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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: Mouth Diseases (D009059)
Parent Node: Spasm (D013035)
..Starting node ..Hemifacial Spasm (D019569)
Child Nodes:
........Hemifacial Spasm, Familial (C564198)
Sister Nodes:
..Behr syndrome (C537669)
..Dwarfism, Familial, With Muscle Spasms (C563447)
..Hemifacial Spasm (D019569) 1
..Satoyoshi syndrome (C536616)
..Trismus (D014313) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5011
Name:	Hemifacial Spasm
Definition:	Recurrent clonic contraction of facial muscles, restricted to one side. It may occur as a manifestation of compressive lesions involving the seventh cranial nerve (FACIAL NERVE DISEASES), during recovery from BELL PALSY, or in association with other disorders. (From Adams et al., Principles of Neurology, 6th ed, p1378)
Alternative IDs:
ParentIDs:	MESH:D009059\|MESH:D013035
TreeNumbers:	C07.465.364 \|C10.597.613.750.400 \|C23.888.592.608.750.400
Synonyms:	Facial Spasms, Unilateral \|Facial Spasm, Unilateral \|Hemifacial Myokymia \|Hemifacial Spasms \|Myokymia, Hemifacial \|Spasm, Hemifacial \|Spasms, Hemifacial \|Spasms, Unilateral Facial \|Spasm, Unilateral Facial \|Unilateral Facial Spasm \|Unilateral Facial Spasms
Slim Mappings:	Mouth disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D019569 MeSH: D019569 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants