Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Muscular Diseases (D009135)
Parent Node: Neuromuscular Manifestations (D020879)
..Starting node ..Muscle Cramp (D009120)
Child Nodes:
........Acanthosis nigricans muscle cramps acral enlargement (C536000)
........Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps (C567088)
........Muscle Cramps, Familial (C563563)
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:	7489
Name:	Muscle Cramp
Definition:	A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease process (e.g., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398)
Alternative IDs:
ParentIDs:	MESH:D009135\|MESH:D020879
TreeNumbers:	C05.651.475 \|C10.597.613.500 \|C23.888.592.608.500
Synonyms:	Cramp \|Cramp, Limb \|Cramp, Muscle \|Cramp, Muscular \|Cramps \|Cramps, Limb \|Cramps, Muscle \|Cramps, Muscular \|Limb Cramp \|Limb Cramps \|Muscle Cramps \|Muscular Cramp \|Muscular Cramps
Slim Mappings:	Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D009120 MeSH: D009120 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants