Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Epilepsy (D004827)
..Starting node ..Epilepsy, Generalized (D004829)
Child Nodes:
........Epilepsy, Absence (D004832) 1
........Epilepsy, Idiopathic Generalized (C562694)
........Epilepsy, Tonic-Clonic (D004830) 1
........Generalized Epilepsy and Paroxysmal Dyskinesia (C563719)
........Generalized Epilepsy with Febrile Seizures Plus (C565808)
........Generalized Epilepsy With Febrile Seizures Plus, 7 (C567827)
........Generalized Epilepsy With Febrile Seizures Plus, Type 1 (C565809)
........Generalized Epilepsy With Febrile Seizures Plus, Type 2 (C565810)
........Generalized Epilepsy With Febrile Seizures Plus, Type 3 (C565811)
........Generalized Epilepsy With Febrile Seizures Plus, Type 4 (C565227)
........Generalized Epilepsy With Febrile Seizures Plus, Type 5 (C565812)
........Generalized Epilepsy With Febrile Seizures Plus, Type 6 (C567371)
........GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8 (OMIM:613828)
........Nodding Syndrome (D064128)
........PHOTOPAROXYSMAL RESPONSE 2 (OMIM:609572)
........Spasms, Infantile (D013036) 9
Sister Nodes:
..AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
..Alopecia epilepsy oligophrenia syndrome of Moynahan (C537052)
..Alopecia, epilepsy, pyorrhea, mental subnormality (C537057)
..Amish Infantile Epilepsy Syndrome (C563799)
..Arthrogryposis epileptic seizures migrational brain disorder (C537442)
..Battaglia Neri syndrome (C537662)
..BETA-AMINO ACIDS, RENAL TRANSPORT OF (OMIM:109660)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Boudhina Yedes Khiari syndrome (C537939)
..CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
..Coffin syndrome 1 (C536435)
..Developmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..Epilepsies, Myoclonic (D004831) 26
..Epilepsies, Partial (D004828) 26
..Epilepsy occipital calcifications (C535496)
..Epilepsy telangiectasia (C535497)
..Epilepsy, Benign Neonatal (D020936) 13
..Epilepsy, Benign Neonatal, 1, And/Or Myokymia (C567743)
..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
..Epilepsy, Generalized (D004829) 27
..EPILEPSY, HOT WATER, 1 (OMIM:613339)
..EPILEPSY, HOT WATER, 2 (OMIM:613340)
..Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation (C565587)
..Epilepsy, Post-Traumatic (D004834)
..Epilepsy, Reflex (D020195)
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Fryns-Aftimos Syndrome (C565258)
..Gurrieri Sammito Bellussi syndrome (C537625)
..HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT (OMIM:300049)
..Hyperekplexia and Epilepsy (C564474)
..Kifafa seizure disorder (C537708)
..Kohlschutter Tonz syndrome (C537213)
..Kuzniecky syndrome (C538091)
..Landau-Kleffner Syndrome (D018887)
..Lennox Gastaut Syndrome (D065768) 1
..MEHMO syndrome (C537451)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Mental Retardation, X-Linked, with Epilepsy (C564516)
..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..Pyridoxine-dependent epilepsy (C536254)
..Ramon Syndrome (C535285)
..Retinal Degeneration and Epilepsy (C564847)
..Rud Syndrome (C535878)
..Sandhaus Ben-Ami syndrome (C537233)
..Seizures (D012640) 40
..Seizures, Febrile (D003294) 21
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Status Epilepticus (D013226) 1
..Wittwer syndrome (C536737)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3871
Name:	Epilepsy, Generalized
Definition:	Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)
Alternative IDs:
ParentIDs:	MESH:D004827
TreeNumbers:	C10.228.140.490.375
Synonyms:	Akinetic Epilepsies \|Akinetic Epilepsy \|Atonic Epilepsies \|Atonic Epilepsy \|Convulsive Epilepsies, Generalized \|Convulsive Epilepsy, Generalized \|Convulsive Generalized Seizure Disorder \|Convulsive Seizure Disorder, Generalized \|Epilepsies, Akinetic \|Epilepsies,
Slim Mappings:	Nervous system disease
Reference:	MedGen: D004829 MeSH: D004829 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants