Class: ExternalAssertion

An externally curated assertion or registry record relevant to a disease or variant, such as a ClinGen gene-disease validity assertion or a ClinGen Allele Registry record.

URI: dismech:class/ExternalAssertion

 classDiagram
    class ExternalAssertion
    click ExternalAssertion href "../../classes/ExternalAssertion/"
      ExternalAssertion : assertion_type

      ExternalAssertion : description

      ExternalAssertion : evidence





        ExternalAssertion --> "* _recommended_" EvidenceItem : evidence
        click EvidenceItem href "../../classes/EvidenceItem/"



      ExternalAssertion : external_id

      ExternalAssertion : name

      ExternalAssertion : notes

      ExternalAssertion : source

      ExternalAssertion : url

Slots

Name	Cardinality and Range	Description	Inheritance
name	1 String		direct
source	1 String	Source dataset or provenance label	direct
assertion_type	0..1 String	Type/category of the external assertion or registry record	direct
external_id	1 String	Identifier used by the external resource (e	direct
url	0..1 Uri	URL for the external assertion or registry record	direct
description	0..1 String		direct
evidence	* recommended EvidenceItem		direct
notes	0..1 String		direct

Usages

used by	used in	type	used
Disease	external_assertions	range	ExternalAssertion
Variant	external_assertions	range	ExternalAssertion

Identifier and Mapping Information

Schema Source

• from schema: https://w3id.org/monarch-initiative/dismech

Mappings

Mapping Type	Mapped Value
self	dismech:ExternalAssertion
native	dismech:ExternalAssertion

LinkML Source

Direct

name: ExternalAssertion
description: An externally curated assertion or registry record relevant to a disease
  or variant, such as a ClinGen gene-disease validity assertion or a ClinGen Allele
  Registry record.
from_schema: https://w3id.org/monarch-initiative/dismech
slots:
- name
- source
- assertion_type
- external_id
- url
- description
- evidence
- notes
slot_usage:
  source:
    name: source
    required: true
  external_id:
    name: external_id
    required: true

Induced

name: ExternalAssertion
description: An externally curated assertion or registry record relevant to a disease
  or variant, such as a ClinGen gene-disease validity assertion or a ClinGen Allele
  Registry record.
from_schema: https://w3id.org/monarch-initiative/dismech
slot_usage:
  source:
    name: source
    required: true
  external_id:
    name: external_id
    required: true
attributes:
  name:
    name: name
    examples:
    - value: Adolescent Nephronophthisis
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    identifier: true
    alias: name
    owner: ExternalAssertion
    domain_of:
    - ExperimentalModel
    - ClinicalTrial
    - ComputationalModel
    - ModelVariable
    - SeverityTier
    - DifferentialDiagnosis
    - Subtype
    - ExternalAssertion
    - EpidemiologyInfo
    - Pathophysiology
    - Phenotype
    - Biochemical
    - HistopathologyFinding
    - Genetic
    - Environmental
    - Disease
    - Stage
    - AgentLifeCycleStage
    - Treatment
    - InfectiousAgent
    - Transmission
    - Assay
    - Diagnosis
    - Inheritance
    - Variant
    - Mechanism
    - ModelingConsideration
    - Definition
    - CriteriaSet
    - ComorbidityAssociation
    range: string
    required: true
  source:
    name: source
    description: Source dataset or provenance label
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: source
    owner: ExternalAssertion
    domain_of:
    - ExternalAssertion
    - AssociationSignal
    range: string
    required: true
  assertion_type:
    name: assertion_type
    description: Type/category of the external assertion or registry record
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: assertion_type
    owner: ExternalAssertion
    domain_of:
    - ExternalAssertion
    range: string
  external_id:
    name: external_id
    description: Identifier used by the external resource (e.g., CCID:009009, CA2573049045)
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: external_id
    owner: ExternalAssertion
    domain_of:
    - ExternalAssertion
    range: string
    required: true
  url:
    name: url
    description: URL for the external assertion or registry record
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: url
    owner: ExternalAssertion
    domain_of:
    - ExternalAssertion
    - TrackedIssue
    range: uri
  description:
    name: description
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: description
    owner: ExternalAssertion
    domain_of:
    - Descriptor
    - DietaryModification
    - GeneticContext
    - Dataset
    - ExperimentalModel
    - ClinicalTrial
    - ComputationalModel
    - ModelVariable
    - DifferentialDiagnosis
    - Subtype
    - CausalEdge
    - TreatmentMechanismTarget
    - ModelMechanismLink
    - ProteinStructure
    - ExternalAssertion
    - EpidemiologyInfo
    - Pathophysiology
    - Phenotype
    - HistopathologyFinding
    - Environmental
    - Disease
    - Stage
    - AgentLifeCycle
    - AgentLifeCycleStage
    - AnimalModel
    - Treatment
    - InfectiousAgent
    - Transmission
    - Assay
    - Diagnosis
    - Inheritance
    - Variant
    - FunctionalEffect
    - Mechanism
    - ModelingConsideration
    - Definition
    - CriteriaSet
    - ConditionDescriptor
    - GOEnrichment
    - ComorbidityHypothesis
    - UpstreamConditionHypothesis
    - MechanisticHypothesis
    range: string
  evidence:
    name: evidence
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: evidence
    owner: ExternalAssertion
    domain_of:
    - PhenotypeContext
    - Dataset
    - ExperimentalModel
    - ClinicalTrial
    - ComputationalModel
    - DifferentialDiagnosis
    - Subtype
    - CausalEdge
    - TreatmentMechanismTarget
    - ModelMechanismLink
    - ExternalAssertion
    - Finding
    - Prevalence
    - ProgressionInfo
    - EpidemiologyInfo
    - Pathophysiology
    - Phenotype
    - Biochemical
    - HistopathologyFinding
    - Genetic
    - Environmental
    - Stage
    - AgentLifeCycle
    - AgentLifeCycleStage
    - AnimalModel
    - Treatment
    - InfectiousAgent
    - Transmission
    - Diagnosis
    - Inheritance
    - Variant
    - ModelingConsideration
    - ClassificationAssignment
    - Definition
    - CriteriaSet
    - AssociationSignal
    - AssociationStatistics
    - ComorbidityHypothesis
    - UpstreamConditionHypothesis
    - MechanisticHypothesis
    range: EvidenceItem
    recommended: true
    multivalued: true
    inlined: true
    inlined_as_list: true
  notes:
    name: notes
    examples:
    - value: Contagious stage where symptoms appear and the bacteria can be spread
        to others.
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: notes
    owner: ExternalAssertion
    domain_of:
    - GeneticContext
    - OnsetDescriptor
    - PhenotypeContext
    - Dataset
    - ExperimentalModel
    - ClinicalTrial
    - ComputationalModel
    - ModelVariable
    - DifferentialDiagnosis
    - ExternalAssertion
    - TrackedIssue
    - Prevalence
    - ProgressionInfo
    - EpidemiologyInfo
    - Pathophysiology
    - Phenotype
    - Biochemical
    - HistopathologyFinding
    - Genetic
    - Environmental
    - Disease
    - Stage
    - AgentLifeCycle
    - AgentLifeCycleStage
    - Treatment
    - Transmission
    - Diagnosis
    - ClassificationAssignment
    - Definition
    - CriteriaSet
    - TermMapping
    - MappingConsistency
    - ComorbidityAssociation
    - AssociationSignal
    - AssociationMetric
    - AssociationStatistics
    - MechanisticHypothesis
    range: string