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Disease Browser
Parent Node: Muscular Diseases (D009135)
Parent Node: Myotonia (D009222)
..Starting node ..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
Child Nodes:
Sister Nodes:
..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..Nondystrophic myotonia (C536245)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7683

Name:

Myopathy, Granulovacuolar Lobular, with Electrical Myotonia

Definition:

Alternative IDs:

ParentIDs:

MESH:D009135|MESH:D009222

TreeNumbers:

C05.651/C564974 |C10.597.613.700/C564974 |C10.668.491/C564974 |C23.888.592.608.700/C564974

Synonyms:

Slim Mappings:

Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564974
MeSH: C564974
OMIM: 254950;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0001324	Muscle weakness
4	HP:0002486	Myotonia
5	HP:0003202	Skeletal muscle atrophy

Disease Causing ClinVar Variants