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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 ..Muscle Hypertonia (D009122)
Child Nodes:
........Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
........Muscle Rigidity (D009127) 3
........Muscle Spasticity (D009128) 17
........Muscular Hypertonia, Lethal (C564982)
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:	7491
Name:	Muscle Hypertonia
Definition:	Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES.
Alternative IDs:
ParentIDs:	MESH:D020879
TreeNumbers:	C10.597.613.550 \|C23.888.592.608.550
Synonyms:	Detrusor Muscle Hypertonia \|Detrusor Muscle Hypertonias \|Hypermyotonia \|Hypermyotonias \|Hypertonia, Detrusor Muscle \|Hypertonia, Infantile \|Hypertonia, Muscle \|Hypertonia, Neonatal \|Hypertonias, Detrusor Muscle \|Hypertonias, Infantile \|Hypertonias, Muscle \|Hyperton
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: D009122 MeSH: D009122 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants