Mondo Disease Ontology

Last uploaded: May 9, 2024
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Preferred Name

obsolete non-dystrophic myopathy
Synonyms

non dystrophic myotonia

non-dystrophic myotonia
Definitions

OBSOLETE. 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. Reason: grouping class. Term to consider: none
ID

http://purl.obolibrary.org/obo/MONDO_0016110
Obsolete

true
comment

Reason: grouping class. Term to consider: none
database_cross_reference

GARD:20363

SCTID:424795008

Orphanet:206656

NCIT:C122787

UMLS:C1828221
definition

OBSOLETE. 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.
deprecated

true
exactMatch

http://purl.obolibrary.org/obo/NCIT_C122787

http://purl.obolibrary.org/obo/Orphanet_206656

http://linkedlifedata.com/resource/umls/id/C1828221

http://identifiers.org/snomedct/424795008
has_exact_synonym

non dystrophic myotonia

non-dystrophic myotonia
IAO_0000231

http://purl.obolibrary.org/obo/OMO_0001000
IAO_0000233

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

MONDO:0016110
in_subset

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#disease_grouping

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders
label

obsolete non-dystrophic myopathy
notation

MONDO:0016110
prefLabel

obsolete non-dystrophic myopathy
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