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

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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: Nervous System Diseases (D009422)
..Starting node ..Central Nervous System Diseases (D002493)
Child Nodes:
........Brain Diseases (D001927) 1149
........Central Nervous System Infections (D002494) 96
........Encephalomyelitis (D004679) 8
........Endocrine-Cerebroosteodysplasia (C567210)
........Flynn Aird syndrome (C537066)
........High Pressure Neurological Syndrome (D006610)
........Meningitis (D008581) 19
........Movement Disorders (D009069) 306
........Neurosarcoidosis (C535814)
........Ocular Motility Disorders (D015835) 109
........Pneumocephalus (D011007)
........Renal cysts and diabetes syndrome (C535520)
........Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal (C566514)
........Spinal Cord Diseases (D013118) 170
Sister Nodes:
..Alpha-Methylacyl-CoA Racemase Deficiency (C565768)
..Autoimmune Diseases of the Nervous System (D020274) 60
..Autonomic Nervous System Diseases (D001342) 51
..Central Nervous System Diseases (D002493) 1489
..Chronobiology Disorders (D021081) 5
..Congenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
..Cranial Nerve Diseases (D003389) 238
..Demyelinating Diseases (D003711) 75
..Marcus Gunn phenomenon (C535908)
..Nervous System Malformations (D009421) 567
..Nervous System Neoplasms (D009423) 89
..Neurocutaneous Syndromes (D020752) 42
..Neurodegenerative Diseases (D019636) 704
..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
..Neurologic Manifestations (D009461) 1586
..Neuromuscular Diseases (D009468) 811
..Neuronal intestinal pseudoobstruction (C537394)
..Neurotoxicity Syndromes (D020258) 20
..Norrie disease (C537849)
..Polyglucosan Body Disease, Adult Form (C564878)
..Restless Legs Syndrome (D012148) 2
..Roy Maroteaux Kremp syndrome (C535875)
..Sleep Disorders (D012893) 41
..Tang Hsi Ryu syndrome (C536897)
..Trauma, Nervous System (D020196) 73
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1900
Name:	Central Nervous System Diseases
Definition:	Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord.
Alternative IDs:
ParentIDs:	MESH:D009422
TreeNumbers:	C10.228
Synonyms:	Central Nervous System Disorders \|CNS Disease \|CNS Diseases
Slim Mappings:	Nervous system disease
Reference:	MedGen: D002493 MeSH: D002493 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants