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Enum: PenetranceEnum

Penetrance classification for inheritance

URI: dismech:enum/PenetranceEnum

Permissible Values

Value Meaning Description Additional Info
COMPLETE None All individuals with the variant express the phenotype Title: Complete
INCOMPLETE None Not all individuals with the variant express the phenotype Title: Incomplete
UNKNOWN None Penetrance has not been determined Title: Unknown

Slots

Name Description
penetrance Penetrance classification for this inheritance pattern

Identifier and Mapping Information

Schema Source

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

LinkML Source

name: PenetranceEnum
description: Penetrance classification for inheritance
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  COMPLETE:
    text: COMPLETE
    description: All individuals with the variant express the phenotype
    title: Complete
  INCOMPLETE:
    text: INCOMPLETE
    description: Not all individuals with the variant express the phenotype
    title: Incomplete
  UNKNOWN:
    text: UNKNOWN
    description: Penetrance has not been determined
    title: Unknown