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:
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- HBCR Exome (Retired)
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- Data - Awsomics GeEx
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- Pedigree Maker
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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: Cerebrovascular Disorders (D002561)
Parent Node: Dementia (D003704)
Parent Node: Intracranial Arteriosclerosis (D002537)
Parent Node: Leukoencephalopathies (D056784)
..Starting node ..Dementia, Vascular (D015140)
Child Nodes:
........CADASIL (D046589) 1
........Dementia, Multi-Infarct (D015161)
Sister Nodes:
..Ataxia, Spastic, 3, Autosomal Recessive (C566956)
..Brain Small Vessel Disease with Hemorrhage (C564372)
..Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (C563990)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Dementia, Vascular (D015140) 3
..Demyelinating Autoimmune Diseases, CNS (D020278) 15
..Gliosis, Familial Progressive Subcortical (C565634)
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
..Hereditary Diffuse Leukoencephalopathy with Spheroids (C580150)
..Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema (C563852)
..Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (C535888)
..Leukoencephalopathy, Cystic, Without Megalencephaly (C567845)
..Leukoencephalopathy, Progressive Multifocal (D007968)
..Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..Posterior Leukoencephalopathy Syndrome (D054038)
..Ribose 5-Phosphate Isomerase Deficiency (C563212)
..Telencephalic leukoencephalopathy (C536954)
..Vanishing White Matter Leukodystrophy with Ovarian Failure (C565836)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3168
Name:	Dementia, Vascular
Definition:	An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)
Alternative IDs:
ParentIDs:	MESH:D002537\|MESH:D002561\|MESH:D003704\|MESH:D056784
TreeNumbers:	C10.228.140.300.400 \|C10.228.140.300.510.800.500 \|C10.228.140.380.230 \|C10.228.140.695.500 \|C14.907.137.126.372.500 \|C14.907.253.560.350.500 \|F03.087.400.350
Synonyms:	Acute Onset Vascular Dementia \|Arteriosclerotic Dementia \|Arteriosclerotic Dementias \|Arteriosclerotic Encephalopathies, Subcortical \|Arteriosclerotic Encephalopathy, Subcortical \|Binswanger Disease \|Binswanger Encephalopathy \|Binswanger's Disease \|Binswangers D
Slim Mappings:	Cardiovascular disease\|Mental disorder\|Nervous system disease
Reference:	MedGen: D015140 MeSH: D015140 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants