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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

Disease Browser
Parent Node: Epilepsies, Myoclonic (D004831)
..Starting node ..Epilepsy, Myoclonic, Benign Adult Familial, Type 2 (C564313)
Child Nodes:
Sister Nodes:
..Ataxia with Myoclonic Epilepsy and Presenile Dementia (C565933)
..Deafness, Congenital, and Familial Myoclonic Epilepsy (C565649)
..EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
..Epilepsy, Familial Adult Myoclonic, 3 (C567098)
..Epilepsy, Myoclonic, Benign Adult Familial, Type 1 (C563399)
..Epilepsy, Myoclonic, Benign Adult Familial, Type 2 (C564313)
..Familial encephalopathy with neuroserpin inclusion bodies (C536841)
..Feigenbaum Bergeron Richardson syndrome (C536178)
..Hydroxylysinuria (C565502)
..Myoclonic Epilepsies, Progressive (D020191) 10
..Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
..Myoclonic Epilepsy, Hartung Type (C563550)
..Myoclonic Epilepsy, Juvenile (D020190)
..Photoparoxysmal Response 3 (C563695)
..Spastic Paraplegia With Myoclonic Epilepsy (C564810)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3877
Name:	Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Definition:
Alternative IDs:
ParentIDs:	MESH:D004831
TreeNumbers:	C10.228.140.490.250/C564313
Synonyms:	BAFME2 \|Benign Adult Familial Myoclonic Epilepsy 2 \|Cortical Myoclonus And Epilepsy, Autosomal Dominant \|Epilepsy, Familial Adult Myoclonic 2 \|FAME2
Slim Mappings:	Nervous system disease
Reference:	MedGen: C564313 MeSH: C564313 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants