Class: GeneDescriptor

A descriptor for genes, bindable to HGNC or other gene databases

URI: dismech:GeneDescriptor

 classDiagram
    class GeneDescriptor
    click GeneDescriptor href "../GeneDescriptor/"
      Descriptor <|-- GeneDescriptor
        click Descriptor href "../Descriptor/"

      GeneDescriptor : description

      GeneDescriptor : laterality





        GeneDescriptor --> "0..1" LateralityEnum : laterality
        click LateralityEnum href "../LateralityEnum/"



      GeneDescriptor : located_in





        GeneDescriptor --> "0..1" AnatomicalEntityDescriptor : located_in
        click AnatomicalEntityDescriptor href "../AnatomicalEntityDescriptor/"



      GeneDescriptor : modifier





        GeneDescriptor --> "0..1" ModifierEnum : modifier
        click ModifierEnum href "../ModifierEnum/"



      GeneDescriptor : preferred_term

      GeneDescriptor : qualifiers





        GeneDescriptor --> "*" Qualifier : qualifiers
        click Qualifier href "../Qualifier/"



      GeneDescriptor : term





        GeneDescriptor --> "0..1" Term : term
        click Term href "../Term/"

Inheritance

• Descriptor
  • GeneDescriptor

Slots

Name	Cardinality and Range	Description	Inheritance
preferred_term	1 String	The preferred human-readable term for this descriptor	Descriptor
description	0..1 String	A description of the descriptor	Descriptor
term	0..1 recommended Term	Optional gene database term reference (e	Descriptor
modifier	0..1 ModifierEnum	Directional or qualitative modifier for a descriptor (e	Descriptor
located_in	0..1 AnatomicalEntityDescriptor	Anatomical location where this entity/process occurs or procedure is performe...	Descriptor
laterality	0..1 LateralityEnum	Laterality qualifier (left, right, or bilateral)	Descriptor
qualifiers	* Qualifier	List of predicate-value pairs for formal post-composition	Descriptor

Usages

used by	used in	type	used
GeneticContext	gene	range	GeneDescriptor
GeneticContext	genes	range	GeneDescriptor
Dataset	genes	range	GeneDescriptor
ComputationalModel	perturbations	range	GeneDescriptor
Subtype	genes	range	GeneDescriptor
Pathophysiology	gene	range	GeneDescriptor
Pathophysiology	genes	range	GeneDescriptor
Genetic	gene_term	range	GeneDescriptor
AnimalModel	genes	range	GeneDescriptor
Variant	gene	range	GeneDescriptor

Identifier and Mapping Information

Schema Source

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

Mappings

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

LinkML Source

Direct

name: GeneDescriptor
description: A descriptor for genes, bindable to HGNC or other gene databases
from_schema: https://w3id.org/monarch-initiative/dismech
is_a: Descriptor
slot_usage:
  term:
    name: term
    description: Optional gene database term reference (e.g., HGNC)
    bindings:
    - range: GeneTerm
      obligation_level: REQUIRED
      binds_value_of: id

Induced

name: GeneDescriptor
description: A descriptor for genes, bindable to HGNC or other gene databases
from_schema: https://w3id.org/monarch-initiative/dismech
is_a: Descriptor
slot_usage:
  term:
    name: term
    description: Optional gene database term reference (e.g., HGNC)
    bindings:
    - range: GeneTerm
      obligation_level: REQUIRED
      binds_value_of: id
attributes:
  preferred_term:
    name: preferred_term
    description: The preferred human-readable term for this descriptor. This may be
      more specific or nuanced than the linked ontology term label when the ontology
      does not fully capture the desired granularity. Note that postcomposition using
      the modifier slot may be appropriate for capturing the semantics of the preferred
      term.
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: preferred_term
    owner: GeneDescriptor
    domain_of:
    - Descriptor
    - ConditionDescriptor
    range: string
    required: true
  description:
    name: description
    description: A description of the descriptor. This may typically be redundant
      with the `term` object, but the description is more human-readable and may be
      used to communicate nuances not captured by the rigid standardization of the
      term object.
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: description
    owner: GeneDescriptor
    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
    recommended: false
  term:
    name: term
    description: Optional gene database term reference (e.g., HGNC)
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: term
    owner: GeneDescriptor
    domain_of:
    - Descriptor
    - TermMapping
    - ConditionDescriptor
    - GOEnrichmentTerm
    range: Term
    bindings:
    - range: GeneTerm
      obligation_level: REQUIRED
      binds_value_of: id
    recommended: true
    inlined: true
  modifier:
    name: modifier
    description: Directional or qualitative modifier for a descriptor (e.g., increased,
      decreased, abnormal)
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: modifier
    owner: GeneDescriptor
    domain_of:
    - Descriptor
    range: ModifierEnum
  located_in:
    name: located_in
    description: Anatomical location where this entity/process occurs or procedure
      is performed
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: located_in
    owner: GeneDescriptor
    domain_of:
    - Descriptor
    range: AnatomicalEntityDescriptor
    inlined: true
  laterality:
    name: laterality
    description: Laterality qualifier (left, right, or bilateral)
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: laterality
    owner: GeneDescriptor
    domain_of:
    - Descriptor
    range: LateralityEnum
  qualifiers:
    name: qualifiers
    description: List of predicate-value pairs for formal post-composition. Allows
      OWL-like expressivity with controlled predicates (e.g., RO relations) and values.
    deprecated: Prefer explicit slots like located_in and laterality instead of generic
      qualifiers
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: qualifiers
    owner: GeneDescriptor
    domain_of:
    - Descriptor
    range: Qualifier
    multivalued: true
    inlined: true
    inlined_as_list: true