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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: Basal Ganglia Diseases (D001480)
Parent Node: Dystonic Disorders (D020821)
..Starting node ..Meige Syndrome (D008538)
Child Nodes:
Sister Nodes:
..Dystonia 12 (C538001)
..Dystonia 16 (C567430)
..Dystonia 17, Torsion, Autosomal Recessive (C567319)
..Dystonia 18 (C564288) 1
..Dystonia 3, Torsion, X-Linked (C564048)
..Dystonia Musculorum Deformans (D004422) 7
..Dystonia with Ringbinden (C565608)
..Dystonia, Dopa-responsive (C538007)
..Dystonia, Focal, Task-Specific (C566973)
..Dystonia-Parkinsonism, Adult-Onset (C567844)
..Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp (C535499)
..Juvenile-onset dystonia (C537704)
..Meige Syndrome (D008538)
..Musician's Dystonia (C567627)
..Myoclonic dystonia (C536096)
..Parkinsonism-Dystonia, Infantile (C567730)
..Segawa syndrome, autosomal recessive (C537537)
..Torticollis (D014103) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6908
Name:	Meige Syndrome
Definition:	A syndrome characterized by orofacial DYSTONIA; including BLEPHAROSPASM; forceful jaw opening; lip retraction; platysma muscle spasm; and tongue protrusion. It primarily affects older adults, with an incidence peak in the seventh decade of life. (From Adams et al., Principles of Neurology, 6th ed, p108)
Alternative IDs:
ParentIDs:	MESH:D001480\|MESH:D020821
TreeNumbers:	C10.228.140.079.590 \|C10.228.662.300.500
Synonyms:	Blepharospasm Oromandibular Dyskinesia \|Blepharospasm-Oromandibular Dyskinesia \|Blepharospasm-Oromandibular Dyskinesias \|Blepharospasm Oromandibular Dystonia \|Blepharospasm-Oromandibular Dystonia \|Blepharospasm-Oromandibular Dystonias \|Blepharospasm Oromandibu
Slim Mappings:	Nervous system disease
Reference:	MedGen: D008538 MeSH: D008538 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants