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
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- 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 ..Autonomic Nervous System Diseases (D001342)
Child Nodes:
........Adie Syndrome (D000270) 1
........Autonomic Dysreflexia (D020211)
........Complex Regional Pain Syndromes (D020918) 2
........dopamine beta hydroxylase deficiency (C535600)
........Harlequin syndrome (C535634)
........Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
........Horner Syndrome (D006732) 1
........Motor neuropathy peripheral with dysautonomia (C536988)
........Plexosarcoma (C537517)
........Primary Dysautonomias (D054969) 36
........Sweating, Gustatory (D013547)
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:	1094
Name:	Autonomic Nervous System Diseases
Definition:	Diseases of the parasympathetic or sympathetic divisions of the AUTONOMIC NERVOUS SYSTEM; which has components located in the CENTRAL NERVOUS SYSTEM and PERIPHERAL NERVOUS SYSTEM. Autonomic dysfunction may be associated with HYPOTHALAMIC DISEASES; BRAIN STEM disorders; SPINAL CORD DISEASES; and PERIPHERAL NERVOUS SYSTEM DISEASES. Manifestations include impairments of vegetative functions including the maintenance of BLOOD PRESSURE; HEART RATE; pupil function; SWEATING; REPRODUCTIVE AND URINARY PHYSIOLOGY; and DIGESTION.
Alternative IDs:
ParentIDs:	MESH:D009422
TreeNumbers:	C10.177
Synonyms:	ANS (Autonomic Nervous System) Diseases \|ANS Disease \|ANS Diseases \|Autonomic Central Nervous System Diseases \|Autonomic Disease \|Autonomic Diseases \|Autonomic Dysfunction, Segmental \|Autonomic Dysfunctions, Segmental \|Autonomic Nervous System Disorders \|Autonomi
Slim Mappings:	Nervous system disease
Reference:	MedGen: D001342 MeSH: D001342 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants