MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: epilepsy (MONDO:0005027)
..Starting node ..electroclinical syndrome ()
Child Nodes:
........adolescence-adult electroclinical syndrome ()
........childhood electroclinical syndrome ()
........infancy electroclinical syndrome ()
........neonatal period electroclinical syndrome ()
Sister Nodes:
..arthrogryposis epileptic seizures migrational brain disorder ()
..cerebral diseases of vascular origin with epilepsy ()
..cerebral malformation with epilepsy ()
..chromosomal anomaly with epilepsy as a major feature ()
..Coffin-Lowry syndrome ()
..electroclinical syndrome ()
..epilepsia partialis continua ()
..epilepsy syndrome ()
..extratemporal epilepsy ()
..generalised epilepsy ()
..idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes ()
..immune epilepsy ()
..infectious disease with epilepsy ()
..inflammatory and autoimmune disease with epilepsy ()
..metabolic disease with epilepsy ()
..metabolic epilepsy ()
..monogenic disease with epilepsy ()
..partial epilepsy ()
..post-traumatic epilepsy ()
..status epilepticus ()
..structural epilepsy ()
..variable age onset epilepsy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	411
Name:	electroclinical syndrome
Definition:	An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	electro-clinical syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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