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: Brain Diseases (D001927)
..Starting node ..Epilepsy (D004827)
Child 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)
Sister Nodes:
..Akinetic Mutism (D000405)
..Amblyopia (D000550) 2
..Amnesia, Transient Global (D020236)
..Auditory Diseases, Central (D001304) 19
..Baraitser Brett Piesowicz syndrome (C537905)
..Basal Ganglia Diseases (D001480) 102
..Beta-Ureidopropionase Deficiency (C563210)
..Brain Abscess (D001922) 1
..Brain Damage, Chronic (D001925) 13
..Brain Death (D001926)
..Brain Diseases, Metabolic (D001928) 244
..Brain Edema (D001929) 1
..Brain Injuries (D001930) 11
..Brain Neoplasms (D001932) 30
..Cerebellar Diseases (D002526) 162
..Cerebrovascular Disorders (D002561) 108
..Colpocephaly (C535973)
..Crome syndrome (C536216)
..Dementia (D003704) 73
..Dermatoleukodystrophy (C538220)
..Diffuse Cerebral Sclerosis of Schilder (D002549) 3
..Encephalitis (D004660) 32
..Encephalomalacia (D004678) 2
..Epilepsy (D004827) 196
..Granulomas, congenital cerebral (C537294)
..Hashimoto's encephalitis (C535841)
..Headache Disorders (D020773) 26
..Hydrocephalus (D006849) 52
..Hypothalamic Diseases (D007027) 80
..Hypoxia, Brain (D002534) 2
..Intracranial Hypertension (D019586) 57
..Intracranial Hypotension (D019585)
..Keratosis follicularis dwarfism cerebral atrophy (C536158)
..Kluver-Bucy Syndrome (D020232) 1
..Leukoencephalopathies (D056784) 70
..Macrogyria, pseudobulbar palsy and mental retardation (C537722)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..Neu Laxova syndrome (C536405)
..Neuroaxonal Dystrophies (D019150) 13
..Non-lissencephalic cortical dysplasia (C536243)
..RAJAB SYNDROME (OMIM:613658)
..Rambaud Galian syndrome (C535283)
..Sener syndrome (C537579)
..Sepsis-Associated Encephalopathy (D065166)
..Spastic Pseudosclerosis (C563024)
..Subdural Effusion (D013353)
..Thalamic Diseases (D013786) 1
..Thyrocerebral-retinal syndrome (C536908)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3852
Name:	Epilepsy
Definition:	A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Alternative IDs:
ParentIDs:	MESH:D001927
TreeNumbers:	C10.228.140.490
Synonyms:	Aura \|Auras \|Awakening Epilepsy \|Cryptogenic Epilepsies \|Cryptogenic Epilepsy \|Epilepsies \|Epilepsies, Cryptogenic \|Epilepsy, Awakening \|Epilepsy, Cryptogenic \|Epileptic Seizure \|Epileptic Seizures \|Seizure Disorder \|Seizure Disorders \|Seizure, Epileptic \|Seizures, Ep
Slim Mappings:	Nervous system disease
Reference:	MedGen: D004827 MeSH: D004827 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants