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: channelopathy (MONDO:0021016)
Parent Node: muscle tissue disease (MONDO:0003939)
Parent Node: neuromuscular disease (MONDO:0019056)
..Starting node ..muscular channelopathy ()
Child Nodes:
........Andersen-Tawil syndrome ()
........Isaac syndrome ()
........malignant hyperthermia of anesthesia ()
........Morvan syndrome ()
........myotonia congenita ()
........paramyotonia congenita of Von Eulenburg ()
........periodic paralysis with transient compartment-like syndrome ()
........potassium-aggravated myotonia ()
Sister Nodes:
..atrophic muscular disease ()
..Charcot-Marie-Tooth disease ()
..motor neuron disease ()
..muscular channelopathy ()
..neuromuscular disease with dilated cardiomyopathy ()
..neuromuscular junction disease ()
..skeletal muscle disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19119
Name:	muscular channelopathy
Definition:	A channelopathy that involves the muscle tissue.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	channelopathy of muscle tissue; muscle tissue channelopathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal