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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), ORAI1 or STIM1 deficiency (immune). Disorders of ion pumps (e.g. ATP1A3, ATP1A2 Na+/K+-ATPase) are not channelopathies in this sense; the Channelopathies grouping requires an ion channel or ion channel regulator activity.

URI: dismech:enum/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)
immune channelopathy None Ion channel disorders whose principal consequence is immune dysfunction, such...

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), ORAI1 or STIM1 deficiency
  (immune). Disorders of ion pumps (e.g. ATP1A3, ATP1A2 Na+/K+-ATPase) are not channelopathies
  in this sense; the Channelopathies grouping requires an ion channel or ion channel
  regulator activity.
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)
  immune channelopathy:
    text: immune channelopathy
    description: Ion channel disorders whose principal consequence is immune dysfunction,
      such as loss of store-operated calcium entry in lymphocytes (ORAI1 and STIM1
      deficiency)