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: generalised epilepsy (MONDO:0005579)
Parent Node: infantile epilepsy syndrome (MONDO:0020071)
..Starting node ..generalized epilepsy with febrile seizures plus ()
Child Nodes:
........GEFSP4 ()
........GEFSP6 ()
........GEFSP8 ()
........generalized epilepsy with febrile seizures plus, type 1 ()
........generalized epilepsy with febrile seizures plus, type 2 ()
........generalized epilepsy with febrile seizures plus, type 3 ()
........generalized epilepsy with febrile seizures plus, type 7 ()
........generalized epilepsy with febrile seizures plus, type 9 ()
Sister Nodes:
..benign partial infantile seizures ()
..early infantile epileptic encephalopathy without suppression burst ()
..generalized epilepsy with febrile seizures plus ()
..idiopathic hemiconvulsion-hemiplegia syndrome ()
..infant epilepsy with migrant focal crisis ()
..infantile neuronal ceroid lipofuscinosis ()
..infantile spasms-broad thumbs syndrome ()
..infantile-onset mesial temporal lobe epilepsy with severe cognitive regression ()
..myoclonic epilepsy in non-progressive encephalopathies ()
..progressive myoclonic epilepsy with dystonia ()
..undetermined early-onset epileptic encephalopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18214
Name:	generalized epilepsy with febrile seizures plus
Definition:	Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	epilepsy, generalized, with febrile seizures plus; GEFS+; generalized epilepsy with febrile seizures-plus
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal