Link

Class: Disease

URI: biolink:Disease


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Identifier prefixes

  • MONDO
  • DOID
  • OMIM
  • ORPHANET
  • EFO
  • UMLS
  • MESH
  • MEDDRA
  • NCIT
  • SNOMEDCT
  • medgen
  • ICD10
  • ICD9
  • ICD0
  • KEGG.DISEASE
  • HP
  • MP

Parents

  • is_a: DiseaseOrPhenotypicFeature - Either one of a disease or an individual phenotypic feature. Some knowledge resources such as Monarch treat these as distinct, others such as MESH conflate.

Referenced by class

Attributes

Inherited from entity:

  • id 1..1
    • Description: A unique identifier for an entity. Must be either a CURIE shorthand for a URI or a complete URI
    • Range: String
    • in subsets: (translator_minimal)
  • iri 0..1
    • Description: An IRI for an entity. This is determined by the id using expansion rules.
    • Range: IriType
    • in subsets: (translator_minimal,samples)
  • category 0..*
    • Description: Name of the high level ontology class in which this entity is categorized. Corresponds to the label for the biolink entity type class.
  • In a neo4j database this MAY correspond to the neo4j label tag.
  • In an RDF database it should be a biolink model class URI. This field is multi-valued. It should include values for ancestors of the biolink class; for example, a protein such as Shh would have category values biolink:Protein, biolink:GeneProduct, biolink:MolecularEntity, … In an RDF database, nodes will typically have an rdf:type triples. This can be to the most specific biolink class, or potentially to a class more specific than something in biolink. For example, a sequence feature f may have a rdf:type assertion to a SO class such as TF_binding_site, which is more specific than anything in biolink. Here we would have categories {biolink:GenomicEntity, biolink:MolecularEntity, biolink:NamedThing}
  • type 0..1
  • description 0..1
    • Description: a human-readable description of an entity
    • Range: NarrativeText
    • in subsets: (translator_minimal)
  • source 0..1
    • Description: a lightweight analog to the association class ‘has provider’ slot, which is the string name, or the authoritative (i.e. database) namespace, designating the origin of the entity to which the slot belongs.
    • Range: LabelType
    • in subsets: (translator_minimal)
  • provided by 0..*
    • Description: connects an association to the agent (person, organization or group) that provided it
    • Range: Agent
  • has attribute 0..*
    • Description: connects any entity to an attribute
    • Range: Attribute
    • in subsets: (samples)

Inherited from macromolecular machine mixin:

  • macromolecular machine mixin➞name 0..1
    • Description: genes are typically designated by a short symbol and a full name. We map the symbol to the default display name and use an additional slot for full name
    • Range: SymbolType
    • in subsets: (translator_minimal,samples)

Inherited from named thing:

  • named thing➞category 1..*
    • Description: Name of the high level ontology class in which this entity is categorized. Corresponds to the label for the biolink entity type class.
  • In a neo4j database this MAY correspond to the neo4j label tag.
  • In an RDF database it should be a biolink model class URI. This field is multi-valued. It should include values for ancestors of the biolink class; for example, a protein such as Shh would have category values biolink:Protein, biolink:GeneProduct, biolink:MolecularEntity, … In an RDF database, nodes will typically have an rdf:type triples. This can be to the most specific biolink class, or potentially to a class more specific than something in biolink. For example, a sequence feature f may have a rdf:type assertion to a SO class such as TF_binding_site, which is more specific than anything in biolink. Here we would have categories {biolink:GenomicEntity, biolink:MolecularEntity, biolink:NamedThing}
    • Range: NamedThing
    • in subsets: (translator_minimal)

Inherited from thing with taxon:

  • in taxon 0..*
    • Description: connects an entity to its taxonomic classification. Only certain kinds of entities can be taxonomically classified; see ‘thing with taxon’
    • Range: OrganismTaxon
    • in subsets: (translator_minimal)

Other properties

     
Aliases:   condition
    disorder
    medical condition
In Subsets:   model_organism_database
Exact Mappings:   MONDO:0000001
    DOID:4
    NCIT:C2991
    WIKIDATA:Q12136
    SIO:010299
    UMLSSG:DISO
    STY:T047
Narrow Mappings:   STY:T019
    STY:T020
    STY:T037
    STY:T046
    STY:T048
    STY:T049
    STY:T190
    STY:T191