MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: cardiomyopathy (MONDO:0004994)
Parent Node: coxsackievirus infectious disease (MONDO:0005721)
Parent Node: nutritional deficiency disease (MONDO:0006873)
..Starting node ..Keshan disease ()
Child Nodes:
Sister Nodes:
..acquired night blindness ()
..ariboflavinosis ()
..ascorbic acid deficiency ()
..choline deficiency disease ()
..endemic goiter ()
..folic acid deficiency anemia ()
..iron deficiency anemia ()
..Keshan disease ()
..magnesium deficiency ()
..pellagra ()
..pernicious anemia ()
..potassium deficiency ()
..protein-energy malnutrition ()
..steatitis ()
..swayback ()
..vitamin deficiency disorder ()
..Wernicke-Korsakoff syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	241
Name:	Keshan disease
Definition:	a congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	caused by deficiency of selenium in the diet; congestive cardiomyopathy due to selenium deficiency; enlarged heart and poor heart function
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal