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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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: Brain Diseases (D001927)
Parent Node: Metabolic Diseases (D008659)
..Starting node ..Brain Diseases, Metabolic (D001928)
Child Nodes:
........Brain Diseases, Metabolic, Inborn (D020739) 218
........Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
........Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
........Ethanolaminosis (C562651)
........Glutaric aciduria 1 (C536833)
........Hepatic Encephalopathy (D006501) 2
........Kernicterus (D007647)
........Marchiafava-Bignami Disease (D054319)
........Mitochondrial Encephalomyopathies (D017237) 13
........Myelinolysis, Central Pontine (D017590)
........Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
........Reye Syndrome (D012202)
........Schofer Beetz Bohl syndrome (C535949)
........Wernicke Encephalopathy (D014899)
Sister Nodes:
..Acid-Base Imbalance (D000137) 42
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..Brain Diseases, Metabolic (D001928) 244
..Calcium Metabolism Disorders (D002128) 94
..DNA Repair-Deficiency Disorders (D049914) 95
..Glucose Metabolism Disorders (D044882) 137
..Hyperlactatemia (D065906)
..Hypermanganesemia with Dystonia Polycythemia and Cirrhosis (C548016)
..Iron Metabolism Disorders (D019189) 23
..Lipid Metabolism Disorders (D052439) 189
..Malabsorption Syndromes (D008286) 29
..Metabolic Syndrome X (D024821) 1
..Metabolism, Inborn Errors (D008661) 886
..Mitochondrial Diseases (D028361) 114
..Phosphorus Metabolism Disorders (D010760) 25
..Porphyrias (D011164) 18
..Proteostasis Deficiencies (D057165) 55
..SHORT syndrome (C537327)
..Skin Diseases, Metabolic (D012875) 33
..Wasting Syndrome (D019282) 1
..Water-Electrolyte Imbalance (D014883) 31
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1447
Name:	Brain Diseases, Metabolic
Definition:	Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.
Alternative IDs:
ParentIDs:	MESH:D001927\|MESH:D008659
TreeNumbers:	C10.228.140.163 \|C18.452.132
Synonyms:	Acquired Metabolic Diseases, Brain \|Acquired Metabolic Diseases, Nervous System \|Acquired Metabolic Encephalopathies \|Acquired Metabolic Encephalopathy \|Brain Disease, Metabolic \|Brain Diseases, Metabolic, Acquired \|Brain Disorder, Metabolic \|Brain Disorders, M
Slim Mappings:	Metabolic disease\|Nervous system disease
Reference:	MedGen: D001928 MeSH: D001928 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants