Terminology Service for NFDI4Health

non-dystrophic myopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0016110


A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness. [ ]

Term info

Label

non-dystrophic myopathy

Synonyms
  • non dystrophic myotonia
  • non-dystrophic myotonia
database cross reference
Subsets

disease_grouping, obsoletion_candidate, ordo_group_of_disorders

IAO 0006012

2022-09-01

comment

Reason: grouping class. Term to consider: none

exactMatch

http://identifiers.org/snomedct/424795008, http://linkedlifedata.com/resource/umls/id/C1828221, http://purl.obolibrary.org/obo/NCIT_C122787, http://purl.obolibrary.org/obo/Orphanet_206656

id

MONDO:0016110

see also

https://github.com/monarch-initiative/mondo/issues/5045

Term relations