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: neonatal epilepsy syndrome (MONDO:0020070)
Parent Node: neonatal period electroclinical syndrome (MONDO:0000412)
..Starting node ..benign neonatal seizures ()
Child Nodes:
........BFNS3 ()
........seizures, benign familial neonatal, 1 ()
........seizures, benign familial neonatal, 2 ()
........seizures, benign familial neonatal, autosomal recessive ()
Sister Nodes:
..benign familial neonatal epilepsy ()
..benign neonatal seizures ()
..early myoclonic encephalopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16027
Name:	benign neonatal seizures
Definition:	Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign Familal neonatal seizures; benign familial convulsion; benign familial convulsions; benign familial neonatal convulsions; benign familial neonatal seizures; benign neonatal convulsions; BFNS; seizures, benign familial neonatal
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal