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)
Parent Node: Neurologic Manifestations (D009461)
..Starting node ..Seizures (D012640)
Child Nodes:
........Adams Nance syndrome (C538224)
........Alcohol Withdrawal Seizures (D020270)
........Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
........Baraitser Rodeck Garner syndrome (C537906)
........Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
........Chromosome 15q13.3 Microdeletion Syndrome (C567439)
........Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
........Copper deficiency, familial benign (C535468)
........Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
........Dysmyelination With Jaundice (C565610)
........EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
........EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
........EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
........EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
........Hyper-Beta-Alaninemia (C562684)
........Hyperleucine-Isoleucinemia (C562674)
........Hyperphosphatemia, Polyuria, and Seizures (C565494)
........Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
........Hypotonia, Seizures, And Precocious Puberty (C567566)
........Infantile convulsions and paroxysmal choreoathetosis, familial (C535522)
........Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
........Mental retardation, X-linked, syndromic 5 (C535773)
........Methionine Malabsorption Syndrome (C562682)
........Microcephaly seizures genital hypoplasia (C537540)
........Microcephaly seizures mental retardation heart disorders (C537544)
........Microcephaly sparse hair mental retardation seizures (C537545)
........MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
........MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
........Muller Barth Menger syndrome (C537370)
........PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
........Partington X-linked mental retardation syndrome (C536300)
........Perniola Krajewska Carnevale syndrome (C536660)
........Phosphoglycerate Dehydrogenase Deficiency (C566618)
........Phosphoserine Aminotransferase Deficiency (C567032)
........Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
........Qazi Markouizos syndrome (C536259)
........SeSAME syndrome (C557674)
........Tranebjaerg Svejgaard syndrome (C536978)
........Warman Mulliken Hayward syndrome (C536684)
........X-linked mental retardation Gustavson type (C536759)
Sister Nodes:
..Cerebrospinal Fluid Leak (D065634) 2
..Decerebrate State (D003655)
..Diabetes Mellitus, Permanent Neonatal, With Neurologic Features (C563424)
..Dyskinesias (D020820) 199
..Gait Disorders, Neurologic (D020233) 2
..Meningism (D008580)
..Neurobehavioral Manifestations (D019954) 701
..Neurogenic Inflammation (D020078)
..Neuromuscular Manifestations (D020879) 103
..Orthostatic Intolerance (D054971) 8
..Pain (D010146) 55
..Paralysis (D010243) 83
..Paresis (D010291) 10
..Psychophysiologic Disorders (D011602)
..Pupil Disorders (D011681) 20
..Reflex, Abnormal (D012021) 5
..Seizures (D012640) 40
..Sensation Disorders (D012678) 478
..Sleep Disorders (D012893) 41
..Susac Syndrome (D055955)
..Urinary Bladder, Neurogenic (D001750)
..Vertigo (D014717) 5
..Voice Disorders (D014832) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10108
Name:	Seizures
Definition:	Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or 'seizure disorder.'
Alternative IDs:
ParentIDs:	MESH:D004827\|MESH:D009461
TreeNumbers:	C10.228.140.490.631 \|C10.597.742 \|C23.888.592.742
Synonyms:	Auditory Seizure \|Auditory Seizures \|Clonic Seizure \|Clonic Seizures \|Convulsion \|Convulsion, Non Epileptic \|Convulsion, Non-Epileptic \|Convulsions \|Convulsions, Non-Epileptic \|Convulsive Seizure \|Convulsive Seizures \|Focal Seizure \|Focal Seizures \|Generalized Seizur
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: D012640 MeSH: D012640 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants