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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: Arachnoid Cysts (D016080)
Parent Node: Dyskinesias (D020820)
..Starting node ..Bobble-head doll syndrome (C536241)
Child Nodes:
Sister Nodes:
..Ataxia (D001259) 126
..Athetosis (D001264) 3
..Bobble-head doll syndrome (C536241)
..Catalepsy (D002375)
..Chorea (D002819) 17
..Choreoathetosis/Spasticity, Episodic (C563401)
..Dyskinesia, Drug-Induced (D004409)
..Dyskinesia, Familial, with Facial Myokymia (C564676)
..Dystonia (D004421) 18
..Episodic Kinesigenic Dyskinesia 2 (C567026)
..Hyperkinesis (D006948)
..Hypokinesia (D018476) 1
..Infantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..Mental Retardation, X-Linked, Syndromic 10 (C564560)
..Microcephaly pontocerebellar hypoplasia dyskinesia (C537543)
..MIRROR MOVEMENTS 1 (OMIM:157600)
..Myoclonus (D009207) 10
..Paroxysmal Exertion-Induced Dyskinesia And Hemolytic Anemia (C567412)
..Psychomotor Agitation (D011595) 1
..Synkinesis (D046608) 2
..Tics (D020323)
..Tremor (D014202) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1339
Name:	Bobble-head doll syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D016080\|MESH:D020820
TreeNumbers:	C04.182.044/C536241 \|C04.588.614.250.387.100/C536241 \|C10.228.662.262/C536241 \|C10.500.142.100/C536241 \|C10.551.240.375.100/C536241 \|C10.597.350/C536241 \|C16.131.666.142.100/C536241 \|C23.888.592.350/C536241
Synonyms:	Bobble head doll syndrome
Slim Mappings:	Cancer\|Congenital abnormality\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C536241 MeSH: C536241 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants