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
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- mvTool for Haplogroup
- mvTool with HmtDB
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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: Arteriosclerosis (D001161)
Parent Node: Diabetes Mellitus (D003920)
Parent Node: Epilepsies, Myoclonic (D004831)
Parent Node: Hearing Loss, Bilateral (D006312)
Parent Node: Myoclonus (D009207)
Parent Node: Nephrotic Syndrome (D009404)
Parent Node: Neurodegenerative Diseases (D019636)
..Starting node ..Feigenbaum Bergeron Richardson syndrome (C536178)
Child Nodes:
Sister 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
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4226
Name:	Feigenbaum Bergeron Richardson syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D001161\|MESH:D003920\|MESH:D004831\|MESH:D006312\|MESH:D009207\|MESH:D009404\|MESH:D019636
TreeNumbers:	C09.218.458.341.374/C536178 \|C10.228.140.490.250/C536178 \|C10.574/C536178 \|C10.597.350.500/C536178 \|C10.597.751.418.341.374/C536178 \|C12.777.419.630.643/C536178 \|C13.351.968.419.630.643/C536178 \|C14.907.137.126/C536178 \|C18.452.394.750/C536178 \|C19.246/C536178 \|C2
Synonyms:
Slim Mappings:	Cardiovascular disease\|Ear-nose-throat disease\|Endocrine system disease\|Metabolic disease\|Nervous system disease\|Signs and symptoms\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C536178 MeSH: C536178 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants