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Enum: GroupingBasisEnum

The axis (or axes) on which a disease Grouping is drawn. A grouping assembles already-distinct Disease entries into an explicit union; this enum records WHY they belong together, supporting an audit of the grouping boundary. Multivalued — a grouping may rest on more than one basis (e.g., the mucopolysaccharidoses are grouped on both a shared mechanism and a shared gene/enzyme family).

URI: dismech:enum/GroupingBasisEnum

Permissible Values

Value Meaning Description Additional Info
SHARED_MECHANISM None Members converge on a common pathophysiological mechanism or final-common-pat... Title: Shared mechanism
SHARED_GENE_FAMILY None Members are caused by variants in the same gene, gene family, or functionally... Title: Shared gene family
SHARED_PATHWAY None Members perturb the same biological pathway or process Title: Shared pathway
SHARED_PHENOTYPE None Members share a defining clinical phenotype or phenotypic spectrum Title: Shared phenotype
SHARED_TREATMENT_RESPONSE None Members are grouped by a shared therapeutic vulnerability or response to a co... Title: Shared treatment response
CLINICAL_CONVENTION None Members are grouped by established clinical or nosological convention rather ... Title: Clinical convention
OTHER None A grouping basis that does not fit the categories above Title: Other

Slots

Name Description
grouping_basis The axis or axes on which this grouping is drawn (records why the members bel...

Identifier and Mapping Information

Schema Source

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

LinkML Source

name: GroupingBasisEnum
description: The axis (or axes) on which a disease Grouping is drawn. A grouping assembles
  already-distinct Disease entries into an explicit union; this enum records WHY they
  belong together, supporting an audit of the grouping boundary. Multivalued — a grouping
  may rest on more than one basis (e.g., the mucopolysaccharidoses are grouped on
  both a shared mechanism and a shared gene/enzyme family).
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  SHARED_MECHANISM:
    text: SHARED_MECHANISM
    description: Members converge on a common pathophysiological mechanism or final-common-pathway
      (often a shared mechanism module).
    title: Shared mechanism
  SHARED_GENE_FAMILY:
    text: SHARED_GENE_FAMILY
    description: Members are caused by variants in the same gene, gene family, or
      functionally related set of genes/enzymes.
    title: Shared gene family
  SHARED_PATHWAY:
    text: SHARED_PATHWAY
    description: Members perturb the same biological pathway or process.
    title: Shared pathway
  SHARED_PHENOTYPE:
    text: SHARED_PHENOTYPE
    description: Members share a defining clinical phenotype or phenotypic spectrum.
    title: Shared phenotype
  SHARED_TREATMENT_RESPONSE:
    text: SHARED_TREATMENT_RESPONSE
    description: Members are grouped by a shared therapeutic vulnerability or response
      to a common class of treatment.
    title: Shared treatment response
  CLINICAL_CONVENTION:
    text: CLINICAL_CONVENTION
    description: Members are grouped by established clinical or nosological convention
      rather than a single mechanistic axis.
    title: Clinical convention
  OTHER:
    text: OTHER
    description: A grouping basis that does not fit the categories above.
    title: Other