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. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0016110 |
|
Obsolete |
true |
|
database_cross_reference |
Orphanet:206656 NCIT:C122787 NANDO:1200496 SCTID:424795008 GARD:20363 |
|
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 |
|
has_exact_synonym |
non-dystrophic myotonia non dystrophic myotonia |
|
IAO_0000231 | ||
IAO_0000233 | ||
id |
MONDO:0016110 |
|
in_subset |
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 |
|
preferred label |
obsolete non-dystrophic myopathy |
|
prefLabel |
obsolete non-dystrophic myopathy |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/MONDO_0016110 | MONDO | SAME_URI | |
http://purl.obolibrary.org/obo/MONDO_0016110 | MONDO | LOOM |