Disease browser and phenotype portal

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MSeqDR-LSDB
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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: Brain Diseases (D001927)
..Starting node ..Cerebellar Diseases (D002526)
Child Nodes:
........Arima syndrome (C537430)
........Behrens Baumann Dust syndrome (C537670)
........Cerebellar Ataxia (D002524) 70
........Cerebellar degeneration, subacute (C535352)
........CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 (OMIM:602197)
........Cerebellar Neoplasms (D002528)
........Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
........Cerebelloparenchymal Disorder VI (C563564)
........Dandy-Walker Syndrome (D003616) 13
........Dykes Markes Harper syndrome (C535727)
........Dystonia with Cerebellar Atrophy (C567131)
........Joubert syndrome 1 (C536293)
........Joubert Syndrome 10 (C567582)
........Joubert syndrome 2 (C536294)
........Joubert syndrome 3 (C536295)
........Joubert syndrome 4 (C536296)
........Joubert syndrome 5 (C537688)
........Joubert syndrome 6 (C537689)
........Joubert Syndrome 7 (C566916)
........Joubert Syndrome 8 (C567358)
........Joubert Syndrome 9 (C567364)
........Miller Fisher Syndrome (D019846)
........Paraneoplastic Cerebellar Degeneration (D020362)
........Pontocerebellar Hypoplasia (C580383)
........Pontocerebellar Hypoplasia Type 2B (C567325)
........Pontocerebellar Hypoplasia Type 2C (C567324)
........Porencephaly cerebellar hypoplasia malformations (C536336)
........Spinocerebellar Degenerations (D013132) 85
........Stevenson-Carey Syndrome (C567446)
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:	1925
Name:	Cerebellar Diseases
Definition:	Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
Alternative IDs:
ParentIDs:	MESH:D001927
TreeNumbers:	C10.228.140.252
Synonyms:	Cerebellar Disease \|Cerebellar Disorder \|Cerebellar Disorders \|Cerebellar Dysfunction \|Cerebellar Dysfunctions \|Cerebellar Syndrome \|Cerebellar Syndromes \|Cerebellum Disease \|Cerebellum Diseases \|Disease, Cerebellar \|Disease, Cerebellum \|Disorder, Cerebellar \|Dysfun
Slim Mappings:	Nervous system disease
Reference:	MedGen: D002526 MeSH: D002526 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants