MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: electroclinical syndrome (MONDO:0000411)
..Starting node ..adolescence-adult electroclinical syndrome ()
Child Nodes:
........epilepsy with generalized tonic-clonic seizures ()
........juvenile myoclonic epilepsy ()
Sister Nodes:
..adolescence-adult electroclinical syndrome ()
..childhood electroclinical syndrome ()
..infancy electroclinical syndrome ()
..neonatal period electroclinical syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	415
Name:	adolescence-adult electroclinical syndrome
Definition:	An electroclinical syndrome with onset in adolescence and adulthood.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: ADH1B; ADH1C; GABRA2; HTR2A; RCBTB1; TAS2R16;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal