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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 ..Spasm (D013035)
Child Nodes:
........Behr syndrome (C537669)
........Dwarfism, Familial, With Muscle Spasms (C563447)
........Hemifacial Spasm (D019569) 1
........Satoyoshi syndrome (C536616)
........Trismus (D014313) 2
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:	10352
Name:	Spasm
Definition:	An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE.
Alternative IDs:
ParentIDs:	MESH:D020879
TreeNumbers:	C10.597.613.750 \|C23.888.592.608.750
Synonyms:	Ciliary Body Spasm \|Ciliary Body Spasms \|Generalized Spasm \|Generalized Spasms \|Muscle Spasm \|Muscle Spasms \|Muscular Spasm \|Muscular Spasms \|Spasm, Ciliary Body \|Spasm, Generalized \|Spasm, Muscle \|Spasm, Muscular \|Spasms \|Spasms, Ciliary Body \|Spasms, Generalized \|Spa
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: D013035 MeSH: D013035 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants