disease.mcf

Node: dcid:Disease
name: "Disease"
typeOf: schema:Class
subClassOf: dcs:BiomedicalEntity
description: "Disease - a defined disorder with a set of symptoms that effect the biological processes of a living entity and is not the direct result of physical injury."
descriptionUrl: "https://disease-ontology.org/"

Node: dcid:DiseaseAssociation
name: "DiseaseAssociation"
typeOf: schema:Class
subClassOf: dcs:Disease
description: "The association between a disease and a second type of entity."

Node: dcid:DiseaseDiseaseAssociation
name: "DiseaseDiseaseAssociation"
typeOf: schema:Class
subClassOf: dcs:DiseaseAssociation
description: "The association between two diseases."

Node: dcid:DiseaseGeneAssociation
name: "DiseaseGeneAssociation"
typeOf: schema:Class
subClassOf: dcs:DiseaseAssociation
description: "The association of a disease with a gene."

Node: dcid:DiseaseGeneticVariantAssociation
name: "DiseaseGeneticVariantAssociation"
typeOf: schema:Class
subClassOf: dcs:DiseaseAssociation
description: "The association between a disease and a genetic variant."

Node: dcid:MeSHConcept
name: "MeSHConcept"
typeOf: schema:Class
subClassOf: dcs:MeSHRecordType
description: "The bearer of linguistic meaning in MeSH as defined by the ScopeNote, comprising a DescriptorRecord or SupplementalRecord or QualifierRecord, and consisting of Term elements. One of the three main objects in the MeSH XML (the others being the record, and term). A single record will have one or more concepts, one of which is the preferred concept of the record. A Concept will have one or more terms, one of which is the preferred term for the concept. Referred to uniquely by both a ConceptUI and a ConceptName."
descriptionUrl: "https://www.nlm.nih.gov/mesh/xml_data_elements.html#Concept"
synonym: "Medical Subject Heading Concept"

Node: dcid:MeSHDescriptor
name: "MeSHDescriptor"
typeOf: schema:Class
subClassOf: dcs:MeSHRecordType
description: "Cluster of one or more concepts used for subject indexing and retrieval. Identified uniquely by a DescriptorUI and DescriptorName. A Descriptor. A Descriptor record. Also known as Main Heading. (Note that this differs from the MEDLINE MeshHeading element. For example, the MEDLINE element includes both the Descriptor name and the Qualifier name assigned to a citation.)."
descriptionUrl: "https://www.nlm.nih.gov/mesh/xml_data_elements.html#DescriptorRecord"
synonym: "Medical Subject Heading Descriptor"

Node: dcid:MeSHQualifier
name: "MeSHQualifier"
typeOf: schema:Class
subClassOf: dcs:MeSHRecordType
description: "Seven-character alpha-numeric string uniquely identifying a QualifierRecord and, along with the QualifierName, used to represent the Qualifier record in other elements. MeSHQualifiers are used to give additional context to MeSHDescriptor. MeSH has rules governing which Qualifiers can be used with a given Descriptor, as well as which MeSHQualifers cannot be used with a given MeSHDescriptor."
descriptionUrl: "https://www.nlm.nih.gov/mesh/xml_data_elements.html#QualifierUI"
synonym: "Medical Subject Heading Qualifier"

Node: dcid:MeSHRecordType
name: "MeSHRecordType"
typeOf: schema:Class
subClassOf: schema:Intangible,dcs:BiomedicalEntity
sameAs: "https://www.nlm.nih.gov/mesh/intro_record_types.html"
description: "The Medical Subject Headings (MeSH) thesaurus is a controlled and hierarchically-organized vocabulary produced by the National Library of Medicine. It is used for indexing, cataloging, and searching of biomedical and health-related information. MeSH includes the subject headings appearing in MEDLINE/PubMed, the NLM Catalog, and other NLM databases. It is composed of five different record types: Descriptors, Qualifiers, Concept, Terms, and Supplementary Concept Records."
descriptionUrl: "https://www.nlm.nih.gov/mesh/meshhome.html"

Node: dcid:MeSHSupplementaryConceptRecord
name: "MeSHSupplementaryConceptRecord"
typeOf: schema:Class
subClassOf: dcs:MeSHRecordType
abbreviation: "MeSH SCR"
description: "Alpha-numeric string which comprises the basic unit of the MeSH vocabulary. Also functions as the name of a Descriptor and concept. The term itself is the String element."
descriptionUrl: "https://www.nlm.nih.gov/mesh/xml_data_elements.html#SupplementalRecord"
synonym: "Medical Subject Heading Supplementary Concept Record"

Node: dcid:MeSHTerm
name: "MeSHTerm"
typeOf: schema:Class
subClassOf: dcs:MeSHRecordType
description: "Alpha-numeric string which comprises the basic unit of the MeSH vocabulary. Also functions as the name of a Descriptor and concept. The term itself is the String element."
descriptionUrl: "https://www.nlm.nih.gov/mesh/xml_data_elements.html#Term"
synonym: "Medical Subject Heading Term"

Node: dcid:alternateDiseaseOntologyID
typeOf: schema:Property
name: "alternateDiseaseOntologyID"
domainIncludes: dcs:Disease
rangeIncludes: schema:Text
description: "An alternative disease ontology ID (DOID) associated with a disease."

Node: dcid:associationSource
name: "associationSource"
typeOf: schema:Property
rangeIncludes: dcs:AssociationSourceEnum
domainIncludes: dcs:DiseaseGeneAssociation
description: "How the association between a disease and a gene was made."

Node: dcid:associationIdentifier
name: "associationIdentifier"
typeOf: schema:Property
rangeIncludes: schema:Text
domainIncludes: dcs:DiseaseGeneAssociation
description: "Identifier for disease-gene association source."

Node: dcid:associationScore
name: "associationScore"
typeOf: schema:Property
rangeIncludes: schema:Number
domainIncludes: dcs:DiseaseGeneAssociation
description: "The score for the association between the disease and the gene."

Node: dcid:associationConfidenceInterval
name: "associationConfidenceInterval"
typeOf: schema:Property
rangeIncludes: schema:Number
domainIncludes: dcs:DiseaseGeneAssociation
description: "The confidence interval of the score for the association between the disease and the gene."

Node: dcid:diseaseSynonym
typeOf: schema:Property
name: "diseaseSynonym"
domainIncludes: dcs:Disease
rangeIncludes: schema:Text
description: "A synonym for a disease name."

Node: dcid:diseaseOntologyID
name: "diseaseOntologyID"
typeOf: schema:Property
rangeIncludes: dcs:Disease
domainIncludes: dcs:Disease,schema:Text
description: "The disease ontology identifier for the disease specified by https://disease-ontology.org."

Node: dcid:experimentSampleCount
name: "experimentSampleCount"
typeOf: schema:Property
rangeIncludes: schema:Number
domainIncludes: dcs:DiseaseGeneAssociation
description: "The number of samples in the experiment associating a gene with a disease ontology ID."

Node: dcid:experimentPValue
name: "experimentPValue"
typeOf: schema:Property
rangeIncludes: schema:Number
domainIncludes: dcs:DiseaseGeneAssociation
description: "The p-value of the experiment associating a gene with a disease ontology ID."

Node: dcid:geneticAndRareDiseasesID
typeOf: schema:Property
name: "geneticAndRareDiseasesID"
domainIncludes: dcs:Disease
rangeIncludes: schema:Text
description: "The identifier for the disease in the Genetic and Rare Diseases (GARD) database."
descriptionUrl: "https://rarediseases.info.nih.gov/"

Node: dcid:hasMeSHQualifier
name: "hasMeSHQualifier"
typeOf: schema:Property
domainIncludes: dcs:MeSHConcept,dcs:MeSHDescriptor
rangeIncludes: dcs:MeSHQualifier
description: "Assigns a MeSH Concept or Descriptor to being associated with a MeSH Qualifier group. These can be used for indexing or cataloging alongside Descriptors by offering a conveinent means to group together references of interest."

Node: dcid:icd10ApproximateSynonym
typeOf: dcs:Property
name: "icd10ApproximateSynonym"
domainIncludes: dcs:Disease
rangeIncludes: dcs:ICD10Code
description: "The approximately corresponding, but not exact match of the disease diagnosis code for version 10 of the International Classification of Diseases, Clinical Modification."

Node: dcid:icd10CMCode
typeOf: schema:Property
name: "icd10CMCode"
domainIncludes: dcs:Disease
rangeIncludes: dcs:ICD10Code
description: "The disease diagnosis code for version 10 of the International Classification of Diseases, Clinical Modification."

Node: dcid:icd11CMCode
typeOf: schema:Property
name: "icd11CMCode"
domainIncludes: dcs:Disease
rangeIncludes: schema:Text
description: "The disease diagnosis code for version 11 of the International Classification of Diseases, Clinical Modification."

Node: dcid:icd9CMCode
typeOf: schema:Property
name: "icd9CMCode"
domainIncludes: dcs:Disease
rangeIncludes: schema:Text
description: "The disease diagnosis code for version 9 of the International Classification of Diseases, Clinical Modification."

Node: dcid:internationalClassificationOfDiseasesOntologyID
typeOf: schema:Property
name: "internationalClassificationOfDiseasesOntologyID"
domainIncludes: dcs:Disease
rangeIncludes: schema:Text
description: "International Classification of Diseases Ontology (ICDO) is an ontology representation of the ICD system, which includes ICD-10, ICD-9, and the future ICD-11."
abbreviation: "ICDO ID"

Node: dcid:isConceptPreferredTerm
name: "isConceptPreferredTerm"
typeOf: schema:Property
domainIncludes: dcs:MeSHTerm
rangeIncludes: schema:Boolean

Node: dcid:isPreferredConcept
name: "isPreferredConcept"
typeOf: schema:Property
domainIncludes: dcs:MeSHConcept
rangeIncludes: schema:Boolean

Node: dcid:isRecordPreferredTerm
name: "isRecordPreferredTerm"
typeOf: schema:Property
domainIncludes: dcs:MeSHTerm
rangeIncludes: schema:Boolean

Node: dcid:mechanismOfAction
name: "mechanismOfAction"
typeOf: schema:Property
domainIncludes: schema:Drug
rangeIncludes: dcs:MeSHDescriptor
description: "In pharmacology, the term mechanism of action (MOA) refers to the specific biochemical interaction through which a drug substance produces its pharmacological effect."
descriptionUrl: "https://en.wikipedia.org/wiki/Mechanism_of_action"

Node: dcid:medDraID
typeOf: schema:Property
name: "medDraID"
domainIncludes: dcs:Disease
rangeIncludes: schema:Text
description: "The disease identifiers extracted from the medDRA medical terminology."
descriptionUrl: "https://www.meddra.org/"

Node: dcid:medicalSubjectHeadingTreeNumber
name: "medicalSubjectHeadingTreeNumber"
typeOf: schema:Property
rangeIncludes: schema:Text
domainIncludes: dcs:MeSHDescriptor,dcs:MeSHQualifier
description: "Alpha-numeric string referring to location within a MeSH Descriptor or Qualifier hierarchy."
abbreviation: "MeSH Tree Number"

Node: dcid:nationalCancerInstituteID
typeOf: schema:Property
name: "nationalCancerInstituteID"
domainIncludes: dcs:Disease
rangeIncludes: schema:Text
description: "The identifier for the disease in the National Cancer Institute (NCI) thesaurus."
descriptionUrl: "https://www.cancer.gov/"
abbreviation: "NCI ID"

Node: dcid:nationalLibraryOfMedicineClassificationNumber
name: "nationalLibraryOfMedicineClassificationNumber"
typeOf: schema:Property
rangeIncludes: schema:Text
domainIncludes: dcs:MeSHDescriptor
description: "Classification Number provided by the National Library of Medicine (NLM) Cataloging and Metadata Management Section (CAMMS)."
abbreviation: "NLM Classification Number"

Node: dcid:preferredMeSHConcept
name: "preferredMeSHConcept"
typeOf: schema:Property
domainIncludes: dcs:MeSHConcept
rangeIncludes: dcs:MeSHConcept
description: "The preferred MeSH Concept to which the MeSH Concept that is narrower in scope is related."

Node: dcid:scopeNote
name: "scopeNote"
typeOf: schema:Property
rangeIncludes: schema:Text
domainIncludes: dcs:Thing
specializationOf: dcs:description
description: "A scope note is a concise explanatory text that defines the intended meaning and usage of a term or concept within a specific context. It clarifies the meaning of the term, specifies the boundaries of the concept, and provides guidance on its usage."
descriptionUrl: "https://www.nlm.nih.gov/mesh/xml_data_elements.html#ScopeNote"

Node: dcid:snomedCT
typeOf: schema:Property
name: "snomedCT"
domainIncludes: dcs:Disease
rangeIncludes: schema:Text
description: "SNOMED CT is a terminology that can cross-map to other international terminologies, classifications and code systems. Maps are associations between particular concepts or terms in one system and concepts or terms in another system that have the same (or similar) meaning."
descriptionUrl: "https://www.snomed.org/use-snomed-ct"

Node: dcid:umlsConceptUniqueID
typeOf: schema:Property
name: "umlsConceptUniqueID"
domainIncludes: dcs:Disease, dcs:UmlsConceptUniqueIdentifier
rangeIncludes: dcs:MeSHConcept, dcs:UmlsConceptUniqueIdentifier, schema:Text
abbreviation: "CUI"
description: "A concept is a meaning. A meaning can have many different names. A key goal of Metathesaurus construction is to understand the intended meaning of each name in each source vocabulary and to link all the names from all of the source vocabularies that mean the same thing (the synonyms). CUI contain the letter C followed by seven numbers. In the example on the right the CUI is C0018681."
descriptionUrl: "https://www.nlm.nih.gov/research/umls/new_users/online_learning/Meta_005.html"

Node: dcid:unifiedMedicalLanguageSystemConceptUniqueIdentifier
typeOf: schema:Property
name: "unifiedMedicalLanguageSystemConceptUniqueIdentifier"
domainIncludes: dcs:Disease
rangeIncludes: schema:Text,dcs:MeSHConcept
description: "A concept is a meaning. A meaning can have many different names. A key goal of Metathesaurus construction is to understand the intended meaning of each name in each source vocabulary and to link all the names from all of the source vocabularies that mean the same thing (the synonyms). Concept Unique Identifier (CUI) contain the letter C followed by seven numbers. In the example on the right the CUI is C0018681."
descriptorUrl: "https://www.nlm.nih.gov/research/umls/new_users/online_learning/Meta_005.html"
abbreviation: "UMLS Concept ID"
sameAs: "umlsConceptUniqueID"