocrine gland the FMA class specifically refers to ureter FMA:63212 MESH:D024022 NCIT:C32339 NIF_Subcellular:sao7547390221 uberon UBERON:0011860 collection of collagen fibrils Front (ventral) portion of the vascular, pigmentary, or middle coat of the eye, including the ciliary body and the iris. Haller tunica vascula anterior part of uveal tract anterior uveal tract anterior vascular layer of the eyeball anterior vascular tunic of the eye tunica vasculosa bulbosa ventral uveal tract ciliary body and iris vasculosa oculi anterior uvea Epimysium is a layer of connective tissue which ensheaths the entire muscle. It is composed of dense irregular connective tissue. It is continuous with fascia and other connective tissue wrappings of muscle including the endomysium, and perimysium. It is also continuous with tendons where it becomes thicker and collagenous. fascia of muscle organ epimysia epimysium An epidermal invagination that has as parts a hair follicle, a sebaceous gland, and arrector pili muscle fabrica pilosebacea pilo-sebaceous apparatus pilo-sebaceous unit pilosebaceous apparatus pilosebaceous gland pilosebaceous unit A region of the stomach that is lined with glandular epithelium. glandular stomach stomach glandular region The aggregate of the coelemic cavity lumen plus the membranes that line the lumen. EHDAA2 distingsuishes between the lumen, the lining, and the 'coelomic cavity', which despire it's name, is not a space - it is the aggregate of space plus lining. coelomic EHDAA2:0004731 Wikipedia:Coelom enterocoelom haemocoelom schizocoelom uberon coelem coelomic cavity UBERON:0011997 coelom segment of autopod A segment of the autopod consisting of both acropodial region and metapodial region, but excluding the mesopodial/basopodial region. acropodium (Wagner) digitopodium region A subdivision of the autopod skeleton consisting of both acropodial skeleon and metapodial skeleton, but excluding the mesopodial/basopodial skeleton. digitopodium skeleton of digits skeleton of digitopodium An artery that originates from the abdominal aorta abdominal artery artery of abdomen abdominal aorta artery An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified] An epithelium that consists of columnar epithelial cells. Columnar epithelia are epithelial cells whose heights are at least four times their width. Columnar epithelia are divided into simple (or unilayered), and the rarer stratified (or multi-layered).[WP, modified]. Wikipedia:Columnar_epithelium uberon UBERON:0012274 columnar epithelium Epithelium that derives from the mesoderm. [Automatically generated definition]. FMA:86452 mesoderm-derived epithelium mesoepithelium uberon UBERON:0012275 meso-epithelium One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly One of the pair of mesenchymal swellings (folds) located on either side of the cloacal membrane during the indifferent stage of embryonic development; cranial to the cloacal membrane the folds unite to form the genital tubercle; caudally the folds are subdivided into urogenital folds anteriorly and anal folds posteriorly. cloacal fold EHDAA2:0004009 uberon UBERON:0012292 We presume this is distinct from AAO:0001003, an external integumentary structure - check with amphibian anatomy ontology developers. AO notes: the text def states mesenchymal swelling, EHDAA2 splits into mesenchymal and epithelial parts embryonic cloacal fold One of five swellings formed during the development of the face embryonic facial process facial primordium primordium of face embryonic facial prominence any exocrine gland whose secretion consists of its own disintegrated secretory cells along with its secretory product; holocrine secretions are produced in the cytoplasm of the cell and released by the rupture of the plasma membrane, which destroys the cell and results in the secretion of the product into the lumen. holocrine gland The segment of the autopod that is distal to the metapodial region and consists of the digits. acropodial limb segment acropodial region acropodial segment of autopod set of digits acropodium region A bone that is part of a the digitopodium skeleton - i.e. the acropodial skeleton or the metapodial skeleton. digit bone digitopodium bone EHDAA2:0004588 uberon UBERON:0012361 internal anal region Blood-forming tissue, consisting of reticular fibers and cells. Bone marrow in humans, kidney interstitium in Danio, within a stroma of reticuloendothelial tissue CALOHA:TS-2142 FMA:14073 NCIT:C13051 UMLS:C0229619 haemopoietic tissue hematopoietic tissue hemopoietic tissue textus haemopoieticus bone marrow tissue uberon UBERON:0012429 hematopoietic tissue The sclera and cornea form the fibrous tunic of the bulb of the eye; the sclera is opaque, and constitutes the posterior five-sixths of the tunic; the cornea is transparent, and forms the anterior sixth. tunica fibrosa fibrous layer of eyeball corneosclera fibrous tunic tunica fibrosa of eyeball An endothelium that is part of a peritubular capillary. peritubular endothelium peritubular capillary endothelium uberon UBERON:0012441 endothelium of peritubular capillary An anatomical space with no opening to another space or to the exterior. closed anatomical space enclosed anatomical space EHDAA2:0004589 uberon UBERON:0012469 external anal region The collection of all skeletal elements in a pectoral complex - i.e. the combination of free limb or fin plus pectoral girdle. FMA:24139 uberon bones of upper limb ossa membri superioris pectoral complex skeleton set of bones of upper limb skeleton of anterior limb/fin and girdle upper limb skeleton UBERON:0012475 skeleton of pectoral complex The collection of all skeletal elements in a pelvic complex - i.e. the combination of free limb or fin plus pelvic girdle. FMA:24140 uberon bones of lower limb lower limb skeleton ossa membri inferioris pelvic complex skeleton set of bones of lower limb skeleton of posterior limb/fin and girdle UBERON:0012476 skeleton of pelvic complex A vein that is part of a abdomen. TODO mirror representation of abdominal aorta this class groups all veins that are in the abdomen. The term 'abdominal vein' may have specific meanings in different contexts. The lateral abdominal veins are present in fishes but usually merged or absent in tetrapods; in amphibians, the L&R abdominal veins merge into the ventral abdominal vein SCTID:281473003 abdominal vein uberon UBERON:0013126 vein of abdomen The secretory unit of a serous gland. The acinar portion is composed of serous secreting cells. FMA:86279 acinus of serous gland uberon UBERON:0013232 serous acinus The precursor of the urethra The precursor of the urethra. In humans, the urethral groove is a temporary linear indentation on the underside (ventral side) of the male penis during embryonic development. It typically appears around 8 weeks of gestation and becomes closed into a normal male urethra by the 12th week SCTID:361531004 Wikipedia:Urethral_groove sulcus urethralis primarius urethral groove urethral sulcus uberon UBERON:0013241 embryonic urethral groove The space that surrounds an organism. external to organism outside of body uberon UBERON:0013514 space surrounding organism A section through the tube or network of tubes that connects the ovaries to the outside of the body. subdivision of oviduct subdivision of uterine tube uterine tube zone zone of uterine tube subdivision of fallopian tube subdivision of oviduct uberon UBERON:0013522 subdivision of tube 2 2 2 An anatomical space which is the lumen of some anatomical conduit and connects two or more spaces together[FMA,modified]. FMA:9338 foramen space uberon UBERON:0013686 anatomical conduit space A principle subdivision of an organism that includes all structures along the primary axis, typically the anterior-posterior axis, from head to tail, including structures of the body proper where present (for example, ribs), but excluding appendages. uberon UBERON:0013701 main body axis The region of the organism associated with the visceral organs. Cardinal body part, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the vertebral column and ribcage. Examples: There is only one body proper[FMA:231424]. AEO:0000103 BTO:0001489 EMAPA:36031 FMA:231424 uberon body whole body UBERON:0013702 body proper Anatomical projection that is part of the integumentl system. skin projection integumentary projection A organ component layer that is part of a integumental system. layer of skin skin layer uberon UBERON:0013754 integumentary system layer A blood that is part of a vein. BTO:0006187 FMA:83067 blood in vein portion of venous blood venous blood uberon UBERON:0013756 venous blood Any of the organs or elements that are part of the digestive system. Examples: tongue, esophagus, spleen, crop, lunge feeding organ, tooth elements. EMAPA:37843 SCTID:272627002 digestive organ digestive system organ uberon UBERON:0013765 digestive system element Great vessels is a term used to refer collectively to the large vessels that bring blood to and from the heart. great vessel EMAPA:36460 SCTID:304066000 Wikipedia:Great_vessels great vessel of thorax uberon UBERON:0013768 Groupings may vary - typically pulmonary vessels and aorta and vena cavae great vessel of heart Mesenchyme that develops_from the neural crest[Automatically generated definition]. mesenchyme from neural crest neural crest derived mesenchyme neural crest mesenchyme mesenchyme derived from neural crest Any member of the network of tubes that return blood from the renal tissues to the systemic circulation. we follow MA and MP in distinguishing the venous blood vessel from the vein. The kidney cortex vein is not considered a renal vein, nor is the vasa recta EMAPA:31450 MA:0002591 kidney venous blood vessel venous blood vessel of kidney uberon kidney venous system UBERON:0014401 renal venous blood vessel Subdivision of skeletal system that consists of all skeletal elements in the thoracic region of the trunk. In most vertebrates this is the rib cage and sternum. EHDAA2:0002013 FMA:77169 Wikipedia:Thoracic_skeleton skeleton of thorax thoracic part of axial skeleton thoracic skeleton uberon UBERON:0014477 thoracic skeleton A duct that is located between lobules, within the thin connective tissue septa that separate lobules. All interlobular ducts are excretory. interlobular duct A duct that is located within a lobule, with no more connective tissue intervening between ducts and secretory units (i.e., acini or tubules) than between adjacent secretory units. Intercalated and striated ducts are intralobular intralobular ductule intralobular duct A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles). skeletal muscle skeletal muscle organ A portion of tissue that will develop into vasculature. EFO:0003708 TAO:0005076 ZFA:0005076 uberon UBERON:0014903 primordial vasculature A phalanx bone or its cartilage or pre-cartilage precursor. phalanx skeletal element phalanx element phalanx endochondral element A limb bone or its cartilage or pre-cartilage precursor. limb bone skeletal element limb bone endochondral element limb endochondral element A endochondral element that is part of a autopod region. autopod endochondral element A autopod endochondral element that is composed primarily of cartilage tissue. autopod cartilage An anatomical group whose component structures share a common function. AEO:0000093 FBbt:00007278 uberon UBERON:0015203 non-connected functional system A non-connected functional system that is composed primarily of a gland. EHDAA2:0002223 uberon UBERON:0015204 glandular system Any structure that is placed on one side of the left-right axis of a bilaterian. This class is primarily to implement taxon constraints. It may be removed in the future. uberon UBERON:0015212 lateral structure A hollow, muscular organ, which, by contracting rhythmically, contributes to the circulation of lymph, blood or analogs. Examples: a chambered vertebrate heart; the tubular peristaltic heart of ascidians; the dorsal vessel of an insect; the lymoh heart of a reptile. heart SPD:0000130 cardiac pump heart or heart like organ circulatory vessel uberon cardiac structure UBERON:0015228 circulatory organ EMAPA:37597 MA:0002449 heart/pericardium uberon UBERON:0015410 heart plus pericardium FMA:62798 portion of heterogeneous tissue uberon UBERON:0015757 heterogeneous tissue A epithelium that is part of a camera-type eye. eye epithelium A epithelium that is part of a foregut. An epithelium that is part of a foregut. EMAPA:32922 MA:0003204 uberon UBERON:0015833 foregut epithelium is the sensory system for the sense of hearing. auditory system An roughly circular indentation in a surface. AEO:0000204 uberon UBERON:0016566 pit Primordium that develops into the central nervous system Primordium that develops into the central nervous system. UBERON:3000469 future CNS presumptive central nervous system uberon UBERON:0016879 future central nervous system Primordium that develops into the nervous system Primordium that develops into the nervous system. UBERON:3000477 AAO:0000477 presumptive nervous system uberon UBERON:0016880 future nervous system The part of the conceptus that may be lost before birth or will be discarded at birth, or when the embryo becomes an independent organism. AEO:0000195 EHDAA2:0000003 EMAPA:16042 extra-embryonic component extraembryonic component uberon UBERON:0016887 entire extraembryonic component An embryonic anatomical entity that will turn into one or more other anatomical entities, perhaps with other anatomical entities, later in development. AEO:0000132 uberon UBERON:0016888 transitional anatomical structure A mesenchyme-derived anatomical entity undergoing a transtion to become another structure. AEO:0001016 uberon UBERON:0017650 developing mesenchymal structure A viscus that is part of a abdomen. abdominal viscera abdominal viscera set set of abdominal viscera abdominal viscera skeletal musculature An interconnected tubular multi-tissue structure that contains fluid that is actively transported around the heart. cardiac vasculature heart vasculature A mammalian developmental stage that covers the period from birth until weaning. suckling stage uberon UBERON:0018685 nursing stage A membranous sac in animals that serves as the receptacle of a liquid or contains gas. BTO:0000123 bladder uberon UBERON:0018707 bladder organ The part of the eye that consists of both the retina and the optic choroid chorioretina choroid and retina retinachoroid retinachoroidal region chorioretinal region A white matter that is part of the forebrain. white matter of forebrain gray matter of midbrain sensory organ epithelium An exocrine gland that is part of a integumental system. integumental exocrine gland integumental system exocrine gland exocrine gland of integumental system surface of region of wall of eyeball surface of eyeball Single layer of a laminar structure, identified by different density, arrangement or size of cells and processes arranged in flattened layers or lamina[CUMBO]. lamina layer nervous system cell part layer An embryonic or larval epithelium that is committed to form part of the nervous system. neurepithelium embryonic neuroepithelium neuroepithelium developing neuroepithelium An epithelium that is undergoing proliferation to provide large numbers of neuronal cells. proliferating neuroepithelium A neuroepithelium some of whose cells are undergoing terminal differentiation to become neuronal cells. differentiating neuroepithelium Any of the cranial nerves, or their central nervous system analogs (the optic tract, the epiphyseal tract). These analogs are not true nerves, and are instead evaginated sensory afferents emanating from the brain cranial nerve fiber bundle cranial nerve fiber tract cranial nerve or tract neuron projection bundle from brain cranial neuron projection bundle A part of an organism or organ that is continuous with its surroundings and distinguished from its surroundings based on morphology. morphological feature FMA:79770 NCIT:C41168 uberon UBERON:0034769 lymphomyeloid tissue Any substance in the body or expelled from the body that is in a gaseous state. gas in anatomical space portion of gas in anatomical space bodily gas Any portion of gas located in a part of the respiratory system that is composed primarily of air. respiratory air respiratory system air air in respiratory system pituitary primordium future pituitary gland the area of axial mesoderm that develops into the prechordal plate prechordal mesenchyme prechordal mesoderm Nursing stage that follows the neonate stage in mammals and ends at weaning. uberon UBERON:0034920 infant stage An multicellular anatomical structure that has subparts of multiple organs as a part. CARO:0020001 uberon anatomical cluster UBERON:0034921 multi organ part structure A cluster of cells, largely surrounded by a morphological boundary. CARO:0020002 FMA:62807 uberon UBERON:0034922 cell cluster 2 Material anatomical entity consisting of multiple anatomical structures that are not connected to each other. CARO:0020000 FBbt:00007276 uberon UBERON:0034923 disconnected anatomical group A collection of anatomical structures that are alike in terms of their morphology or developmental origin. resolve if this should be a subclass of disconnected anatomical group. Some collections (e.g. the skeleton or skull) are arguably connected uberon UBERON:0034925 anatomical collection A region or zone on the surface of an organism that encompasses skin and any adnexa, down through muscles and bounded by underlying skeletal support structures. external soft tissue zone The epithelial layer covering the biliary system. This includes the epithelium of the gallbladder (when present) as well as the intrahepatic and extrahepatic bile ducts. biliary system epithelium biliary epithelium biliary tract epithelium epithelium of biliary system FMA:55268 organ sector organ zonal region organ zone uberon organ region with floating fiat boundary UBERON:0034944 zone of organ Any portion of gas located in a part of the respiratory system. respiratory gas respiratory system gas gas in respiratory system NCIT:C25787 UMLS:C1512086 uberon duct epithelium ductal epithelium UBERON:0034969 epithelial layer of duct EMAPA:28322 loop of Henle, outer medullary portion uberon UBERON:0034996 outer renal medulla loop of Henle EMAPA:35460 loop of Henle of renal medulla loop of Henle, medullary portion uberon UBERON:0034997 renal medulla loop of Henle excretory duct The part of the circulatory system that lies within the subcutaneous tissue layers close to the surface of the skin. superficial part of circulatory system superficial vasculature dermis vasculature hypodermis vasculature skin vasculature subcutaneous vasculature vasculature of skin vasculature of integument Any chamber of the left side of the heart left cardiac chamber Any chamber of the right side of the heart. FMA:7165 SCTID:362007002 uberon UBERON:0035554 right cardiac chamber The parts of the orbital region that are outside of the the eyeball, including the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva adnexa oculi accessory parts of orbital region accessory visual structures accessory visual structures set adnexal parts of orbital region appendage of eye appendages of the eye eye adnexa set of accessory visual structures structurae oculi accessoriae ocular adnexa The primordial mouth region of the developing head. FMA:293105 primitive mouth primordial mouth uberon UBERON:0035804 future mouth The part of the ventral body cavity that is within the abdominal segment of the trunk, which encompasses the abdomen proper plus pelvic cavity. cavitas abdominis et pelvis abdominopelvic cavity blood vessel wall vascular wall wall of blood vessel An region of the mesoderm that includes anterior lateral mesoderm of the first heart field plus contiguous pharyngeal mesoderm that gives rise to second-heart-field-derived regions of the heart and branchiomeric muscles. uberon UBERON:0036146 cardiopharyngeal field An organ subunit in the skin that gives rise to cutaneous appendage. follicle cutaneous appendage follicle skin follicle skin appendage follicle Material anatomical entity that forms the outermost boundary of an anatomical structure. AAO:0010270 ZFA:0005594 uberon UBERON:0036215 anatomical surface region Any gland that is part os the respiratory system. uberon UBERON:0036225 respiratory system gland The upper tract of the renal system. The renal pelvis is the large cavity in the middle of each kidney. Urine drains from each kidney through a long tube called the ureter, into the bladder, where it is stored until it is passed from the body through the urethra. NCIT:C54419 renal pelvis and ureter renal pelvis plus ureter uberon UBERON:0036295 renal pelvis/ureter vasculature of central nervous system plus retina vasculature of central nervous system myoseptum Non neural ectoderm that surrounds the presumptive neural plate and gives rise to neurogenic placodes. preplacodal ectoderm Structures of the dermis, epidermis, glands and pigment cells recognizable on the external surfaces of the integument. This class was sourced from an external ontology (amphibian_anatomy). Its definitions, naming conventions and relationships may need to be checked for compatibility with uberon amphibian_anatomy_curators uberon/phenoscape-anatomy external integument structure Skeletal tissue that is mineralized. mineralized tissue mineralized skeletal tissue A subdivision of the autopod consisting of digit plus the region incorporating a single metapodial element. These segments are typically repeated along the pre-axiom to post-axial axis. digit digit ( phalanges plus metapodial) plus soft tissue digit digitopodial subdivision digit ray digit plus metapodial segment A subdivision of the skeleton of the autopod consisting of the phalanges of a single digit plus the associated metapodial element. digit digit skeleton individual digit of digitopodial skeleton Any of the smallest blood vessels where blood circulates within organ tissues. Microvessels include terminal arterioles, metarterioles, capillaries, and venules (but exclude lymphatic capillaries). Arterioles carry oxygenated blood to the capillaries, and blood flows out of the capillaries through venules into veins. microvascular http://orcid.org/0000-0002-2825-0621 microvasculature microvessel uberon UBERON:8410081 blood microvessel https://github.com/obophenotype/uberon/issues/2186 An anatomical system that eliminates waste products that arise as a result of metabolic activity. http://orcid.org/0000-0002-6095-8718 2022-05-25T18:21:29Z BTO:0006338 uberon UBERON:8450002 excretory system A muscle tissue that is associated with soft internal organs (viscera). 2023-02-16T10:17:46Z visceral muscle uberon UBERON:8600004 It is quite common to refer to visceral muscles as smooth muscles, by analogy with vertebrates; however, most visceral muscles in arthropods are actually striated. visceral muscle tissue time unit A unit which is a standard measure of the dimension in which events occur in sequence. time unit phenotype A vaccine is a processed material with the function that when administered, it prevents or ameliorates a disorder in a target organism by inducing or modifying adaptive immune responses specific to the antigens in the vaccine. Many vaccines are developed to protect against infectious pathogens that causes infectious diseases. Many vaccines are also being developed against other diseases such as cancer, allergy, and autoimmune diseases. YH, BP, BS, MC, LC, XZ, RS a role that inheres in a prepared material entity that is designed to induce protection or treament for a diease or infection in vivo. vaccine MeSH: D014612 a medical intervention that involves in adding vaccine into a host (e.g., human, mouse) in vivo with the intent to invoke an adaptive immune response. a process of administering substance in vivo that involves in adding a vaccine into a host (e.g., human) in vivo with the intent to invoke a protective or therapeutic adaptive immune response. YH, BP vaccine administration vaccination a vaccine adjuvant that is formed as a mineral salt. SGS, YH mineral salt vaccine adjuvant CVX: 119 an adjuvant role that inheres in a vaccine component which is added as part of a vaccine and induces enhanced adaptive immune response to the vaccine antigen. YH The Latin "adjuvans" means to help, particularly to reach a goal. Adjuvant therapy for cancer is surgery followed by chemotherapy or radiation to help decrease the risk of the cancer recurring (coming back). An adjuvant is a substance that helps and enhances the pharmacological effect of a drug or increases the ability of an antigen to stimulate the immune system. vaccine adjuvant role A vaccine that targets against a bacterial disease. YH bacterial vaccine MeSH: D001428 a processed material that is output of the vaccine preparation and part of a vaccine. YH cardinal part of vaccine vaccine ingredient vaccine component vaccine function is a function that inheres in a vaccine that induces protective immune response against a disease. It is realized in the immunization process in the host. PERSPN: Oliver He: There has been hot discussion about whether we use 'vaccine function' or 'vaccine role'. Vaccine role may not be the good term to use. Vaccine is designed to be 'vaccine', so it should be vaccine function. One special case is cowpox virus. The cowpox virus can be mixed with some liquid like water and used as a smallpox vaccine. In this case, people often say: the cowpox virus has a 'vaccine role'. However, the cowpox virus vaccine is a processed material of a mix of the virus with water. The virus is a virus, it is not a vaccine per se. Therefore, vaccine role may not be an accurate term. YH, MC, XZ, and AR vaccine function YH https://en.wikipedia.org/wiki/Company A legal organization that represents an association of people with a specific objective. company a route of administration that inject the material(such as vaccines, allergens) directly into a muscle. YH,YL intramuscular injection route I.M. intramuscular route YL,YH Page 73, Chapter 6, Vaccine, 5th Edition. EXPERT CONSULT by Plotkin SA., et. al. 2008 a role inheres in a material entity, that has been added into a vaccine's formulation by the manufacture for a specific purpose. For example: adjuvant to enhance the effect of immunogen, perservatives, stablizers and those materials added for affecting PH and isotonicity. vaccine additive role preventive vaccine function is a vaccine function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which protects against a specific disorder. YH prophylactic vaccine function preventive vaccine function immunization is a processual entity that primes or modifies an adaptivie immune response to some antigens. YH, XZ, BP WEB: http://en.wikipedia.org/wiki/Immunization immunization Active immunization is an immunization process that entails the introduction of a foreign molecule into the body, which causes the body itself to generate adaptive immunity against the target. YH, XZ WEB: http://en.wikipedia.org/wiki/Immunization Active immunization entails the introduction of a foreign molecule into the body, which causes the body itself to generate immunity against the target. This immunity comes from the T cells and the B cells with their antibodies. Active immunization can occur naturally when a person comes in contact with, for example, a microbe. If the person has not yet come into contact with the microbe and has no pre-made antibodies for defense (like in passive immunization), the person becomes immunized. The immune system will eventually create antibodies and other defenses against the microbe. The next time, the immune response against this microbe can be very efficient; this is the case in many of the childhood infections that a person only contracts once, but then is immune. Artificial active immunization is where the microbe, or parts of it, are injected into the person before they are able to take it in naturally. If whole microbes are used, they are pre-treated, Attenuated vaccine. (Wikipedia) active immunization artificial active immunization is an active immunization that occurs when a person or animal is vaccinated with a specific vaccine. YH, XZ artificial active immunization WEB: http://en.wikipedia.org/wiki/Immunization vaccine immunization induction of adaptive immune response to antigen is an active immunization process that results in induction of adaptive immune response to some antigens, for example, in a vaccine. YH, XZ induction of adaptive immune response to antigen disorder prevention is a processual entity that prevents a disorder that is the physical basis of a disease. YH, XZ disorder prevention disorder treatment is a processual entity that leads to treat a disorder that is the physical basis of a disease. YH, XZ disorder treatment modification of adaptive immune response to antigen is an active immunization process that results in modification of an adaptive immune response to some antigens, for example, in a therapeutic vaccine. YH, XZ modification of adaptive immune response to antigen The therapeutic vaccine function is a function realized by the process of vaccination and leading to induction of an adaptive immune response to the antigens in a vaccine, which ameliorates a specific disorder. YH therapeutic vaccine function a path that is located in gross anatomical part of an organism (e.g., human) and is used for administering a vaccine, a drug, fluid, poison, or other substance into the body. CDISC has a codelist: Rout of Administration. Desription from CDISC: The course by which a substance was administered in order to reach the site of action in the body. CDISC_SDTM_Route_of_Administration_Terminology YH,YL http://en.wikipedia.org/wiki/Route_of_administration route of administration http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C38114 http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C66729 a vaccine component that is chemical substance added to vaccine and enhance and direct immune response to protective antigen. Many of vaccine adjuvants cause a range of serious side-effects. YH vaccine adjuvant immunization objective is the specification of an objective to achieve immunization. YH, XZ WEB: http://en.wikipedia.org/wiki/Immunization immunization objective vaccine preparation is a manufacturing process to produce a vaccine. YH, BP vaccine generation vaccine production vaccine preparation A vaccine that targets against a viral disease. YH viral vaccine MeSH: D014765 YH a role that inheres in a prepared material entity that is designed to induce protection or treatment for a disease or infection. vaccine role YH a role that inheres in a material entity that becomes an ingredient of a vaccine. vaccine component role licensed vaccine role is a regulation-assigned role that indicates that a vaccine obtains official approval for commercial production and selling on the market. YH licensed vaccine role A bacterial vaccine that protects against infection with Clostridium spp. YH https://en.wikipedia.org/wiki/Clostridium Clostridium vaccine a Clostridium vaccine that protects against infection with Clostridium tetani that causes tenanus. Oliver He, Kallan Roan Tetanus toxoid vaccine tetanus vaccine https://vaccine-safety-training.org/tetanus-vaccine-example.html Clostridium tetani vaccine A viral vaccine that protects against infection with Hepatitis B virus. YH https://en.wikipedia.org/wiki/Hepatitis_B_vaccine Hepatitis B virus vaccine MeSH: D017325 YH vaccine allergen disposition a vaccine role that indicates the vaccine being a toxoid vaccine. YH toxoid vaccine role a licensed vaccine role that indicates the vaccine occurs in USA. YH USA licensed vaccine role a vaccine component that remains from the vaccine manufacturing process. Although no all manufacturing residuals may be identified and quantified, their presence and quantity is assumed to be constant because of the constancy of the manufacturing process. YH Finn TM and Egan W, in Vaccines fifth edition, 2008. Page 73. vaccine residual a vaccine residual that is generatead from cell culture for vaccine preparation. Examples include: antibiotics, sensitizing substances, bacterial and cellular residuals, and adventitious agents. YH Finn TM and Egan W, in Vaccines fifth edition, 2008. Page 78-81. cell culture residual in vaccine a licensed status that occurs in Canada. YH Canada licensed vaccine role a mineral salt vaccine adjuvant that is composed of aluminum salt. Aluminum vaccine adjuvant is a vaccine adjuvant that is composed of some aluminum compound. YH aluminum vaccine adjuvant vaccine allergen is a material entity that is capable of stimulating a type-I hypersensitivity reaction in atopic individuals who has been vaccinated with a vaccine. YH, ZX WEB: http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/appendices/B/excipient-table-2.pdf vaccine allergen YH, ZX latex vaccine allergen a cell culture residual in vaccine that is yeast protein. YH yeast protein cell culture residual in vaccine a vaccination that occurs in the intramuscular route. YH, YL intramuscular vaccination a role of host that contains vaccine. It is a role that inheres in an organism that is the target of a vaccine administration (vaccination process). YH, ZX vaccine host role The objective that intends to produce vaccine via the vaccine preparation process. YH vaccine target specification Kallan Roan, Oliver He https://www.fda.gov/BiologicsBloodVaccines/Vaccines/ApprovedProducts/ucm110098.htm todo: Recombinant protein RECOMBIVAX HB Hepatitis B Vaccine (Recombinant) Merck & Co, Inc RECOMBIVAX HB is indicated for vaccination against infection caused by all known subtypes of hepatitis B virus. https://www.fda.gov/downloads/BiologicsBloodVaccines/Vaccines/ApprovedProducts/UCM110114.pdf BL 101066 Recombivax HB CVX: 08 CVX: 43 CVX: 44 A protein coding gene RGS6 in human. gene HGNC:10002 Category=external. RGS6 (human) A protein coding gene ROBO2 in human. gene HGNC:10250 Category=external. ROBO2 (human) A protein coding gene SCN2A in human. gene HGNC:10588 Category=external. SCN2A (human) A protein coding gene CCL2 in human. gene HGNC:10618 Category=external. CCL2 (human) A protein coding gene CXCL10 in human. gene HGNC:10637 Category=external. CXCL10 (human) A protein coding gene SYT1 in human. gene HGNC:11509 Category=external. SYT1 (human) A protein coding gene TF in human. gene HGNC:11740 Category=external. TF (human) A protein coding gene TNF in human. gene HGNC:11892 Category=external. TNF (human) A protein coding gene TNFRSF1A in human. gene HGNC:11916 Category=external. TNFRSF1A (human) A protein coding gene TNFRSF1B in human. gene HGNC:11917 Category=external. TNFRSF1B (human) A protein coding gene UMOD in human. gene HGNC:12559 Category=external. UMOD (human) A protein coding gene VCAM1 in human. gene HGNC:12663 Category=external. VCAM1 (human) A protein coding gene VEGFA in human. gene HGNC:12680 Category=external. VEGFA (human) A protein coding gene VWF in human. gene HGNC:12726 Category=external. VWF (human) A protein coding gene ADIPOQ in human. gene HGNC:13633 Category=external. ADIPOQ (human) A protein coding gene CASR in human. gene HGNC:1514 Category=external. CASR (human) A protein coding gene ALDH1A2 in human. gene HGNC:15472 Category=external. ALDH1A2 (human) A protein coding gene LDB3 in human. gene HGNC:15710 Category=external. LDB3 (human) A protein coding gene TLDC2 in human. gene HGNC:16112 Category=external. TLDC2 (human) A protein coding gene SLC4A11 in human. gene HGNC:16438 Category=external. SLC4A11 (human) A protein coding gene HAVCR1 in human. gene HGNC:17866 Category=external. HAVCR1 (human) A protein coding gene SOX17 in human. gene HGNC:18122 Category=external. SOX17 (human) A protein coding gene MOGAT1 in human. gene HGNC:18210 Category=external. MOGAT1 (human) A protein coding gene FEV in human. gene HGNC:18562 Category=external. FEV (human) A protein coding gene VSX2 in human. gene HGNC:1975 Category=external. VSX2 (human) A protein coding gene SULF1 in human. gene HGNC:20391 Category=external. SULF1 (human) A protein coding gene COL16A1 in human. gene HGNC:2193 Category=external. COL16A1 (human) A protein coding gene COL4A1 in human. gene HGNC:2202 Category=external. COL4A1 (human) A protein coding gene COL5A1 in human. gene HGNC:2209 Category=external. COL5A1 (human) A protein coding gene CPE in human. gene HGNC:2303 Category=external. CPE (human) A protein coding gene NTNG1 in human. gene HGNC:23319 Category=external. NTNG1 (human) A protein coding gene ADCY3 in human. gene HGNC:234 Category=external. ADCY3 (human) A protein coding gene SLC35F3 in human. gene HGNC:23616 Category=external. SLC35F3 (human) A protein coding gene CLMP in human. gene HGNC:24039 Category=external. CLMP (human) A protein coding gene CSF2RA in human. gene HGNC:2435 Category=external. CSF2RA (human) A protein coding gene CST3 in human. gene HGNC:2475 Category=external. CST3 (human) A protein coding gene CCN2 in human. gene HGNC:2500 Category=external. CCN2 (human) A protein coding gene MCTP1 in human. gene HGNC:26183 Category=external. MCTP1 (human) A protein coding gene CCDC102B in human. gene HGNC:26295 Category=external. CCDC102B (human) A protein coding gene ADRA1A in human. gene HGNC:277 Category=external. ADRA1A (human) A protein coding gene SLC44A5 in human. gene HGNC:28524 Category=external. SLC44A5 (human) A protein coding gene EGF in human. gene HGNC:3229 Category=external. EGF (human) A protein coding gene AGT in human. gene HGNC:333 Category=external. AGT (human) A protein coding gene FABP1 in human. gene HGNC:3555 Category=external. FABP1 (human) A protein coding gene FGF23 in human. gene HGNC:3680 Category=external. FGF23 (human) A protein coding gene GH1 in human. gene HGNC:4261 Category=external. GH1 (human) A protein coding gene GPM6A in human. gene HGNC:4460 Category=external. GPM6A (human) A protein coding gene AMBP in human. gene HGNC:453 Category=external. AMBP (human) A protein coding gene GPX2 in human. gene HGNC:4554 Category=external. GPX2 (human) A protein coding gene GRN in human. gene HGNC:4601 Category=external. GRN (human) A protein coding gene HIF1A in human. gene HGNC:4910 Category=external. HIF1A (human) A protein coding gene HLA-DRB1 in human. gene HGNC:4948 Category=external. HLA-DRB1 (human) A protein coding gene HP in human. gene HGNC:5141 Category=external. HP (human) A protein coding gene TNC in human. gene HGNC:5318 Category=external. TNC (human) A protein coding gene ID1 in human. gene HGNC:5360 Category=external. ID1 (human) A protein coding gene IFNG in human. gene HGNC:5438 Category=external. IFNG (human) A protein coding gene IGF1 in human. gene HGNC:5464 Category=external. IGF1 (human) A protein coding gene JCHAIN in human. gene HGNC:5713 Category=external. JCHAIN (human) A protein coding gene IL10 in human. gene HGNC:5962 Category=external. IL10 (human) A protein coding gene IL6 in human. gene HGNC:6018 Category=external. IL6 (human) A protein coding gene CXCL8 in human. gene HGNC:6025 Category=external. CXCL8 (human) A protein coding gene KCNK2 in human. gene HGNC:6277 Category=external. KCNK2 (human) A protein coding gene KL in human. gene HGNC:6344 Category=external. KL (human) A protein coding gene KRT5 in human. gene HGNC:6442 Category=external. KRT5 (human) A protein coding gene LCN2 in human. gene HGNC:6526 Category=external. LCN2 (human) A protein coding gene MMP2 in human. gene HGNC:7166 Category=external. MMP2 (human) A protein coding gene MMP7 in human. gene HGNC:7174 Category=external. MMP7 (human) A protein coding gene MSR1 in human. gene HGNC:7376 Category=external. MSR1 (human) A protein coding gene NAGLU in human. gene HGNC:7632 Category=external. NAGLU (human) A protein coding gene NPHS1 in human. gene HGNC:7908 Category=external. NPHS1 (human) A protein coding gene NPPB in human. gene HGNC:7940 Category=external. NPPB (human) A protein coding gene NR2F2 in human. gene HGNC:7976 Category=external. NR2F2 (human) A protein coding gene NXPH2 in human. gene HGNC:8076 Category=external. NXPH2 (human) A protein coding gene PRODH in human. gene HGNC:9453 Category=external. PRODH (human) A protein coding gene PROX1 