Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- mtDNA Tool:
- mvTool
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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: Nervous System Diseases (D009422)
..Starting node ..Neurodegenerative Diseases (D019636)
Child Nodes:
........Familial apoceruloplasmin deficiency (C536004)
........Feigenbaum Bergeron Richardson syndrome (C536178)
........Heredodegenerative Disorders, Nervous System (D020271) 543
........Idiopathic basal ganglia calcification 1 (C536275)
........Lewy Body Disease (D020961) 3
........Motor Neuron Disease (D016472) 64
........Multiple System Atrophy (D019578) 21
........NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
........NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
........Neuronal intranuclear inclusion disease (C537395)
........Olivopontocerebellar Atrophies (D009849) 15
........Paraneoplastic Syndromes, Nervous System (D020361) 10
........Parkinson Disease (D010300) 24
........PEHO syndrome (C536317)
........Postpoliomyelitis Syndrome (D016262)
........Prion Diseases (D017096) 12
........Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant (C565326)
........Shy-Drager Syndrome (D012791)
........Spastic Pseudosclerosis (C563024)
........Subacute Combined Degeneration (D052879)
........Tauopathies (D024801) 32
........TDP-43 Proteinopathies (D057177) 32
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:	7946
Name:	Neurodegenerative Diseases
Definition:	Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.
Alternative IDs:
ParentIDs:	MESH:D009422
TreeNumbers:	C10.574
Synonyms:	Degenerative Condition, Neurologic \|Degenerative Conditions, Neurologic \|Degenerative Diseases, Central Nervous System \|Degenerative Diseases, Nervous System \|Degenerative Diseases, Neurologic \|Degenerative Diseases, Spinal Cord \|Degenerative Neurologic Diseas
Slim Mappings:	Nervous system disease
Reference:	MedGen: D019636 MeSH: D019636 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants