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: Cestode infectious disease (MONDO:0042488)
..Starting node ..sparganosis ()
Child Nodes:
Sister Nodes:
..diphyllobothriasis ()
..echinococcosis ()
..mesocestoidiasis ()
..sparganosis ()
..taeniasis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5963
Name:	sparganosis
Definition:	A condition resulting from infection with the second stage larvae of the parasite Spirometra.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	infection by sparganum; sparganosis [larval diphyllobothriasis]; Spirometra caused disease or disorder; Spirometra disease or disorder; Spirometra infectious disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: KCNQ1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal