Disease browser and phenotype portal

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MSeqDR-LSDB
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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Dyskinesias (D020820)
..Starting node ..Myoclonus (D009207)
Child Nodes:
........Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia (C566188)
........Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
........EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
........Feigenbaum Bergeron Richardson syndrome (C536178)
........Herrmann syndrome (C538113)
........Jankovic Rivera syndrome (C537563)
........Myoclonus, Cerebellar Ataxia, and Deafness (C563549)
........Nystagmus, Myoclonic (C564088)
........Opsoclonus-Myoclonus Syndrome (D053578) 1
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:	7643
Name:	Myoclonus
Definition:	Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
Alternative IDs:
ParentIDs:	MESH:D020820
TreeNumbers:	C10.597.350.500 \|C23.888.592.350.500
Synonyms:	Action Myoclonus \|Extremity Myoclonus, Lower \|Extremity Myoclonus, Upper \|Eyelid Myoclonus \|Intention Myoclonus \|Jerking, Myoclonic \|Jerk, Myoclonic \|Jerks, Myoclonic \|Lower Extremity Myoclonus \|Myoclonic Jerk \|Myoclonic Jerking \|Myoclonic Jerks \|Myoclonus, Action \|M
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: D009207 MeSH: D009207 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants