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Enum: ChannelopathyOrganSystemEnum

Classification categories for channelopathies by affected organ system. Tag diseases like Long QT syndrome (cardiac), periodic paralysis (skeletal muscle), episodic ataxia (neurological), cystic fibrosis (epithelial).

URI: dismech:ChannelopathyOrganSystemEnum

Permissible Values

Value Meaning Description
cardiac channelopathy None Ion channel disorders primarily affecting cardiac rhythm (Long QT, Brugada, C...
skeletal muscle channelopathy None Ion channel disorders causing episodic weakness or myotonia
neurological channelopathy None Ion channel disorders affecting CNS (episodic ataxia, epilepsy, migraine)
epithelial channelopathy None Ion channel disorders affecting epithelial transport (cystic fibrosis)

Slots

Name Description
classification_value

Identifier and Mapping Information

Schema Source

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

LinkML Source

name: ChannelopathyOrganSystemEnum
description: Classification categories for channelopathies by affected organ system.
  Tag diseases like Long QT syndrome (cardiac), periodic paralysis (skeletal muscle),
  episodic ataxia (neurological), cystic fibrosis (epithelial).
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  cardiac channelopathy:
    text: cardiac channelopathy
    description: Ion channel disorders primarily affecting cardiac rhythm (Long QT,
      Brugada, CPVT)
  skeletal muscle channelopathy:
    text: skeletal muscle channelopathy
    description: Ion channel disorders causing episodic weakness or myotonia
  neurological channelopathy:
    text: neurological channelopathy
    description: Ion channel disorders affecting CNS (episodic ataxia, epilepsy, migraine)
  epithelial channelopathy:
    text: epithelial channelopathy
    description: Ion channel disorders affecting epithelial transport (cystic fibrosis)