Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
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- mvTool for Haplogroup
- mvTool with HmtDB
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- MitoTIP tRNA Scoring
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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: Central Nervous System Diseases (D002493)
..Starting node ..Movement Disorders (D009069)
Child Nodes:
........Akathisia, Drug-Induced (D017109)
........Angelman Syndrome (D017204) 1
........Beta-Ureidopropionase Deficiency (C563210)
........Dyskinesias (D020820) 199
........Dystonic Disorders (D020821) 31
........Essential Tremor (D020329) 3
........Guanidinoacetate methyltransferase deficiency (C537622)
........Hepatolenticular Degeneration (D006527) 2
........Multiple System Atrophy (D019578) 21
........Non-lissencephalic cortical dysplasia (C536243)
........Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
........Parkinsonian Disorders (D020734) 39
........Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
........Pronation-Supination Of The Forearm, Impairment Of (C566757)
........Supranuclear Palsy, Progressive (D013494) 5
........Telfer Sugar Jaeger syndrome (C536955)
........Tic Disorders (D013981) 3
Sister 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
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7405
Name:	Movement Disorders
Definition:	Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.
Alternative IDs:
ParentIDs:	MESH:D002493
TreeNumbers:	C10.228.662
Synonyms:	Dyskinesia, Lingual-Facial-Buccal \|Dyskinesia, Linguofacial \|Dyskinesia, Oral \|Dyskinesia, Oral-facial \|Dyskinesia, Orofacial \|Dyskinesias, Lingual-Facial-Buccal \|Dyskinesias, Linguofacial \|Dyskinesias, Oral \|Dyskinesias, Oral-facial \|Dyskinesias, Orofacial \|Dyski
Slim Mappings:	Nervous system disease
Reference:	MedGen: D009069 MeSH: D009069 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants