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Class: Disease

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.

URI: biolink:Disease

classDiagram class Disease DiseaseOrPhenotypicFeature <|-- Disease Disease : category Disease : description Disease : full_name Disease : has_attribute Disease --|> attribute : has_attribute Disease : id Disease : in_taxon Disease --|> organism taxon : 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 Description Inheritance
in_taxon 0..*
OrganismTaxon
connects an entity to its taxonomic classification ThingWithTaxon
in_taxon_label 0..1
LabelType
The human readable scientific name for the taxon of the entity ThingWithTaxon
provided_by 0..*
String
The value in this node property represents the knowledge provider that create... NamedThing
xref 0..*
Uriorcurie
A database cross reference or alternative identifier for a NamedThing or edge... NamedThing
full_name 0..1
LabelType
a long-form human readable name for a thing NamedThing
synonym 0..*
LabelType
Alternate human-readable names for a thing NamedThing
id 1..1
String
A unique identifier for an entity Entity
iri 0..1
IriType
An IRI for an entity Entity
category 1..*
CategoryType
Name of the high level ontology class in which this entity is categorized Entity
type 0..*
String
Entity
name 0..1
LabelType
A human-readable name for an attribute or entity Entity
description 0..1
NarrativeText
a human-readable description of an entity Entity
has_attribute 0..*
Attribute
connects any entity to an attribute Entity

Usages

used by used in type used
DiseaseToExposureEventAssociation subject range Disease
DiseaseToPhenotypicFeatureAssociation subject range Disease
GeneToDiseaseAssociation object range Disease
CausalGeneToDiseaseAssociation object range Disease
CorrelatedGeneToDiseaseAssociation object range Disease
DruggableGeneToDiseaseAssociation 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

Aliases

  • condition
  • disorder
  • medical condition

Identifier and Mapping Information

Valid ID Prefixes

Instances of this class should have identifiers with one of the following prefixes:

  • MONDO

  • DOID

  • OMIM

  • OMIM.PS

  • orphanet

  • EFO

  • UMLS

  • MESH

  • MEDDRA

  • NCIT

  • SNOMEDCT

  • medgen

  • ICD10

  • ICD9

  • KEGG.DISEASE

  • HP

  • MP

  • PHARMGKB.DISEASE

Schema Source

  • from schema: https://w3id.org/biolink/biolink-model

Mappings

Mapping Type Mapped Value
self biolink:Disease
native biolink:Disease
exact MONDO:0000001, DOID:4, NCIT:C2991, WIKIDATA:Q12136, SIO:010299, UMLSSG:DISO, STY:T047, dcid:Disease
narrow STY:T019, STY:T020, STY:T048, STY:T049, STY:T190, STY:T191, MONDO:0042489

LinkML Source

Direct

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:T190
- STY:T191
- MONDO:0042489
is_a: disease or phenotypic feature