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 (MONDO:0005027)
..Starting node ..post-traumatic epilepsy ()
Child Nodes:
Sister Nodes:
..arthrogryposis epileptic seizures migrational brain disorder ()
..cerebral diseases of vascular origin with epilepsy ()
..cerebral malformation with epilepsy ()
..chromosomal anomaly with epilepsy as a major feature ()
..Coffin-Lowry syndrome ()
..electroclinical syndrome ()
..epilepsia partialis continua ()
..epilepsy syndrome ()
..extratemporal epilepsy ()
..generalised epilepsy ()
..idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes ()
..immune epilepsy ()
..infectious disease with epilepsy ()
..inflammatory and autoimmune disease with epilepsy ()
..metabolic disease with epilepsy ()
..metabolic epilepsy ()
..monogenic disease with epilepsy ()
..partial epilepsy ()
..post-traumatic epilepsy ()
..status epilepticus ()
..structural epilepsy ()
..variable age onset epilepsy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	43264
Name:	post-traumatic epilepsy
Definition:	Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	concussive convulsion; concussive convulsions; convulsion, concussive; convulsions, concussive; disorder, Post-traumatic seizure; disorders, Post-traumatic seizure; early Post traumatic seizures; early Post-traumatic seizure; early Post-traumatic seizures; Epilepsies, Post-traumatic; Epilepsies, tra
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal