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 syndrome (MONDO:0015650)
..Starting node ..infantile epilepsy syndrome ()
Child 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 ()
Sister Nodes:
..adolescent-onset epilepsy syndrome ()
..adolescent/adult-onset epilepsy syndrome ()
..atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ()
..childhood-onset epilepsy syndrome ()
..cortical dysplasia-focal epilepsy syndrome ()
..DEND syndrome ()
..epilepsy-telangiectasia syndrome ()
..epileptic encephalopathy, infantile or early childhood ()
..infantile epilepsy syndrome ()
..Moynahan syndrome ()
..neonatal epilepsy syndrome ()
..neonatal/infantile epilepsy syndrome ()
..oculocerebrocutaneous syndrome ()
..Pallister-W syndrome ()
..PEHO syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20071
Name:	infantile epilepsy syndrome
Definition:	A epilepsy syndrome that occurs between 28 days to one year of life..
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	epilepsy syndrome of infancy; infantile onset epilepsy syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal