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: Hypocalcemia (D006996)
Parent Node: Neuromuscular Manifestations (D020879)
..Starting node ..Tetany (D013746)
Child Nodes:
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:	10939
Name:	Tetany
Definition:	A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. Tetany usually results from HYPOCALCEMIA or reduced serum levels of MAGNESIUM that may be associated with HYPERVENTILATION; HYPOPARATHYROIDISM; RICKETS; UREMIA; or other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1490)
Alternative IDs:
ParentIDs:	MESH:D006996\|MESH:D020879
TreeNumbers:	C10.597.613.875 \|C18.452.174.509.700 \|C23.888.592.608.875
Synonyms:	Neonatal Tetanies \|Neonatal Tetany \|Spasmophilia \|Spasmophilias \|Tetanies \|Tetanies, Neonatal \|Tetanilla \|Tetanillas \|Tetany, Neonatal
Slim Mappings:	Metabolic disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D013746 MeSH: D013746 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants