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Class: Disease

Description: A disorder of structure or function, especially one that produces specific signs, phenotypes or symptoms or that affects a specific location and is not simply a direct result of physical injury. A disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.

Aliases: condition, disorder, medical condition

classDiagram class Disease DiseaseOrPhenotypicFeature <|-- Disease Disease : category Disease : deprecated Disease : description Disease : full_name Disease : has_attribute Disease --|> Attribute : has_attribute Disease : id Disease : in_taxon Disease --|> OrganismTaxon : in_taxon Disease : in_taxon_label Disease : iri Disease : name Disease : provided_by Disease : synonym Disease : type Disease : xref

Inheritance

Slots

Name Cardinality and Range Inheritance Examples
in_taxon:
connects an entity to its taxonomic classification. Only certain kinds of entities can be taxonomically classified; see 'thing with taxon'
0..*
OrganismTaxon
ThingWithTaxon
in_taxon_label:
The human readable scientific name for the taxon of the entity.
0..1
LabelType
ThingWithTaxon
provided_by:
The value in this node property represents the knowledge provider that created or assembled the node and all of its attributes. Used internally to represent how a particular node made its way into a knowledge provider or graph.
0..*
String
NamedThing
xref:
A database cross reference or alternative identifier for a NamedThing or edge between two NamedThings. This property should point to a database record or webpage that supports the existence of the edge, or gives more detail about the edge. This property can be used on a node or edge to provide multiple URIs or CURIE cross references.
0..*
Uriorcurie
NamedThing
full_name:
a long-form human readable name for a thing
0..1
LabelType
NamedThing
synonym:
Alternate human-readable names for a thing
0..*
LabelType
NamedThing
id:
A unique identifier for an entity. Must be either a CURIE shorthand for a URI or a complete URI
1..1
String
Entity
iri:
An IRI for an entity. This is determined by the id using expansion rules.
0..1
IriType
Entity
category:
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}
1..*
Uriorcurie
Entity
type:
None
0..*
String
Entity
name:
A human-readable name for an attribute or entity.
0..1
LabelType
Entity
description:
a human-readable description of an entity
0..1
NarrativeText
Entity
has_attribute:
connects any entity to an attribute
0..*
Attribute
Entity
deprecated:
A boolean flag indicating that an entity is no longer considered current or valid.
0..1
Boolean
Entity

Usages

used by used in type used
DiseaseToEntityAssociationMixin subject range Disease
DiseaseToExposureEventAssociation subject range Disease
EntityToDiseaseAssociationMixin object range Disease
DiseaseToPhenotypicFeatureAssociation subject range Disease
GeneToDiseaseAssociation object range Disease
CausalGeneToDiseaseAssociation object range Disease
CorrelatedGeneToDiseaseAssociation object range Disease
DruggableGeneToDiseaseAssociation object range Disease
PhenotypicFeatureToDiseaseAssociation object range Disease
VariantToDiseaseAssociation object range Disease
GenotypeToDiseaseAssociation object range Disease
GeneAsAModelOfDiseaseAssociation object range Disease
VariantAsAModelOfDiseaseAssociation object range Disease
GenotypeAsAModelOfDiseaseAssociation object range Disease
CellLineAsAModelOfDiseaseAssociation object range Disease
OrganismalEntityAsAModelOfDiseaseAssociation object range Disease
GeneHasVariantThatContributesToDiseaseAssociation object range Disease

Valid ID Prefixes

Instances of this class should have identifiers with one of the following prefixes, ordered with the most preferred first:

ID Prefix Usage
MONDO Disease
DOID Disease
OMIM Disease
Gene
OMIM.PS Disease
orphanet Disease
EFO Disease
PhenotypicFeature
ClinicalFinding
UMLS OntologyClass
OrganismTaxon
MolecularEntity
ChemicalEntity
SmallMolecule
ChemicalMixture
NucleicAcidEntity
MolecularMixture
ComplexMolecularMixture
MolecularActivity
ProcessedMaterial
Drug
EnvironmentalFoodContaminant
FoodAdditive
Food
Disease
PhenotypicFeature
AnatomicalEntity
CellularComponent
Cell
GrossAnatomicalStructure
Gene
Polypeptide
Protein
MESH OntologyClass
OrganismTaxon
MolecularEntity
ChemicalEntity
SmallMolecule
ChemicalMixture
NucleicAcidEntity
MolecularMixture
ComplexMolecularMixture
ProcessedMaterial
Drug
EnvironmentalFoodContaminant
FoodAdditive
Food
Disease
PhenotypicFeature
AnatomicalEntity
CellularComponent
Cell
GrossAnatomicalStructure
Protein
MEDDRA Disease
PhenotypicFeature
NCIT Food
GeneticInheritance
Disease
PhenotypicFeature
AnatomicalEntity
CellularComponent
Cell
GrossAnatomicalStructure
ClinicalFinding
SNOMEDCT Disease
PhenotypicFeature
CellularComponent
Cell
medgen Disease
ICD10 Disease
ICD9 Disease
KEGG.DISEASE Disease
HP GeneticInheritance
Disease
PhenotypicFeature
MP Disease
PhenotypicFeature
PHARMGKB.DISEASE Disease

LinkML Source

name: disease
id_prefixes:
- MONDO
- DOID
- OMIM
- OMIM.PS
- orphanet
- EFO
- UMLS
- MESH
- MEDDRA
- NCIT
- SNOMEDCT
- medgen
- ICD10
- ICD9
- KEGG.DISEASE
- HP
- MP
- PHARMGKB.DISEASE
description: A disorder of structure or function, especially one that produces specific
  signs, phenotypes or symptoms or that affects a specific location and is not simply
  a direct result of physical injury.  A disposition to undergo pathological processes
  that exists in an organism because of one or more disorders in that organism.
in_subset:
- model_organism_database
- translator_minimal
from_schema: https://w3id.org/biolink/biolink-model
aliases:
- condition
- disorder
- medical condition
exact_mappings:
- MONDO:0000001
- DOID:4
- NCIT:C2991
- WIKIDATA:Q12136
- SIO:010299
- UMLSSG:DISO
- STY:T047
- dcid:Disease
narrow_mappings:
- STY:T019
- STY:T020
- STY:T048
- STY:T049
- STY:T191
- MONDO:0042489
is_a: disease or phenotypic feature