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Enum: PenetranceEnum

Penetrance classification for inheritance

URI: dismech:enum/PenetranceEnum

Permissible Values

Value Meaning Description
COMPLETE None All individuals with the variant express the phenotype
INCOMPLETE None Not all individuals with the variant express the phenotype
UNKNOWN None Penetrance has not been determined

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