Disease browser and phenotype 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

Disease Browser
Parent Node: Epilepsies, Myoclonic (D004831)
..Starting node ..Myoclonic Epilepsy, Hartung Type (C563550)
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:

7640

Name:

Myoclonic Epilepsy, Hartung Type

Definition:

Alternative IDs:

ParentIDs:

MESH:D004831

TreeNumbers:

C10.228.140.490.250/C563550

Synonyms:

Slim Mappings:

Nervous system disease

Reference:

MedGen: C563550
MeSH: C563550
OMIM: 159600;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002123	Generalized myoclonic seizure

Disease Causing ClinVar Variants