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Class: GeneticCondition

A disease, or a set of one or more co-occurring phenotypes, controlled by genetic factors with a defined inheritance pattern.

URI: vaspec:GeneticCondition

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Parents

  • is_a: Entity - Anything that exists, has existed, or will exist.

Referenced by Class

Attributes

Own

Inherited from Entity:

  • Element➞extensionElement 0..*
    • Description: A key-value data structure that allows definition of custom fields to capture information not directly supported by the VA specification.
    • Range: Extension
  • Entity➞localId 1..1
    • Description: The logical identifier of the entity in the system of record, e.g. a UUID. This 'id' is unique within a given system. The identified entity may have a different 'id' in a different system.
    • Range: Identifier
  • Entity➞globalIdentifier 0..*
    • Description: A business identifier or accession number for the entity, typically as provided by an external system or authority, that is globally unique and persists across implementing systems.
    • Range: Identifier
  • Entity➞type 1..1
    • Description: The schema class that is instantiated by the data object. Must be the name of a class from the VA schema.
    • Range: Class
  • Entity➞label 0..1
    • Description: A primary name for the Entity.
    • Range: String
  • Entity➞alternativeLabel 0..*
    • Description: An alternative name for the Entity.
    • Range: String
  • Entity➞description 0..1
    • Description: A free text description of the Entity.
    • Range: String
  • Entity➞hasURL 0..*
    • Description: The URL/web address of a digital resource representing the entity, or providing information about it.
    • Range: Url
  • Entity➞reference 0..*
    • Description: A document or other Information Entity that describes the Entity.
    • Range: InformationEntity
  • Entity➞xref 0..*
    • Description: A cross-reference to database identifier(s) representing the same or a closely related entity or concept as the Entity.
    • Range: String
  • Entity➞thisRecordMeta 0..1
    • Description: A reusable structure that encapsulates provenance metadata about the present record/data object (as opposed to provenance information about the real world entity this record/data object represents).
    • Range: RecordMetadata
  • Entity➞sourceRecordMeta 0..*
    • Description: A reusable structure that encapsulates provenance metadata that applies to an upstream record/data objdct about the Entity, from which content of the present record was derived.
    • Range: RecordMetadata

Other properties

Comments: A Genetic Condition object can be used to compose a condition description based on component diseases and phenotypes, contributing genes, and an inheritance pattern. For now it is a simple/loose collection of features. We can define a more complex model to support more precise and nuanced characterizations, as needed in future iterations.