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: muscle tissue disease (MONDO:0003939)
Parent Node: myocardial disorder (MONDO:0024643)
..Starting node ..conduction system disorder ()
Child Nodes:
........atrial conduction disease ()
........atrioventricular node disease ()
........progressive familial heart block, type 1A ()
........sinoatrial node disease ()
Sister Nodes:
..conduction system disorder ()
..myocardial infarction (disease) ()
..myocardial ischemia ()
..myocarditis ()
..neoplasm of myocardium ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5449
Name:	conduction system disorder
Definition:	A disease involving the conducting system of heart.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	conducting system of heart disease; conducting system of heart disease or disorder; disease of conducting system of heart; disease or disorder of conducting system of heart; disorder of conducting system of heart; disorder of conducting system of heart
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal