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: adolescence-adult electroclinical syndrome (MONDO:0000415)
Parent Node: adolescent/adult-onset epilepsy syndrome (MONDO:0100030)
..Starting node ..epilepsy with generalized tonic-clonic seizures ()
Child Nodes:
Sister Nodes:
..autosomal dominant epilepsy with auditory features ()
..epilepsy with generalized tonic-clonic seizures ()
..familial temporal lobe epilepsy syndrome ()
..juvenile absence epilepsy ()
..juvenile myoclonic epilepsy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5754
Name:	epilepsy with generalized tonic-clonic seizures
Definition:	A generalized tonic-clonic seizure.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	epileptic seizures, tonic-clonic; grand Mal epilepsy; tonic-clonic epilepsy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal