Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Neuromuscular Manifestations (D020879)
..Starting node ..Myotonia (D009222)
Child Nodes:
........Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
........Nondystrophic myotonia (C536245)
Sister Nodes:
..Fasciculation (D005207) 1
..Muscle Cramp (D009120) 3
..Muscle Hypertonia (D009122) 24
..Muscle Hypotonia (D009123) 30
..Muscle Weakness (D018908) 5
..Muscular Atrophy (D009133) 16
..Myokymia (D020385) 5
..Myotonia (D009222) 2
..Spasm (D013035) 8
..Tetany (D013746)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7733
Name:	Myotonia
Definition:	Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS.
Alternative IDs:
ParentIDs:	MESH:D020879
TreeNumbers:	C10.597.613.700 \|C23.888.592.608.700
Synonyms:	Myotonia, Percussion \|Myotonias \|Myotonias, Percussion \|Myotonic Phenomenon \|Myotonic Phenomenons \|Percussion Myotonia \|Percussion Myotonias \|Phenomenon, Myotonic \|Phenomenons, Myotonic
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: D009222 MeSH: D009222 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants