Disease browser and phenotype portal

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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

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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)
Parent Node: Delirium, Dementia, Amnestic, Cognitive Disorders (D019965)
..Starting node ..Dementia (D003704)
Child Nodes:
........AIDS Dementia Complex (D015526)
........Alzheimer Disease (D000544) 24
........Amyloidosis, Cerebral, with Spongiform Encephalopathy (C535800)
........Amyotrophic Lateral Sclerosis, Juvenile, with Dementia (C565956)
........AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
........Aphasia, Primary Progressive (D018888) 1
........Ataxia with Myoclonic Epilepsy and Presenile Dementia (C565933)
........Creutzfeldt-Jakob Syndrome (D007562) 3
........Dementia, familial Danish (C538209)
........Dementia, Vascular (D015140) 3
........Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques (C565115)
........Diffuse Neurofibrillary Tangles with Calcification (D055956)
........Frontotemporal Lobar Degeneration (D057174) 12
........Huntington Disease (D006816) 3
........Huntington Disease-Like 2 (C564708)
........Jensen syndrome (C537568)
........Kluver-Bucy Syndrome (D020232) 1
........Kohlschutter Tonz syndrome (C537213)
........Lewy Body Disease (D020961) 3
........MAST Syndrome (C565409)
........Motor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
........Presenile dementia, Kraepelin type (C535273)
........Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
........Wright Dyck syndrome (C536749)
Sister Nodes:
..Amnesia (D000647) 6
..Cognition Disorders (D003072) 8
..Consciousness Disorders (D003244) 11
..Delirium (D003693)
..Dementia (D003704) 73
..Dyslexia, Acquired (D004411) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3163
Name:	Dementia
Definition:	An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.
Alternative IDs:
ParentIDs:	MESH:D001927\|MESH:D019965
TreeNumbers:	C10.228.140.380 \|F03.087.400
Synonyms:	Amentia \|Amentias \|Dementia, Familial \|Dementias \|Dementias, Familial \|Dementias, Senile Paranoid \|Familial Dementia \|Familial Dementias \|Paranoid Dementia, Senile \|Paranoid Dementias, Senile \|Senile Paranoid Dementia \|Senile Paranoid Dementias
Slim Mappings:	Mental disorder\|Nervous system disease
Reference:	MedGen: D003704 MeSH: D003704 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants