Class: Inheritance

URI: dismech:Inheritance

 classDiagram
    class Inheritance
    click Inheritance href "../Inheritance/"
      Inheritance : de_novo_rate

      Inheritance : description

      Inheritance : evidence





        Inheritance --> "*" EvidenceItem : evidence
        click EvidenceItem href "../EvidenceItem/"



      Inheritance : expressivity





        Inheritance --> "0..1" ExpressivityEnum : expressivity
        click ExpressivityEnum href "../ExpressivityEnum/"



      Inheritance : inheritance_term





        Inheritance --> "0..1" InheritanceDescriptor : inheritance_term
        click InheritanceDescriptor href "../InheritanceDescriptor/"



      Inheritance : name

      Inheritance : parent_of_origin_effect

      Inheritance : penetrance





        Inheritance --> "0..1" PenetranceEnum : penetrance
        click PenetranceEnum href "../PenetranceEnum/"



      Inheritance : penetrance_percentage

Slots

Name	Cardinality and Range	Description	Inheritance
name	1 String		direct
inheritance_term	0..1 InheritanceDescriptor	The HPO mode of inheritance term for this inheritance pattern	direct
penetrance	0..1 PenetranceEnum	Penetrance classification for this inheritance pattern	direct
penetrance_percentage	0..1 FrequencyQuantity	Estimated penetrance percentage or range (e	direct
expressivity	0..1 ExpressivityEnum	Expressivity classification for this inheritance pattern	direct
de_novo_rate	0..1 FrequencyQuantity	Estimated percentage of de novo cases (e	direct
parent_of_origin_effect	0..1 String	Parent-of-origin effect or bias (e	direct
evidence	* recommended EvidenceItem		direct
description	0..1 String		direct

Usages

used by	used in	type	used
Subtype	inheritance	range	Inheritance
Genetic	inheritance	range	Inheritance
Disease	inheritance	range	Inheritance

Identifier and Mapping Information

Schema Source

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

Mappings

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

LinkML Source

Direct

name: Inheritance
from_schema: https://w3id.org/monarch-initiative/dismech
slots:
- name
- inheritance_term
- penetrance
- penetrance_percentage
- expressivity
- de_novo_rate
- parent_of_origin_effect
- evidence
- description

Induced

name: Inheritance
from_schema: https://w3id.org/monarch-initiative/dismech
attributes:
  name:
    name: name
    examples:
    - value: Adolescent Nephronophthisis
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    identifier: true
    alias: name
    owner: Inheritance
    domain_of:
    - ClinicalTrial
    - ComputationalModel
    - DifferentialDiagnosis
    - Subtype
    - 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
  inheritance_term:
    name: inheritance_term
    description: The HPO mode of inheritance term for this inheritance pattern
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: inheritance_term
    owner: Inheritance
    domain_of:
    - Inheritance
    range: InheritanceDescriptor
    inlined: true
  penetrance:
    name: penetrance
    description: Penetrance classification for this inheritance pattern
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: penetrance
    owner: Inheritance
    domain_of:
    - Inheritance
    range: PenetranceEnum
  penetrance_percentage:
    name: penetrance_percentage
    description: Estimated penetrance percentage or range (e.g., 80-90)
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: penetrance_percentage
    owner: Inheritance
    domain_of:
    - Inheritance
    range: FrequencyQuantity
  expressivity:
    name: expressivity
    description: Expressivity classification for this inheritance pattern
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: expressivity
    owner: Inheritance
    domain_of:
    - Inheritance
    range: ExpressivityEnum
  de_novo_rate:
    name: de_novo_rate
    description: Estimated percentage of de novo cases (e.g., 80)
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: de_novo_rate
    owner: Inheritance
    domain_of:
    - Inheritance
    range: FrequencyQuantity
  parent_of_origin_effect:
    name: parent_of_origin_effect
    description: Parent-of-origin effect or bias (e.g., paternal age effect)
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: parent_of_origin_effect
    owner: Inheritance
    domain_of:
    - Inheritance
    range: string
  evidence:
    name: evidence
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: evidence
    owner: Inheritance
    domain_of:
    - PhenotypeContext
    - Dataset
    - ClinicalTrial
    - ComputationalModel
    - DifferentialDiagnosis
    - Subtype
    - CausalEdge
    - TreatmentMechanismTarget
    - 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
  description:
    name: description
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: description
    owner: Inheritance
    domain_of:
    - Descriptor
    - GeneticContext
    - Dataset
    - ClinicalTrial
    - ComputationalModel
    - DifferentialDiagnosis
    - Subtype
    - CausalEdge
    - TreatmentMechanismTarget
    - 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