in human. gene HGNC:9459 Category=external. PROX1 (human) A protein coding gene RAMP3 in human. gene HGNC:9845 Category=external. RAMP3 (human) A protein coding gene RAP1GAP in human. gene HGNC:9858 Category=external. RAP1GAP (human) A protein coding gene RBP4 in human. gene HGNC:9922 Category=external. RBP4 (human) GAZ GAZ:00000464 Europe Part of the landmass of Eurasia, with the western portion of the latter occupied by Europe, lying east of the Suez Canal, east of the Ural Mountains, and south of the Caucasus Mountains and the Caspian and Black Seas. It is bounded on the east by the Pacific Ocean, on the south by the Indian Ocean, and on the north by the Arctic Ocean. GAZ GAZ:00000465 Asia GAZ GAZ:00002471 East Asia A sovereign island country located off the northwestern coast of mainland Europe comprising of the four constituent countries; England, Scotland, Wales and Northern Ireland. It comprises the island of Great Britain, the northeast part of the island of Ireland and many small islands. Apart from Northern Ireland the UK is surrounded by the Atlantic Ocean, the North Sea, the English Channel and the Irish Sea. The largest island, Great Britain, is linked to France by the Channel Tunnel. ISO3166-1:826 ISO3166-1:GB ISO3166-1:GBR ISO3166-2:GB Britain G.B GB U.K. {abbrevation} UK United Kingdom of Great Britain and Northern Ireland GAZ GAZ:00002637 United Kingdom An island country in East Asia. Located in the Pacific Ocean, it lies to the east of China, Korea and Russia, stretching from the Sea of Okhotsk in the north to the East China Sea in the south. Nippon-koku GAZ GAZ:00002747 Japan A large country in Northeast Asia. China borders 14 nations (counted clockwise from south): Vietnam, Laos, Burma, India, Bhutan, Nepal, Pakistan, Afghanistan, Tajikistan, Kyrgyzstan, Kazakhstan, Russia, Mongolia and North Korea. Additionally the border between PRC and ROC is located in territorial waters. The People's Republic of China has administrative control over twenty-two provinces and considers Taiwan to be its twenty-third province. There are also five autonomous regions, each with a designated minority group; four municipalities; and two Special Administrative Regions that enjoy considerable autonomy. The People's Republic of China administers 33 province-level regions, 333 prefecture-level regions, 2,862 county-level regions, 41,636 township-level regions, and several village-level regions. People's Republic of China Zhonghua Renmin Gongheguo GAZ GAZ:00002845 China GAZ GAZ:00002846 Northeast Asia A group of islands off the northwest coast of continental Europe that include the islands of Great Britain and Ireland, and over six thousand smaller islands. There are two sovereign states located on the islands: the United Kingdom and the Republic of Ireland. The British Isles also include two dependencies of the United Kingdom: the Isle of Man and, by tradition, the Channel Islands, although the latter are not physically a part of the island group. michaelashburner 2010-05-16T10:11:46Z GAZ GAZ:00281547 British Isles example to be eventually removed example to be eventually removed metadata complete Class has all its metadata, but is either not guaranteed to be in its final location in the asserted IS_A hierarchy or refers to another class that is not complete. metadata complete organizational term Term created to ease viewing/sort terms for development purpose, and will not be included in a release term created to ease viewing/sort terms for development purpose, and will not be included in a release PERSON:Alan Ruttenberg organizational term ready for release Class has undergone final review, is ready for use, and will be included in the next release. Any class lacking "ready_for_release" should be considered likely to change place in hierarchy, have its definition refined, or be obsoleted in the next release. Those classes deemed "ready_for_release" will also derived from a chain of ancestor classes that are also "ready_for_release." ready for release metadata incomplete Class is being worked on; however, the metadata (including definition) are not complete or sufficiently clear to the branch editors. metadata incomplete uncurated Nothing done yet beyond assigning a unique class ID and proposing a preferred term. uncurated pending final vetting All definitions, placement in the asserted IS_A hierarchy and required minimal metadata are complete. The class is awaiting a final review by someone other than the term editor. pending final vetting to be replaced with external ontology term Terms with this status should eventually replaced with a term from another ontology. Alan Ruttenberg group:OBI to be replaced with external ontology term requires discussion A term that is metadata complete, has been reviewed, and problems have been identified that require discussion before release. Such a term requires editor note(s) to identify the outstanding issues. Alan Ruttenberg group:OBI requires discussion Illumina Philippe Rocca-Serra Illumina KPMP organization participant candidate 1 participant candidate 2 participant candidate 3 filled CRF by candidate 1 filled CRF by candidate 2 filled CRF by candidate 3 European Union Drug Regulating Authorities Clinical Trials https://en.wikipedia.org/wiki/EudraCT EudraCT ClinicalTrials.gov is a resource provided by the U.S. National Library of Medicine. https://clinicaltrials.gov/ Clinicaltrials.gov SDY269 study SDY269 human subject SUB112829 ## Elucidation This is used when the statement/axiom is assumed to hold true 'eternally' ## How to interpret (informal) First the "atemporal" FOL is derived from the OWL using the standard interpretation. This axiom is temporalized by embedding the axiom within a for-all-times quantified sentence. The t argument is added to all instantiation predicates and predicates that use this relation. ## Example Class: nucleus SubClassOf: part_of some cell forall t : forall n : instance_of(n,Nucleus,t) implies exists c : instance_of(c,Cell,t) part_of(n,c,t) ## Notes This interpretation is *not* the same as an at-all-times relation axiom holds for all times YH, ZX http://www.merckfrosst.ca/ Merck Frosst en Adam Goldstein Alan Ruttenberg Albert Goldfain Barry Smith Bjoern Peters Carlo Torniai Chris Mungall Chris Stoeckert Christian A. Boelling Darren Natale David Osumi-Sutherland Gwen Frishkoff Holger Stenzhorn James A. Overton James Malone Jennifer Fostel Jie Zheng Jonathan Rees Larisa Soldatova Lawrence Hunter Mathias Brochhausen Matt Brush Melanie Courtot Michel Dumontier Paolo Ciccarese Pat Hayes Philippe Rocca-Serra Randy Dipert Ron Rudnicki Satya Sahoo Sivaram Arabandi Werner Ceusters William Duncan William Hogan Yongqun (Oliver) He http://creativecommons.org/licenses/by/4.0/ An information artifact is, loosely, a dependent continuant or its bearer that is created as the result of one or more intentional processes. Examples: uniprot, the english language, the contents of this document or a printout of it, the temperature measurements from a weather balloon. For more information, see the project home page at https://github.com/information-artifact-ontology/IAO IDs allocated to related efforts: PNO: IAO_0020000-IAO_0020999, D_ACTS: IAO_0021000-IAO_0021999 IDs allocated to subdomains of IAO. pno.owl: IAO_0020000-IAO_0020999, d-acts.owl: IAO_0021000-IAO_0021999 The Information Artifact Ontology (IAO) is licensed under the Creative Commons Attribution License (CC-BY) version 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. For more information see http://www.obofoundry.org/docs/Citation.html This version of the ontology is the merge of all its imports and has added axioms inferred by an OWL reasoner en Ontology for Biomedical Investigations Advisors for this project come from the IFOMIS group, Saarbruecken and from the Co-ODE group in Manchester Alan Ruttenberg Allyson Lister Barry Smith Bill Bug Bjoern Peters Carlo Torniai Chris Mungall Chris Stoeckert Chris Taylor Christian Bolling Cristian Cocos Daniel Rubin Daniel Schober Dawn Field Dirk Derom Elisabetta Manduchi Eric Deutsch Frank Gibson Gilberto Fragoso Helen C. Causton Helen Parkinson Holger Stenzhorn James A. Overton James Malone Jay Greenbaum Jeffrey Grethe Jennifer Fostel Jessica Turner Jie Zheng Joe White John Westbrook Kevin Clancy Larisa Soldatova Lawrence Hunter Liju Fan Luisa Montecchi Matthew Brush Matthew Pocock Melanie Courtot Melissa Haendel Mervi Heiskanen Monnie McGee Norman Morrison Philip Lord Philippe Rocca-Serra Phillip Lord Pierre Grenon Richard Bruskiewich Richard Scheuermann Robert Stevens Ryan R. Brinkman Stefan Wiemann Susanna-Assunta Sansone Tanya Gray Tina Hernandez-Boussard Trish Whetzel Yongqun He 2009-07-31 An ontology for representing biomedical investigations, including study designs, the collection and preparation of the targets of investigation, assays, instrumentation and reagents used, as well as the data generated and the types of analysis performed on the data to reach conclusions, and their documentation. The Ontology for Biomedical Investigations (OBI) is build in a collaborative, international effort and will serve as a resource for annotating biomedical investigations, including the study design, protocols and instrumentation used, the data generated and the types of analysis performed on the data. This ontology arose from the Functional Genomics Investigation Ontology (FuGO) and will contain both terms that are common to all biomedical investigations, including functional genomics investigations and those that are more domain specific. OWL-DL An ontology for the annotation of biomedical and functional genomics experiments. http://creativecommons.org/licenses/by/4.0/ Ontology for Biomedical Investigations Please cite the OBI consortium http://purl.obolibrary.org/obo/obi where traditional citation is called for. However it is adequate that individual terms be attributed simply by use of the identifying PURL for the term, in projects that refer to them. 2021-04-06 2022-01-03 2024-01-09 NDF-RT2 [Public Edition] NDF-RT2 Public C130 Class_Code C262717 Class_Description Display_Name C264 FDA_UNII C12847068852884 Level C98 C176 MeSH_CUI MeSH_DUI C134 C142 MeSH_Definition C287 MeSH_Name VA Product 100000 Nystatin 100000 UNT/ML Oral Suspension UNIT/ML NYSTATIN 100000UNT/ML SUSP,ORAL [VA Product] <VANDF_Record>50.68^897^</VANDF_Record><VA_File>50.68</VA_File><VA_IEN>897</VA_IEN> 4001505 NYSTATIN 100000UNT/ML SUSP,ORAL N0000149693 <Product_Component>NYSTATIN</Product_Component><Strength>100000</Strength><Unit>UNIT/ML</Unit><Unit>UNT/ML</Unit><VA.IEN>173</VA.IEN> C0979080 NYSTATIN SUSP 312055 <VANDF_Record>50.68^902^Inactive</VANDF_Record><VA_File>50.68</VA_File><VA_IEN>902</VA_IEN><VA_Status>Inactive</VA_Status> C47624 Active NYSTATIN 100000 UNT/ML SUSP <Product_Component>MAGNESIUM CHLORIDE</Product_Component><Strength>5.08</Strength><Unit>MG/100ML</Unit><VA.IEN>810</VA.IEN> <Product_Component>CALCIUM CHLORIDE</Product_Component><Strength>25.7</Strength><Unit>MG/100ML</Unit><VA.IEN>682</VA.IEN> Calcium Chloride 0.00014 MEQ/ML / Glucose 1 MG/ML / Magnesium Chloride 0.0000245 MEQ/ML / Sodium Chloride 0.00368 MEQ/ML / Sodium Lactate 0.0016 MEQ/ML Intraperitoneal Solution [Dianeal PD-2/2.5] C1829021 <Product_Component>DEXTROSE</Product_Component><Strength>2.5</Strength><Unit>GM/100ML</Unit><VA.IEN>355</VA.IEN> DIANEAL PD-2/DEXTROSE 2.5% SOLN N0000154189 Active <Product_Component>SODIUM CHLORIDE</Product_Component><Strength>538</Strength><Unit>MG/100ML</Unit><VA.IEN>35</VA.IEN> DEXTROSE/PERITONEAL DIALYSIS SOLUTION SOLN 800064 VA Product C39204 <Product_Component>SODIUM LACTATE</Product_Component><Strength>448</Strength><Unit>MG/100ML</Unit><VA.IEN>1292</VA.IEN> <VANDF_Record>50.68^5634^</VANDF_Record><VA_File>50.68</VA_File><VA_IEN>5634</VA_IEN> 4006159 DIANEAL PD-2/DEXTROSE 2.5% SOLN [VA Product] NUI C10490107818172 C114 Print_Name Product_Component C28035649040869 C818 RxNorm_CUI RxNorm_Name C819 SNOMED_CID C28502475289736 C27489601424203 Status C100 Strength Synonym C136 C140 UMLS_CUI Units C102 VANDF_Record C262721 C68 VA_National_Formulary_Name C262777 VUID AHC0 true One of the large, unbroken masses of land into which the Earth's surface is divided. GAZ:00000013 FTT:540 continent TGN:21402 GAZ GeoNames:CONT continental region CONTIN GAZ:00190836 continent {alternative name} Continent {alternative name} TGN:29000 GAZ:00000467 GAZ:00000448 A reference to a place on the Earth, by its name or by its geographical location. GAZ geographic location geographic region {alternative name} geographic location GAZ:00000460 Eurasia GAZ The convention used in gaz.obo is that the Europe-Asia boundary follows the watershed of the Ural Mountains from near Kara, Russia on the Kara Sea to the source of the Ural River, then follows that river to the Caspian Sea. The border then follows the watershed of the Caucasus Mountains from the Caspian Sea to the Black Sea. USA GAZ:00002459 GAZ ISO3166-1:US ISO3166-1:840 A federal constitutional republic comprising fifty states and a federal district. The country is situated mostly in central North America, where its forty-eight contiguous states and Washington, DC, the capital district, lie between the Pacific and Atlantic Oceans, bordered by Canada to the north and Mexico to the south. The State of Alaska is in the northwest of the continent, with Canada to its east and Russia to the west across the Bering Strait, and the State of Hawaii is in the mid-Pacific. The United States also possesses several territories, or insular areas, that are scattered around the Caribbean and Pacific. The states are divided into smaller administrative regions, called counties in most states, exceptions being Alaska (parts of the state are organized into subdivisions called boroughs; the rest of the state's territory that is not included in any borough is divided into "census areas"), and Louisiana (which is divided into county-equivalents that are called parishes). There are also independent cities which are within particular states but not part of any particular county or consolidated city-counties. Another type of organization is where the city and county are unified and function as an independent city. There are thirty-nine independent cities in Virginia and other independent cities or city-counties are San Francisco, California, Baltimore, Maryland, St. Louis, Missouri, Denver, Colorado and Carson City, Nevada. Counties can include a number of cities, towns, villages, or hamlets, or sometimes just a part of a city. Counties have varying degrees of political and legal significance, but they are always administrative divisions of the state. Counties in many states are further subdivided into townships, which, by definition, are administrative divisions of a county. In some states, such as Michigan, a township can file a charter with the state government, making itself into a "charter township", which is a type of mixed municipal and township status (giving the township some of the rights of a city without all of the responsibilities), much in the way a metropolitan municipality is a mixed municipality and county. U.S.A United States of America ISO3166-2:US ISO3166-1:USA See PMID:15693950, PMID:12799354, PMID:20123131, PMID:21208450; Contact Alexander Diehl, addiehl@buffalo.edu, University at Buffalo. Cell Ontology 2024-02-13 An ontology of cell types. Josh Hanna An ontology of drugs. William Hogan DrOn contains content developed by the National Library of Medicine in RxNorm. In creating DrOn, we have used RxNorm content only with SAB = RXNORM. https://creativecommons.org/licenses/by/3.0/ Eric Joseph When citing DrOn, use the permanent URL of the ontology: http://purl.obolibrary.org/obo/dron.owl. When referencing a specific component of the DrOn, such as a class, object property, annotation property, or individual, use the Uniform Resource Identifier (URI) of that component. Mathias Brochhausen http://orcid.org/0000-0002-8343-612X Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/envo/modules/entity_attribute.owl>) VersionIRI(<null>))) [Axioms: 114 Logical Axioms: 19] Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/envo/modules/process_attribute.owl>) VersionIRI(<null>))) [Axioms: 21 Logical Axioms: 2] Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/envo/modules/chemical_concentration.owl>) VersionIRI(<null>))) [Axioms: 186 Logical Axioms: 30] Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/envo/modules/entity_quality_location.owl>) VersionIRI(<null>))) [Axioms: 40 Logical Axioms: 6] http://orcid.org/0000-0002-4366-3088 http://orcid.org/0000-0002-6601-2165 http://orcid.org/0000-0003-1604-1512 Includes Ontology(OntologyID(OntologyIRI(<http://purl.obolibrary.org/obo/envo/modules/entity_attribute_location.owl>) VersionIRI(<null>))) [Axioms: 132 Logical Axioms: 23] ENVO is an ontology which represents knowledge about environments,environmental processes, ecosystems, habitats, and related entities. It interoperates with other ontologies in the OBO Foundry and Library. New terms or revisions can be requested at https://github.com/EnvironmentOntology/envo/issues/ Please see www.environmentontology.org for more information and citations. https://orcid.org/0000-0002-6962-2807 2021-02-01 1.2 Phenotypic abnormalities encountered in human disease Peter Robinson, Sebastian Koehler, The Human Phenotype Ontology Consortium, and The Monarch Initiative Sebastian Köhler Human Phenotype Ontology Consortium Monarch Initiative The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities and clinical features encountered in human disease. Peter Robinson Human Phenotype Ontology Please see license of HPO at http://www.human-phenotype-ontology.org 1.2 Includes Ontology(OntologyID(Anonymous-35)) [Axioms: 88199 Logical Axioms: 0] Includes Ontology(OntologyID(Anonymous-33)) [Axioms: 7236 Logical Axioms: 0] Desikan Jagannathan An ontology for the annotation of the adverse event domain. Vision Release; 1.2.19 Elizabeth Blair "Asiyah" Yu Lin Abra Guo Sydni Joubran OWL-DL Product version Darrell R. Abernethy Sirarat Sarntivijai Ling Wan Shelley Zhang Rebecca Racz Liwei Wang Meiu Wong The Ontology of Adverse Eventsy (OAE) is a biomedical ontology in the domain of adverse events. OAE aims to standardize adverse event annotation, integrate various adverse event data, and support computer-assisted reasoning. OAE is a community-based ontology. Its development follows the OBO Foundry principles. Vaccine adverse events have been used as an initial testing use case. OAE also studies adverse events associated with the administration of drug and nutritional products, the operation of surgeries, and the usage of medical devices, etc. Kevin Mo OAE: Ontology of Adverse Events Yongqun "Oliver" He (YH) Luca Toldo Noemi Garg Edison Ong Keith Burkhart Mathias Brochhausen Izabela Birsanescu Zuoshuang "Allen" Xiang Barry Smith Bingjian Yang Qingping Liu 2019-2-21 Jiangan Xie Sydni Joubran Kelly Yang David Ameriguian Alice Nzinga MIABIS_v2_accepted and UPenn Biobank ontology Roxana Merino-Martinez William R. Hogan Sanela Kjellqvist Loreana Norlin The Ontology for Biobanking (OBIB) is an ontology for the annotation and modeling of the activities, contents, and administration of a biobank. Biobanks are facilities that store specimens, such as bodily fluids and tissues, typically along with specimen annotation and clinical data. OBIB is based on a subset of the Ontology for Biomedical Investigation (OBI), has the Basic Formal Ontology (BFO) as its upper ontology, and is developed following OBO Foundry principles. The first version of OBIB resulted from the merging of two existing biobank-related ontologies, OMIABIS and biobank ontology. Jan-Eric Litton Chris Stoeckert development version Ontology for BIoBanking (OBIB) Jie Zheng Mathias Brochhausen Mikael Eriksson Maria Anderberg 2021-11-12 Martin N. Fransson Vision Release: 1.0.59 OGG is a biological ontology in the area of genes and genomes. OGG uses the Basic Formal Ontology (BFO) as its upper level ontology. This OGG document contains the genes and genomes of a list of selected organisms, including human, two viruses (HIV and influenza virus), and bacteria (B. melitensis strain 16M, E. coli strain K-12 substrain MG1655, M. tuberculosis strain H37Rv, and P. aeruginosa strain PAO1). More OGG information for other organisms (e.g., mouse, zebrafish, fruit fly, yeast, etc.) may be found in other OGG subsets. Daniel Merico Ontology for General Medical Science Werner Ceusters Brian Aevermann Jie Zheng Bill Hogan Albert Goldfain The Ontology for General Medical Science (OGMS) is an ontology of entities involved in a clinical encounter. OGMS includes very general terms that are used across medical disciplines, including: 'disease', 'disorder', 'disease course', 'diagnosis', 'patient', and 'healthcare provider'. OGMS uses the Basic Formal Ontology (BFO) as an upper-level ontology. The scope of OGMS is restricted to humans, but many terms can be applied to a variety of organisms. OGMS provides a formal theory of disease that can be further elaborated by specific disease ontologies. This theory is implemented using OWL-DL and OBO Relation Ontology relations and is available in OWL and OBO formats. OGMS is based on the papers Toward an Ontological Treatment of Disease and Diagnosis and On Carcinomas and Other Pathological Entities. The ontology attempts to address some of the issues raised at the Workshop on Ontology of Diseases (Dallas, TX) and the Signs, Symptoms, and Findings Workshop(Milan, Italy). OGMS was formerly called the clinical phenotype ontology. Terms from OGMS hang from the Basic Formal Ontology. Alan Ruttenberg 2021-08-19 Sivaram Arabandi http://creativecommons.org/licenses/by/4.0/ Lindsay Cowell 2009-08-07 Richard Scheuermann Cornelius Rosse Anand Kumar The Ontology for General Medical Science (OGMS) is based on the papers Toward an Ontological Treatment of Disease and Diagnosis and On Carcinomas and Other Pathological Entities. The ontology attempts to address some of the issues raised at the Workshop on Ontology of Diseases (Dallas, TX). OGMS was formerly called the clinical phenotype ontology. Terms from OGMS hang from the Basic Formal Ontology. The latest version of OGMS is available at http://purl.obolibrary.org/obo/ogms.owl The OGMS developer site is https://github.com/OGMS/ogms If you are interested in participating in the development of OGMS, please send email to baeverma Barry Smith This ontology grew out of efforts to represent the reality underlying the demographic information required by the US federal government's "meaningful use" criteria for electronic medical records and a presentation by Dr. William Hogan at the Electronic Health Record of the Future conference in Buffalo, NY http://ontology.buffalo.edu/EHR/Demographics_Hogan_Buffalo_2010_09_22.ppt William Hogan Mathias Brochhausen Amanda Hicks 2017-06-08 Swetha Garimalla Daniel Welch The Ontology of Medically Related Social Entities Shariq Tariq 11:02:2023 10:57 Use reasoner in Protege to see the correct hierarchy. 1.2 The PRotein Ontology is licensed under CC BY 4.0. Please see http://obofoundry.org/ontology/pr for details. en 1.1.202 Lindsay Cowell Chris mungall OWL-DL Alexander D. Diehl Philip Huang Ryan R. Brinkman Samantha G. Sayers (SGS) Kallan Roan Hong Yu Alan Ruttenburg Rebecca Racz Yu Lin (YL) Amogh Madireddi Shunzhou Deng Ronak Sutariya Anthony Huffman October 5, 2022 Khadeejah Khan Thomas Todd Ningxian Fan Zuoshuang "Allen" Xiang Edison Ong Ningxian Fan Yongqun "Oliver" He (YH) Randi Vita The Vaccine Ontology (VO) is a biomedical ontology in the domain of vaccine and vaccination. VO aims to standardize vaccine annotation, integrate various vaccine data, and support computer-assisted reasoning. VO supports basic vaccine R&D and clincal vaccine usage. VO is being developed as a community-based ontology with support and collaborations from the vaccine and bio-ontology communities. Randi Vita Rohit Goru Barry Smith Anna Maria Masci Erica Marcos Paul Fabry Jason Hu Richard H. Scheuermann An ontology in the domain of vaccine and vaccination Jie Zheng Melanie Courtot Bjoern Peters Vaccine Ontology Omar Tibi