Disease browser and phenotype portal

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MSeqDR-LSDB
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- mtDNA Tool:
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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Movement Disorders (D009069)
..Starting node ..Dystonic Disorders (D020821)
Child Nodes:
........Dystonia 12 (C538001)
........Dystonia 16 (C567430)
........Dystonia 17, Torsion, Autosomal Recessive (C567319)
........Dystonia 18 (C564288) 1
........Dystonia 3, Torsion, X-Linked (C564048)
........Dystonia Musculorum Deformans (D004422) 7
........Dystonia with Ringbinden (C565608)
........Dystonia, Dopa-responsive (C538007)
........Dystonia, Focal, Task-Specific (C566973)
........Dystonia-Parkinsonism, Adult-Onset (C567844)
........Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp (C535499)
........Juvenile-onset dystonia (C537704)
........Meige Syndrome (D008538)
........Musician's Dystonia (C567627)
........Myoclonic dystonia (C536096)
........Parkinsonism-Dystonia, Infantile (C567730)
........Segawa syndrome, autosomal recessive (C537537)
........Torticollis (D014103) 5
Sister Nodes:
..Akathisia, Drug-Induced (D017109)
..Angelman Syndrome (D017204) 1
..Beta-Ureidopropionase Deficiency (C563210)
..Dyskinesias (D020820) 199
..Dystonic Disorders (D020821) 31
..Essential Tremor (D020329) 3
..Guanidinoacetate methyltransferase deficiency (C537622)
..Hepatolenticular Degeneration (D006527) 2
..Multiple System Atrophy (D019578) 21
..Non-lissencephalic cortical dysplasia (C536243)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Parkinsonian Disorders (D020734) 39
..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..Pronation-Supination Of The Forearm, Impairment Of (C566757)
..Supranuclear Palsy, Progressive (D013494) 5
..Telfer Sugar Jaeger syndrome (C536955)
..Tic Disorders (D013981) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3574
Name:	Dystonic Disorders
Definition:	Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset.
Alternative IDs:
ParentIDs:	MESH:D009069
TreeNumbers:	C10.228.662.300
Synonyms:	Adult-Onset Dystonia \|Adult Onset Dystonias \|Adult-Onset Dystonias \|Adult Onset Idiopathic Focal Dystonias \|Adult-Onset Idiopathic Focal Dystonias \|Adult Onset Idiopathic Torsion Dystonias \|Adult-Onset Idiopathic Torsion Dystonias \|Autosomal Dominant Familial D
Slim Mappings:	Nervous system disease
Reference:	MedGen: D020821 MeSH: D020821 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants